Blog

Through the Rare Project we introduce you to the people behind their rare conditions.

Jake - Angelman Syndrome

Jake has Angelman Syndrome.

Jake is a happy, sociable boy who loves meeting people.  He loves his family and friends and thinks nothing of going up to strangers and hugging them.  He loves music and his karaoke machine.  Jake also has a fascination with water so swimming is a favourite activity.  He dislikes face painting, masks, fancy dress and animated characters.

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"Jake has a severe learning disability and has complex communication needs.  He needs help with dressing, toileting and everyday tasks.  He also needs constant supervision to ensure his safety as he has no sense of danger.  Jake has a sleep disorder so needs very little sleep which can be exhausting.  He also has some sensory and anxiety problems.  He can be hyper, especially when excited, or wound up.  His behaviour can sometimes be challenging usually due to frustration with communication.  Jake’s mobility can be unsteady and he will frequently refuse to walk or will stumble and he has a depth perception problem with his eyes and so he needs to wear glasses.

 

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Most people who meet Jake are greeted with a hug but then they struggle to communicate with him.  His smile says a thousand words.  Some people have misunderstood our need to use sign and assumed that he is deaf but he is non-verbal.  We find most people warm to Jake but some smaller children can be intimidated as he invades their space.  If he is having a meltdown in public people often don’t know how to react as he can behave erratically and can shout & scream.

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I think it is important that people have a better understanding of rare diseases.  I believe that with greater awareness there will be more acceptance.  We have found that children are often much more accepting than some adults.  Prior to Jake’s diagnosis at 7 we had never heard of his condition.  I wished I had as not knowing what the future holds in terms of development causes considerable anxiety.

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If there was greater awareness of rare diseases, health visitors and medical professionals would be better placed to give earlier diagnosis and support the families.  It was quite some time before Jake was diagnosed.  I was put in touch with ASSERT and their support has been invaluable to us.  We also use Angelman connections via Facebook which connects families all over the world." 

The syndrome – originally called ‘Happy Puppet Syndrome’ because of the characteristic happy demeanour and stiff jerky movements of the children – was renamed Angelman Syndrome in 1982. Although at first little was known and indeed few other cases identified, in recent years much more has been learned. During the 1980’s advances in genetic medicine made it possible to diagnose increasing numbers of cases and also to start identifying the cause.
In simple terms, it is a chromosome disorder that causes severe learning difficulties. It is now known that irregularities in Chromosome 15 are responsible for AS. However it is also known that there are several different irregularities that can occur in Chromosome 15, all of which result in a diagnosis of AS.
Angelman Syndrome is not a disease, it is a neurological disorder that causes severe learning difficulties, and although those affected have a normal life expectancy, they will require looking after throughout their lives.

For more information and support you can contact ASSERT via www.angelmanuk.org

 

 

Jenson

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Part of the process is grieving for the child that you haven’t got, for the life they won’t have. I had plans, especially as Jenson is my first little boy.

Craig’s son Jenson is 5 and has been diagnosed with the muscle wasting condition Duchenne Muscular Dystrophy.

"Jenson was diagnosed at 3 years old.  Because I have older children I just knew there was something not quite right when he started walking.  At first the doctors thought it was just flat feet and they said they would monitor it until he was 3.  He was walking quite early but when he would come to any kind of step, he would look for something to hold on to.  Whereas most kids jump up from the floor, Jenson was leaning on his hands. There were a few things that I was quite concerned about.

We were really concerned and kept taking him back to the doctors, at least once every few weeks.  It got to a point where we asked to be referred.  They carried out some blood tests and when the results came back they asked Jenson’s mum, Hannah, to call into the surgery.  I was actually in work so she went with her mum, and called me upset to say that he’s going to end up in a wheelchair. 

I had to wait until our next appointment to speak to the doctor but in that time I carried out my own research.  Initially we were only given an information booklet.  the chance to talk to the doctor at the next meeting but I had to do my own research. We were only given an information booklet.

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There is currently no treatment available but there is a lot of research happening.  It would mean everything to me if they found a treatment.  I’m working day and night now.  I’m tired and constantly on my phone.  I know it’s a long shot but all we have is hope.  I’ve got 2 older kids and they’re getting a bit left out to be fair because it’s taking up all my time.

One of the ways I am raising funds is through running.  I never used to be a runner but am now doing half marathons every month.  The running really helps me though and it’s been the best medicine by far.

I am constantly researching and looking for potential treatments, home and abroad, but Muscular Dystrophy UK are just brilliant and do keep us informed if anything knew comes out.

In terms of disease progression, we try not to look into the future and take it day by day.  With Duchenne, no child is the same.  I find it hard because some may die in their 30s but their quality of life can be poor by then.  The disease affects your legs and arms and you can’t keep your eye lids open, chew your food or go to the toilet by yourself.  It’s not even bearable to think about. We both find it incredibly hard to cope with.  Hannah’s constantly getting upset.  She sees a wheelchair and she’s in tears, but I just block it out.  We don’t know what’s around the corner, we’ll just cross that bridge when we come to it.

Part of the process is grieving for the child that you haven’t got, for the life they won’t have. I had plans, especially as Jenson is my first little boy.  I was looking forward to the normal things in life that people take for granted, like watching him play football and taking him to boxing lessons but all of that just went, and I find that really hard.  I don’t think anyone would understand that until they are in that position, even the specialists in the hospitals. It’s really tough.

If I could speak directly to the people researching treatments for Duchenne I would ask them to please just do your best, that’s all you can do. I’d give my own life, it’s that precious.

Awareness is very important to make people understand.  Having to explain what Duchenne is to everyone is tiring and quite hard. You’ve got to tell it over and over to every person you meet.   People also do not always realise that their donations are what funds the research into rare diseases like Duchenne and without it there will be no possible treatments.”

Duchenne muscular dystrophy is a muscle-wasting condition caused by the lack of a protein called dystrophin. It usually affects only boys. About 100 boys with Duchenne muscular dystrophy are born in the UK each year and there are about 2,500 boys and young men known to be living with the condition in the UK at any one time.

Duchenne muscular dystrophy is a serious condition that causes progressive muscle weakness. Owing to the lack of the dystrophin protein, muscle fibres break down and are replaced by fibrous and or fatty tissue causing the muscle to weaken gradually.  No cure has yet been discovered, but there is promising research into the condition.

For more information or support please visit www.duchenneuk.org or www.musculardystrophyuk.org

If you wish to discuss this project or reproduce any images or story, please contact ceri@samebutdifferentcic.org.uk.  The photographer on this project is Ceridwen Hughes (www.ceridwenhughes.com)

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Sabrina and Carson

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He knows it is a muscle wasting condition...He has asked me the question as to whether or not the prognosis is terminal, so I’ve had to sit down and have that conversation with him...It is a very, very difficult conversation to be having with your child.

"I’m what they call a manifesting carrier of Duchenne Muscular Dystrophy which has caused heart problems in my case so I’ve got severe cardiomyopathy and heart failure.

I was diagnosed with the cardiomyopathy at 21 but we didn’t realise at the time it was related to being a carrier.  It took another two years for us to figure that out and work out what the cause was.

I knew that I was a carrier of Duchenne but I was told that as a carrier it wouldn’t affect me and not to worry about it unless I wanted to have children in the future. 

It’s extremely rare to be a manifesting carriers.  In addition to the heart problems I have slight weakness in my hips, leg and arms.

My condition is progressive but not as quickly as with the boys who have Duchenne.  Because there are so few manifesting carriers we do not know exactly how is will develop.  It’s all a bit of a learning journey for everybody involved, the doctors as well as myself.
As an ultra rare case it can be very difficult when dealing with doctors as some refuse to accept it can even affect females.  Things are starting to get better as there’s a lot more research going on now.

Awareness is important because so few people realise it can even affect females and many carriers may not understand the importance of getting their hearts checked. 

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My son Carson has Duchenne.  I had not thought I could ever have children and so when I got pregnant he was tested and we found out he had it.  It was never an option to not go ahead with the pregnancy because it was such a miracle, just being pregnant anyway.  Knowing before he was born meant we were more observant for signs he was being affected but at the same time it meant we did not have to struggle to get a diagnosis.

Carson is quite severely affected.  He lost the ability to walk at the age of 8 and he’s now completely wheelchair dependent.  Recently his arms have started to grow weaker as well which means  he can’t lift his arms above his head and that’s a struggle.  It seems to be progressing quite quickly really which is a worry because he’s still only 10.  It is hard to watch him struggling at such a young age.

He’s never really had any problems with the way people treat him.  He’s got a really good school and people just treat him like Carson.  That’s all we’ve always wanted and I’m glad that things are that way.

Carson is very cheeky, very cute, very mature for his age.  He knows a lot more than he should.  He’s just an absolute joy. I wouldn’t swap him for anything.

There’s so much research going on now, looking for treatments and possibly a cure, that we need to keep that awareness out there so people can keep raising money and working towards hopefully one day finding a cure or a treatment for it.

We recently had to have an incredibly difficult chat with Carson.  Because he’s so bright, he’s been asking questions for a little white about the condition and about the future.  He knows it’s a muscle condition and he’s been asking about his breathing muscles and different things.  He has asked me the question as to whether or not the prognosis is terminal, so I’ve had to sit down and have that conversation with him.  I’ve had to explain about life expectancy and about how the condition progresses.  It has been a very, very difficult conversation to be having with your child."

What is Duchenne?

Duchenne muscular dystrophy (DMD) is the most common fatal genetic disease diagnosed in childhood. The disease almost always affect boys, and they tend to be diagnosed before the age of 5. Duchenne muscular dystrophy is classified as a rare disease. There are around 2,500 patients in the UK and an estimated 300,000 sufferers worldwide.

Children born with Duchenne muscular dystrophy have a fault, known as a mutation, on their dystrophin gene, the longest gene in the body. The fault means that they cannot produce dystrophin, a protein that is vital for muscle strength and function. This lack of dystrophin results in a progressive deterioration of muscle strength and function.

For more information or support please visit www.duchenneuk.org

If you wish to discuss this project or reproduce any images or story, please contact ceri@samebutdifferentcic.org.uk.  The photographer on this project is Ceridwen Hughes (www.ceridwenhughes.com)

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Izzy

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As a parent her diagnosis destroyed me and it still does every day... You’ve got to dust yourself down and think ok we can either let this destroy us or we can live as best a life as we can and that’s what we decided to do.

Izzy has Pitt-Hopkins syndrome, she’s 8 years old and was diagnosed just before her 2nd birthday.  Initially when she was born we didn’t think there was any problems with her but then as she became a little bit older, towards her 1st birthday, it was as if sometimes she was a bit vague and the lights were on but nobody was home.  She wasn’t quite understanding things as her brother did.  I took her to the paediatrician and he felt that there was a slight developmental delay but I think at that point that I knew there was something a bit more than that.

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Typically people with Pitt Hopkins syndrome have global developmental delay, absence of speech and they can have dysmorphic features like a wide nose, deep set eyes and low set ears.  Izzy also has problems with her balance.  Quite often children with the condition have seizures, hyperventilation and apnea but luckily at the moment Izzy doesn’t have those symptoms. 
The blood test for Pitt-Hopkins has only been around since 2007, so there are very few children or young adults diagnosed with Pitt-Hopkins.  We’re sure there are probably more out there but because the blood test is so new the numbers are relatively low.

Izzy is a beautiful little girl and she’s very happy, most of the time.  She can get quite anxious and frightened about things as I think she has a lot of sensory processing problems.  The biggest challenge she has is communication.  What I wouldn’t give to have a conversation with her.  I know what she wants most of the time and she makes herself understood.  She loves life.  She’s luckily, blissfully unaware of the challenges that she faces and that’s a good thing for her really.

As a parent her diagnosis destroyed me and it still does every day.  There was a time when we were in a very bad place, but you’ve got to dust yourself down and think ok we can either let this destroy us or we can live as best a life as we can and that’s what we decided to do.  We make the best of it every day and make the most of her life.

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Having an ultra rare condition makes everything that bit more difficult.  If you go for any sort of medical help, whether it be therapists or doctors, usually we end up as the specialists.  I’m involved in Pitt-Hopkins UK and we all try and support one another.

Awareness is really important.  Life’s not perfect, everybody’s different and I try and instil that into my son as well.  He asks me sometimes, why does my sister do this, why does my sister do that, and I try to explain to him that everybody’s different.  Difference is good, that’s what makes us ourselves and are individual people.    

It can be very difficult for siblings.  I had the children very close together because I wanted them to be strong brothers and sisters.  The plan did work and didn’t work, obviously they’ve still got each other, I know that, but it’s an awful lot of responsibility for Thomas.  He’s only 21 months older than her but I feel he’s had to grow up slightly quicker than I’d have liked him to. 

For more information or support please visit www.pithopkins.org.uk.

If you wish to discuss this project or reproduce any images or story, please contact ceri@samebutdifferentcic.org.uk.  The photographer on this project is Ceridwen Hughes (www.ceridwenhughes.com)

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Barbara

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...I was a single parent I was diagnosed with progressive Multiple Sclerosis. To say it changed my life is possibly no understatement.

How do you explain to people that just because you look completely fine does not mean that you feel ok.  This is a problem that is regularly experienced by people who don't outwardly look any different.  Barbara has explained how her MS has impacted on her.

"Thirty five years ago when my two children were small and I was a single parent I was diagnosed with progressive Multiple Sclerosis.  To say it changed my life is possibly no understatement.  Like most people I love sunny days and spending time with  my family and friends.  I also love my weekly singing sessions with the Tenovus choir.  The odd tipple of red wine is also welcome and some may say that my singing even improves afterwards!

If I had to list things I do not like I would have to include the rain, miserable people, being tired and not being able to pursue what I want to do.  As no two days are the same I have to plan my life on a weekly/daily basis. I try not to plan too many events in a given time, which is frustrating, but the severe fatigue from doing too much is unbelievable.

I recently gave in and invested in a mobility scooter which was a really hard decision for me but it has actually given me back my freedom!

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As manifests itself differently from person to person and mine affects my balance.  I sometimes have a major balance malfunction and appear drunk and it restricts how far I can walk now. Basically, my head and heart want to do so much but my body has other ideas!

MS is invisible, except for when I appear drunk and lose my balance!  Because there is no obvious outward signs people assume the worse! They also don’t understand the symptoms I experience, the constant tingling and discomfort I get throughout my whole body, far worse when I am tired sometimes preventing me getting to sleep. Its invisible and people just don’t get it, I do appreciate that it’s very hard to understand and have pretty much stopped trying to explain.

The Beauty of Rare is important so that people understand that its not a case of one disability fits all, every one of us, disabled or not, are individuals and should be respected."

For more information or support please visit www.neurotherapycentre.org or www.mssociety.org.uk

If you wish to discuss this project or reproduce any images or story, please contact ceri@samebutdifferentcic.org.uk.  The photographer on this project is Ceridwen Hughes (www.ceridwenhughes.com)

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Eddie

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Eddie’s a boy who is seriously held back by his condition. I suppose in a way, I don’t entirely know who he is because of the fact he’s not developing and that’s pretty much because of the seizures.

“Eddie has Infantile Spasms.  With Infantile Spasms, the actual seizures are not the way people imagine, he doesn’t lose consciousness and he doesn’t shake all over. They can look very mild but they come in clusters, so some clusters might be up to 80, sometimes it’s only 10.  They are sort of small movements and he jerks, his legs will come up and his eyes will roll.

The clusters themselves are a reflection of what’s happening underneath and for infantile spasms there are three things - one of them is something called Hypsarrhythmia and that’s where the brainwaves are always chaotic, so when you look at an EEG of a healthy brain, you get the nice wave, but Eddie’s brainwaves are always chaotic so neurologically, although the seizures look quite mild and people will often say “oh, I was expecting more than that”, what’s actually happening is that his brain is just constantly seizing.  This is why he is so slow to develop because it’s like you’re constantly rebooting a computer.  It’s like everything gets wiped over and over, and so at nearly 3, he can’t sit, he can’t walk, he can’t talk, he’s incredibly delayed and it’s because his brain is just firing away. That’s what makes it so catastrophic really.

When you have a child with special needs you pretty rapidly become aware that when someone asks you about them, you should never start with their disabilities but there’s no denying it, that’s the focus of your attention.  He’s a really happy boy, he’s very sociable and loves hanging out with people.  He’s got a great smile and he loves being busy.  He’s just recently started going to nursery and absolutely thrives off that.  However, Eddie’s a boy who is seriously held back by his condition.  I suppose in a way, I don’t entirely know who he is because of the fact that he’s not developing and that’s pretty much because of the seizures.  He’s got brain damage effectively which is the cause of the seizures.   So, the focus of our attention presently is doing what you know you can do to stop the seizures. 

Eddie was initially given the frontline treatment for Infantile Spasms and one of the steroids from the NICE guidelines. Those are the main treatments and if they don’t work then it’s really a case of working through some of the more traditional epilepsy medicines that aren’t specifically for Infantile Spasms. And as you go down the list, the chance of them working gets smaller.
We’ve tried quite a few epilepsy medicines, there are still a couple we could try but the chances of them working are really slim now because he’s tried so many of them.  However, none of them are for infantile spasms.  We haven’t ruled out others but you also have to be conscious of how many you’re giving and how they interact with other.

The spasms are so catastrophic, the next option is to look at trying medical marijuana.  We started Eddie on CBD over a year ago and that has been what’s worked best for him.  CBD is illegal in this country, but you can buy a variation of it in Holland & Barrett.  Because it’s not prescriptible you can’t get any advice and that was an incredibly hard decision to make.  We trust the medical team around Eddie.  He’s got some brilliant people involved in his care but they can’t help us with this at this moment in time.   We currently buy a product from America, from a state where it is legal, so it’s being made properly and we’ve been able to get some advice from both the company that make it and other parents but not from our own medical team.  With the CBD we had a brilliant phase where we had 3 months with no seizures and it’s still at the best it’s been with only a couple in 24 hours, so at the moment we have changed to a different kind of CBD because they’re all made from different plants so they work slightly differently.  We both see so much potential for a happy little boy, he’s so loving but he just can’t develop.
In America it has absolutely been shown to work for other children and there have been so high profile cases in the media recently and we have been doing as much as we can do too to highlight the plight of our children.

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Worldwide, it’s very well known that both CBD and medical marijuana can really help with all kinds of epilepsies, and there are other countries where it is legal.  They’ve found the medical evidence that it works, they’ve done the testing and they’ve done the trials.   As parents it is scary and it’s not something that I thought we would ever associate ourselves with, it’s not something I’ve ever thought about before.

When he had 3 months of seizure freedom when we started the CBD, he learnt to roll in that time, he developed.  It wasn’t leaps and bounds but he developed.  He developed more in those 3 months than he’d developed over the last year and that was an incredible thing and that’s what we want.  We just want him to have that chance."

 

If you wish to discuss this project or reproduce any images or story, please contact ceri@samebutdifferentcic.org.uk.  The photographer on this project is Ceridwen Hughes (www.ceridwenhughes.com)

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Meliz

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One of the hardest aspects of the condition for me is the tiredness. My back also sometimes throbs because of where the bone marrow is trying to produce more blood cells when I am due to have a transfusion.

"I have Beta Thalassaemia Major which is a blood disorder that reduces the production of hemoglobin.  Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body.
Every 3 weeks, I have to have a transfusion of 3 units of red blood cells which takes all day.  Because of the excess blood, and the excess iron in the blood, I need to then have regular medication to get the iron out of my system.  I was diagnosed pretty late, at 3 years old.  My mum said I used to cry a lot when I was younger and there was never really a reason.  I then started to get jaundiced and my eyes and skin started to go quite yellow.  It was then that I was diagnosed. 

Having this condition really affected me when I was younger.  I used to take a lot of time off school for doctors appointments, hospital appointments, transfusions, blood tests and just through being tired in general.  It really affected me academically and since then has caused issues with employment as I still need to take a day off for transfusions every three weeks.  Not all employers are sympathetic or understand why it is essential.

Because of the transfusions it is recommended that I keep my iron intake low so I don’t eat too many foods that naturally are high in iron, like watermelon, spinach and broccoli.  I have also been told that it might help to drink black tea when I eat meals as it reduces iron absorption. 

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In my family I’m the only one with the fully blown illness.  I have 6 siblings and some of them do have a thalassaemia trait as both my parents are carriers.  If both parents are carriers of Thalassaemia they have a 1 in 4 chance that their child will come out with Thalassaemia, 1 in 4 chance that their child will have nothing, no trait or not having the illness and then it’s 2 in 4 chance that their child or offspring will be carriers, so it’s quite a high percentage.

One of the hardest aspects of the condition for me is the tiredness.  My back also sometimes throbs because of where the bone marrow is trying to produce more blood cells when I am due tor a transfusion.  It really impacts on so many aspects because I am often too tired to socialise and that can really affect some of my relationships.

UKTS have given me a lot of support.  Recently they had a conference and it was really great because there are other Thalassaemia sufferers at the event.  It is really important to have that relationship, those connections with other people that have Thalassaemia, because it’s reassuring and you learn about the latest treatments. 

Awareness is so important.  I think this project that you’ve created is fantastic."

Thalassaemia is the name for a group of inherited conditions that affect a substance in the blood called haemoglobin.  People with the condition produce either no or too little haemoglobin, which is used by red blood cells to carry oxygen around the body. This can make them very anaemic (tired, short of breath and pale).

It mainly affects people of Mediterranean, South Asian, Southeast Asian and Middle Eastern origin.

There are a number of types of thalassaemia, which can be divided into alpha and beta thalassaemias. Beta thalassaemia major is the most severe type. Other types include beta thalassaemia intermedia, alpha thalassaemia major and haemoglobin H disease.
It's also possible to be a "carrier" of thalassaemia, also known as having the thalassaemia trait. Thalassaemia carriers don't have any serious health problems themselves, but are at risk of having children with the condition.

For more information or support visit www.ukts.org.

 

If you wish to discuss this project or reproduce any images or story, please contact ceri@samebutdifferentcic.org.uk.  The photographer on this project is Ceridwen Hughes (www.ceridwenhughes.com)

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Toni

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I didn’t want anyone’s pity and I still feel I don’t need it... if someone says to me have you got children, and then I tell them our story, I can see pity in their eyes. I don’t want that, I want them to listen and understand that I am very grateful for the experiences I’ve had and the time that we had with our children.

"I first heard of Niemann-Pick disease when my daughter, Lucy, was about 5 weeks old.  She had been unwell from birth as she had a very large tummy due to an enlarged liver and spleen.  She underwent a lot of tests and we were told she may have Niemann-Pick disease.  I went away, and at that point we didn’t have a computer, so I asked my friend to look it up and find out what it was.  She brought reams of documents and struggled to tell us how devastating it was.  We looked at our gorgeous little baby and just could not believe that she was so unwell.  Of course, the blood tests came back, and it was confirmed that she did in fact have Niemann-Pick disease Type C.  It took a long time to get used to the diagnosis and to even be able to say those words.

When we were given the initial diagnosis we were given the wrong information as he said she had Type A, which is a lot more severe.  He said that we had 6 months, if that, with our child, and the words he used were, you can take her home to die.  He also said some other things that will always stay with me forever.  I would love to revisit that appointment with him and have the strength to tell him how much an impact his words had upon us.  He destroyed us completely within that appointment.  Delivering news like that is very, very difficult but I feel that there must be more sensitive ways.

However you deliver news like this it will be difficult to hear.  I think it is important to consider how much information to give at the point of diagnosis.  I don’t think parents can take it in.  They will hear the words you utter, that is, they have this condition and they will hear no more.  At subsequent appointments, and with support from patient groups, is perhaps a better time to discuss more detailed information.  I definitely think that when you’re speaking to parents for the first time and delivering awful news that they must have somebody there with them, who can support them, and who can listen for them.

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We spent a lot of time crying after the diagnosis.  I had this tiny little bundle just here, and I think, in the past if something was broken you would just put it down and get a new one but you can’t with a baby.  It’s broken, it’s yours and you’ve got these feelings of I want to fight for her for everything

Telling people was really difficult because we had this diagnosis of a progressive neurological condition. We didn’t know when the symptoms would happen or how long Lucy would be with us. When they see your child start to grow normally and look normal and act normal then they forget. They forget that you as a mother are going through, what I would call a grieving process, because from the minute you’re told your child is not going to live a full life, you start to grieve for the all the things they won’t be able to do or the experiences that you won’t have together.  So whilst my friends were thinking ahead to university and marriage and all these lovely things, I knew they were never going to happen for Lucy and that was so very difficult to cope with and deal with.  I would be out and have a lovely day with friends and their children and then go home and break my heart.  That I suppose comes with the isolation of a rare disease and that’s why I think having a community knowing other mums who are affected or whose children are affected by rare diseases is so important

For me, being involved in the patient group Niemann-Pick UK has been an absolute life saver. Honestly, I’ve said this before that I don’t think I would be sitting here and being able to speak as coherently as I can without them.  That community has supported me throughout and been there for me and helped me in so many ways, not just emotional and practical support but the fact that I can feel as if I’ve actually making a difference on behalf of my children

Lucy was born in 2003 and we quickly became pregnant again.  We thought everything would be lovely and we would have another child, and we did, but unfortunately that child was also affected.  Lucy’s sister, Hannah, and she was born in January 2004.  It was a devastating time when she passed away.  We had so much going on in our lives anyway and I really wasn’t very easy to live with at that point in time.  My husband was the one who picked up the pieces and brought me back to reality.  That and the fact I had to care for Lucy of course, because I had to get out of bed everyday to look after her and to be there to make those memories and I just had to get on with life. 

We thought we would maybe try once more.  This time we had a lovely little boy, Sam, and again, unfortunately, he had Niemann-Pick disease too and we lost him.  It was at that point I think that I went really off the rails and needed a lot of help and support from my family and friends.  Again my husband really pulled me through.  It was the year after Sam passed away that I became more involved in Niemann-Pick UK and took on a role with them and that gave me a sense of purpose.  I knew that sooner or later I was going to lose Lucy too and I needed to have something after that where I could make a difference.
Hannah and Sam passed away in 2004 and Lucy in 2007. I also lost my father in 2004 so I lost my father and two children.  It was an incredibly difficult time.

If I was to speak directly to the science community the one thing I would say is, if you can, put yourself in the shoes of a mum or a dad with a child with a rare condition.  Think how helpless you would feel if there was nothing that could help that child and that you were going to lose that child. The difference that you could make to families by finding something that could slow the progression of the disease long enough for something else to be found that can help a bit more is immeasurable. Patients need time with their families, parents need time with their children and starting at a very basic research level right through to patients, bringing the bench to the bedside is exactly what we need

To a family who’d just been given a diagnosis I would say take your time, listen to your own feelings and when you’re ready, if you’re ready, reach out to other patients, via a patient group or via your GP or treating consultant.  Try and understand the experiences of others and learn from those and understand that usually, even though you’re a rare disease patient, you aren’t alone.  The things that you are going through and feeling are very normal and someone out there will have been through them before you and will be able to help you

Following our experiences with our children I became involved with Niemann-Pick UK back in 2005 and I now have the position of Chief Executive with that organisation.  I help to oversee the strategic and operational activities and we do so much now to support patients including supplying a clinical nurse specialist who works with paediatric and adult patients. She’s based in Manchester but she travels across the UK to wherever a patient is.  At any one time if they need a home visit or somebody to accompany them to the clinic appointments, Laura can go along and sit with them and help them to understand what they’re being told about their condition, help them afterwards if they have any questions and make sure that they can access their local care and services that they need. We don’t just look at the patient that is affected by the condition, we help their wider family too.  There’s lots of difference that we can make and I hope that being part of this community can help families to feel less isolated and alone with this rare condition

I didn’t want anyone’s pity and I still feel I don’t need it, even though yes I get that reaction, if someone says to me have you got children, and then I tell them our story, I can see the pity in their eyes.  I don’t want that, I want them to listen and understand that I am very grateful for the experiences I’ve had and the time that we had with our children.  It’s very special to me and I feel very lucky.  I know that sounds ridiculous, but I do, I feel really lucky and I want people, if I talk to them about my experiences to learn from me and pass it on and raise awareness and support and help, and that’s what I want from them and not their pity."

Niemann-Pick diseases are a group of rare inherited lysosomal storage disorders that can affect both children and adults.

Acid Sphingomyelinase Deficiency (ASMD) includes Niemann-Pick Disease Type A (NP-A) and Type B (NP-B), which are caused by a lack of the enzyme acid sphingomyelinase leading to a build-up of toxic materials in the body.

Niemann-Pick Disease Type C (NP-C) is a devastating neurodegenerative disease caused by an accumulation of lipids (fats) in the liver, brain and spleen.

For more information or support visit www.npuk.org.

If you wish to discuss this project or reproduce any images or story, please contact ceri@samebutdifferentcic.org.uk.  The photographer on this project is Ceridwen Hughes (www.ceridwenhughes.com)

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Maddox

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We feel really lucky that we were in the right place at the right time and we had access to the drug for Maddox because without it he would not be here now.

Maddox has a rare genetic disorder, which is a perinatal form of Hypophosphotasia (hpp).

"When Maddox was born we all noticed different things about him that weren’t what we were expecting.  I noticed that his legs were bowed and my mum noticed his breathing.  The nurses and doctors reassured us that he was fine and we were discharged home.  He struggled to feed very well and then he had a bloody vomit and we were sent back to hospital.  He was diagnosed at a week and a half old because of his failure to thrive.  He ended up on a feeding tube with oxygen.  They were really worried about him because he was getting really sick and they googled low alkaline phosphatase and low bone density after lots of tests and came up with his condition.

Initially they were preparing us for bad news and they spoke about palliative care.  We were fortunate that one of the consultants  did lots of research and identified a drug trial for the condition.

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We had no idea what to expect and there was very little information at our original hospital. They printed off some research documents and showed them to us.  We weren’t very hopeful but it was our only chance really.  It was either that or palliative care.

We had to travel to Birmingham were told to expect to stay for at least six months, so we kind of prepared ourselves for a year.  I moved up with Maddox but Lewis, Maddox’s dad, had to carry on working so he stayed in Portsmouth and would visit at weekends.

I was really lucky because I had lots of friends who were nurses and worked shifts so they were able to come and visit me, and family took it in turns to come up.  I also spent time with the chaplains and got to know our team of nurses and doctors really well.  It was really difficult.  I felt I was missing out, particularly when the weather started to get better.  I just wanted to get outside and we were stuck indoors.  I remember one day we were planning to go for a walk outside and I was really excited but Maddox caught an infection or something so I was so disappointed.

We were very lucky with the drug trial as we noticed changes in Maddox after a few weeks.  He started to get stronger.  They took him off his pressure oxygen and we moved from intensive care to high dependency.  He just improved continuously and did really well.  He was late with sitting up and walking and crawling and that kind of thing but he caught up eventually.
HPP is a condition which affects bones so the people affected by HPP don’t process minerals in the same way as we do.  They don’t retain calcium from the minerals that we need to grow bone.

We’re in the process of registering the charity Soft Bones UK.  It is for people affected by Hypophosphatasia, particularly new families, that have just been diagnosed.  We provide signposting to health professionals and just to give them information that they need and support.
It’s so important that we raise awareness of rare disease as a whole, but particularly for us, Hypophosphatasia is an ultra rare disease because if people don’t know about it, these children might not make it.

Ruby, our daughter, is a carrier and think that I have mild affects. I’ve broken my arm 3 times and the dentist told me I’ve got weak teeth. I presume that as I grow older I’ll probably start seeing more and more effects of the condition.

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We couldn’t believe as a family that there was even a study going on about such a rare condition as Hypophosphatasia.  We feel really lucky that we were in the right place at the right time and we had access to the drug for Maddox because without it, he wouldn’t be here now."

What causes Hypophosphatasia?

Hypophosphatasia (hypo-fahs-fuh-tay-shuh) or HPP is a metabolic bone condition that most often affects the development of bones and teeth. The signs and symptoms vary widely, with mild cases causing only dental abnormalities while the more severe types have life-threatening consequences. The hallmark of the disorder is bones that become soft or weakened, causing skeletal deformities, fractures, premature tooth loss and pain.

A faulty gene (the TNSALP or ALPL gene) is the cause of HPP. This defective gene limits the body’s production of an enzyme called alkaline phosphatase (ALP). Healthy bones are made strong and rigid when minerals, like calcium and phosphorus, are added to the bones through a process called mineralization. Without enough ALP, certain chemicals build up and prevent calcium and phosphorus from binding together and depositing in the bones, leading the bones to be soft, curved and fragile and teeth to become loose or fall out prematurely.

The affected gene can be passed from generation to generation, but it is possible for people to carry the gene and not exhibit any symptoms.

For more information you can visit www.softbonesuk.co.uk.

If you wish to discuss this project or reproduce any images or story, please contact ceri@samebutdifferentcic.org.uk.  The photographer on this project is Ceridwen Hughes (www.ceridwenhughes.com)

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Vinnie

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Everyone deserves the right to live a full life and these bright, intelligent, people need a chance. This is the biggest genetic killer of children under two so these perfectly bright, able children , that just want to be children, are dying.

Vinnie has Spinal Muscular Atrophy (SMA) Type 1. 

"We knew from about 4 weeks old that there was something not quite right as Vinnie wasn’t holding his head.  I tried taking him to the hospital and to the doctor’s but no one would listen to me.  They thought I had post-natal depression.  When he was 8 weeks old I took him to the hospital again and refused to move until he was seen.
I was sure there was something not right because he just wasn’t doing what normal children do at that age.  I’ve got an 8 year old daughter so there was a comparison.  He just couldn’t even begin to hold his head or really move his legs that much or weight bare.

I think they suspected SMA but they didn’t say.  They took a series of blood tests which measured the CK levels in Vinnie’s blood.  I had my suspicion that it was SMA and when they said that the test had come back at a pretty high level I knew that it was a muscle condition
What this means for Vinnie is that his body only produces 10% of the protein because he’s missing the SMN1 gene.  This means his motor neurones do not stay alive, they gradually die, leading to the muscle wastage around his body.

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The weakness will tend to be worse in the lower region.  A lot will have some arm, finger, hand movement but it will affect every muscle eventually so swallow, breathing and it can affect the muscles in the eyes

When he was given his diagnosis we were told that Vinnie would have about 8 months with us and there was nothing that we could do.  The doctor did mention some clinical trails that were taking place so I just emailed probably every doctor linked to Spinal Muscular Atrophy around the world to find out where the trials were and if there was any chance of getting him on them.  We found a trial at Great Ormond Street hospital and were fortunate to get him accepted.

We tend to stick to ourselves on the whole although we have joined groups on Facebook, which has probably been the biggest support, speaking to other parents affected.  They are generally far more knowledgeable than any other person about the condition. 
Emotionally, getting the diagnosis was extremely hard.  I didn’t sleep, didn’t really eat, didn’t do anything for the first two weeks.  I really believed he was going to die.  Once I started speaking to more people across the world and seeing that there are children out there who are teenagers and one has even just turned 21.  It gave me hope.  We were told also if he was ventilated that he would have no quality of life, so seeing these children out there going to Disney and doing so many amazing things, it was our little ray of hope and then I just started fighting

Getting Vinnie accepted on a drug trial meant everything.  It gave us hope.  I think when your child is diagnosed with a terminal illness you automatically believe that your child will be the one that will not succumb to the illness.  When there’s a drug that possibly will give them that life, it’s the best feeling in the world.

Having a child with a rare disease has totally overtaken my life.  I don’t really do anything outside of SMA any more.  Everything revolves around it and most of my friends are now related to SMA.  Strangely his diagnosis has changed me as a person, for the better, most definitely. You learn to appreciate things that you took for granted before, like just spending time together.  You really cherish those silly little things and all the things like the materialistic stuff that you were bothered about before really aren’t important.

He is cheeky.  His personality is out of this world and he’s just the funniest little boy.  He’s so clever as well, oh my god, that boy is so bright.  He’s just on the ball and doesn’t miss a trick. Even changing my hair, he will pick up on that as well.

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Vinnie’s non-verbal and what I find frustrating is when people come to talk to me and they direct questions at me about Vinnie and they don’t acknowledge him.  Sometimes Vinnie will be on his ventilator and because he is so physically disabled they assume he is not cognitively aware. That frustrates me because I think he fully understands what you are saying so please don’t ignore him.

Everyone deserves the right to live and to live a full life and these are bright, intelligent people need a chance.  This is the biggest genetic killer of children under 2 years of age so these perfectly bright, able children that just want to be children are dying.  Some are also not getting the correct standards of care because doctors don’t think their life’s worth living.  Just because they can’t move doesn’t mean they don’t have an amazing quality of life because all a child needs is love, that’s all they need.  So they need the help and the money and the funding to get more treatment to give them the ability to live the life of a normal child.

We don’t want anyone’s pity.  Don’t feel sorry for him, he’s happy, he couldn’t be more loved and have a more supportive family."

  In this image, the  ubiquitin activating protein is  projected onto Vinnie's dad.  It is critical for appropriate protein degradation and amongst other things dysfunction of this system is linked to infantile SMA.

In this image, the ubiquitin activating protein is projected onto Vinnie's dad.  It is critical for appropriate protein degradation and amongst other things dysfunction of this system is linked to infantile SMA.

What is spinal muscular atrophy?

Spinal muscular atrophy (SMA) is a genetic disease affecting the part of the nervous system that controls voluntary muscle movement.
Most of the nerve cells that control muscles are located in the spinal cord, which accounts for the word spinal in the name of the disease. SMA is muscular because its primary effect is on muscles, which don’t receive signals from these nerve cells. Atrophy is the medical term for getting smaller, which is what generally happens to muscles when they’re not active.

SMA involves the loss of nerve cells called motor neurons in the spinal cord and is classified as a motor neuron disease.  For more information you can visit www.smasupportuk.org.uk or www.musculardystrophyuk.org

If you wish to discuss this project or reproduce any images or story, please contact ceri@samebutdifferentcic.org.uk.  The photographer on this project is Ceridwen Hughes (www.ceridwenhughes.com)

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Lucy

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If I could tell people one thing it would be that having a rare disease does not make you a weirdo. We’re just as normal as you, we just have a few quirks... I just want people to treat me normally and accept our differences.

"I have Ehlers-Danlos Syndrome Type 3 which means I am hypermobile.  It is a soft tissue connective disorder which can affect anywhere in the body.  Because it’s a collagen deficiency as well, it can affect anywhere in your body from your brain to veins or even your heart.  It just has an effect everywhere.

I first realised there was something wrong in 2011. I was on my bed and all of a sudden my wrist starting burning.  It was really weird and it started to come up in a blister.  At first we thought it might have been a bite but within 48 hours I was on a paediatric ward in the local hospital because I had blisters all over my legs and on my back.  Looking back at my childhood there was obvious signs, but it is common for people with EDS not to get diagnosed until they’re in the their teens, because symptoms normally start becoming worse when they’re going through teenage hood.

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In addition to the blisters, my speech was affected when I was growing up and I have a condition associated with it called Pots which is a Heart condition.  As recent as 2017 I also lost all my hair.  I had really long hair that just fell out in the space of just 48 hours.
As a 17 year old girl to lose all my hair was huge.  I felt really ugly and just didn’t want anyone to see me.  I didn’t go to college for two weeks, I refused to leave the house.  I thought that people are going to look at me and know I was sick.  Before then people often did not know I had EDS because it is invisible but suddenly people could see there was something wrong.
On the flip side when you have an invisible condition sometimes people do not understand that just because you’re wearing make-up and look well that you can still feel so poorly.  I suffer from chronic fatigue and that is so it is hard to explain to people as they just don’t understand it is not simply tiredness.

Having a rare disease as a teenager has impacted on me massively.  When I initially became ill I was right at the start of my teenage years and building my first proper friendships.  I have only really got one proper friend who has stuck by me.  There was a time when I missed a year and a half of school because of EDS and so I’ve basically had no friends or social life for a few years.   I’m just starting to get it back now.  When you’re in hospital, you meet friends that are going through the same thing as you, but when you leave hospital you have no one that’s going through the same thing as you and it is hard.

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If I could tell people one thing it would be that having a rare disease does not make you a weirdo. We’re just as normal as you, we just have a few quirky little bits about us.  I can dislocate really easily and sometimes in college my shoulder will pop out, for example, and I’m just there putting it back in.  I get these really weird looks.  I just want people to treat me normally and accept our differences."

What is Ehlers Danlos?

Ehlers-Danlos syndromes (EDS) are a group of rare inherited conditions that affect connective tissue.  Connective tissues provide support in skin, tendons, ligaments, blood vessels, internal organs and bones.  

There are several types of EDS that may share some symptoms, including:

  • an increased range of joint movement (joint hypermobility)
  • stretchy skin
  • fragile skin that breaks or bruises easily

The different types of EDS are caused by faults in certain genes that make connective tissue weaker. Depending on the type of EDS, the faulty gene may have been inherited from one parent, or both parents.  Sometimes the faulty gene isn't inherited, but occurs in the person for the first time.  You can find out more information from www.ehlers-danlos.org

If you wish to discuss this project or reproduce any images or story, please contact ceri@samebutdifferentcic.org.uk.  The photographer on this project is Ceridwen Hughes (www.ceridwenhughes.com)

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Jack

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He looks healthy but that’s the heartbreaking thing, because at the end of the day, his muscles are wasting away and he is dying.

When you think of big muscles you usually assume that person must be strong - a bit like Popeye!  With Duchenne Muscular Dystrophy the opposite is true as the large muscles are actually a sign of their muscles getting weaker.  One family affected by the condition shared their experience with us.

"Jack was diagnosed with Duchenne Muscular Dystrophy in 2015 when he was just 2 years old.  It’s a rare condition, that mainly affects boys.  It’s a muscle wasting disease, so he’ll gradually begin to lose all of the skills that we’ve watched him gain.  He will likely be in a wheelchair by the time that he is 12 and finally all his muscles will deteriorate.  His life expectancy is in his early 20s

He walked at the age he should have done, and he could sit up.  We just noticed that when he was trying to get upstairs he was very tired, it felt like a big effort for him, and he was getting fatigued quite quickly.  We also noticed that he wasn’t really using his quad muscles in the same way that his cousin was so when he was getting up from the floor it was much more of an effort. We thought he might need a bit of physio or have a vitamin deficiency, so we went to the doctors to explore further and then we were sent for a blood test.

We had a blood test done and his CK levels were elevated so we had a call at 7am in the morning from a duty doctor at the hospital, it was completely out of the blue.  He said that Jack had got raised CK levels, but we didn’t know what that meant.  He said that it might be a form of muscular dystrophy, so then we started googling and our minds were going everywhere.  We came across Duchenne muscular dystrophy and just hoped it’s wasn’t that one because that’s the worst form of muscular dystrophy that there is because it is fatal.  It’s life limiting.  

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To just hear this on the phone was so unexpected.  We were in shock and disbelief all weekend.  There is no good way to hear this news but it was just before Christmas and in an ideal world it would have been better had we known that we were going for a genetic test.  The consultant and doctor should have supported us.  It’s never going to be good news to hear, it completely throws your world upside down.  It takes away all the hope that you have for your child and you start grieving for the life that they should have.  Whilst you’re told to live life in the moment, it’s impossible to do that to some extent, when you know your child’s life has been taken away.

After the diagnosis we just threw ourselves into fundraising and finding out as much as we can in the hope that new drugs and treatments will come along and help to save his life.  We hope that he’s in the generation that will survive and have a better quality of life than those that have unfortunately not had that opportunity in the past.  We try and keep him in the best condition that we can do so that when that treatment or cure comes along he’s going to have the best chances of extending his quality of life, and it’s all about quality of life.

Duchenne means that children like Jack can’t do all the things that other children of their age can do, simple things like going to a bouncy castle, parties, trampolining parties or go for family walks.  Everything has to be well thought out so we know how long is he going to be walking. We need to see if we need to bring the wheelchair, make sure he’s got certain breaks, ensure it’s flat and accessible, it’s all of those things that we constantly have to think about.  He wears boots to bed, his friends don’t wear those.  Sports day is a day that we dread.

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To the outsider he looks like a normal child, a healthy child, and even his calf muscles are big but that’s actually because the muscles are deteriorating and are being replaced by fat.  That’s actually a symbol of Duchenne.  He looks healthy but that’s the heartbreaking thing because at the end of the day, he’s dying and his muscles are wasting away.  It’s hard for his own friends to try and understand that he can’t do some of the things that they can, that he’s limited in his physical ability.  It’s been particularly hard for us as parents during his whole diagnosis, but the hardest is yet to come when it starts to impact upon him, his emotions and how he’s feeling about it all.  That’s another thing that we have to face and dread.    

We try not to think to the future.  You have to live every day because looking ahead is just too scary, it’s too unbearable.  You want to press a pause button, more so than any parent, because you dread what the future holds if this disease continues.  Not just for us, it’s about the impact on him, and friendship and him feeling different.  We used to look forward in life, racing to the next event but now it’s hard to look forward to anything, but we just have to keep ourselves positive.  And you do value every second and moment, every photo, every experience because you know that you’re on borrowed time.

These boys are dying, they’re dying year on year, generation after generation and they need a better quality of life and a longer life.  No parent should have to see their own child die or wilt away before their eyes, and there is clinical evidence and research out there, there is hope and hope is all we’ve got at the moment.”

 The protein associated with this gene was identified and named dystrophin. Lack of the dystrophin protein in muscle cells causes them to be fragile and easily damaged.  In this image the dystrophin protein is projected onto Jack.

The protein associated with this gene was identified and named dystrophin. Lack of the dystrophin protein in muscle cells causes them to be fragile and easily damaged.  In this image the dystrophin protein is projected onto Jack.

Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. It is one of nine types of muscular dystrophy.

DMD is caused by an absence of dystrophin, a protein that helps keep muscle cells intact. Symptom onset is in early childhood, usually between ages 3 and 5. The disease primarily affects boys, but in rare cases it can affect girls.  You can find out more from www.duchenneuk.org.

If you wish to discuss this project or reproduce any images or story, please contact ceri@samebutdifferentcic.org.uk.  The photographer on this project is Ceridwen Hughes (www.ceridwenhughes.com)

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Jonathan

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The worst part of the condition? The end probably. Seeing my sister and my brother and the way it has affected them, but at this point I’m just trying to be positive. That’s all I’ve ever done.

As part of the 'Beauty of Rare' series of images we met Jonathan.  He and both his siblings have been diagnosed with Huntington's disease.  He kindly spoke to us about his condition and the impact it has had on his family.

"I have Huntington’s which is a really complex disease that affects you in different ways. It’s a mental illness that affects your thinking, it affects your movements like Parkinson’s and it’s Alzheimer's.  Three things all in one, so it is a nightmare.

I was diagnosed when I was 26 but to be honest, I’ve always believed that I’ve had it, since I was about 17 or 18.  I inherited it from my father who has died.  My sister has the condition, she’s 28 and my older brother has it too.  He is 36 and lives in a care home, and now I have it too.

When you initially get tested and given the diagnosis it is really hard going.  It is a nightmare.  I just realised that I had to keep my mind occupied and so that is why I started running.  Along with working this has kept my mind busy.  I used to run nearly every day and have completed marathons but because of the way my condition has affected me I have had to give it up.  I have also had to finish work because I fell a few times.  It was really, really hard at first because it meant I had so much time to think, but I have started doing charity work to raise awareness of Huntington's Disease and so that is keeping me busy.

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If you start thinking about it, it’ll drive you crazy.  You just have to crack on with your life.

There is no treatment for Huntington's Disease at the moment.  It is really important that as much research as possible is done to find a treatment because it is a terrible disease.  

If I was able to speak directly to the researchers and those funding it I’d say ‘It is the worst illness of all time.  They need to keep on fighting for the people like myself and my family because we’re all fighting for the research ourselves, every day.’
 

 The gene that causes Huntington’s is often called the huntingtin gene. It is attached to a chromosome number 4. It produces an important protein, called huntingtin, which is needed by nerve cells in the brain (neurons) and for the body’s development before birth.  In this image, the huntingtin protein is projected onto Jonathan.  When the huntingtin gene is faulty, the protein it produces repeats certain genetic sequences too many times. This in turn appears to damage neurons in certain areas of the brain - although how and why this happens is not yet fully understood.

The gene that causes Huntington’s is often called the huntingtin gene. It is attached to a chromosome number 4. It produces an important protein, called huntingtin, which is needed by nerve cells in the brain (neurons) and for the body’s development before birth.  In this image, the huntingtin protein is projected onto Jonathan.

When the huntingtin gene is faulty, the protein it produces repeats certain genetic sequences too many times. This in turn appears to damage neurons in certain areas of the brain - although how and why this happens is not yet fully understood.

Huntington’s disease is an inherited illness caused by a faulty gene in your DNA (the biological ‘instructions’ you inherit which tell your cells what to do). If you have Huntington’s, it affects your body’s nervous system – the network of nerve tissues in the brain and spinal cord that co-ordinate your body’s activities.  It can cause changes with movement, learning, thinking and emotions. Once symptoms begin, the disease gradually progresses, so living with it means having to adapt to change, taking one day at a time.  

Every child conceived naturally to a parent who carries the Huntington’s gene has a 50% chance of inheriting it. You can live with the faulty gene for years without symptoms, but if you do have it, at some stage you will develop symptoms.  It is impossible to know when these will start.

Huntington’s disease affects both men and women and usually develops between the ages of 30 and 50, but can start at any age. If you develop symptoms before the age of 20, this is known as Juvenile Huntington’s disease.  There is no cure at this time.

If you wish to discuss this project or reproduce any images or story, please contact ceri@samebutdifferentcic.org.uk.  The photographer on this project is Ceridwen Hughes (www.ceridwenhughes.com)

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Lizzie

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All Lizzie ever wanted was children. She just wanted a nice house and children. Four children she wanted, and she would have made an amazing mum.

Lizzie is one of three siblings diagnosed with Huntington's Disease.  We spoke to her mum, Kim, as part of the 'Beauty of Rare' series of images.  She kindly spoke to us about the impact this disease has had on her whole family.

"I was pregnant with Lizzie which was 1989, she was my third baby, when my children’s father had some problems.  We were backwards and forwards to see the doctors and then he saw a neurologist.  We discovered that in his notes it stated that his father had suffered from Huntington’s disease, which he wasn’t aware of because his parents were divorced when he was a baby, so the problems that we’d had for years were all down to one thing and that was Huntington’s Disease.

Had I not been pregnant with my third child I would never have had children.  I love them dearly but there’s no way, if I knew then what Huntington’s was, would I have ever put them through what they are going through now.

When their father was diagnosed we had no idea if any of the children would have the condition.  You don’t have them tested as children as it is important that they wait until they get to an age where they understand what a diagnosis would mean to them.  It is a rigorous process where they receive counselling for 6 months before having the blood test.  I now know that all three of my children have Juvenile Huntington’s Disease.

Christopher is the eldest. He was showing problems at 18 because he started dropping things, suffering with anxiety and having temper tantrums.  His character changed and he started getting into fights which was just not like him.  Up until that point he had been an absolute pleasure and not at all a difficult teenager.  Without us knowing he went to the doctor for a blood test because he thought there was something wrong.  He had the counselling before getting the diagnosis but looking back he was really not prepared for the diagnosis and just did not cope at all well.  He went from being an outgoing boy who was an absolute pleasure to drinking a bottle of whisky a day.  He couldn’t see a life ahead of him.  He became reclusive and the only time he’d go through the door was to buy his alcohol, and he started smoking. 

He started to self-harm and tried to commit suicide numerous times.  He would just take himself off, drink a litre bottle of whisky and go to the river.  He tried everything; throwing himself in the river, hanging, taking an overdose but each time he would have drunk lots beforehand and so they would not section him as they said he did not mean to do it.  As soon as he was allowed home from hospital he would be there at the river again or finding some other way to try to take his life.  This went on for a long time.  We tried a number of nursing homes and each time he would leave and try to commit suicide again.  He is now at the very late stage of the disease and is in another nursing home.  It is heart-breaking because he is a clever lad and knows exactly what is going on.  He has got so much fight in him but at the same time he doesn’t want to be here. He was 18 when he was diagnosed and he is now 36.

Lizzie is my youngest child, the baby.  During her last year of secondary school she began suffering from depression and she started to disappear from the classroom and hide in the toilets.  It was then that she also started to fall over a lot and became concerned that she too might have the disease.  I didn’t want to believe that she too could be affected.  It really played on Lizzie’s mind and she attempted suicide and took an overdose.    After she was discharged we arranged to see a consultant in Manchester to discuss her fears that she too had Huntington’s Disease.  She explained her fears and anxieties to the consultant who ran a series of tests.  He took a blood sample and explained that it would take 6 weeks for the results.  Lizzie was very keen to know if he thought she had the disease, based on her symptoms.  For her it was important to know and he confirmed our worst fears although the test results went on to confirm this.   I just could not believe that my beautiful daughter had this terrible condition too.

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Usually from diagnosis it usually takes many years to become symptomatic but both Lizzie and Christopher had symptoms early on.  The boys are boys and they have always been fairly independent, but Lizzie has always been close to us.  From a little girl she was Alice in Wonderland, she was just amazing and no trouble, we had no trouble from her at all.  To be told that she too had the disease was just horrendous.  

As a family it wiped us out, it really did wipe us out.  We went through really, really dark times with Lizzie, in a different way to Christopher.  She too took to self-harming.  She didn’t want to be here. Lizzie thought that everyone would hate her for some unknown reason and just couldn’t see that everyone loved her.   She has deteriorated a lot quicker than Christopher and has gone from a bouncy, dancing beautiful girl to being unable to speak, doubly incontinent and unable to walk.  It is a terrible, terrible disease.

Jonathan is the middle one. He’s been fine and I really thought, this is it, he’s ok but he was recently diagnosed so we are now starting this terrible journey with him too.  The worst thing is, Jonathan is watching his brother and sister go through everything and he knows exactly what is going to happen and that breaks my heart.    

 Lizzie and her brother Jonathan.

Lizzie and her brother Jonathan.

People ask me how I get out of bed in the morning but you have to, it’s your kids.  What would they do without me?  I feel that this disease has made me quite bitter.  I had friends with children the same age.  They are getting married, buying houses and having children.  They would chat to me and tell me all about it and I just stand there putting on a brave face but when they leave all I can think of is how my children will never be able to do what theirs can do.  All Lizzie ever wanted was children.  She just wanted a nice house and children.  Four children she wanted, and she would have made an amazing mum.  I am missing out on grandchildren but they’re missing out on relationships and children and all that life has to offer.  Some days I just feel so much anger and it is awful to say but I envy my friends that their children have the lives I wished for mine.  It would mean the world if they could find a cure or treatment for Huntington’s Disease.  No-one should have to experience what my three children are going through."   

 The gene that causes Huntington’s is often called the huntingtin gene. It is attached to a chromosome number 4. It produces an important protein, called huntingtin, which is needed by nerve cells in the brain (neurons) and for the body’s development before birth.  In this image, the huntingtin protein is projected onto Lizzie.  When the huntingtin gene is faulty, the protein it produces repeats certain genetic sequences too many times. This in turn appears to damage neurons in certain areas of the brain - although how and why this happens is not yet fully understood.

The gene that causes Huntington’s is often called the huntingtin gene. It is attached to a chromosome number 4. It produces an important protein, called huntingtin, which is needed by nerve cells in the brain (neurons) and for the body’s development before birth.  In this image, the huntingtin protein is projected onto Lizzie.

When the huntingtin gene is faulty, the protein it produces repeats certain genetic sequences too many times. This in turn appears to damage neurons in certain areas of the brain - although how and why this happens is not yet fully understood.

Huntington’s disease is an inherited illness caused by a faulty gene in your DNA (the biological ‘instructions’ you inherit which tell your cells what to do). If you have Huntington’s, it affects your body’s nervous system – the network of nerve tissues in the brain and spinal cord that co-ordinate your body’s activities.  It can cause changes with movement, learning, thinking and emotions. Once symptoms begin, the disease gradually progresses, so living with it means having to adapt to change, taking one day at a time.  

Every child conceived naturally to a parent who carries the Huntington’s gene has a 50% chance of inheriting it. You can live with the faulty gene for years without symptoms, but if you do have it, at some stage you will develop symptoms.  It is impossible to know when these will start.

Huntington’s disease affects both men and women and usually develops between the ages of 30 and 50, but can start at any age. If you develop symptoms before the age of 20, this is known as Juvenile Huntington’s disease.  There is no cure at this time.

For more information or support please contact www.hda.org.uk. 

If you wish to discuss this project or reproduce any images or story, please contact ceri@samebutdifferentcic.org.uk.  The photographer on this project is Ceridwen Hughes (www.ceridwenhughes.com)

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But you just press a button don't you?

As more and more people have access to cameras there are more opportunities than ever to take photographs which is wonderful.  The down side is that people assume this is the way all photos are created, in two seconds and with the click of the button.  This is why so many people believe that photography cannot possibly be art, can it!

I thought I would write this article to explain a little about the process of putting together just one image in the Rare Beauty series.  The idea for Rare Beauty came to me around 2 years ago.  Having spent so much time in hospitals with my youngest son, Isaac who has a rare disease, I knew only too well how sterile and scary these settings could be.  I wanted to encourage people to want to know a little abut the people who have rare diseases and also to appreciate that the impact of these conditions is far wider than just the individual involved.  The difficulty was to bridge that gap and encourage people who had no idea about rare diseases to want to know more and to ask questions.

I can’t remember exactly what made me marry together the idea of beauty and the hospital setting but I just knew that people turned away from images that were distressing.  Once I had the seed of an idea I needed to get a clear idea in my head of what the images would look like.  I like to be able to visualise as much of the images as possible so this meant spending hours and hours researching.  At the beginning of a project there are so many questions that need to be answered before even thinking about taking a photograph, not least who would be in the images and where would it take place.  I often like to do a test shot that allows me to get a clear idea that will set the scene for the rest of the project.  This test shot is important on many levels as not only will it let me turn an idea into an actual photograph but it also gives me something tangible that can be used to secure funding in order to carry out the project on a wider scale. 

Over the years we have built some really close friendships with people who are equally passionate about rare diseases.  One such person is Isaac’s plastic surgeon, Dr Fattah.  He has been amazingly supportive over the last few years and so he immediately came to mind for the test shot.  One place that people often feel incredibly anxious about is the operating theatre and as such it seemed like the natural place to start with a test shot.  It is somewhere that many people with rare diseases find themselves and is often seen as scary, sterile and unknown.  Having an idea and putting it into practice is not necessarily straightforward but working with people who are excited by an idea is half the battle.  I called Dr Fattah and explained what I wanted to do.  He loved the idea and offered to help as much as he could.  I put my request in writing and this started the ball rolling so that he could then forward it to his colleagues at Alder Hey Children’s Hospital.  From starting with an idea to taking the test photo took 6 months.  It was an amazing opportunity to be given access to the operating theatre and the photo we created was far better than I had dreamed.  Once I had the test image and had created the portraits and interviewed the participants my idea started to take shape.  I knew that the concept would work in practice and could now source funding.  The actual sourcing of funding is a whole other story but we are incredibly grateful to the organisations who have had enough faith in our concepts to provide us with the resources we need to take a project from concept to reality.

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With the test shot completed, funding in place I now had to start the process again in terms of location sourcing, identifying the people with rare diseases to take part along with the staff and ultimately creating the story I wanted to tell through the images.  For some time I had wanted to work on a project with Dr Larissa Kerecuk from Birmingham Children’s Hospital as she is a truly inspirational doctor.  Dr Kerecuk is the Rare Disease Lead for the hospital and as such she was also happy to work with me on this project because she recognised the importance of raising awareness of the impact rare diseases has on the wider community.  The logistical difficulties created by the location caused many issues not least because we are based a 4 hour round trip away.  I had a clear idea for one of the first images, as I wanted to start the project with another operating theatre scene, but this time in Birmingham Children’s Hospital and with a general surgeon.  Dr Kerecuk helped us identify the rare disease patient and the medical staff who kindly agreed to participate.  I was sent images of each person to help me work out clothing and visualise how the scene would play out and was briefed on the background story.  Having chatted with Dr Kerecuk and her lead nurse in advance we knew which stories were important to cover and this helped with the patient identification.  For this scene we were working with Olivia and her mother.  She was 17 at the time the photograph took place and had an undiagnosed condition that had meant she was extremely poorly.  She had undergone many operations and was unable to take any liquid or food orally.  Her extremely complex condition meant she had a very strong bond with her medical team and as such her surgeon had readily agreed to take part too. 

Most images we would be taking were complicated by the fact it was a working hospital, and a very busy one at that, that was 2 hours away from where we were based.  We also had to work with minimal equipment and lighting due to the environment and also a lack of parking close to the hospital added to the difficulty.  With an extremely tight timescale we knew we would be going to have an incredibly busy day in Birmingham.  We had planned the schedule to allow us to photograph the operating theatre scene, take portraits images of those involved against my portable black backdrop and complete video interviews.  We had also agreed to meet the grant funder’s PR staff who was travelling down from Manchester specifically to meet with us.  We had a 3 ½ hour window to complete it all as the nurse had come in from work before her shift and the surgeon had come in on his day off.  Olivia also had to take her medication and we could not keep her too long as the process would be exhausting for her.  It was the first day of photographing and as such we knew it would be difficult but had tried to plan it as much as we could.  We had been allocated an operating theatre, everyone knew what time we were starting and the image I wanted was firmly implanted in my head.  This is where best laid plans ensure you can really think on your feet.

Tim, my assistant, and I set off for Birmingham at 7am allowing us 2 hours to get to the hospital and still have an hour and half in hand to get set up and gather our thoughts.  Typically traffic was horrendous and our journey was far from straightforward and so it took over 2 ½ hours.  Parking at the hospital is notoriously bad and so we had to carry a huge amount of equipment from the nearest car park (which believe me is not near).  Even with our slimmed down kit there is backing paper, tripods, camera’s, lighting and clothing weighing us down.  Both Dr Kerecuk and the nurse who had been assisting us were in meetings when we arrived and so we made our way to the operating theatres.  Our extra time allowed had disappeared and so it was time to meet up with the team who were in the photograph, including Olivia, her mum, the surgeon and the scrub nurse.  It was at this point our first difficulty (and possibly the most stressful) arose, the operating theatre we had been allocated was in use because a trauma patient had come in and there was not likely to be another theatre free all day.  The senior nurse in charge suggested we could use the resus room but as this was a busy area and had patients coming through it who were extremely poorly it just was not an option.  Looking around I also could not see how it could work from a photographic perspective.  Everyone looked at me for an answer and I knew that we had to find a solution and fast.  I spoke to the nurse in charge again and she kindly offered to search for another location for us based on the type of scene we were trying to create.  Whilst she was looking I received a phone call that increased my stress levels further. 

The day before I had waved off one of our exhibitions as it was travelling to Switzerland to highlight Rare Disease Day.  It was due to arrive on the day of our photo shoot and was to be set up for an exhibition the next day and for the subsequent week.  The customs in Germany were refusing to allow the driver through the border into Switzerland without an Eori number.  An Eori number is required when exporting goods outside the EU but we had not been asked to provide this.  The customs official said I had to provide this number before the driver could continue.  To get this number you have to complete documents on the HMRC website but I had no access to my files, I had a team of people waiting for me and the only other person who could help was tied up in a meeting for the next few hours.  I made several stressful calls and just had to continue with the work in hand knowing that some poor courier was sat waiting with the exhibition until we could complete the paperwork.  I was also very much aware that the exhibition had to reach its destination that evening if it was to be in place for the event the next day.

A room was located and whilst it was nothing like an operating room I looked around and tried to visualise a way that we could feasibly make it work.  It was difficult because the whole scene had to be changed and we had to move some items out of the room to make way for a bed and also we had to borrow additional equipment from another location to make the scene work.  It never ceases to amaze me how kind and helpful people are during our photo shoots.  The whole team worked together to ensure we could completely change the scene and still create an image that would allow us to tell the story whilst doing so in an extremely busy environment.  Working in a very hot and cramped space we set the lights up and finally pressed the button on the camera to capture the image.  Some 24 months after the initial idea started to form and many hours of research and hard work allowed us to capture the images to tell Olivia’s story.

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As soon as the scene images were captured we had to race to another location in the hospital and set up a studio background and lighting to allow me to take the portraits and carry out the video interviews.  Because it is a working hospital we were again faced with a room that had been allocated but was then needed as a treatment room and so after further searching we set up a temporary studio.  In the meantime, I had received several more phone calls from customs and urgently needed to address that issue whilst also being aware I had a meeting with the PR from the grant organisation who was sat waiting to meet with me.  To say the stress levels were high was an understatement and thankfully an Eori number was finally given to customs and the temporary studio was in place to allow me to complete the images and interview.  Later in the day we had to start the process again as we had planned on completing two scenes that day.  When we finally left Birmingham much later that evening to start the 2 hours journey (that became 3) home we were utterly exhausted and knew there would be man hours of transcribing the video interviews and processing the images left to do in the coming days.  We also had many other scenes to plan and carry out to complete the Rare Beauty series.  I wouldn’t change a thing though as I feel incredibly privileged that we are allowed into people’s lives and they trust us with their stories.  Whether you think photography is art or not I hope this snapshot into our day helps to demonstrate just how much work can sometimes go into creating just one image.

You can see the images created for Rare Beauty and read the stories here.

Rare Beauty - Undiagnosed 2

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“Taye has an undiagnosed condition.  After he was born I had a feeling that there was something wrong as he was having fits but it was hard to explain this to the hospital.  He was about 7 months old when the hospital understood there was an issue because he had a seizure whilst in one of the Doctor’s arms.  He had been having these seizures since birth, but from my explanation of what was happening to him, they did not recognise it as epilepsy.

Taye has seizures, he has epilepsy, developmental delay, he can’t sit up or walk and he doesn’t talk, he babbles.  There are signs of cerebral palsy and his brain has too many folds (polymicrogyria).    He has quite a few seizures throughout the day and when this happens I have to pick him up and carry him around.  He gets upset but it is hard because I don’t know what he wants, I just have to guess what is wrong with him.  He eats well although it is a blended dinner as he can’t eat solids.  On top of generally looking after him, he has to have medication, morning, afternoon and night so there is always something to stay on top of with him. 

I cope by just getting on with it.  Obviously I have my days or weeks where I just want the situation to be over and done with but at the same time I just take each day as it comes.  There is always going to be a new problem, a new issue, so I just try and stay strong and deal with each issue.  He goes to Acorns and we get 16 days a year.  We also have someone from outreach and they will watch him for a couple of hours so I can get stuff done like food shopping but that is only once every couple of weeks.  That is all the help I get at the minute.

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My life is completely different to how I thought it would be when I was pregnant.  You never expect it, especially as I am young.  I don’t smoke and I didn’t drink when I was pregnant so it was a big shock especially because they have no answers about why or what happened.  It was a shock.  It still is a shock.  It is a terminal illness but because his condition is so rare they can’t give me an age or anything on how long his lifespan is going to be.  From what I know it will not be past teenage years.  I had counselling when he first got diagnosed.  I found that helped for the first day or two but then I go back home back to reality so it did not really help.

I never get to switch off or forget about it because I am constantly doing medications every single day, I have to dress him every day and watch him have seizures every day so there is no forgetting.  It has just become normal.  Obviously if we go shopping or out places people can see that there is a problem with him so then I get asked questions when we are out and about.  There is no time to just be what you would call normal. 

I think it is so important to raise awareness of rare diseases.  If more people knew about rare diseases I think they would think more about the parent rather than just ask questions like ‘why can’t he sit up and what is wrong with him?’.  It would be great to get more awareness in schools because when he had a tube on his face we had to deal with lots of questions and curiosity.  It wouldn’t then make me as a parent feel uncomfortable because you do feel a bit awkward.”

The Rare Beauty project has been designed to encourage people to want to know more about what is happening in the images.  We have introduced beauty into every day scenes that people with rare diseases find themselves and through these images we will tell the story of the people, their families, friends and hospital staff involved in their care.  We are grateful to BBC Children in Need for their support and to Birmingham Children's Hospital for their assistance. 

You can read about a consultant's perspective to rare disease by clicking here.

If you wish to discuss this project or reproduce any images or story please contact ceri@samebutdifferentcic.org.uk.  The photographer on this project is Ceridwen Hughes (www.ceridwenhughes.com)

 

Rare Beauty - Surgical Developments

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When your child is born with a complex medical condition decisions regarding which treatment route can be extremely difficult.  With Callum's condition his parents had to make the difficult decision to allow surgeons to perform a new technique in spinal surgery, for the very first time, in Birmingham Children's Hospital.  Callum's father Peter Read explained how fortunate they feel to have been in the right place at the right time.

"Callum was born with Kyphoscoliosis which means he has not only a curve but also a twist of the spine.  He also has some ribs missing too from birth and he has an operation to try and correct that on a regular basis.  They discovered this when he was in the womb from a scan where they could see there were some anomalies.  They carried out further investigations and realised that he had some form of scoliosis.   It meant that the pregnancy was not the smoothest and it obviously caused a lot of heartache and stress for me and Callum’s mum, Lucy.  We were lucky that we were in Birmingham because we had two fantastic hospital’s nearby in terms of Birmingham Children’s and also the surgeon’s that came to carry out Callum’s operations on his spine are from the Royal Orthopedic in Birmingham.  It was the right place and also the right time because they had developed a new form of operation in a children’s hospital in Texas that they were just about to trial in Birmingham.  Callum was the first baby to have that operation done.  It meant they put titanium rods into his spine to support and try to correct the twist and the curve.  We were very lucky in lots of ways.  It is a very rare condition and we have never met anybody else with this condition and we are in hospital a lot.  

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From an outsiders perspective Callum looks absolutely fine, just slightly small for his age but that can happen to lots of children for any number of reasons.  The Kyphoscoliosis isn’t apparent to anybody who doesn’t know about it.  In that respect he is treated completely normally.

More awareness of rare diseases is really needed.  In a lot of cases it might be obvious to people that a child has a rare disease of some sort but this is not always the case.  It is important that they have a support network that they can rely on allowing them to talk about the experiences they have been through, not only the children but parents and their siblings too.  The Rare Disease Centre at Birmingham Children’s Hospital will really help with this when it is open.  

 Callum's father, Peter

Callum's father, Peter

We have been very lucky in the support we have had from our employers and this has been great.  We always felt that we wanted to be with Callum in hospital and the good thing about the children’s hospital is that one parent can stay with the child overnight and we have always done that.  Our employers have been very helpful in giving us both the support we needed through flexible working when required.  

In terms of the emotional impact I think that mother’s do have it worse because sometimes guilt and that associated side of things.  The pregnancy was very difficult, for Lucy in particular, but we do talk and support one another.  The hospital has been great at helping us too and we knew what we would be facing in advance.  It really helped."

The Rare Beauty project has been designed to encourage people to want to know more about what is happening in the images.  We have introduced beauty into every day scenes that people with rare diseases find themselves and through these images we will tell the story of the people, their families, friends and hospital staff involved in their care.  We are grateful to BBC Children in Need for their support and to Birmingham Children's Hospital for their assistance. 

If you wish to discuss this project or reproduce any images or story please contact ceri@samebutdifferentcic.org.uk.  The photographer on this project is Ceridwen Hughes (www.ceridwenhughes.com)

Rare Beauty - Against the Odds

 Barry with Play Specialist, Rebecca, at Birmingham Children's Hospital

Barry with Play Specialist, Rebecca, at Birmingham Children's Hospital

When I meet families I am always so touched by their courage and strength and Barry's mum was no different.  Her pregnancy was extremely stressful as they were aware that her son had issues from early on.  She has had to draw on the strength from within and those around her many times in their rare disease journey so far.  Amy, Barry's mum kindly shared their experiences.

Barry has Hypophosphatasia (HPP).  HPP is a rare genetic disorder characterized by the abnormal development of bones and teeth. These abnormalities occur due to defective mineralization, the process by which bones and teeth take up minerals such as calcium and phosphorus. These minerals are required for proper hardness and strength. Defective mineralization results in bones that are soft and prone to fracture and deformity.  (Source: NORD)

I did not know there was anything wrong until the 22 weeks scan.  They said there was an abnormality but they were not sure exactly what the issue was.  From this initial scan they thought that Barry’s bones and his hands and feet were affected and so they arranged for us to have another consultant scan.  At this point they really did not know what the issue was and suggested several things they thought it might be.  This started a huge round of tests including an amio and genetic testing but they all came back negative.    
Even though they did not know what condition Barry had it was suggested that we consider a termination because of the severity of his condition.  They gave me the name of one of the suggested diseases and the first thing we did was search on Google.  It was a really severe disease but that test came back negative too.

It was an incredibly difficult time because the advice was that we really should end the pregnancy even though they did not know the cause of Barry’s issues.  As a family we found it to be an extremely traumatic and difficult decision.  I found it impossible to do and so we had continued to have weekly scans.  At the 28 week scan they once again asked if I wanted to end the pregnancy and it really hit home to me how serious they thought his condition was to still be offering this option.  

By this time my bond with Barry was very strong.  It felt like every time he knew I was seeing the consultant he would kick me really hard.  I just could not terminate the pregnancy.  When he was born I had to have an emergency caesarean.  They held him up to show me but then took him away straight away to put him on a ventilator.  He was extremely poorly and our hospital in Leicester were struggling to treat him.  The consultant sent out emails to all the hospitals asking if anyone had experience of treating a condition like Barry’s.  It really was his one and only chance to survive.  

Birmingham Children’s hospital responded to say that they had experience of his condition and there was a new medication that they could try.  We were transferred to Birmingham and they started treating him.  Those first few months were really scary.  There were many times that the nurse had to press the emergency buzzer and each time I would will Barry to breathe.  I would just say over and again “Look at mummy Barry and breathe”.  I felt he would look at me and he would hold on.  The new medication has really improved his condition and the x-rays look much better now than when he was born although he is still a very poorly little boy.

When people ask me about his condition I just explain that he is special and that he was poorly but he is now getting better.  I just try to be positive.  It is very important to raise awareness of rare diseases.  If we share our experience then perhaps if another child is born with HPP they will know how to treat them.  It is also important for communities like ours as in the old days the Chinese community has not always been so understanding of rare diseases.

Emotionally it has been hard to cope with Barry’s condition. You just can’t think about it.  My mum warned me that I needed to be prepared for a difficult journey if I chose to continue with the pregnancy and that I had to be aware that I might see him suffering.  I said that I know but at least I gave him a chance.  If he doesn’t survive then perhaps it is what God wanted.  I tried to be positive because the bond I felt with him when I was pregnant was so strong.  We try to fight together, doing everything day by day and we will overcome it all and try to become stronger.  
 

Rare Beauty - Lab

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James Taylor is the laboratory manager for Biomedical sciences at Birmingham Children’s Hospital.  We chatted to James about his team's role and how his department is a mystery to many people.  As with many departments behind the scenes there is often little thought given to the people who work in these key roles and yet they are there in the background working tirelessly on behalf of patients and their families.

"The team’s job is to perform diagnostic pathology tests on patients.  We do all kinds of tests including some DNA testing where we screen genes for some disorders.  For some of the more rarer diseases we send the sample to the specialist referral laboratories.  

We only see a blood tube so in effect they are our patient.  We get satisfaction from knowing that the results we provide are accurate results and they are in time for the patient as well.  

Building relationships with the patients is really beneficial and it is something we are exploring.  Over the last 15 years there has been a move away from patient contact for lab staff to the point where we do not have any patient contact now.  Meeting patients brings it all to life and it helps take it beyond being just a blood sample.  It focuses the mind on why and who we are doing this for.

When the new Rare Disease Centre opens it will be situated right next to the laboratory block.  Our biggest workload is the haematology and oncology, and that is going in the block too, so we are going to have quite close links.  It is really exciting.  

Awareness of rare diseases is important for everyone and that includes our department.  Our knowledge at the moment is very much we will treat that patient and send it away to a referral laboratory but any more than that and it kind of stops there.  This is something that we will be addressing.  We are passionate about what we do and seeing the difference our role makes in diagnosis and treating the patient is really rewarding."

The Rare Beauty project has been designed to encourage people to want to know more about what is happening in the images.  We have introduced beauty into every day scenes that people with rare diseases find themselves and through these images we will tell the story of the people, their families, friends and hospital staff involved in their care.  We are grateful to BBC Children in Need for their support and to Birmingham Children's Hospital for their assistance. 

If you wish to discuss this project or reproduce any images or story please contact ceri@samebutdifferentcic.org.uk.  The photographer on this project is Ceridwen Hughes (www.ceridwenhughes.com)

Rare Beauty - Undiagnosed

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We met Aidan at Birmingham Children's Hospital when he came to visit Dr Larissa Kerecuk.  She had known him since he was a baby and initially worked at the hospital where he was a patient.  The family have kept in contact over the years and she has introduced them to the 10,000 Genome Project in the hope that they can find answers as to why Aidan has his conditions.

His mother, Natasha, explained how complex his condition is and how lack of awareness made it difficult to access the right medical care in the early days. 

"Aidan is 14 years old.  He has cerebral palsy, he is epileptic and also has a syndrome called worster-drought syndrome.  The cerebral palsy for Aidan is only very mild.  It affects his legs and his feet which means that he can’t walk long distances.  His epilepsy is, on the whole, under control but it can happen at any moment, day or night.  The worster-drought syndrome is more complicated because it affects his speech and his swallowing.  His airway, when he was born, was completely shut so he was basically suffocating himself and he needed a tracheostomy.  During this time, I nursed him at home for two years, caring for all his needs 24 hours a day.  

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At its worst I have seen Aidan go varying colours from blue to purple where his oxygen saturation went down to the point that he needed to be resuscitated.  He stopped breathing many, many times and has been in intensive care too many times to count.  

Aidan has had 21 operations, mainly just to reconstruct his airway, because his body’s natural reaction is to shut it down.  His airway completely collapses so he had a man-made one put in.  They took some rib cartilage and rebuilt around it, which is amazingly clever.  For him it was just a matter of waiting to grow, because he was born 7 weeks early.

 

It was a horrendous time and I would constantly worry about him.  I nearly had a breakdown from the stress we were under because I was only sleeping 2 hours a night, every night.  I could have been up 30 – 40 times a night because I had to suction his tube.  I had to make sure his airway was clear at all times.  If it dried out it blocked and I had to change the tube.  I literally had 30 seconds to whisk the one tube out and put a new tube in.  He also had an NG tube and he used to pull that out every time he cried because he could hook it under his finger and whip it out.  I then had to insert it back in.  So yes it was hell, absolute hell.  

We have extremely good family support.  My husband works shifts and so when he was on nights they used to take it in turns coming over and sleeping in our house.  It meant that if I had to do an emergency tube change they were there to assist.  Other than their support we have had no other help at all, there was nothing.  Now they have a whole care package.  They have respite, they have people coming in, they have all-sorts but in those days they had nothing, absolutely nothing.   It was horrendous, it really was horrendous.   

 Natasha Hawley, Aidan's Mum

Natasha Hawley, Aidan's Mum

Awareness of rare diseases is very important.  In the early days when he was in hospital we were in a ward where there were 6 or 7 people all with a tracheostomy and you looked around and thought ‘ooh they are all the same’.  You would then go back to your own area and because the hospitals don’t specialise in that particular field Aidan was often the only child they had come across with a tracheostomy.  We ended up having to show the nurses how to do a weekly tube change.  

On occasions we would have lots of student nurses watching us do it so in theory we were parents who had no medical training, training nurses who had never seen this sort of thing before.  Having more awareness is very important.

We have had to fight many battles over the years and some of those have been with nursing staff who just would not accept that we had more experience with his care.  It reached a point where I just didn’t leave his side because I couldn’t trust the staff to know how to treat him.  Even now it is still instilled in me and I worry ‘what are they going to forget to do or what are they not trained to look at?’  

It can be difficult for people to understand how severely Aidan’s condition affects him because outwardly he looks so well.  Before I had Aidan I was very shy but you get to that point where you realise you have to speak on behalf of your child and sometimes you have to shout out for them.

The Rare Beauty project has been designed to encourage people to want to know more about what is happening in the images.  We have introduced beauty into every day scenes that people with rare diseases find themselves and through these images we will tell the story of the people, their families, friends and hospital staff involved in their care.  We are grateful to BBC Children in Need for their support and to Birmingham Children's Hospital for their assistance. 

You can read about a consultant's perspective to rare disease by clicking here.

If you wish to discuss this project or reproduce any images or story please contact ceri@samebutdifferentcic.org.uk.  The photographer on this project is Ceridwen Hughes (www.ceridwenhughes.com)