Blog

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

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)

 

Rare Beauty - Daycare Ward

Nicky Lewis is a clinical support worker on medical day care.  This department looks after children who are just coming to the hospital for the day and are receiving medicines as opposed to having operations.  She explains how patients having rare diseases can impact on the team.

"In our department we see lots of different types of conditions.  We have a lot of children with crohn’s disease, children who come in with missing enzymes, where they need replacing with infusions and other rare metabolic and rare diseases where they are not forming or not growing properly. 

When a child comes to us with a rare disease it certainly makes it more challenging.  It is nice though to see them come in and get the help they need to lead as much of a normal life as they possibly can.

Rare disease can have a huge impact on families.  Sometimes they can feel like they have not got the right support because people do not understand the condition.  There can often be limited amounts of information around because of its rarity and families can feel isolated.

More awareness would be helpful because they would realise they are not the only ones out there.  It brings the families who are suffering, or knows someone who is suffering, it brings them together.  They have more of a support network.

Having a rare disease can affect the type of treatment.  Every child is different and some of them have different needs for treatment.  You don’t always know how the body is going to react so they have to see if it suits that child and if we need to change doses and put it up or down and try different things.  It does make it quite challenging for them. 

Project like Rare Beauty help raise awareness in communities and people don’t feel like they are on their own, battling and struggling feeling that no one really understands them and what they are going through.  Projects like this do raise awareness and bring it more into the public eye so people know more about it and have more understanding.

When people come in for treatment and they see others in the same situation it is helpful because they realise they are not the only ones and that other kids come in, have their treatment and go home the same as they do. 

When you are having a bad day you just remember all the children who come through the doors and all the positive stuff.  That one bad day is just one of hundreds and hundreds of days working here that are good, so it is just one bad day.  I remember all the good I do on here and laugh, smile, talk to the kids.  That is what you do when you are having a bad day.  You have to keep pushing forward."

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 surgeon'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 - Ultra Rare

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Imagine if you are the parent of a child with multiple rare diseases and you find that your child is the only one in the world with those complex conditions, how would you cope?

We recently met Amara and her mother Reena when they kindly agreed to take art in Rare Beauty.  Their resilience and strength was obvious from the very first moment we met.  Reena shared with us what it was like to be an ultra rare mum.

"Amara has a number of rare complex conditions and the list is quite extensive.  Prior to her being admitted into hospital at 9 months, we were unaware that there was anything wrong, and it was only then that some of them were revealed.  They are all congenital, although we did not know.  She was admitted because she was in extreme pain and presented with tetany where her hands and feet were in spasm and she was unable to move them.  As a mum I just knew something wasn’t right.

We ended up in hospital for four months and it was quite critical.  They did some investigations and slowly her conditions were revealed and they seemed to multiply.  During that time in hospital she became critically ill and ended up on intensive care on life support and then she was on high dependency ward afterwards.  Amara has a range of treatments for her conditions and one of those is an albumin infusion because she lacks them.  They also discovered that she has a disease in her gut and so she had parenteral nutrition (PN) which is intravenously feeding because she was failing to thrive."

"I would struggle to say exactly what Almira’s conditions are as they are so extensive and complex.  This is the other challenge we face because there is no other person in the world we know of with Amara’s combination of diseases.  We are in no man’s land.  It is hard, it is really, really difficult to cope with.  The not knowing and my brain is constantly thinking about what is wrong with her, what is the right treatment, what is the right route to take because there is not anything to go by.  There isn’t a protocol to follow like you would with a patient with a typical disease. 

Everybody we meet including her consultants say that they do not know how to treat her multitude of conditions.  I ask questions and I know that they won’t have the answer but I still ask them to explore.  I do a lot of trying to solve it myself.  I didn’t have a medical background at all but I do now, I think."

"To be a parent of a child with rare diseases and to know that you are responsible for healthcare decisions is challenging, it’s really scary.  Often after an appointment we will have time to think.  The consultants can only advise based on their clinical expertise but then I have to consider Amara as a whole.  I look at her quality of life, her medical problems and it is complicated because she has so many conditions and that by rectifying one, the others are sometimes destabilised, and this is what I battle with.  When I sit down with a consultant I discuss the remedy for just one condition and I have to think about all the other issues she has.  She has a number of consultants all with different specialties and not an across the board one which is the role I feel I have to do.  Her specialists are not all in one location and we have never had a complete team meeting involving all her conditions. 

As a parent I have to constantly think about the whole picture and it is very complex.  Because I do not have a medical background then my opinion is not always given the weight it should be."
 

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 surgeon'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 - Anaesthesia

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Nuria is one of the paediatric anaesthetic consultants at Alder Hey Children’s Hospital.
She kindly took part in the Rare Beauty project and chatted with us about her experiences of working with patients who have rare diseases.

‘At Alder Hey we are a specialist centre and we see many patients with rare diseases and so it really almost becomes normal.

As an anaesthetist we need to know the pathology quite well before anaesthetising and whilst rare diseases bring their own challenges we are fairly used to treating people with them.   If someone has a really, really rare condition we carry out research to understand more in advance.
We often use an online resource for additional information but if the condition is not covered we would speak to colleagues who may have more experience of that particular condition.

I think it is important that there is more awareness of rare diseases because when you look at the number of people affected it is a surprisingly large percentage of the population.  In specialist hospitals like Alder Hay there is a good understanding and awareness of rare diseases but it is not necessarily the case for all hospitals.  Technology really helps people research these days though.

As an anaesthetist we often have a close relationship with families.  Whilst the surgeons tend to do all the follow ups, we see the families before the anaesthesia and after the surgery.  It is important that we work closely with the family to put a plan in place for putting the child to sleep.  Our role with pre-op assessment, in particular, is quite important because we are often dealing with emotional families who have anxieties about the surgery and the anaesthesia.  I think it is quite important to build a level of trust with the family and come up a plan that works for everyone.  For example if a child is really scared of needles we can just use a mask and ensure that is part of the plan.  We then will keep an accurate record of what we did and how it worked so that we know what worked well for that patient for the future.’

We asked Nuria how she coped with a difficult day at work and her response was truly heart-warming and really emphasised what a caring profession it really is.

‘It is quite hard to switch off after work to be honest.  I always tend to think all of my patients as if they were my family, my relative, and I ask myself what I would like for them, how I would like them to be treated.  At times when you come across really difficult and sad stories it is just hard to switch off.   I like to spend time out of work with my family, my partner, and by doing hobbies, but at times it’s very hard.  You just can’t help but put yourself in that position of the child or those parents.  It can be very hard at times.’

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 Alder Hey 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 - Plastic Surgery

Dr Adel Fattah is a consultant plastic surgeon at Alder Hey Children’s Hospital in Liverpool and has a special interest in facial palsy and microsurgical reconstruction.  He has been instrumental in the establishment of a specialist team approach in the treatment of Moebius Syndrome at the hospital. 

At Alder Hey Children’s Hospital we see children from a wide geographic area and as such treating children with rare diseases is not unusual.

‘From my perspective the best way to deal with a rare disease is to try and find people who have experience in it.  There are so many rare diseases you can’t be experts in all of them but you can usually find someone with more experience if needed.  For myself it’s something called Moebius syndrome and we have tried to build a team approach that allows us to see as many patients as possible.  We are able to concentrate on different aspects of their care which might include a speech therapist, a psychologist, a geneticist, all look at different facets of the treatment and care of the child.  I would love to see this approach adopted for every rare disease but in the real world we have limited resources. However, many diseases have similar issues and so certain groups of rare diseases could be considered together in clinics, with a similar approach.

If we are faced with a condition that we really do not recognise that may be extremely rare then we occasionally contact colleagues around the world saying these are the features that we have, have you seen anything like this? And there are patients who are true one offs they’ve never been described before and these are the rarest of rare diseases.

I love treating rare diseases because my background was as an embryologist.  I was interested in all disorders of embryology and growth and things like that, so I’ve always been interested in diagnostic processes and why these things happen.  I think each doctor will have their own specific take on how they react to rare diseases. For me it’s very mechanistic, why does it happen and how can I fix it or find out more about it.

If I was to advise other consultants with regard to treating patients with rare diseases I would recommend treating the urgent things first, go back to basics and never hesitate to seek advice elsewhere. That’s pretty much it really.

You have to switch off from work so outside interests are really important.  Sometimes you just can’t because certain cases, certain patients really affect you.  You’ll be sitting there late at night and they will pop into your head and you’ll think what can I do or how could I have done that differently or can I try something else, so as a doctor you should switch off but it is not always possible.’

Surgery is a mysterious world to most of us and we often place surgeons on a pedestal but what happens if they have an off day?

‘There is a big team of people who usually work together and for most complex cases there is often more than one surgeon. If you’re having a bad day you just have to put that to one side.  Actually it is very interesting that when you’re physically operating everything else goes out your mind and you become very focused just on the task.  Perhaps It is a surgeon thing, where you just clear your mind of everything else that’s not important to what you’re doing at the time, I’m not sure.  I don’t know why but I’m glad it does.

We asked Dr Fattah about rare diseases and their impact and if he believes awareness is important.

Because rare diseases don’t affect most of us why should anybody care?  But you know this is something that’s really important, and it’s not part of just about rare diseases, it’s about equality for everybody.  We talk about equality for race, gender, sex all that kind of thing. We have the Paralympics which is a great showcase for people who are disabled and they show that with support in the right areas you can achieve pretty much anything you want. If you want to win a gold medal then there is nothing to hold you back, so In the same way Rare Beauty is a project that highlights this to the general population to say hey you know what just because I have a rare disease doesn’t mean I should be confined to the dustbin or anything like that.  I’m a human being too and I have needs and with the right support I can achieve or maximise my potential and so for that reason.  I think it’s important we all know about rare diseases.'

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 Alder Hey 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 - Isabella

Isabella is full of energy with a mischievous side. Due to her facial paralysis she struggles to be expressive but has her own unique way of showing when she is happy or sad.
 
Isabella was diagnosed with Moebius Syndrome at 8 months old. A rare congenital disease which causes paralysis in some of the cranial nerves. This means Isabella is unable to frown, smile or blink, she is also unable to move her eyes from left to right, which affects her co-ordination and balance. When Isabella was younger she was fed through a feeding tube and had low muscle tone and vocal palsy, so she never really cried or made any noise. She also has Hydrocephalus which means she has excess fluid on her brain, although they are not sure if this is caused by Moebius Syndrome.  Her mother, Carla explains what impact the condition has had on their family and why awareness of rare diseases is so important.

‘When Isabella was a baby she was in the special care baby unit because of her feeding issues.  She was extremely poorly and the doctors used to give us the worst case scenario.  Each time I went in I did not know what would be waiting for me.  They were initially concerned that she might never leave hospital but slowly she improved and was well enough to go home. 

The hospital did not give us a diagnosis and it was only through my own online research that I came across moebius syndrome when she was around 8 months.  It sounded just like her symptoms and so I took the information to the Dr and they agreed that Isabella had moebius.

Isabella has Moebius Syndrome

Isabella has Moebius Syndrome

When a condition is extremely rare, as is the case with Moebius Syndrome, there is not always a support organisation to offer advice and guidance when someone is diagnosed. 

'The impact on us as a family has been huge.  I am constantly worried about the future.  When you have a child you are always thinking about what they will be when they are older, who are they going to look like and so on.  Now my worries are different and it really does turn everything upside down.

Before she was diagnosed I always knew something was wrong, Jed used to say she was perfect but deep down I knew something was not quite right.  She didn’t move like other babies, she didn’t move her eyes, she didn’t cry, she didn’t do any of those things.  When we got a diagnosis and started telling family they took it really well but I don’t think they really understood what it meant.  I think maybe they thought it would get better but to me it was as though my world had fallen apart.

Isabella's mother, Carla

Isabella's mother, Carla

'My health visitor was a huge support.  The impact of her diagnosis was huge for me and I really struggled and was just at a loss about what to do.  I didn’t step outside the door for what must have been two years.  The health visitor really helped me by putting me in touch with the right people to support us

Awareness of rare diseases is extremely important for the general public and health professionals.  People can be curious about Isabella’s condition and that is fine.  I am happy for people to approach me and ask rather than stare.’

The family wanted to take part in this project to help break down barriers.  

Recognising that families affected by Moebius Syndrome often struggled to receive joined up care, Alder Hey Children's Hospital have set up a Moebius Syndrome clinic which brings together medical professionals from different services including plastic surgery, speech therapy and neurology.  This service is led by Dr Adel Fattah.  You can read about Dr Fattah here.

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 Alder Hey 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 - Orthoptist

Catarina Maporis is the head Orthoptist at Birmingham Children’s Hospital.  As part of the Rare Beauty project we spoke to her about how rare diseases impact on the work that she and her team do in the eye department.

“Depending upon what condition a child has, when they come into the eye department, they see a wide array of professionals which includes someone like myself, an orthoptist, the ophthalmologist and also an optometrist.  The information we gather will then create a bigger picture for us to be able to best manage that child depending upon what condition they have.  

In the eye department we have lots of specialist clinics.  Depending on what information we receive initially from the referral we will then allocate them to wither our general clinic or one of the more specialist ones, such as, metabolic clinic, a cranio clinic or glaucoma clinic.

We have a variety of specialist clinics.  We also have multi-disciplinary team where other professionals, outside the eye team, will sit and discuss about the patient’s care, about their management and come up with a treatment plan for them.  

If we have a patient with a particular rare disease we might need more information and we might pass on for second opinions.  We would do all the investigative tests to try and gather as much information and then refer on or try and get other people’s opinions with regards to how we diagnose the patient.  

You do get some anomalies’ when it is rare.  Our job is really to gather as much information as possible.  It is like a jigsaw where you are piecing pieces of the puzzle together to actually get the bigger picture and that is our job, to gather the information and try and come up with a solution.  

Projects like the Rare Beauty project are really important in helping to raise awareness of rare diseases.  The more information we give to people the better it is, not only for that child with the rare disease but everyone who comes into contact with them as well.”
 

Rare Beauty - Tyrese

Not all rare diseases are apparent from birth and in fact some symptoms can literally occur overnight and turn the lives of that family completely on its head.  This was very much the experience of Tyrese and his family.

Tyrese and his mum, Donna, explained how his rare disease diagnosis came completely out of the blue. 

"In 2008 when Tyrese was 3 he woke up one morning and was completely blind.  We took him straight to hospital and our initial thoughts was the worst thing a parent could think of, which was a tumour.  When we got to hospital they did lots of tests and we had to wait about a week for the results. 

The results came back to say that he had a very rare condition called Neuromyelitis Optica, (NMO), also known as Devic's disease, which is a rare neurological condition.  It most commonly affects the optic nerves and spinal cord. 

As we are today it has affected him quite badly, leaving him visually impaired and on very strong medication.  It has meant that we just have to take each day as it comes.

The diagnosis was life changing.  I was pregnant at the time so everything was just turned on its head.  At that time we hit rock bottom.  It really was devastating.

When Tyrese has a relapse it presents with lots of nerve pain and he can either loose the use of all his body or his vision.  When this happens, we have to go straight to hospital so they can start another form of treatment to help with the relapse. 

It affects his whole body, his central nervous system.  In 2010, he had a really bad episode and he was paralysed and in a coma.  It has taken a toll on his body.  He has been stable for a few years now with treatment and touch wood he stays this way. 

Tyrese's mother Donna

Tyrese's mother Donna

It was really hard to cope with his diagnosis.  I had a bit of a breakdown because you blame yourself.  This mother’s instinct thing that you blame yourself that you have done something wrong but because he has been happy, he has always smiled through the whole time, it made me think that life goes on and it is a blessing that he is here really. 

I find it quite hard to cope with the fact that his eyesight is so poor.  You see his peers going out on bikes and doing what they do at 11 years of age.  They go out and call for their friends, but with Tyrese we have not reached that stage where he can do that yet because he can’t just go to school on his own.  He is in senior school and he has to be taken there and picked up, brought back so Tyrese is limited what he can do independently.

As a full time carer I have to be there 24/7.  It is hard work but I want to let him start blossoming and going off doing things. It is going to be hard but I am willing to let him as long as he is safe.  He can ride a bike, ride a scooter, he plays football and he doesn’t let his disability stop him whatsoever.  He does it all. 

The impact on the family has been huge.  As well as Tyrese I have my daughter and my youngest son, Joshua, has autism.  He doesn’t have an understanding of Tyresse’s medical needs and so it is quite hard work. 

Because Tyrese is registered blind we have had to make a lot of changes at home.  Nothing is left out, everything is put away.  We have always been regimented about things and everything is always in its place.  We moved from a house to a bungalow and so everyone has their own room.  No-one is allowed in Tyrese’s room because they go in, and especially his brother Joshua, will go in there and move things deliberately. We make sure everything is clear and we don’t move things around and Tyrese knows the setting.  It means he can just be himself in the house and relax knowing it is safe.  We do a quick risk assessment in the morning to make sure nothing is on the floor.  He likes to sleep with the light’s on and I basically have to help him with things like showering and with food, telling him what is on his plate and basically just keeping him safe really.  I think for a parent is it an emotional thing isn’t it.  A big emotional rollercoaster that you are on. 

There is nowhere near enough awareness of rare diseases.  We feel like we have just been left.  We go to our own GP and they are like ‘who’s this boy then and what is wrong with him?’.  They don’t know anything about him and I ask can’t they read through his notes.  He has this complex rare condition and they could be giving him anything without checking.  You just get left once you are diagnosed and you are just left to Google!  You do a lot of Googling but that can be quite scary because sometimes horrible things come up and you think ‘Oh my gosh’.  You automatically think they are going to die straight away because you look but really you are looking at the worst case and you don’t really see the positive outcome.  You really want to see both sides but I have had to do a lot of stuff myself. 

The responsibility is huge but I have learned a lot.  I didn’t do that well at school and I find it hard for things to sink in but as soon as I heard about Tyrese’s condition I thought right I have to make it sink in and it has.  I know everything about it.  I think I could go and teach about it now because I have had to learn about it for him. 

Diagnosis of a rare disease can break families.  If you are not emotionally strong between either you or your partner, it can break family units up.  As a mother you feel you have to be strong for everybody.  You just feel like everything is crumbling because you are focusing on just that one thing.  AS I was pregnant when Tyrese initially was diagnosed it meant that I struggled to bond with my new baby.  It sounds selfish but I felt that my priority should have been Tyrese and his difficult medical needs.  He has been my main priority for a long, long time but now his condition is stable I have to focus on his brother’s autism because I feel he needs me more.  If Tyrese has a relapse we will address it when it happens but for now we will carry on living as normal as we can, because there is other people to consider as well.  He understands that his Mummy’s time is for everyone. "

He has been my main priority for a long, long time but now his condition is stable I have to focus on his brother’s autism because I feel he needs me more.  If Tyrese has a relapse we will address it when it happens but for now we will carry on living as normal as we can, because there is other people to consider as well.  He understands that his Mummy’s time is for everyone. "

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 - Consultant

Whilst working at Birmingham Children’s Hospital on the Rare Beauty project one of the most inspirational people we met was Dr Larissa Kerecuk, a Consultant Paediatric Nephrologist and Rare Disease Lead.  She works tirelessly to support her patients whilst being instrumental in promoting greater awareness of rare diseases and ensuring a holistic approach is adopted in their treatment and care.

Larissa kindly shared her thoughts and experiences of working with patients who have rare diseases and the journey that many face to get a diagnosis.

“Patients with rare diseases can often take a long time to get a diagnosis, and it can be misdiagnosed quite a few times as well.  Getting a diagnosis is the first step to accessing the right treatment, information and support.

I think in medical school we learnt to put puzzles together.  We learnt pattern recognition, and you just get a feel for something, with all the clues that you get, you test out theories of what you think it could be and what it can’t be.   I think it’s always really important to keep a really open mind.  One of the difficulties with rare diseases is that a doctor may diagnose something that is incorrect and then nobody challenges it.  Whenever I see a patient who is new to me I always take a step back and go right ok so how is this diagnosed? Who came up with it? And if it doesn’t feel right to me then I’m happy to challenge it and to pursue other diagnostic avenues.  It can be quite challenging.  It is great that we have now got the hundred thousand genome project, which is offering new hope to lots of families with rare diseases who’ve never had a diagnosis.  To live in a world with no diagnosis is a very, very hard world to live in.”

You build a close relationship with families on the diagnosis journey and there is always part of them, and a part of you that hopes it’s not going to be the worst case scenario.  Even if that proves to be the case then I try and make it as positive as I possibly can.  We look on the fact we actually have a diagnosis as something that is pro-active as we will be able to access the right information and treatment.  It can be an emotional journey for us all.

For me personally its quite hard to switch off.  I often think about things when I get home and am cooking dinner or driving.  I find that being in the garden and the allotment is when I reflect on a difficult day.  I really feel for the families when they are given a bad diagnosis, it really makes you appreciate everything so much more.

I think awareness of rare diseases is very important.  I think it’s always been the underdog of the medical world.  People often think of rare as not being very important but actually it’s very important to understand the mechanisms that underline the rare diseases, because actually it can give you a lot of information about some much more common diseases.
Once you get a diagnosis I think the most important thing to do is support that family.  One way in which you can do that is to introduce them to other families with the same condition and you’ll find that they can really support each other.  Patient organisations play an important role too.  I always teach my junior staff that the patients and families become experts in their condition and as a doctor you should not assume you know best.  It is essential to listen to the families and if they say something’s wrong, there is something wrong until proven otherwise.

When we, as medical professionals, are presented with a rare disease the first thing to do is to try and find out as much as possible.  We are very fortunate in this day and age that we can actually get access to lots of medical journals and information forums.   It is important to talk to other professionals who may have another patient with the same condition and often, though the rare condition itself cannot be cured, it’s actually how you deal with all the manifestations and consequences of it and how you support that family.  that is important.  You can develop a partnership with patients and then you both can drive it forward, which is much more powerful than trying to do things by yourself.

For families who have been given a rare disease diagnosis the first thing I would say is not to panic and not to Google it blindly.  It is really important to try and ask your healthcare professional to suggest a good source of information, because they will often know.  Another thing to do is find a patient organisation that supports that condition, whether in the UK or further afield.  Asking your healthcare professional If they’ve got another family with the same condition, which can often be extremely powerful and helpful and whatever you do, don’t despair, because it’s just the beginning of a new journey.

Janet is one of the Roald Dahl Rare Disease nurses at Birmingham Children's Hospital.

Janet is one of the Roald Dahl Rare Disease nurses at Birmingham Children's Hospital.

Getting a diagnosis will help to focus the treatment whereas before having a diagnosis it was all a bit cloudy, a bit unclear.  If you are in a hospital like Birmingham Children’s you can speak to our Roald Dahl rare disease nurses.  They can really help you understand more about the diagnosis and offer an invaluable support. 

One of the hardest things for families when they are given a rare disease diagnosis is the feeling of isolation.  Finding not many people know about the condition and the despair that they face when they meet people who really don’t understand is difficult.  I think when you’re a patient and you’ve got more knowledge than your healthcare professionals, that’s a situation where people despair.

I think when you’re a patient and you’ve got more knowledge than your healthcare professionals, that’s a situation where people despair.  At Birmingham Children’s Hospital we are about to open a Rare Disease Centre and our ethos is to make sure that we look after the family as a whole and not just the child.  There is so much more to treating a rare disease."

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 - Surgeon

We are perhaps all too aware of the impact that having a rare disease can have on the individual but how many of us have considered the complexity involved in treating and operating on someone with a rare or undiagnosed condition.  As part of the Rare Beauty project we met Anthony Lander a paediatric surgeon at Birmingham Children’s hospital and asked him how rare diseases affect him as a surgeon and if it influences the choices he makes in theatre.

“We find that rare diseases can cause a number of challenges.  The first might be that the individual with a rare disease is often the expert in their condition, whereas, the medical professional that they deal with may not have that in depth knowledge of that specific condition.  This means there can be a disconnect between expectations of how the medical team are anticipating the natural history and behaviour of the patient which can be different from what the child or the family know is going to be the behaviour of the problem.  Another important thing is that if you have a common condition you will have family and friends who have some experience or understanding of it, maybe it was diabetes or asthma, it is very common that people will have family or friends who know something about it and can understand what it might mean for you.  In contrast when you have got a rare disease, your family and friends and the people you come across, have no idea what it is.  No idea whether it is serious or dangerous, whether it has a big impact or a small impact or the nature of that impact.

The difficulty for us as surgeons is we don’t know how the system is going to behave when the patient has a rare condition.  I do a lot of surgery on the intestines and normally I can expect the bowel to behave in a certain way, because of the disease that is involved, or in the recovery after an operation.   In some rare circumstances the system behaves quite differently to what we expect and that makes my job difficult because I have to try to follow what is happening to the patient and try to second guess what is going to happen.  I may well not be able to predict the way the system is going to behave and it is important that everyone involved is aware of this uncertainty.  I have to take the parents and that child along that journey with me, so they understand where I have got confident expectations of performance and where I don’t know how things are going to behave in relation to either surgery or medications that are given.”

Whilst exploring the complexity that rare diseases present in surgery I asked Dr Lander how he coped with the expectation that as a surgeon he should know what is going to happen during surgery, especially as the parents have to put so much faith in his treatment plan.

“Mostly, with conditions that fall into this category, the parents have been on a journey and they are very aware that there are no simple solutions.  By the time they often come to us or by the time things have come to light, it is evident that things aren’t behaving as normal.  The parents, as it is mostly children that we are dealing with, have usually developed great skills in handling the nursing and medical staff and we work very much as a team.  What they face must be an incredible challenge that we in the profession can’t really appreciate.  We do not know what it is like to be the other side, to be a parent or patient, with one of these unusual or difficult challenging conditions.”

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 - Surgical Team

Not everyone has a diagnosis for their condition and this can be incredibly difficult for the person who is directly affected as well as their families. 

Olivia’s mum, Selina, shares her families experience of living with an undiagnosed rare disease.
“Olivia is 17 and does not have a diagnosis.  She has epilepsy, scoliosis (curvature of the spine) and has had surgery to put steel rods in it.  She is also in bowel failure and so she does not have anything to eat or drink at all.  Everything she has is through a line in her chest and a catheter that goes directly to her heart, to the main vessel.  You have to be very sterile when doing any IV drugs, fluids or the TPN (total nutrition) through her line. 

Olivia has been poorly from the age of 3 weeks old.  She wasn’t swallowing her milk properly and was going blue.  We brought her straight to Birmingham Children’s Hospital (BCH) and that is when they realised she couldn’t have anything orally.  She was always fed through a tube in her nose or in her tummy.  This was until four years ago and then she was on and off TPN but she has now been on full TPN for 3 years.  This means she has nothing to drink orally or through her gastronomy.

For her epilepsy she was on the ketogenic diet for 7 years to stop the seizures but when her bowel went into failure you couldn’t keep her on the diet because you couldn’t do it through TPN.  Her seizures have come back quite frequently so now she is on IV medication to stop the seizures but she still has breakthrough ones. 

A typical day for us begins at 5am.  I have to scrub up to do her IV medication at that time, then at 8am, we empty her stoma.  Because she is on a strict fluid balance we have to ensure everything she loses is replaced, so we calculate what replacement she needs in 24 hours.  This makes sure she does not get dehydrated.  I give her IV fluids at home.  At 10 am I flush off her TPN, so to do this I have to scrub up again to make sure I am sterile.  You make sure everything is clean, spotless, and then you give her more IV drugs.  I also put her on IV fluids through her other line and then at 12 o clock I would give her more medication so you scrub up again and again at 6, then again at 9.  The last IV is at 1 o clock in the morning.  Through the day you are draining all the drains, so she has two bags that come from her gastronomy and her other tube which are on drainage, so we have to replace all her fluid out of them as well as the stoma fluid loss.  You have to keep up on that all the time.  You take her temperature anywhere between 6 to 9 times a day because she is in danger of getting sepsis.  We repeat this routine day in and day out. 

My husband and my son help and they do a lot of Olivia’s care with me.  We also have a brilliant team of doctors and nurses here who help if we need anything at any time.  We can call on any of them and so we are lucky.  At first it was hard but you just accept that this is the way of life now.    It all becomes part of your daily routine.  You just do it and because she is so happy and bubbly and always smiling and cheeky you just get on with it. 

It is really important to raise awareness because people can stare, people can be nasty.  It is especially difficult when Olivia notices the stares people give.  I think if it was more in the public eye and people can see that just because you have a rare disease they are like everyone else.  It is important for Olivia. 

Once people know Olivia they see her cheeky attitude and see past her condition.  She has an amazing personality and just gets on with life because it is all she has ever known.”

 

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 surgeon'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 - Sabah

Sabah is a laid back happy teenager who never complains despite everything she has been through.  I have had the pleasure of meeting her on a number of occasions and each time her strength, courage and positivity has truly inspired me.  To date Sabah has experienced more than most people will go through in their life times and yet she is the first to offer support and help to others. 

When Sabah was one year old she was diagnosed with cancer in her kidneys which resulted in their removal and a need for regular dialysis.  She was then diagnosed with lung cancer and required chemotherapy followed by radiotherapy as well as the removal of half a lung.  Three years later Sabah received a new kidney which changed her life, however, these failed several years later and she is now on dialysis four times a week.  This has a huge impact on her day to day life and that of her family. 

"I was put on dialysis full time when my transplant failed.  It was more upsetting that scary because I had lost someone close who had dialysis.  Every time I went in there I just remembered seeing her playing.  She was the most amazing little girl that you would meet.  Losing her was a massive thing because I had never lost anyone close to me before.  When I went in there I got very upset and it took me a while to get over that.  I have had to be strong and go and do dialysis.  It has started to get easier because I knew a lot of the nurses from before and I knew most of the kids and we just formed a bond so everything became easier and less scary.  Having a supportive team around you is so important.

It really helps a lot to have people who know how I feel.  You don’t feel left out.  You know that someone can actually understand you instead of a person just saying ‘yes I get it’.  Quite often people will say that they understand but unless they have been through it how can they. 

I was the first person from my group to leave and have dialysis at home without going to the big hospital.  At home I can speak to my mum and family but there is not the same feeling.  Every Thursday at dialysis we would have a quiz or competition that the teenagers would do and also sitting next to your friend who was also having dialysis and talking are the things I miss most.  I do keep in touch with one of my friends from dialysis and so we use social media to chat and that has made it easier. 

My condition affects the family a lot.  We can’t go on holiday like my friends do because of my condition also sometimes when I am admitted to hospital the rest of the family feel a bit lost without me being there.  They don’t know what to do with themselves because we are one unit.  Sometimes they want to help but don’t know how.  We have to plan everything in a certain way and have to take my dialysis into consideration whereas if we were a normal family we could do things when we wanted to. 

The worst thing about my condition is the food!  I have to keep an eye on what I am allowed to eat because I have to keep potassium low so that means no fries, no potato or tomato based food.  I am also really restricted with how much fluid I can take each day too.

My social life is really affected by this condition too.  If my friends meet up I sometimes can’t go or if there is a school trip happening I have to let them know about my condition and they have to be very careful and you just can’t have the same sort of fun, especially with teachers hovering over you all the time. 

There is hardly any awareness about rare diseases which is why projects like Rare Beauty are so important.”

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 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 - Reverend Paul Nash

The aim of Rare Beauty is to highlight the far-reaching impact of rare diseases and there can be few who experience this as much as the chaplaincy team in a hospital do.  They are there when families feel at their most desperate and when people need a listening ear or simply a shoulder to cry on.  No matter what your religious preference, in a time of need, it must be comforting to know that this team is on hand.

The head of the chaplaincy team at Birmingham Children’s Hospital is Rev. Paul Nash.  In addition to a wide array of specially made shirts he also has a ready smile and the ability to put everyone at ease.  As part of the Rare Beauty project he explained his role and how he deals with the day to day stresses of such a demanding role.

“I have been at Birmingham Children’s Hospital 15 years this year and I have been Senior Chaplain for about 12 of those years.  My role is to head up the multi-faith and ecumenical team of the chaplains at Birmingham Children’s Hospital.  We have lots of different faiths, six different world religions and therefore lots of traditions within each.  It is a very lively and vibrant team seeking to serve the patients, families and our staff.

“Our role with the families and the patients is to look after and support their religious, spiritual and pastoral needs and care.  With the religious care we offer them support in the faith that they belong to.  With their spiritual needs, it would be helping them in things like finding meaning and purpose and how they can remain connected in their community.  With pastoral care, we would see it as offering a listening ear.  We provide that practical support of being there and being alongside the families in their times of joy and struggles.

“When we have a particularly difficult day, which happens quite frequently, the first thing we do is support one another as a team.  We are always there for each other at the beginning and end of each day to chat things though.  One of the things we try to do is to leave as much as we can here but we are human, like everybody else, and we do take things home.  First thing I do when I get home is normally watch about half an hour of a comedy program.  I am on Big Bang Theory at the moment and so that is a part of my de-stressing system. 

"I plan my year 12 months in advance so if you got my diary out you would see all my holidays, all my weekends away, all my days off, my annual retreats, writing time and study time all in it.  I plan it with my wife a year in advance just to make sure I get all that time off to recharge and rewind.  It allows me to refresh so I am here for the families, patients and the staff.

"As a chaplain one of the main differences is that you realise very quickly that this is not your space.  With the families and us, we are all visitors.  When you work in a church or mosque it might be yours but you come and work in a hospital it is not your place.  It is really very different.  The other distinctive is you are relating to families, and the normal day, is them struggling with some of the very worst things that life can bring and throw at people.  These things make it very different to being a local minister or local religious leader.  It kind of raises the temperature of our normal life. 

RB BCH-101.jpg

“We try to find people who are a good fit for the role and that is very important.  You have to have people who are ready to respond quickly to an emergency and who can as quickly offer a very profound prayer or just sit and talk about the football results from last weekend and move in between those two things very quickly which most of us do and enjoy doing."

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 would like to read about one of the families who have been supported by the haplaincy team you can click 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 - Sister Florence

I am Sister Florence Njoku. From the Order of Daughters of Divine Love. (DDL) and my role at Birmingham Children’s Hospital is as a Roman Catholic Pastoral Assistant.

My duties include :-
- Religious, Spiritual and Pastoral Care.
- Prayer and listening ear.
- Support for all as the need arises.

I am part of a wider Roman Catholic team that work together at the Birmingham children’s hospital from St Chad’s Roman Catholic Cathedral Birmingham under the directives of very Rev. Canon Gerry Breen, the Cathedral dean of the Birmingham Catholic Archdiocese.

As a team, we respond to the religious, pastoral and spiritual needs of Catholic patients, relatives and staff at BCH and at all level.  My main role is to visit the sick, listen to them on the wards, on the corridors, listen to their stories.  Some of them have lots of problems, life’s problems, that they have brought with them to the hospital.  Sometimes that does not help their recovery so when they invite me they talk to me about all sorts of things and I listen to them, I am a good listener, and help them spiritually, morally and religiously.

We regularly visit each of the in-patients on the Wards, corridors, as well as in the chapel.
For Catholics, the most important source for their spiritual and pastoral care is their access to the Sacraments of the Church.

The Blessed Sacrament is installed and reverend in the chapel so, as extra ordinary Minister of Holy Eucharist I conduct the Eucharistic service in the absence of the priest, in accordance with the Catholic authorisation. I also take communion to the patients on the Wards when the need arises.

I offer support to patients, relatives and staff of other Christian denominations and other religions with their religious representatives.

I spend time with patients on the wards as they talk to me about a range of subjects especially when babies are in acute conditions and the parents need to make a tough but final decisions.  We work as a team as we offer hope to the helpless in our hospital.

If you would like to learn about ways in which Sister Florence has supported one family you can click here.

You can learn more about the Chaplaincy team and read about Rev Paul Nash 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 - Chapel

Victoria and Sister Florence at the Chapel in Birmingham Children's Hospital.

Victoria and Sister Florence at the Chapel in Birmingham Children's Hospital.

When people think of hospitals they immediately think of doctors and nurses, and of course they are key, but what about the spiritual needs of patients and their families.  One family who have benefited from the support of the Chaplaincy team is Victoria and her son Rory who live in Birmingham.

Victoria shared her experiences with us as part of the Rare Beauty Project.

"Rory is 18 months old and was diagnosed with congenital nephrotic syndrome at 1 month old.  He spent the first year of his life in Birmingham Children's Hospital (BCH) and was discharged on his first birthday.  He is a strong little boy and he is doing very well now, growing and developing, which is what we want.  I can’t quite believe he is doing the things that he is doing considering how long he spent in hospital and being very ill. 

"He is a bubbly and energetic little boy who just wants to get involved.  He is getting frustrated because he wants to be doing the things that his big brother is doing.  He has an older brother who is 4 in May and he just wants to be playing with him and running around.  He is getting there and he is cruising around the furniture now so it won’t be long before they are playing together in the garden.

"Spending so long in hospital was very difficult.  Liam had this little brother who he very rarely saw because he was in hospital the whole time.  Now he is catching up and he is getting to know him.  He only came home in July last year so it has only been 6 or 7 months.  Liam is getting to know Rory and understand that he has this condition and that mummy and daddy have to give his brother medication and he has an NG tube and has to be fed through the tube at night.  It is all very new for him but he is getting used to it. 

"Our family was basically split for the 12 months while Rory was in hospital.  During the day I would be going to the hospital and spending a lot of time with Rory, trying to be a mum to him and be a nurse at the same time.  I also had to try and live a relatively normal life for my other little boy who would be at nursery.  I would leave the hospital and would have to pick Liam up, feed him and do the normal duties that a mother does.  It was tough but we bonded together as a family and we seem to have got through it, with the help of all the people at BCH.  The staff have been amazing on Ward 1 with everything they have done for Rory.  Obviously, I could not stay here all the time so I had to rely on them to nurse him, love him, support him and do all the things that I would do."

"Rory is very sensitive and he has had some really severe episodes that resulted in him being in intensive care on a few occasions.  For me this illness either does one thing or another – you either get drawn closer to your faith or it drives you away from it.  For me I have found it has drawn me closer.  I have spent a lot of time in the chapel at BCH and I have found it quite comforting.  On the wards and intensive care there were lots of machines that Rory was hooked up to.  The ward is a noisy place with lots of pinging going on.  It is quite noisy so to be able to escape to the chapel and have a few moments to yourself and just re-charge, and pray obviously, did me the world of good. 

"Sister Florence and Father Gerry, from the Chaplaincy team based at the hospital, have spent a lot of time with us.  When we were in hospital we would see either one of them at least once a day.  They would come to the ward, bless Rory and for me it meant a lot. 

"Rory was baptised in the hospital.  When we knew he was going to be here for a while we wanted to get him baptised as quickly as possible, because we did not know what was going to happen to him.  From that day onwards the team have been so supportive, both Father Gerry and Sister Florence.  For me it has been a delight to see them.  You have some really long days at the hospital and they have brightened up my day especially when you are in a cubical in isolation and you don’t actually get to see anyone apart from a nurse coming in and out.  It has been lovely to see them and for them to be at the bedside besides Rory."

Rory aged 18 months is still receiving treatment at Birmingham Children's Hospital.

Rory aged 18 months is still receiving treatment at Birmingham Children's Hospital.

In Rare Beauty we use photographs to capture images of everyday scenes that the person with a rare disease finds themselves in, for example, meeting with the consultant, having treatment or a researcher working on treatment.  The juxtaposition will be that whilst these settings by their very nature are usually sterile, uninviting locations, we will create beauty as the patient with a rare disease and others involved (consultant etc) will be wearing designer clothing.  The purpose of this is to highlight those affected by rare disease.

Victoria explains "In terms of describing Rory's conditions to people it can be difficult.  I think people look at him and don't want to ask the question, however, I believe by doing the Rare Beauty project it will encourage people to ask more questions.  It shows that we are proud and actively showing off our children and their condition with everyone.  I am hoping the project will show that we are all one and can offer support to one another.  I think people will realise that we are comfortable showing and sharing our children's illnesses so they should feel comfortable asking questions.

"I think the images and putting clips on social media will definitely encourage this as this is how people communicate and share their stories now a days.

"It will help people understand the impact it has on children in the community as it will display how much they can or can't do and how limited they are but hopefully it will also encourage others to help and provide assistance where need be.

"The reason why it is so important for Rory and I to take part in the project is to raise awareness and to show that just because he has an illness he is still the same as any other child and is no different."

Rory is home with the family now, however, in the future he will need a kidney transplant.  His parents are currently undergoing tests to determine which of them will be a donor as they are both a match for their son.

The Chaplaincy team is a multi faith team and is led by Ref Paul Nash.  Pictured is Rev Nash, Victoria and Sister Florence.

The Chaplaincy team is a multi faith team and is led by Ref Paul Nash.  Pictured is Rev Nash, Victoria and Sister Florence.

You can here to read about Reverend Paul Nash and the chaplaincy team.

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)