Blog

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

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 ecumenical team of the chaplains at Birmingham Children’s Hospital.  We have lots of different faiths, six world different 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. 

“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."
 

 

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.

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.

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 click here to learn more about Sister Florence and her role in Birmingham Children's Hospital.

If you wish to discuss this project or reproduce any images or story please contact ceri@samebutdifferentcic.org.uk.

  

We can... Peter

Peter is 24 years old and lives in the Wirral.


We initially had to delay photographing Peter as on the date we had pencilled in he was in Australia, such is the demand on his time.  Peter is a successful athlete who competes in many tennis competitions for INAS as well as competing in the Special Olympics.  He combines this with his studies at Coleg Cambria and all his training for his relevant sports.


One of the first things that strikes you about Peter is his passion for sports and his studies which includes horse care.  His enthusiasm is contagious and it is hard not to smile the whole time you are speaking to him because he is such a positive and caring person.


“In Melbourne, Australia I was playing tennis which was a great experience.  The tennis was for INAS (the International Federation of Intellectual Disability Sport) which is for players who have a learning disability. 


“If I had to describe myself it would be enthusiastic, caring and hardworking.  I really like horses, they are my passion.  I love horses because they can sense if you are down or when you are happy.  In Sheffield there are Special Olympics for people with learning disabilities that people are taking part in different sports like equestrian, tennis, football, swimming and badminton. I am taking part in equestrian which has got three disciplines which are dressage, horse care and horse trails.


“I have been at Coleg Cambria for 7 years and I am doing Level 1 equine.  I love equine because it is to show the way that horses live and how to look after them like if they are injured or they have got problems with their feet and health. 


“I think that people with disabilities should have a chance of trying different things, even if it is ILS to mainstream.  At least they can try their best to get into a higher level.  It is important because people with disabilities are still human, like everyone else. 


“In the past people have questioned me about my disability asking why I went to a disability school and people used to tease me about the name of the school.  It was getting me down quite a bit.  I spoke to my mum and she said she would do something about it to stop me getting bullied.  I had been bullied quite a lot by people outside of school, by teenagers that didn’t even know me.  It was quite scary because I felt threatened.  My mum spoke to them and said she would call the police but they just laughed.  I was just so relieved that she had done something about it.  If someone is getting bullied they should tell someone and not leave it to themselves so they would get really, really upset about it.  People need to learn more about people with learning disabilities and find information about it.”
 

“I love socialising with friends and family that I haven’t seen in a long time. I don’t see my family very often because I am always busy but I like to see them more often.  In the future I would like to do voluntary work or sports commentating.”

Peter has moderate learning difficulties.

We can... Mark

Mark is 20 years old and lives in Mold.


One of the hardest part of this project has been hearing about the number of people with learning disabilities who have been bullied.  Time and again we have been told that people have shouted abuse and even destroyed property belonging to these young people.  It is so sad that these kind, caring and inspiring young people are bullied purely for being different.


“I have been really happy to take part in this project and have been looking forward to it.  I love to write songs and stories and sometimes I do You Tube.  I am making my own gaming channel, holiday channel and doing blogs.  I love to travel and I once went to Greece for my brother’s wedding.  I was his best man.  I love to write songs.  I love listening to Bon Jovi, AC DC, Thin Lizzy or that sort of stuff.  I like rock and pop and maybe some country too.  Everything makes me happy, especially writing songs.  Getting treats makes me happy too. 


“When people bully me it makes me sad.  I get bullied a lot and it has happened for a long time.  People swear at me and are mean.  It makes me really, really sad and emotional.  If I knew someone was being bullied I would make them tell a teacher or their parents.  People bully you to make fun of you and be silly.  They take paper off me and rip it, then throw it away or throw it around and being really horrible towards me.  I told my mum and she helped me.


“I love sharing my story so other people should do it to.  I have loved doing this project.”

“I think there are three things people should do.  They are 1. Be happy, 2. Smile more and 3. Be focussed on their work because the more you work the more education you get.” 

Mark has Downs Syndrome and moderate learning difficulties.

We can... Daniel

We met Daniel whilst he was working with his class in the grounds of Coleg Cambria Northop.  He and his fellow students were getting hands on experience in the horticulture section of the college and it was great to see the enthusiasm they all showed for practical tasks.


Whilst Daniel has a learning disability you can see how keen he is to work and be a valuable member of his community.  He spoke with such pride about the experiences he shares with his grandfather who takes him on trips to ride the steam trains.  Simple pleasures like the colours of the trucks he sees and riding on steam trains make Daniel so happy and it is wonderful to see such enthusiasm.  I think this project has taught us many things but one of the most important is to actually take time to enjoy the simpler things in life – life the colours of trucks, rolling fast down a hill or even just enjoying a bag of chips at the seaside!  There is so much we can actually learn from people with learning disabilities.


“I really like cooking because you get to take it home to eat it.  When I finish, I want to be a copper because my mum says I would be good at telling people off.  I really like telling people off when they are naughty. 


“Outside college I like going on the trains with my grandad.  We go to Seven Valley in the West Midlands and I am a member there.  I love trains.  I drove one once and we made breakfast on it.  I would love to do something with trains one day.   My favourite trip was to Scarborough and then we had chips and a Mc Donald’s. 
 

“The trucks also make me really happy because I love the names on them and the colours.  I also like bike riding especially going down hills because I like to go fast.  I don’t like going up hill.”

Daniel has moderate learning difficulties.

We can... Neisha

Neisha is 19 years old and lives in Mold.


Whilst Neisha’s disability of cerebral palsy is visible when she is in a wheelchair, it is the hidden issues that have caused her the most difficulties.  Her struggles in school and reluctance for them to test her dyslexia caused years of issues and it is only in the last year that she has had that diagnosis confirmed.


“I really like watching TV and playing games.  I like Pokemon games.  If I had to describe myself I would say I am happy, bubbly, kind and friendly.  What I like in other people is for them to be kind, happy and friendly. 


“To people who criticise me I would say that even though I have a disability it doesn’t mean that there is anything wrong with me.  I would still go to schools, even though they are special needs schools, I can still do the work and interact with people.  I am good at swimming and basketball.  I swim quite a lot.  There is a hospital that deals with my disability and I swim quite a lot there.  Even though I have cerebral palsy I can walk and I have had issues over people being mean about that but I don’t let it get me down.  They don’t understand when they see me walking why I need a wheel chair, but it gets hard for me to walk far, and so I need it.  I tell them to stop it and to think about their own needs to be honest.  To think about themselves really. 


“Before I went to Coleg Cambria I wasn’t very good at reading but I think I have got a lot better with that and I struggled with maths and numbers before I came here.  I found school very hard.  In my last year of school, they didn’t know I had dyslexia and that was very hard.  I have only just been tested this year.  For years we had asked for me to be tested and they would not do it so it was very hard.  Once I had got over that situation everything got easier really."
 

“It is important to raise awareness of disability because there is not enough of it."

Neisha has Cerebral Palsy, hydrocephalus and moderate learning difficulties.

We can... Scott

Scott is from Connah’s Quay and is 20 years old.


When we met Scott we were impressed by his quiet determination, his will to succeed and positive approach to tackling his difficulties.  As a student, in school, he recognised that he struggled and set out to work hard and achieve his dream of being a farmer. 


“I am at Coleg Cambria and this year I am doing animal care and conservation.  I really prefer college to school because you are so much more independent.  I really like the animal care because I have a lot of animals myself and so it helps me learn how to take care of them better.  My goal is to become a farmer and to look after as many different types of animals as I can.  I would also like to get some of the more exotic animals like spiders to try and boost their popularity.  I have two pet tarantulas and they are really not that bad to look after.  They are more scared in you than you are of them so if you respect them then they respect you.  It is the same with people as it is 50/50 trust either way. 


“Sometimes people make remarks that I can’t do things and this makes you feel like you can’t do it but then I look back and realise that I can do things.  I may learn a bit slower but I can still do what you can do. 


“People should stop putting us down because it is not fair.  We can do what you do.  You should not judge us for no reason because no one is normal in this world, nobody is perfect so what gives you the right to put us down.


“Animals can do with more respect too when you think about the amount of products we get from them then they get a bad reputation.  They have been in our world for a long time, longer than us.  Looking after animals and grooming them is therapeutic.


“My dream is to become a farmer.  This has been my dream since the age of 10 and so if I don’t achieve it I will be really sad.  I can’t do it alone.  I will need a bit of help to get started but everyone needs help in the start.


“It was quite tricky at school.  I had to leave the class to do catch up but when I went back to class I was performing a bit worse than when I was doing catch up.  I realised that maybe if I just tried a bit harder then I would do better and that is what I did.”

“Even someone who is missing a leg they still get around.  It is amazing what people can do if they actually try.  If you don’t try how can you expect to get anywhere in life.  It is about how much effort you put in.”

Scott has moderate learning difficulties.

We can... Kate

Kate is 36 years old and lives in Buckley.


The idea behind this project was to challenge preconceptions and to demonstrate ability rather than disability.  Meeting Kate was such a positive experience and to hear how much she would like to work was really inspiring.  Sometimes all it takes is for someone to see the person behind the condition.


“I like to be with my family, walking and listening to music, I like lots of different things really.  I am doing a rotation course in Coleg Cambria.  We do healthy living, retail, office and media, basic skills and cookery.


“My favourite course is office and media because in that lesson you do many different things and I like computers.  I love the fact you can listen to music while you type because it helps me clear my mind out. 


“If I had to describe myself I would say I was smart, friendly, caring, kind and very sociable.  In other people I look for someone to have a good personality.  I was bullied once in school but I told the teacher. 

“I passionate about having friends and love my college course.  Outside of college I love being with my family.  We have three dogs too.”

Kate has Downs Syndrome and moderate learning difficulties.

With thanks to these organisations for their support.

With thanks to these organisations for their support.

We can... Paige

Paige is 20 years old and lives in Bagillt, North Wales.


When you start a new project you often have an idea of the people you will meet and stories you may here but nothing prepared me for the incredibly inspiring and positive people that I met during the ‘We can…’ project.  Paige is one person who sees the world so clearly and she is wise beyond her years. 


People often feel sympathy for those with disabilities, however, the joyous thing about meeting Paige is that she truly believes it is not something to be pitied as she finds it to be a benefit. 


Paige explained “I mainly do life skills at Coleg Cambria.  It helps students like me who have troubles with subjects or who have a disability.  It helps us find our talents like with say cooking and ICT.  The staff are really helpful and help us when we need it.  They encourage us to do well and work hard.


“Having a disability makes you unique, it makes you different from other people.  In a way, it can help you as well as hinder you at times.  I have met some people who use their disability to help them and it is can be amazing to see how it goes.  My disability makes me think somewhat differently from others.  I think at a different pace.  I think faster and it helps me do what I like to do, for example. Speed reading.  Sometimes I skip words which sometimes confuses me.  I have a lot more energy at times.  It is hard to explain when you have it yourself.


“Being able to speedread can get a bit annoying at times thought like when you have to wait for other students to catch up.  That is probably the only downside with having that skill.”


When asked what advantages a disability can give you Paige said “It sets you apart.  It gives you a hidden edge that you don’t know you have until you discover it.  Some people for example understand maths better than others because their brains pick apart numbers more easily whereas others would have a harder time.


“People who are negative towards those with a disability need to learn to open their eyes a bit more.  People who do not understand disabilities need to meet someone to understand them.  They need to be more open minded because if they have not met someone with a disability then you don’t know what you are missing.  I have a little sister who has trouble hearing and seeing but she is great at lip reading, she understands and she listens to you.  She is the best little sister that you could have.  We have our arguments at times but I love her to pieces.  She is my little sister and I accept her for who she is.  She has slow learning but I help her the best I can.  She is great at languages and is trying to learn Chinese at the moment.  She practices a lot.

“Project like ‘We can…’ help us to explain about who we are and you want to take part just to prove you can.  The reason I am doing this is to help people understand more.  It is hard when you have a disability at times because you do not know how to cope with it and if a parent or new parents have a disabled child then they are not going to know what to do.  I am hoping to help others out there to understand what it is like to have a disability or a disabled child.  It was hard for mum when I was a baby because she did not know I had ADHD until I was tested.  It was hard for her to adjust to the idea for my mum but she managed and has raised us brilliantly.  She is the best mum I could have.  I love all my family.

“I think some kids who get picked on because of their disability they prove to themselves that they can do it later on in life.  Being disabled is an amazing world to be in and I am glad to be part of it.”

Paige is on the autistic spectrum, ADHD and also has vasovagal syncope which causes fainting.

With grateful thanks to these organisations for their support.

With grateful thanks to these organisations for their support.

We can... Olivia

If you just do what people expect you to do you just end up miserable and depressed in a job you don’t want but if you follow your passion you will want to wake up in the morning and go to work.  You won’t care how much you make or where you live.  It is about what you are doing and it just keeps your heart beating and you are happy about it.  It’s great!

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Oliver

Oliver is a very sociable little boy who loves hugs and he is always trying to hug everybody he sees when we are out, especially other children. 

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Poppy

Poppy and her sister are lively happy little girls.  At this stage outwardly Poppy does not appear to be affected by her condition, however, as she gets older it will have more impact. 

Poppy has Marfan syndrome.  Her sister has not been tested for the condition as yet but she will undergo test in the future.

Poppy’s father was diagnosed at 14 after his gran passed away.  Several members of his immediatefamily were also diagnosed.  Marfan syndrome is an inherited disorder of the body's connective tissues – a group of tissues that maintain the structure of the body and support internal organs and other tissues.

Typical characteristics of the syndrome include being tall, abnormally long and slender limbs, fingers, and toes, heart defects and lens dislocation.  As the symptoms of Marfan syndrome don't always develop during childhood, it may not be identified until the teenage years.

Rare diseases are not always obvious from birth and as such it is important to be aware that 1 in 17 people will be affected by rare disease at some point in their life. 

The aim of the Rare Project is to highlight just how many different conditions there are out there and they affect people differently. 

You can meet more people who are taking part in the rare project by clicking here.

 

 

Barbara

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

Thirty five years ago when my two children were small and I was a single parent I was diagnosed with progressive Multiple Sclerosis.  To say it changed my life is possibly no understatement.

Like most people I love sunny days and spending time with  my family and friends.  I also love my weekly singing sessions with the Tenovus choir.  The odd tipple of red wine is also welcome and some may say that my singing even improves afterwards! 

If I had to list things I do not like I would have to include the rain, miserable people, being tired and not being able to pursue what I want to do.

As no two days are the same I have to plan my life on a weekly/daily basis. I try not to plan too many events in a given time, which is frustrating, but the severe fatigue from doing too much is unbelievable.

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

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

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

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

You can meet more people who are taking part in the rare project by clicking here.

Zakiyyah

Zakiyyah is a bright, inquisitive 5 year old who loves riding her bike and is also currently learning to ice skate.  She also loves playing football.  Outwardly Zakiyyah looks like every other 5 year old and this is an issue that her family deals with constantly. 

Zakiyyah has Tyrosinaemia Type 1, a rare disease that means she has problems breaking down an amino acid called tyrosine from the food she eats.  In order for the body to use protein from the food we eat, it is broken down into smaller parts called amino acids. Special enzymes then make changes to the amino acids so the body can use them. 

Tyrosinemia 1 occurs when an enzyme, called fumarylacetoacetase (FAH), is either missing or not working properly. When FAH is not working, it cannot break down tyrosine. Tyrosine and other harmful substances then build up in the blood. One of these substances is called succinylacetone. When it builds up in the blood, it causes serious liver and kidney damage. It may also cause episodes of weakness or pain. 

When Zakiyyah came to the studio to take part in the rare Project her parents explained a little more about her condition and the impact the diagnosis had on their lives.

After Zakiyyah was born we instinctively felt something was not quite right and went back and forth to the doctors.  Her feeding was a real issue and she was such an unsettled baby.  It was not until she was three months old we found out she had this rare condition which affects approximately 1 in 100,000 people.  Tyrosinaemia is one of the conditions that is tested for as part of the heel prick test that is carried out on newborn babies.

The way in which we found out about her condition was really hard for us.  It is never easy getting a diagnosis but we were told on a Friday afternoon and we were given very little information.  The consultant and dieticians who could give us the answers we needed were not available until the Monday and so we had a weekend of not knowing how this condition would affect our baby.  It was terrifying.   

When we finally did see the consultant he was wonderful and explained everything clearly to us.  Even though we have to carefully manage Zakiyyah's diet it is a condition that can be managed.  It was difficult getting used to the drugs and dietary changes to begin with.  We have to monitor her intake all the time but it is surprising how much it becomes second nature.  She is only allowed 5g of protein which is not very much at all.  For example there is 12.5 g in an egg!  We routinely check her tyrosine levels through blood tests and she has to take supplements and medication throughout the day.

The fact she looks like everyone else means that her condition is very much invisible.  We were pleased to take part in the Rare Project so that people were aware that not all rare conditions were obvious.  Prior to having Zakiyyah I was not aware of metabolic conditions and the impact they can have on the body. 

If you would like more information on Tyrosinaemia or other inherited metabolic diseases you can visit www.climb.org.

To learn about other people taking part in the Rare Project please click here.

Emily

Not all rare diseases are immediately obvious and when I first met Emily I could see that she was a bright, beautiful girl who was petite but in no way looked as though she had a disability.  In some ways this is what makes some rare diseases so complex.  You might think there is something slightly different about someone but not know what or why and this leads to a constant need to explain why you might be different.  Dealing with curious looks or questions can be exhausting and for a teenager who just wants to fit in it can be infuriating.  It also means that people are not aware of the difficulties that someone experiences on a day to day basis or what their families have gone through.

Emily and her family have allowed us to share their experiences of having Russell Silver syndrome.

We knew there was an issue with Emily in utero and so I was closely monitored throughout the later stages of pregnancy.  She was delivered at 34 weeks weighing 3 lbs 3 oz and whilst we knew there were issues we did not have a formal diagnosis until 6 months.  At this stage we were told she had Russell Silver syndrome.

Children with Russell Silver syndrome often have severe feeding problems and are of low birth weight. They have distinctive features which include triangular shaped faces with a small jaw and pointed chin.  They are prone to sweating a lot as babies and may have low blood sugar and there is usually a blue tinge to the whites of their eyes.  There are a wide range of features that collectively lead to a diagnosis.

The hardest part of getting a diagnosis was not necessarily being told what condition it was that our beautiful daughter has it was the fact that it is so rare and therefore not much is known about it or how to treat it.  The two geneticists we met for diagnosis explained her condition, gave us a leaflet and said that basically they knew very little about it.  Throughout Emily's life we have met with consultants every 4 months and during that time I gather together any questions we have and they are very often left unanswered as they just don't know.

We have had to make medical decisions based on very little evidence or knowledge and whilst our consultants are hugely supportive we are very much left to coordinate the care ourselves.  We regularly have to make decisions that can have a huge impact and the choices can be extremely difficult.  Emily was on growth hormone treatment for 4 years, with daily injections, helping improve her growth but also - more importantly her muscle strength and stamina.

Being a parent is hard but being a parent to a child with a rare condition can almost be unbearable in terms of the responsibility and decisions you are required to make.

Emily's condition affected us the most when she was younger.  The infant years were a constant cycle of milk feeds, reflux, constipation and blood sugar problems.  At age 5 she was still being bottle fed and had to be fed little and often throughout the day.  The knock on effect of this was the need to have all her baby teeth removed at 5 which was a huge psychological issue for us as parents.   She was at school by then and it was a very dark time for me in particular.  You worry about how your child will be accepted by their school friends and you want to protect them as much as possible. 

The fact Emily is petite with small hands and feet and low muscle tone means that she struggles with stamina and things like PE at school and people often comment on her size which can be frustrating for her.  As she has got older life has become a bit easier and it is important for people to realise that things do change.  There are some issues for Emily to be aware of in her adult life, however Russell Silver is not something we will allow to dominate our lives and it is just part of what makes Emily the person she is today.

We feel it is hugely important that families realise they are not on their own and there are organisations out there to support them.  For us the Child Growth Foundation was a huge help because you really do need to know there are others who have had the same experience.  The Rare Project by Same but Different is also an excellent way for people to raise awareness of rare diseases.

You can meet other people who have taken part in the Rare Project by clicking here.

 

 

Maddox

I recently met Maddox and his family when they came to the studio to take part in the Rare Project.  It often feels like a huge responsibility to photograph the people who take part as I really want the personality to shine through and allow you to see the real person behind the condition.  I am often moved by their experiences and this was particularly true for Maddox's story.

Maddox is a determined, energetic and typical little 2 year old boy.  He is cheeky, naughty and completely wonderful.  He is our eldest child and the journey we have been on so far has completely changed our outlook on life.

Maddox--2.jpg

He was diagnosed with hypophosphatasia (HPP) at 10 days old.  This condition is an inherited metabolic disease that is a serious, progressive and lifelong condition that can damage bones and organs.  This condition disrupts a process called mineralization, in which minerals such as calcium and phosphorus are deposited in developing bones and teeth. Mineralization is critical for the formation of bones that are strong and rigid.

During birth Maddox broke several ribs, both wrists and was an extremely poorly little baby.  Doctors were unsure as to why he was not improving after birth and following further tests were able to diagnose HPP.  In some ways we were fortunate as they diagnosed his condition early, despite it being an ultra rare condition, and even though they had no experience of the condition his consultants contacted other hospitals to see how best to treat him.  One of the biggest learning curves for us was the fact that doctors do not always have all the answers.

On the day he was diagnosed I met with two new doctors who I had never met before.  They said that they thought they knew what condition Maddox had but did not know for sure until they carried out further tests.  The doctors did not want to tell me the name in case I researched it online but they did eventually tell me.  My partner, Lewis, was at work and breaking the news to him is possibly one of my worst memories.  We had thought that Maddox’s condition was improving and then to be told his diagnosis was devastating.  When symptoms occur in children before 6 months of age over 70% of children die before they reach 5 years old.  At this stage the outcome looked very bleak.

Like most people we were really not aware of the complexity of rare diseases.  We all assume that a consultant will diagnose a condition and then know how to treat it but with rare diseases that is often not the case.  Our Doctor called other hospitals to see if they had treated anyone with this condition and he spoke to someone who had treated a child in Manchester.  He was aware of a drug trial that was being carried out in three centres: Manchester, Birmingham and Sheffield.  We chose Birmingham and we were transferred there so that treatment could begin.  That sounds simple but the reality is very different.  We lived down South and so it meant moving to hospital hundreds of miles away from family and friends for 3 ½ months.  I was on my own with Maddox most of the time because Lewis had to carry on working.  Thankfully we have a strong support network and friends and family were able to visit.  The staff at the hospital were really supportive.

When we were first told about the drug trial we were really not very hopeful because very little was known about it in our own hospital.  The support we received from Birmingham Children’s hospital was wonderful as they were able to tell us so much more about the condition, the impact the trial had on other children and ultimately we knew it was our only hope.  Without this drug he wouldn’t be here today.  He was such a poorly baby and they had even discussed the possibility of needing to intubate him to help him breath and they put him in a different cot in case he needed to be resuscitated. 

The treatment has been amazing though as within just a short amount of time we noticed a difference in his breathing and his strength.

We have to inject Maddox three times a week.  This in itself can be traumatic as he is too young to explain why we have to do this and it takes two of us to do it.  One to hold him and the other to inject.  It is a small price to pay for seeing him running around and playing like any other two year old.  Maddox also has a feeding tube and this can sometimes cause problems especially in social situations where meals are involved.  We really don't want him to miss out and we wish there was greater awareness of rare diseases and their impact.

In the early days it was all about how to get through the next day.  First there was the trauma of his birth, then diagnosis and then the start of the trial and the huge improvement in his condition.  We never really looked to the future or even considered the possibility of the trial coming to an end.  This is now a reality.

We were recently informed that the trial is coming to an end and the drug company are in talks with NICE (National Institute for Health and Care Excellence) to discuss if they will fund this treatment.  As a family we have been supported by Climb (www.climb.org) throughout this process as they are acting as an official consultee for patient experience to ensure we are represented.

We are extremely worried about what the end of this drug trial means for Maddox.  We have been told that if he comes off the drug now he will deteriorate and his bones will stop growing.  He will likely need to use a wheelchair and get more tired.  His consultant believes there is a strong possibility that he is not yet strong enough for his body to cope and there is even a chance he could die once treatment is halted.

It is possible that as Maddox grows and develops he may reach a point where he is strong enough to cope without the drug but we have to get him to that stage.  In these early days, for a child who has the condition as severely as Maddox, this drug treatment is our only hope. 

As parents all you want is the best for your children,  Rare diseases by their very nature are extremely complex and as such it takes a huge team to ensure the very best treatment path is open to you.  We are hopeful that a solution will be found in time to ensure our son continues to grow stronger and live the life we want for him.

We were delighted to take part in the Rare Project as we wanted to share our story with other parents so that they would understand how rare diseases can impact on lives.  It is important that people don't make assumptions when they see a child with a feeding tube, using a wheelchair or behaving differently.  No one really knows what that family is going through so they should not be too quick to judge.

Dr Larissa Kerecuk, Rare Disease Lead for Birmingham Children's Hospital highlighted the important role they play in treating those with rare diseases. “We see over 9000 children with 500 different rare diseases per year at Birmingham Children’s Hospital and we know that children, young people and families affected by rare diseases face so many challenges. So, we are very proud to developing the 1st Children’s Rare Disease Centre in the UK which will help to coordinate the care, improve diagnosis, reduce isolation by providing peer support and information as well as ensuring access to research and treatment.”

You can read about other people with rare conditions by clicking here.

Hannah

Hannah loves life and is generally an extremely happy little girl.  She has a zest for life and radiates positivity and energy (LOTS of energy…and sometimes chaos!). 

She is probably most happy when she’s getting messy – messy play, messy eating, helping her mummy decorate the patio doors with whatever’s on her hands at the time - just messiness in general. 

She has a wonderful appetite and her most favourite food is broccoli, hence the title of her mum’s blog (www.mykidloves broccoli.wordpress.com)

Hannah loves exploring her surroundings and has a curious nature too.  For instance, give her a piece of chalk to draw with and she won’t just ‘mark make’, she’ll roll the chalk, stand it up, spin it round, feel it between her hands, taste it, throw it and she’ll find a whole host of other things to do with it too. 

Hannah is diagnosed with Cornelia de Lange Syndrome.

She also has a number of other conditions which are more than likely associated with her syndrome:  A bilateral SVC (heart defect), Cleft Palate, small hands and feet, fixed flexion contractures of the elbows, Pierre Robin Sequence, moderate hearing loss, global developmental delay and learning difficulties.

Hannah is significantly smaller in stature than an average child.  Whilst she’s around the size of a petite 4 year old, her physical strength is immense…as is her willpower!  Hannah is non-verbal, has limited means of effective communication, sensory processing disorder, she displays some autistic type behaviours.  Hannah is a sensory seeker.

Hannah was initially fed by NG tube as she had no gag reflex.  Then, in 2010, she had an operation to repair her cleft.  The surgery apparently went well, however, shortly after being returned to her hospital bed, she had a post-operative bleed, choked on her own blood and her heart stopped beating. 

That memory, of seeing your child die right before your eyes, is one that will stay with us forever.  Hannah was precious even before she was born, but she’s even more precious now…and we now have first-hand experience of the fragility of life and how it can be taken away from us any second.

Hannah’s syndrome affects most aspects of her life; from her mobility to the way she perceives the world and as a result, this subsequently impacts on her parents’ life too because Hannah is totally dependent on an adult for all her needs and needs to be supervised at all times – especially as she likes to put anything and everything in her mouth and has no concept of her own or others safety.

Despite her being non-verbal, significantly developmentally delayed and, at times, preferring to be in her own world, we really feel blessed that Hannah is accepted just the way she is by her friends. 

Children, in general, but not all, are very accepting and accommodating.  Sadly, this isn’t always the case about adults.  When we’re out and about with Hannah, we come across all kinds of people – lovely ones who’ll speak to Hannah even if she can’t respond, who’ll ask in as nice a way as they can what she’s diagnosed with and how that impacts on her or the ones who smile, genuinely smile, as they’re simply walking past us.   The genuine smilers get me every time and often leave a lump in my throat! 

Sadly though, there are people out there who seem to lack any empathy or understanding whatsoever:  the ones who walk in front of Hannah’s wheelchair or swing their bags at her face level, the ones who leave me struggling to get through a door (the list is endless).  But, for me, the starers are the worst.  On good days, I’ll ignore it and forgive their ignorance, on not so good days I may feel the need to stare back. 

Cornelia de Lange syndrome is a rare, genetic syndrome which, statistics suggest, affects 1 in 40,000 to 1 in 100,000 live births (apparently, that’s around 100 times rarer than Down Syndrome).  The syndrome was only discovered officially in the early part of the 20th century. 

“I want to let other families, just starting out on their own journeys, who’re dealing with the devastating blow of a new, life changing diagnosis that there CAN be life after this diagnosis….and our children, Ceridwen’s photographs and the Rare Project are unquestionably proof of that.” 

“My wish, is that Hannah is seen as a little girl FIRST.  Her disabilities affect her every day and there’s no getting away from that fact, but they most certainly don’t define her – she’s not a medical diagnosis…she’s Hannah”

You can read about some of the other people taking part in the Rare Project by clicking here.

You can read more of Hannah’s journey so far on her mum’s blog:  https://mykidlovesbroccoli.wordpress.com/hannahs-journey/