In this short video, Percy’s mother describes her experience of his rare disease.

“She is really in tune with people’s feelings and can sense straight away if someone is upset or angry and her response straight away is to kiss, hug and ask them if they are ok”.

Mari has Wagr syndrome which is a rare genetic condition that can affect both boys and girls. Babies born with WAGR syndrome often have eye problems, and are at high risk for developing certain types of cancer, and possible learning delays.

From the very beginning, life has been difficult for Mari. At 12 days old she was operated on for bowel malrotation. When she was 1 she was diagnosed with Wilms tumour which meant she had a year of chemotherapy and surgery to remove 7 tumours. When Mari was 2 she had cataract surgery on both eyes and further surgery to remove scar tissue. She is registered blind but she can see fairly well close up, though not in any great detail. She also has no depth perception. 

Despite Mari’s vision problems she is very determined and doesn't give up easily. She is very much like any other child who enjoys painting, crafts, music and singing. In her short life she has been through so much but she is tough and doesn't complain about anything.

“It is very rewarding having such a lovely little girl who has overcome so many hurdles and is coming on in leaps and bounds. We are so proud of her and she constantly amazes us with her capabilities despite her difficulties.”

“We do have constant worry about her and the possibilities of the tumours returning, the long term effects of chemo, deteriorating vision and her coping with her limited vision and being able to do what other children do. It is very much an emotional rollercoaster having a child with such a rare condition. We have had to learn as we've gone on and to research as much as possible in order to help Mari and get the assistance she needs. Knowledge is power and we've pretty much become experts on the condition and advising the consultants on what they should be aware of and checking on! It's a constant battle ensuring that she gets all the support she needs. We feel very blessed to have Mari and wouldn't change her for the world, her condition has made her who she is.”

When Grace came into the studio to take part in the Rare Project she was an absolute delight and loved showing me her dolls and toys. Her smile and bubbly personality hides the fact that at such a young age she has already been through so many challenges. Grace’s mother, Charlotte has shared with us some of the issues that Grace has due to her rare condition.

“Grace has multiple issues. Starting at her head she has a brain injury called PVL (Periventricular Leukomalacia). Her spine also finishes above her sacrum around T12 (known as Sacral Agenesis - SA), and her spleen is on the wrong side. She has a heart murmur and she had a cyst on her lung which was removed; her intestines were rotated but that was also fixed when she was only seven days old. As a result of her SA, the nerves which control her bowels and bladder didn't ever develop and so she is incontinent. She’s currently in pull ups.  She has low muscle tone in her legs and talipes - possibly due to the SA or the PVL - no one knows”. 

“As of today her PVL has caused some developmental delay. She can't do her buttons and seems a lot younger than she is. She is also ‘wobbly’ again, though we’re not sure why. One doctor has suggested that while her vision is 20:20 she may have difficulty processing what she sees.

Her SA has definitely caused her continence, heart murmur and spleen issues and whilst they don't seem to cause any problems at the moment when she grows up I think she will need some sort of medical ID in case she is unable to tell anyone in an emergency”.

“So how does this affect us? Well to be honest it kind of doesn't! I know that probably doesn't make sense, but it is just life with Grace for us. We get up in the night to change her pull up so her bedding doesn't smell and so she doesn't get sore. She has a shower every morning to make sure she stays fresh. She has her pull ups changed throughout the day at school. When she comes home she is like any other normal child. She plays, watches tv or reads, then goes to bed. Grace's sister started Tae Kwon Do and Grace wanted to go too so she recently had her first lesson which she really enjoyed.

I am still changing nappies even though she is 7, even doing night changes. Luckily she sleeps through it. Sometimes she gets wet-through at school, or catches her clothes on a dirty pull up so she needs to change her clothes. She has started to worry about people noticing. She doesn't keep up with her friends and again, she has started to notice”.

“Grace is a wonderful child whom we love very much. We encourage her to try everything and allow her to make her own decisions - within reason!

One sports day there was a relay race which involved scooters. Each child went a few times but Grace fell off on her turn. All the teams had stopped at the end of the race, she got back on the scooter and 'finished' the race. Tears were streaming down my face. This was my baby who struggled so hard but didn't give up. Even though she was last, she kept going. The whole school was cheering her on! Afterwards, I spoke to the headmistress and found out that when the race had finished Grace insisted on having another go! To me, this summarises Grace to a tee - she wanted to do something and nothing will stop her trying!

If people were just more aware of these conditions I think it would make them more accepting and comfortable around people with disabilities. One day this could be their child or grandchild and wouldn’t they want them to have a happy and healthy life?”

“Katja is a kind and loving girl who absolutely adores music and can always be heard singing around the house.  She is an avid reader and spends a lot of time writing short stories herself.  She has an infectious warmth and happiness about her and loves being around her family and friends”.

Katja was born with Moebius Syndrome, a rare congenital disease which causes paralysis in some of the cranial nerves; especially those that control the muscles of the face, eyes and ears. This means that Katja is unable to smile, frown or blink and has some difficulties with her hearing. She is also unable to move her eyes from left to right, which affects her co-ordination and balance, and she suffers from muscle weakness causing scoliosis of the spine. This does not, however, stop her always trying her best at things - she recently gained her green belt in Karate and her Grade 2 Piano. 

“Although she faces, and has faced, many challenges and prejudices in her life, Katja does not let this hold her back.  Those that take the time to look past her exterior will know that she is quietly strong and determined, and handles things with admirable dignity and without complaint (most of the time!)”.

Her family are extremely proud of her and the things that she has already achieved for herself.  

Elisabeth was born as a twin at a gestation of 23 weeks and 4 days. She weighed 1lb 4.5 ounces. Her twin sister Mara died from complications 27 days later.

“After 3 months it was discovered that she had developed hydrocephalus (water on the brain) probably caused by a small brain haemorrhage. She was fitted with a vp shunt at 4 months old, and had a revision surgery at 5 months. It has not been an easy journey for us. There have been, and still are, a lot of uncertainties. Will she survive? Will she be able to walk, to talk, to function in this world? Her situation is so unique, that even we don't know what the next day will bring. Hydrocephalus is a condition of which the effects are different for everyone, so we try, fail, try again, be patient, analyse, do research, try again, and keep trying to explain to people that even though you can't see it and you won't notice it most of the time, her brain does not work the same as most other children.

“Due to her prematurity we unsure how her development would be affected but she has met all of her milestones, just a bit later than most other children. She could not walk until nearly 2 years old, but she is now a very active 6 year old who loves running, climbing and doing crafts. She has recently started ballet lessons, something she has been wanting to do for a long time.”.

Elizabeth is learning how to focus and her concentration span is slowly increasing. Concentration and following instructions can be very difficult for children with hydrocephalus. She is a very happy 6 year old with an infectious laughter and a lust for life that is an inspiration to all of us.

“Seeing Elisabeth growing up into this wonder of a child after so much uncertainty has made us fully appreciate every step she has taken, every word she has spoken and every smile we have seen on her face. She shows us every day that life is worth living and that great things are worth fighting for. We would not change her for the world”.

“It was a huge struggle, for Matthew in particular, from the moment he was born. He had many infections and initially needed a ventilator to help him breathe. Despite being the smaller of the two twins, Elin thrived and has not had any of the medical issues experienced by Matthew.”

Matthew and his family came to the studio to talk to us about their experience of rare disease.

“The lowest point came when Matthew was one month old. The consultant sat us down and said they could not do anything and it would be up to Matthew if he was strong enough to survive.  It was an extremely anxious time but his fighting spirit got him through.”

“Whilst in hospital Matthew was diagnosed as being deaf but it was not until he was 12 months old that we were told he had Crouzon Syndrome. Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. At 2 ½, Matthew had a cochlear implant on his right ear only as it is not possible to do both sides with Crouzon Syndrome. As long as he wears his implant he is now able to hear. With intensive speech therapy Matthew is making huge progress with his speech”.

It is expected that he will need reconstructive and orthodontic surgery which will also improve his breathing and appearance. This surgery has huge ramifications in terms of the physical changes and Matthew and his family will be offered psychological support to cope with this.

“Whilst out walking in Moel Famau some children called Matthew ‘freaky’. The most upsetting part of this was the reaction of the parents. Instead of taking the time to explain to their children that not all children are the same they just hurried them away and occasionally looked back at us. This was extremely upsetting and had they taken the time to explain or even talk to me about Matthew’s condition it could have had such a different outcome. It is for this reason we are extremely supportive of the Rare Project by Same but Different as with greater awareness comes acceptance.”

Whilst he has experienced many battles in his short life Matthew has not let his condition hold him back in any way.  He is such a positive boy and a huge inspiration.

When someone acts or looks different, people can be unsure how to ask questions. ‘Why is your child acting like that?’. ‘What condition do they have?’. Some may even turn away so as not to confront their feelings. From experience, this can leave the parent and person with a genuine feeling of isolation. My hope for this project is to show people that it is ok to ask questions and infinitely better than looking away.

I recently had the pleasure of photographing Natalia. She is a beautiful girl whose innocence and natural beauty can be seen in all her photos. Natalia is a very happy girl who adores music. In fact, during our photoshoot she really enjoyed dancing - so much so that we all had a little bop!

Natalia has partial trisomy 13, known as Patau’s Syndrome. It is a rare condition and unfortunately 90% of babies born with partial trisomy 13 die before they reach their first birthday. Patau's Syndrome are genetic conditions caused by the presence of an extra chromosome in the body’s cells. Average survival times for babies born alive with full trisomy 13 are two weeks or less.  

Despite the considerable impact that Patau Syndrome has on Natalia she is a happy child who loves to spend time with her sister.

Heidi and her family came to the studio to talk to us about their experience of rare disease.

“Heidi enjoys going to the cinema, eating out, swimming & horse riding which she attends through the RDA. She absolutely adores animals and going on day trips with the family.

Heidi has a disorder known as Ehlers Danlos syndrome type 3; a collagen disorder that makes her joints partial to sublux (dislocate) and to fully dislocate. She also has low muscle tone which causes her to be very unsteady on her feet. The disorder leaves her prone to tiredness & severe, chronic pain around the joints as well as gastrointestinal problems. 

Heidi receives hydrotherapy and physio in school and is, from time to time, dependent on her wheelchair as her joints ache.  She is under the care of Clinical Genetics in Wrexham and also the Orthopaediatric team in Alder Hey Liverpool.

'“She has had countless operations from the age of 8 months old with the most recent being 6 hours of reconstructive surgery & with more planned in the next few years. Heidi also has developmental dysplasia of the hip meaning she has shallow hip sockets & could be facing more surgery on her right hip in the future. It is a degenerative disorder with no cure and because it is so rare there is no knowing how the condition will progress”.

In addition to Ehlers Danlos Syndrome Heidi also has an autistic spectrum disorder.

Outwardly you would never know that Lachlan has a rare condition. At present, he is one of only 5 children in the world with the neurological condition Periodic Hypothermia and the only child in the UK. We spoke to Lachlan and his family about their experience of this extremely rare condition.

“Lachlan has three distinct temperature drops. The first occurs at random, regardless of outside weather conditions. His core body temperature drops under 35, and has been as low as 28. The second occurs when he is unwell or beginning to get unwell; his temperature will fluctuate continually for a few days between about 31 and 34. The last one happens about twice a year - he gets extremely tired and sleeps about 16 hours in a 24 hour period. His core temperature stays around 34 and struggles to rise for about 4 weeks. 

The temperature drops have a considerable impact upon Lachlan. During a drop we have to try everything to increase his core temperature and it can take some time before it has an affect. After a drop he can be tired and lethargic and it can also make him feel dizzy, emotional and clingy”.

  He currently takes 25mg of Topiramate twice a day as one of its side affects increases temperature. This medication also impacts in other ways on Lachlan and can affect his concentration, increases tiredness, causes restlessness and reduces his ability to complete routine tasks.

As Lachlan is the only child in the UK with this condition his parents have never met or spoken to anyone else who has experienced this. They believe there are 4 other children somewhere in the world but don't know where. 

It would be wonderful if through this project we could help the family connect with others so they could learn from each other's experiences.

“There’s a lot of negativity around the condition with the focus often being around what children with Down’s Syndrome (DS) can’t do.  Isobel and Abigail are full of life and happiness”.  

Their characters are very different and it is a joy watching them together.  At 3 years old, they have been slightly slower in achieving their milestones and their speech is limited, however, this has in no way held them back.  They are really good at signing and spend hours dancing along to Sing-along videos.

“A trip out with the girls takes ages, not because of any difficulties in getting about but because they are constantly being stopped and chatted to by strangers who are enthralled by their happy nature”.

Their parents were determined to look at the positive aspects of their condition and so established the charity: Twincess. It is a charity offering support if you’re expecting, or have a child with Downs Syndrome and want to hear a parent’s perspective. They believe strongly that Down’s Syndrome is not an illness. It is nothing to be ashamed of, pitied or looked down upon – despite an extra chromosome, people with Down’s Syndrome are no different to anyone else. People with DS, and those around them, are very proud of who they are.

“He loves soft play and swimming. He would like to go to the beach every day but is equally as happy with his ipad or some bubbles.”

Iwan had his first seizure at 8 months. It lasted for fifty minutes and by the time it had finished, he was in A&E. This became a regular event for Iwan, having up to 8 prolonged seizures a day and needing 'rescue medicines', as he couldn’t stop his seizures without medical help.

“His seizures are better controlled now as he takes 3 anti-epileptic drugs, twice a day. Children with Dravet (Iwan included) also have hypermobilty, ataxia and are generally unsteady, requiring help to get around. Iwan was diagnosed with Autism as well which is common in Dravet. He is impulsive, unpredictable and has no awareness of danger”. 

Despite his complex condition, Iwan is deeply loved by his family and brings happiness to those he meets. 

 I had the pleasure of meeting Niamh and her family. It is for children like Niamh that this project is so important. Her condition is so rare that there are only just over 100 people in the whole of the UK with the condition.  

She has Phelan-McDermid Syndrome (PMS) which is caused by a deletion, or loss, of the terminal segment of chromosome 22, also known as chromosome 22q13.3 deletion. Individuals with PMS have developmental delay. They often do not develop functional language and can have autism spectrum disorders. These are the bare facts, yet behind these details is a person. Sometimes it is all too easy to simply label a child. 

When I met Niamh, I could see the pleasure she got from simple things like gazing through the window, watching her tablet and dancing to her favourite music. She may not be able to chat with people or fully engage in the same way as other children her age, but her life is full of joy and fun. Her mum told us that she likes nothing more than cuddling with her brothers and playing outside and on the trampoline. 

It was wonderful to spend some time with Amy and her mum. We had bumped into them at various events over the last couple of years including the Rickshaw challenge last year, as both our organisations were represented, but this was the first time for a proper chat. Whilst Amy’s condition means communication is a challenge her personality means she is great at getting her point across and her sense of humour was very evident throughout our photo shoot. Amy’s mum, Jayne, explained how a diagnosis had come about through determination, perseverance and quite a considerable journey.

“Amy has a combination of rare diseases, she has both Cockayne Syndrome and XRCC4. What it means for her is the DNA can’t repair itself and so she has a progressive degenerative condition.

We had an idea that there was possibly an issue from early on. She was premature and didn’t grow or put weight on like other children, and whilst we were introduced to a geneticist early on, they still weren’t sure it was a genetic issue. Despite being like a little pixie she could do the same as everyone else, until she reached about 11 ½, and then she started to drag her left leg, then she started to fall over, then developed a tremor and it just gradually got worse.

“When she was 5 I found a picture of a child with Cockayne syndrome that looked so much like Amy that when I showed my dad the photo he thought it was her. I spoke to a number of different geneticist throughout the UK but they all said it was not what she had. She lacked one of the main criteria, which is photosensitivity, however we have since discovered that in 25% of children they do not have that issue. I just kept pushing and pushing and desperately trying to get a diagnosis, which led to us going to America where they have different tests available. They found the mutation on the gene through a blood test and then fast forward to when she was 22, they found two XRCC4 mutations. This means that, as far as we know, Amy is the only person in the world with this combination.

In some ways having both these mutations has meant she has lived far longer than was originally thought. If she just had XRCC4 she would have developed leukaemia and it may have also slowed down her degeneration through the ERCC6.

It may seem extreme to people that we would go to such lengths to get a diagnosis, however, the need for me was that if there was anything, I could have done to help Amy, and to stop her from deteriorating I would have gone anywhere”.

“It took me years to find that Amy could have Cockayne Syndrome but as a parent I had that time whereas one GP or geneticist simply has not got the time to spend on one child. I don’t have a medical background at all, in fact we used to run pub restaurants, but you just do what you need to in order to find a way to help your child.

Before the symptoms started Amy was full of energy, crazy, an adrenaline junky. People said she had no fear. She did have fear she just lived life on the edge, probably knew she needed to. It’s almost like she lived her life on fast forward because she knew what was coming

Her initial symptoms started with a tremor. She’d be trying feed herself and she couldn’t pick things up, she stopped being able to fasten her shoe laces and her zip, things like that. We were able to find a medication that improved her tremor, so her life improved for a while. As her condition has deteriorated, she has really started to lose that spark. A lot of the time she really just doesn’t want to be here. She lives her life around seeing her friends”.

“At the time when Amy was diagnosed, there wasn’t anybody who specialised in Cockayne Syndrome in the UK. We started Amy and Friends to provide support for others with the condition. Seeing images of people doing things like climbing mountains and wearing Amy and Friend’s T Shirts is just amazing.”

Find out more about Amy and Friends below.

Ryley has Cystinosis which means that his organs store the amino acid crystals - that we all have - rather than break it down as usually happens. Because his body does not break it down, it damages his organs starting with the kidneys but then it can affect the brain, the eyes and muscles. He has to have medication every 6 hours to help break down the cystine, which doesn’t necessarily get rid of it, but helps to prolong his life. We spoke to Ryley’s family about their experience of his rare disease:

“He was quite late when he was diagnosed as he was 3 ½. They usually start presenting at around 18 months with constant vomiting, failure to thrive and things like that whereas Ryley was the complete opposite. There was no vomiting and he was actually too big for his age. Apart from his size we were not at all concerned. We initially noticed there was something wrong when he started drinking too much. The doctor checked his urine and found sugar and protein. Initially they thought it might be diabetes, but his sugar levels were all fine. It took about three and a half months to get diagnosed. When they told me that he had Cystinosis, I had no idea what it was and because of the name I originally thought it was something to do with cysts but then when they explained the condition and said he’s going to need a kidney transplant, that’s when I realised how serious it actually was. Ryley now has blood tests at hospital every 4 weeks”.

“The geneticist has confirmed that both Chris and I are carriers which we had no idea about. There is a 1 in 200,000 chance of a couple who are both carriers getting together. It means that if we were to have another child, there’s a 1 in 4 chance that that child would have Cystinosis as well.

When Ryley was diagnosed, we were given a leaflet and they mentioned that there was a Facebook group, which has been really helpful. Most of my information has come from other parents and the experience that they’ve had.

Without the medication that he’s on, they say that he won’t survive past the age of 10, so obviously that’s given him a longer life, but as he gets older it is progressive. He suffers with aches and pains all over his body and they constantly check his main organs to ensure they are not affected. It is a case of taking each day at a time rather than thinking about the future. Transplant is the next step, so we’ll deal with that, get that done, and then see what comes up after that. That’s the only way we can deal with it really.

“When we were given his diagnosis we weren’t actually expecting it, Chris was at work and so it was lucky my mum was with me. It hit me like a ton of bricks and I just burst into tears as soon as he mentioned transplant; since then though I cope because my main focus is Ryley. I just kind of deal with it, because I have to. Don’t get me wrong, I do have a cry every now and then but I don’t really have a choice other than to just get on with it.”

“It is hard to constantly explain the condition to everyone. Because it’s so rare, it’s not talked about every day. If we’d have heard about it, I probably would have gone to the doctor and said I think he’s got this and it would have sped up the process and we could have started medication earlier. I think being aware is a major turning point for this condition”.

“Trying to manage everyday life as well as his condition is exhausting. He has to have his medication every 6 hours, including through the night so I’m like a walking zombie half the time. We have to constantly keep up to date with all the treatments and my relatives are always amazed by how much we know.

Ryley copes incredibly well, he’s absolutely amazing. He does get fed up sometimes, have a little outburst and be like “it’s not fair, why do I have to have my medicine?”, but then he’s fine. It’s a good job he is laid back, otherwise we’d have a battle on our hands.”

Charlie recently visited us in the studio with his mother, Fiona, to tell us about his rare condition. He is a happy little boy who loves Peppa Pig and cuddling his blanket, and on the day of our photo session he was celebrating his second birthday. Whilst he was more than happy to take part and enjoyed being photographed, he was also recovering from his latest admission to hospital.

Charlie was diagnosed with MECP2 Duplication Syndrome when he was 15 months old. This is a duplication of the MECP2 protein/gene and it’s located on the XY chromosome. What it means for Charlie is that people affected by this condition usually have global developmental delay, are non-verbal and can be prone to seizures later in life due to the build-up of protein. Many with the condition suffer from recurrent respiratory infections which has already been apparent in the last year.

“It is hard to say exactly how the condition will affect Charlie because there can be huge variances between the way it affects each individual. We believe that Charlie has quite a small duplication but that does not necessarily mean his symptoms will be less. He is already experiencing some gross developmental delay as he is very much behind his peers; he only started crawling two months ago. We believe he has autistic traits, which was the reason we initially took him to the doctors. Something just didn’t feel right in the way he is very happy in his own little bubble and just very content. Everybody used to say what a good little boy he was. For me that was alarm bells because he just wasn’t interested in doing all the stuff that ‘normal’ children do.

Charlie was under the paediatrician because of a thyroid issue. I mentioned our concerns and his consultant said that as he has several indicators such as, excess skin on his forehead and a few other facial markers that can indicate an issue, they carried out more thorough tests. He had some muscle enzyme tests, hearing tests and eye tests to rule everything out, and then the last resort, we didn’t even think anything of it, a genetic blood test which was taken in December last year. We got the results in early January.

We were handed a rare disease leaflet and told to go home and love our son and that was it. Obviously, there were a few things that were organised for us in terms of tests like an ECG, to rule out any heart issues, and the investigations on his bowel because this can be an issue for those with this condition but otherwise we were just left to get on with it.

We are in a position at the moment where we have to wait and see if he develops seizures. Because it’s a duplication of a protein it can build up in the brain, and seizures can start from when they’re 3 to 5 years. It’s not 100% that Charlie will definitely get them, so the uncertainty certainly adds to our stress.

One of our biggest worries is with regard to his education. I’ve put it to the back of my mind at the moment. We just don’t know how he’s going to be when he starts school. There are so many uncertainties about the level of support he will need. It’s massive, that’s probably the thing that chokes me up the most at the minute, just thinking about what the future holds for him.

Awareness is really important so that people understand what you’re going through, what your child’s going through. They’re all given these silly names that no one can remember or pronounce but ultimately, I just want people to know how these conditions affect our children and their families.

All I want is for people to see Charlie as the little boy he is and hopefully treat him the same as every other child. We are doing this to raise awareness. Nobody wants to be doing this sort of thing with their children, you know, we could be out somewhere now for his birthday, at a big soft play centre running around, but it’s important that people like you are out there, fighting our corner just to get people to think a little bit more about rare diseases.”

In itself, MECP2 isn’t life threatening but the recurrent respiratory infections can have severe implications, with many boys dying of pneumonia, sepsis and other respiratory related infections.

Because the duplication is on the X chromosome, the impact on boys can be extremely severe, whereas if girls have the faulty gene, they can be carriers but not have the devastating affects that boys like Charlie suffer. Many girls are not aware that they are carriers until they have a boy with the condition.

Having someone to support you emotionally and knowing that they understand the affect of a rare disease is really important. It is not something you realise until it happens.

I really cut myself off from going out on playdates because it just brings home how behind Charlie is and the things he won’t be doing. Having someone there who knows exactly what you’re going through, and you can talk to, is invaluable. Sometimes just being able to have a good cry together really helps, it’s a big release.

Charlie’s had 4 hospital emissions this year and for 3 of them we’ve been in the same hospital, in the same ward and yet each time the team will go through the notes and you have to just repeat everything. It really feels like what we are saying is just falling on deaf ears and so now we have started being much stronger about the care he is receiving.

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.

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. It’s 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 it’s not a case of one disability fits all, every one of us, disabled or not, are individuals and should be respected. 

"We’ve always encouraged Faith and tried our best to not treat her any differently than a ‘normal’ child. She attends mainstream school (with1:1 support). At a recent parents evening, her English teacher told us she has “never met such a caring, thoughtful soul” and another mentioned she “brings out the best in people”. 

“She has helped local vision charities at fun days and raised money with bag packs and took part in sponsored swims at school for national charities. In October 2015 she was awarded a rare Gold Blue Peter Badge for her citizenship.

Faith was born with a small deletion on the short arm of chromosome 11 known as WAGR syndrome. This genetic problem caused her to have the condition aniridia amongst other complications, glaucoma, cataracts and nystagmus (wobbly eyes) all forming to give a sight ratio of around 3/60 and recognized medically as severely visually impaired / blind.

The chromosome deletion also caused her to develop a tumor on her kidneys at 6 months old where she underwent chemotherapy and in the end had part of her kidney removed. The memory of her early years has always been tainted by this, all her baby and toddler photos of her show her with little or no hair and looking very poorly. I will never ever forget her pulling her own hair out during her chemo and looking at it and crying. She spent the next 7 years in remission with ultrasounds every 3 months, we lived from ultrasound to ultrasound counting each one down and wishing away the 7 years.

“Just weeks ago she had major 9 hour surgery to attempt to correct her progressive scoliosis with spinal rods and pins and is now immediately 2 inches taller and on the road to recovery and now able to walk pain free.”

Before both operations Faith was not concerned for her own well being but was more concerned that Mum and Dad must not worry and that she would be fine!

Like most teenagers Faith loves music, audiobooks, games, television and cinema. She is very passionate (borderline obsessive) about who and what she likes. She loves vloggers on Youtube such as Zoella and Joe Sugg, Marvel films, Minecraft, X Factor, Jedward and Bars and Melody in particular. She loves attending music concerts and definitely loves to dance!

“Faith also has developmental co-ordination disorder (DCD), also known as dyspraxia, and is a condition affecting physical co-ordination that causes a child to perform less well than expected for his or her age in daily activities and appear to move clumsily.  Faith’s fine motor skills are also affected making writing almost impossible, tying shoe laces and doing up buttons also impossible.

Faith was born with a significant heart murmur and last year (2014) underwent keyhole surgery to close the hole in her heart.”

Jacob and his family came to the studio to talk about their experience of his rare disease.

“Jacob has something called X-linked Hypohidrotic Ectodermal Dysplasia. It affects his ectodermal layer which means he can’t sweat and so it is hard for him to regulate his body temperature. He overheats in the summer when it’s hot and in the winter, if it’s very cold, he can’t warm himself up as we would. It has also affected his teeth. He has four top teeth and three bottom teeth, most of which are misshapen and pointed. He wears a little denture on his top set to help him with eating. Having no pigment behind his retina means he wears sunglasses when he’s out and about because he is so sensitive to light. He also has eczema and so I can be putting creams on him up to five times a day.

“When Jacob was 18 months old, he still had no teeth, so I took him to the dentist; she was concerned enough to refer us to Alder Hey hospital. Whilst waiting for the appointment, I did my own research and found children with similar symptoms and facial features. I went to see the locum GP but he sort of laughed at me really and thought I was being silly. I went back a week later and saw my own GP and she agreed that there were signs and referred him for genetic testing. Both the team at Alder Hey and genetic tests confirmed the diagnosis. Unusually, his condition is a random first mutation because I am not a carrier”.

“Sometimes he gets upset because if it’s too cold he can’t go outside to play at school and the same is also true if it is very warm. His friends are very accepting as to them he is just Jacob. I worry about the future and how it will be when he starts at high school. That’s when he’s going to realise he is different. It is so important that people are aware that not everybody is the same and that you can be different but still lead a normal life.”

“On a day to day basis he must have his creams put on and needs to wear his sunglasses. Eating can be hard work and so he is a bit slower. His food has to be chopped up smaller and quite soft really. We try and encourage him to be as active as possible but have to watch to make sure he isn’t getting too hot. He has a cooling jacket that he wears when playing and often on a hot day we wet his clothing. In the winter you just layer him up, t-shirts, jumpers, coats, gloves, hats, two or three pairs of gloves sometimes. We always need to be alert to his changing temperature.”

We met Amerah and her mother during our Rare Beauty project. Amerah’s mother, Viv, talked to us about their experience of her rare disease.

“Amerah is 3 years old and has Beckwith Wiedemann Syndrome which is an overgrowth disorder. It is characterized by a wide spectrum of symptoms that vary from person to person. However, in many individuals, it can include above-average birth weight and increased growth after birth (macrosomia), an unusually large tongue (macroglossia), enlargement of certain internal organs (organomegaly), and abdominal wall defects (omphalocele or umbilical hernia).

She is large for her age and her health issues include being born with a large protruding tongue and she has quite a large umbilical hernia too. The main concern is that they are prone to tumours in their stomach and so she has to be scanned every three months. The risk of tumours goes away when she is about 8 years old but the health risks continue. She has recently had surgery on her tongue so hopefully that should help with that. They will need to operate on her hernia and her overgrowth is fine as I simply buy bigger clothes for her. Since she was born until now it has been difficult because she has had reoccurring chest infections, she has asthma and other issues. 

She was diagnosed after she was born. When I was pregnant they saw a cyst in her stomach and so there were plans put in place to refer her to Birmingham Children’s Hospital (BCH) after the birth. The problem she had when she was born was that she struggled to control her blood sugars and again that is part of the syndrome”.

“Because of the way she looked, i.e. she had the large tongue and blood sugar issues they did some genetics testing. It was only when we were referred to BCH due to problems feeding at four months old that she was diagnosed.

I had never heard of it before and did not know anyone with a rare disease. We did the usual things and Googled her syndrome and did our own research. We found out that with IVF there is a higher chance of having this condition. The condition does not affect her development but it is the health issues that will cause the problems”.

“It is really important to raise awareness of rare diseases.  I have been online and found a lot of sites in America but it was when we came for an outpatients appointment here that a lady came up to me and asked if Amerah has BWS.  It turned out her son has it and she recognised the large tongue and so on.  She was the first person I met who knew about the condition from first-hand experience. 

Better awareness in schools and nurseries is important too.  I have not put Amerah in nursery because she has speech and language support and I just think mainstream nurseries need more knowledge of rare diseases and the support that children may or may not need. 

Awareness is important for Amerah herself too. She is big for her age and does things that people assume she shouldn’t be doing because they think she is older than she is. She has only just gone three and so if there was more awareness there would be greater understanding.

Not all rare diseases are apparent from birth. Some symptoms can even occur overnight and turn the lives of affected families upside-down. This was very much the experience of Tyresse and his family.

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

“In 2008 - when Tyresse 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: 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 - 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”.

“When Tyresse 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.

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

“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 Tyresse 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 Tyresse is limited with 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 Tyresse, I have a 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 Tyresse is registered blind we have also 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 Tyresse’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 Tyresse 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”. 

“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. You automatically think they are going to die straight away but really you are looking at the worst case scenario 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 Tyresse’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 Tyresse 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 Tyresse 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 Tyresse 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”. 

We met Taye and his mother during our Rare Beauty project. She talked to us about her experience of Taye’s rare disease.

“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”.

“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”.

“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.”