ERIC
Eric in his 2023 photoshoot - All photographs by Ceridwen Hughes
Eric is a young man that lives with a rare condition. He has a terminal deletion on 4to34.3 as well as a double duplication of 16p13.2. His mum Alison explained that as far as they are aware he is the only recorded person with this specific deletion and genetic profile. Alongside this Eric has multiple diagnoses. His mum Alison says “He has autism, dyspraxia and dyslexia. He has auditory processing disorder. He has sensory disorders as well as social, emotional, and mental health issues, but despite all of that he's just absolutely fantastic. I mean, he is just a dream boy.”
Eric was diagnosed quite late, he was 10 when the family got the final diagnosis, even though the family had pushed for more tests from infancy. He was first seen by a paediatrician when he was 3. His mum had difficulties describing Eric’s issues in front of him at the appointments. “I'd written down things, and I'd say at the start that I can't really discuss these issues with Eric sitting in the same room. It's all the negatives you start talking about again.
The doctor said that she saw none of the issues I was describing. It was a battle and I kept pushing, eventually, we got Eric's first diagnosis which was his dyspraxia. I had to keep battling for more answers as I knew Eric’s health wasn’t down to just dyspraxia. I started asking about autism and about how to get Eric tested but I was told ‘no’. I even have one professional letter saying ‘Mother is terribly anxious and wants labels for her child.’ Nobody wants labels for their child, you just want to get to the bottom of what the issue is.”
Eventually, Eric went onto a waiting list for genetics and he finally received a diagnosis in January 2015. The family then had a private diagnosis for his dyslexia. His health has improved as he has grown. “He was hospitalized quite a lot as a baby and a toddler with his breathing, so we had a lot of respiratory issues. He also had quite a lot of bowel issues but health-wise today we're incredibly lucky, the only medication he takes is for issues with dermatology on his face and arms now.”
Eric has a terminal deletion on 4to34.3 as well as a double duplication of 16p13.2
For Eric, he suffers from high anxiety and routines are needed as he is very structured. Explaining to him the plan for the day and telling him that, for instance, a delay may happen or an unplanned outcome might occur helps him prepare for the day. “You never ever say to Eric that we'll do something in ‘two minutes’ or say ‘give me a minute’ as he will take it literally and count down the minute.”
“He is very determined. His path may have been a bit longer maybe than everybody else's, for example, he had to redo a year for his GCSEs to achieve his marks. His big dream was to do A-level history so he did classics as well as regular history. He just loves history. I mean, he shocked and surprised us all with his GCSE results so he is now doing his A-Level history, which just makes me so proud. It just shows that he knows that things might not be on the same time scale as his peers but he’ll get there and achieve what he wants. He said that he would love to go back to the school, the mainstream school, that told him he couldn’t do his stats because he was not intelligent enough, and he would love to show his results to them.”
Eric is studying A-Level history
Support for the family comes from friends, CRDN and the Unique Feet group. “He is part of Unique Feet, which is absolutely fabulous. There, people just accept everybody's very different and everything is accommodated as much as it can be. He loves that.”
The future for Eric is unknown and he will soon be 18. This leaves the family with more issues. “That means unless we get a power of attorney or deputyship (he doesn't really need deputyship) I wouldn't be able to speak on his behalf at meetings. He will have to fill in all the forms for PIP and ECHP himself. I don't understand why they suddenly think a child with multiple difficulties suddenly can do it all by himself. It's quite ridiculous.”
The fact that Eric’s case is so rare means there is no benchmark to set him against, there is no way of knowing how things will be. This can be difficult to also get across to professionals whether it be healthcare, schooling, or social services. “Especially when there's little or no information you don't know how to describe it. So being asked, for example, what it will lead to in the future is something that can’t be answered. You're trying to find out and telling people there's no information about the possibilities for Eric. I can't tell you what is going to happen, what the possibilities are or what the limitations are.” It’s a constant struggle for them. Alison has fought long and hard for Eric and his diagnosis plus getting things put in place that will help him in life. It has been a constant battle.
Eric and his mum Alison
Today's society is not the most inclusive or unjudgmental unfortunately and this is a constant worry for most parents today, however, as a parent of a child with additional needs, it can be more so. Eric has his dreams and ideas, and his family will always support him in what he chooses to do. “At the moment, he's saying that he’d quite like to go to university, but he doesn't know how he would cope living by himself. We do hope that in the future he will be able to live independently. It's difficult because in the future he does want to work but he just doesn't know what that may entail, yet!”
Eric is happy to go to college (he has a wonderful key-worker), and enjoys many hobbies. He adores history and loves to read and learn about it. When the family go on holiday, they choose places that Eric loves to learn about and he will research and plan what they could do together on their trip. He loves his music and has an eclectic taste in what he is listening to. Then there is skiing. Eric loves it and the family go to Milton Keynes every week so Eric can ski there. “We were incredibly shocked about Eric and skiing, but he took to it and is good at it. Because of the level of dyspraxia he has, you know, he can't run in kickball, he runs and he trips. It was a huge surprise how good he was at skiing.”
“I don't want Eric to have to change, I hate the fact that people say ‘well if you did this, he would fit more into society’. I think society should encompass my son, and people like my son, it shouldn't all be a one way system of Eric learning to fit in. You know, he has always accepted who he is and he's always just wanted to move forward. I suppose he doesn't know what the future is going to be. But he accepts it and I think not wanting to change yourself as a young person, one that's got difficulties too, is amazing. I think it shows quite a lot of strength of character. He thinks ‘okay, I know, things aren't easy for me, but where can I get to next?’ I hate the fact that some children like Eric have to go through the struggle, but he accepts his struggle and makes the best of it. I think it's just the fact of acceptance for him ‘I've got this and I've got to get on with it’. I am so proud of him.”
FIND OUT MORE
Cambridge Rare Disease Network
Cambridge Rare Disease Network is a platform for change. It is the infrastructure that unites patients, advocates, experts and leaders to address the challenges faced by people affected by rare diseases. By sharing knowledge and experience, and working together, the journey towards better diagnosis, treatment and support for patients and their families is smoother and more certain.
To find out more about Cambridge Rare Disease Network and how they can support you, click here.
Source: https://www.camraredisease.org
UNIQUE FEET
Unique Feet brings together kids and families who understand each other’s shared challenges and difficulties but who also know how important it is to celebrate their achievements.
Often that understanding enables the UF ‘gang’ to raise one another up to help achieve hopes and dreams that might be so much more difficult to achieve alone.
To find out more about Unique Feet and how they can support you, click here.
Read the Impact Report and hear from families about what this community means to them here.
You can read about some of the other people taking part in the Rare Project by clicking here.
Don't forget to visit and 'Like' our Facebook page too so we can keep you up to date with our new rare stories by clicking here.