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Nathan's Story 

Nathan blog CUL3.jpg

Born: 2014 / Age: 9

Country: Belgium 

Journey to diagnosis

Nathan was born prematurely at 36 weeks with severe intrauterine growth restriction, weighing only 1,640 kilograms. We were first alerted at about 4 and a half months into the pregnancy.


Everything was immediately more difficult for him: it took him 2 weeks to learn to drink, so he was fed through a nasogastric tube at birth. He didn't crawl until he was 11 months old and didn't walk until he was 18 months old because he didn't have enough muscle mass (he hadn't yet reached 7 kilograms at 1 year). His weight and height remained abnormally below the curves for a long time. He didn't reach these curves until he was 5 years old, at which time his BMI was still pathological. We had to put him on high protein, high calorie supplements. At one point he was vomiting a lot and we couldn't understand why. The doctor did a stomach biopsy and diagnosed dissacharidosis: he lacked the enzymes to digest sugar, lactose and maltose. For 2 years we removed as much as possible from his diet, then the enzymes returned. Fortunately, it was temporary. The doctor thinks it was either the nasogastric tube at birth or the repeated infections he had.

GET TO KNOW NATHAN
  • Nathan loves playing with his little brother.

  • He's a big fan of PLAYMOBIL and has recently started building with LEGO.

  • He loves playing with little houses and playing in his garden shed.

  • Last year he managed to ride his bike without the little wheels and he loves it.

  • We've been trying to teach him to swim for a few years now. At the moment he doesn't know how, but he's making progress and since he's no longer afraid he loves to play in the pool with his armbands on.

  • His character is sometimes very assertive, with a lot of resistance, but above all he's a very gentle and kind little boy.

  • He loves babies and is very attentive and protective of them.

  • He has lots of friends, especially a great friend with whom he's had a strong bond for several years.

  • He's adorable and people he knows often get very attached to him.

In fact, Nathan had been extremely sick during his early childhood, about 4 weeks out of 5. His pediatrician suspected a form of cystic fibrosis, but that wasn't it. At the age of 2 we asked to see a geneticist. He first suspected Russell Silver Syndrome, but that wasn't it either. We then benefited from the possibility to test 5000 genetic diseases at once: everything came back normal.


Nathan continued to grow up with difficulties: speech delay, stuttering, learning delay, emotional delay. Everything took longer for him. Between the ages of 2 and 4 he was very oppositional and had a lot of anxiety. So we contacted a child psychiatrist who did an assessment and concluded that Nathan had "autistic-type defences". Very early on we started all kinds of therapies to stimulate him: physiotherapy, psychomotricity, speech therapy, neuropsychology. At the age of 5, we put him in a special school, after he'd gone to kindergarten in a great little school where he received a lot of support.

 

We continued like this for years, constantly stimulating him, right up to the present day. And recently, at the age of 9, the geneticists told us that genetic research had progressed since the last tests he had undergone and that they had just discovered that he had a de novo mutation in the CUL3 gene and that this explained all his symptoms.

 

This has not been easy to find out; it's a shock, but at last we know what he suffers from and we discovered that other children have the same difficulties as he does.

Current challenges

Today, the battle continues and we are doing everything we can to help him learn to count, read and write. Just before the diagnosis was announced, the school told us that Nathan would need to be taught to use a tablet at school, as he has severe dysgraphia and is progressing very slowly. It's important for him to find another way to communicate in writing. Our current challenge is to provide the best possible support to teach him to use a tablet while continuing to work on his writing skills.

Reflections & hopes for the future

 

We hope that one day he'll be able to be independent, to have a job, however modest, to have his own apartment or house without depending on anyone, to meet someone to share a life with... Simply to be happy. We don't know what the future holds for him, but we're doing everything we can to make sure he has a good life.  

Last updated 2024

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