Actualités et médias Témoignages Le témoignage des parents de Daniel

Le témoignage des parents de Daniel

So much has happened since then, but yet we can remember his character, his sunshiny face, his running everywhere, his constant chattering and all his activities, likes and dislikes as of it was yesterday. Daniel was born healthy and lively and grew tremendously.

 

Although it seems like a very long time ago now that our lovely bouncing boy Daniel was born, iit also sometimes seems like just a few months ago.

He loved food, trains, singing, colouring and drawing, and was very interested in books and letters. The only slight early problem we noticed was his speech was not clear and his vocabulary was increasing only slowly.

Speech therapy was recommended. Later he needed tubes in his ears and this seemed to help a lot and also reduced the ear infections he seemed to get a lot. But as Daniel started Kindergarten, more and more problems seemed to arise. He didn’t quite cooperate or follow instructions correctly. He couldn’t follow in group play, he got teased by others, he couldn’t express his feelings as clearly as others and so got frustrated and sometimes angry. He sometimes did unexpected things like throwing pencils without really any maliciousness – just didn’t seem to realise it was inappropriate! Gradually we visited more and specialists and therapists. He was diagnosed with ADHD and then gradually gained more and more labels like dyslexic.

Then around 8 we noticed he was starting to forget things, names of people, how to write words he already knew. He had more toilet accidents. He had had to change schools several times, which of course unsettled him a lot. Finally, when he was at a school for special needs when he was 9 one doctor suggested we get him thoroughly tested at the hospital. Some time passed before the appointment but then quite quickly a storage disease of some sort was clear because of his enlarged liver.

More tests were arranged and most important a skin biopsy under general anaesthetic. Some 8 months after this, we finally had the devastating news.

In our case, we were already prepared to some degree because the laboratory had tested for diseases that had treatement first and then after these were eliminated, for those without treatment. In the mean time we had been researching on the internet. The storage disease was a lysosomal one – Mucopolysaccharidosis type III A or Sanfilippo IIIA. No hope, just progression - more and more mental dementia, loss of speech and eventually all communication, incontinence, sleeplessness , then more and more physical disability, probable pain in the joints and other parts of the body, epilepsy, incontinence, inability to swallow and eat, digestive difficulties, loss of all physical movement and so on.


The disease is fatal normally before 20. All the hopes one has for one’s child gone in an instant. Grief, pain, sadness, moments of total disbelief. All because one enzyme is not working correctly. Gradually, slowly a different status quo develops and with the support of friends and family and in our case, trust in God, we started to search for others with the same situation and for any medical relief of symptoms and then unite for the search for a cure.

On the way we have found some treatments which seem to slow down the progress of this devastating disease to some degree but by far not completely.

 

Daniel was always very active and has had the opportunity to learn many things with a lot of assistance, like swimming, skating, skiing, horse riding and so on. For many things though he has lost the ability or the motivation now. He used to be able to do jigsay puzzles up to 200 pieces with great enjoyment. Now he slowly does ones with 20 to 40 pieces and sometimes the pieces get a bit chewed.

We try to keep him as active as possible. But at home and in his day cenre he needs constant attention and help with all daily activities. With a Sanfilippo child you need to make the environment a safe haven as they can injure themselves very easily. In the world of research for a cure, things are moving forward. But will it be fast enough to help Daniel who is now almost 19. He’s doing well. We are fighting for him.

But we so desire some of those wonderful skills he once had to return and most of all for him to express his wishes and feelings with words. Do please join us in the search for a cure.

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