The account by Tom's parents
We learned Tom's diagnosis in July 2005, he had just turned one. Everything began in December 2004, he was sixth months old. We thought that Tom had something wrong with his backbone so we went to see a paediatrician who preferred to do a complete check-up. In a few months Tom had had x-rays, MRI's and blood tests.
|
Six months later, on a Friday afternoon, the diagnosis was given. Tom had SANFILIPPO disease, (a genetic illness). He explained to us that we his parents carried the gene and that one child in four could be a carrier. We felt like the world had come crashing down on us, that from that moment our wonderful life would no longer be the same for the whole family. At that time I was expecting a baby. The doctor explained to us that I had to undergo an amniocentesis to see if it was also affected. |
 |
|
|
After a few weeks of doubt, anxiety and sadness, my mobile phone started ringing, I was in the car. I parked on the roadside, I had understood by the geneticist's voice that misfortune had hit us a second time. At that time I was 7 months pregnant. He gave us time to think about what we considered doing. |
||
 |
And then the weeks went by and we pulled ourselves together because our children needed us, Tom and our daughter Alizée aged 7 today, but luckily not suffering from the disease. Life had to continue because we had to fight for our children. |
|
Today the family has grown; Pierre-Antoine is now 2. He's in perfect health and what's more we can confirm that he has energy to spare. In life there are ups and downs but you must always hold out hope by fighting everyday and never saying that this disease is incurable, because medicine is making great strides everyday...
