Antoine’s Story
WHAT IT FELT LIKE WHEN WE LEARNED ANTOINE HAS A GENETIC DISORDER…
The day of the diagnosis was filled with excessive emotions. Our neurologist at the Children’s Hospital explained to us that Antoine had a genetic mutation that could definitively be life altering: intellectual deficiency, motor delays, many other challenges…
He said: ‘’please, don’t go to internet to see the mutation’’!
What do you think was the first thing that we did? Google the gene mutation name… and our world disappeared under our feet. Jean-François and I cried for two long days. This was too much for us. Why our kid? What we can do?…
The shock was brutal but we went up the slope, not very fast, very very slowly…
WHAT ANTOINE LOVES THE MOST IS…
Antoine has a lot of difficulties for doing things that come natural and are so easy for most children; however, Antoine has his enthusiasm and is always cheerful. Also, he is very empathic. He is attracted to the elderly, sick or disabled. He always has a tender and affectionate gesture for them.
He is a happy, sociable boy who loves meeting people. He is drawn to strangers and enjoys giving them a hug. Listening to music on his ipad, playing with water, and swimming are a few of his favorite activities. Playing with cars and outside with sand or earth are also quite entertaining for him.
HOW HAS SETBP1 MUTATION AFFECTED ANTOINE?
He has a severe learning disability and has complex communication needs. His pronunciation is difficult. He understands a lot of things but has difficulty with abstract concepts. He can not read, write or count. He needs help with dressing, toileting and everyday tasks. He also needs constant supervision to ensure his safety.
He is treated with medications for attention deficit and gastroenterological problems.
HOW HAS SETBP1 MUTATION AFFECTED OUR ENTIRE FAMILY?
Finally, our family is dealing with Antoine’s difficulties day by day. This is not so easy each day but Antoine is our little ray of sunshine in our life.
We are always by his side to explain, repeat, and comfort him and to be proud of him.
The good news for us is also to have real support and contact with people in the same situation with SETBP1 Society.
…“Elisabeth, Jean-Francois, and Antoine are a SETBP1 family living in Montreal, CA”…