Brian began walking at 13 months, we noticed that he
was unsteady and he often held his arms above his head for stability and
balance. We talked about it and assumed, "it will come." He was still happy,
beautiful and full of energy. When he started talking, his speech was limited,
we thought "it's coming." He was also drooling, but we thought,
"he's still young."
Finally, we realized that our little buddy needed some
assistance. Early intervention told us that he didn't qualify for services, and
no delay was noted. We didn't agree, but trusted the professionals.
When Brian turned two, he was still
unsteady, had limited speech and was still drooling. We started our
search for a specialist with an answer. After neurological testing, we received a diagnosis of dystonia, a neurological movement disorder that wouldn't ruin his life, just leave him more wobbly than most.
On August 8, 2014 we were given a further diagnosis of a genetic disorder called Ataxia-telangiectasia. It seemed my husband and I were part of the 1% of the population who were carriers of the ATM
gene and together, we passed it on to Brian (AKA recessive).
Roughly 500 children in the United States have it (AKA rare).
Ataxia-telangiectasia is fatal and there is no cure.
Children with A-T are usually confined to
wheelchairs by age 10 and often do not survive their teens.
The specialists tell us he will lose his movement capabilities, his speech will slur, his immune system
and pulmonary function will be compromised, and he will be at higher risk to
For now, we plan to make every moment count, to focus on the NOW. Right
now, Brian has no idea what lies ahead and we plan to keep it that way.