extra alanines to the polyalanine tracts in the PHOX2B protein. This type of mutation is called a polyalanine repeat expansion.
What the heck does this mean??? OK so I do know what the above two sentences mean. However 11 years ago I wouldn't have, and neither would have anyone else at the time.
In 2003 independent research efforts in France, the US and Italy confirmed the key role of a de novo mutation of the PHOX2B gene in over 90% of CCHS cases.
This is truly what happens when you have a special needs child. You find yourself in your spare time researching, researching and researching.Without formal education, we could become board certified in neurology, endocrinology, and pulmonary.
Why you ask?? Why do we do all of this hard work when we all have tons of specialist? I mean what is spare time really when you spend most of your time trying to keep your kid alive?
Because, to us our special children are indeed "special" to us, and we see ability when the world just sees the "DIS"
It does not matter how hard we work, how many sleepless nights we have, how many social engagements we will never go to. WE will do what ever it takes to make sure we get what our children need to survive, and to flourish