PHOX 2B Mutation

[nathollyandmatthew]

my son is 20 months old and in dec had blood taken by genetics as he has sleep apnoeas and other probs including feeding problems and reflux,
we didnt know what they had tested him for other than it was to check for a genetic conditoon which cases this

we found out today that PHOX2B mutation is what they have tested matthew for, and after doing research definatley sounds like how matthew is

we wont know until may if he has this, but as this is the only test they have done on him and apprently 97% of all people who have matthew symptons have this defected gene

does anyone child have this? or does anyone know anyone with this

thanks
Natalie

i have never heard of this, i did google it and it is also known as ondines curse isnt it. When do you find out?

yeh it use to be known as that it is now known as
Congenital Central Hypoventilation Syndrome

matthew has hypoventilation with his apnoeas

we wont find out til 18th may, we was due to get the results end of march but they re arranged it

Natalie