22q11.2deletion aka VCFS or Di-George syndrome

[joenbby]

Hi all

Anyone with kids diagnosed with 22q11.2deletion or Velo-Cardio-Facial/ Di-George syndrome? My DD has been recently diagnosed with this chromosone deletion and she has heart defects that require surgery few days after birth. Would appreciate if anyone can share their experience with me. Thanks.

 

[rae]

hi... sorrie to hear abt your child's condition, but chromosome disorders are very rare and you might not find a match in sgp, else the genetic docs you seeing would told you already. to get more info, you might want to contact this org : unique, Unique - The Rare Chromosome Disorder Support Group - www.RareChromo.org they might have a higher chance for a match, or they can provide info for you.

but frm wat i've read, the prognosis is rather general, and most common probs are GDD, heart, etc, so i've also stopped searching (my ger is a chromosome disorder but no syndrome as it is not a 'regular' deletion/duplication), but juz to focus on treating whatever prob is more urgent.

my ger is now seeing different docs for diff probs in kk, the cardio team juz performed a major open heart surgery on her last aug. if you wan to ask more, you can email me at rynare@gmail.com