Looking for a definitive diagnosis

[bailey0919]

I was very excited to find this group :)

One of my twin daughters was born with several of the markers for DiGeorge syndrome: CHD (Tetralogy of Fallot), developmental delays, small stature, submucous cleft palate, low muscle tone, GERD, etc.  Several specialists who have looked at her (including genetics), think she looks just like a DiGeorge child (delicate facial features, overlapping toes, etc), but so far genetic testing has come up with nothing definitive.  Her cardiologist told me that there is a small percentage of children who are believed to be DiGeorge kids, but the testing just doesn't come back positive.  We are on a schedule to for additional testing about every 6 months or so.

She had surgery at 3 months to correct the heart defect and then last year to correct the cleft palate.  One of the puzzling things about her case is that she has had cyclical vomiting episodes (some doctors call it abdominal migraines) since she turned 1.  She is 3 now and on medication to prevent the episodes.  Without medication, they occur every 4 weeks.  Now, she has them every 2-3 months.  They start with no warning, sometimes look like a seizure to start with.  The vomiting is intense and lasts 12-24 hours, usually ending up in the ER, if not hospitalized.  Has anyone heard of this occuring with 22q11 deletion? 

[jordansmom4life]

i think that your daughter def has digeorge..... try researching using the website www.vcfsef.org this is a great website for this syndrome. it also has a list of 180 distinct symptoms of digeorge which you might find helpful. i wonder if genetics ran the FSH part of the chromosomal analysis. this is what showed that my son as digeorge. i would ask them? i have never heard of a digeorge test coming back negative as it is a deletion on chromosome 22. its kind of hard to miss. i  would get a second opinion.  if you need any advice please feel free to write me anytime.