DiGeorge syndrome? Any info please

Merry - posted on 10/17/2010 ( 5 moms have responded )




A friend of mine just had a baby and he is diagnosed with digeorge syndrome, all I know so far is he had a heart deformity, had surgery, and is facing a long nicu stay. I'm looking up the syndrome myself but I'm wondering if anyone has experienced this or knows anything to explain it.

Any info would help, I don't think she is up to talking about it much so I don't want to ask her...but I'm really curious and want to be able to help her if I can.


Edit: the baby is a boy, named Christopher. He was born last week Tuesday, the 12th.

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Jessica - posted on 07/28/2011




At the age of 4month old my daughter had a heart surgery due to being of the di george syndrome. I never knew she had it when she was born she turn blue almost die took her quickly to the hospital it was so scary i found out she had di george becuase my last son who i give birthh to was born with di george syndrome and the doctor took some blood work and say im the one who passed it on to my kids i was crying the whole day it is sad to find out you have a syndrome thanks for reading my story.

Isabella - posted on 07/01/2011




When my daughter was born may of 2008 she seemed fine..than on her 2 mo old check up they said they hear a heart mummer,than we learn she had a hole in her heart VSD..They repair it when she was 8 mo's old,Oly what they forgot to mention to us when she was done with surgery was that she did not have a thymus gland..we learned that a year later when she went in for a yearly check up to check the heart..they ask if i had any concerns and i said well shes not babbling,she should be at this age or saying one or 2 words,so thats when they discover no Thymus Gland.so they order some blood work,and tested her for 22q11.2 also known as VCFS,& Digeorge syndrom & Shprintzen syndrome..it took 2 weeks for the results to come in,we were walking on pins & needles for 2 weeks..and it came back positive. red flags were not latching on to breast,Heart Promblem,and low immune system,she would get sick a lot before,shes doing better with that now,the older they get,it gets better,but shes 3 now and still no words,we do lots of speecch therapys and O/T Therapys..4 days a week..we went o N.Y To see this Dr.Robert J. Shprintzen AWESOME Dr...we live in florida and traveled all the way to see this Doctor..Great Info!!! also here is a Link of a vido of this doctor

Candace - posted on 03/29/2011




My daughter has DiGeorge. She is seven years old. She missed milestones like walking, talking, has some bowl problems, seizures, and is small for her size. She still wears 4t to 5t clothes. They check calcium levels every so often. The immune system is weak and she has trouble learning in school. She does best with schedules and does not like change. Your friend needs to get a calendar and keep track of when he hits those milestones because that info will be important. He might qualify for special services for speech, ot, and pt to help him catch up later. Someone should look into that. Ask your local school about services like that. Depending on how bad a case of DiGeorge will determine the amount of problems. If the family makes under a certain amount a year they might qualify for SSI. My daughter gets a check to help with expenses. There are a lot of medical personal that do not know what DiGeorge is so they should carry a print out of info about it. I have had to show it several times already at the ER. They need to remember no blood transfusion with out it being irradiated. It has to be clean blood with out as much germs as possible. They need to see a genetic doctor because that doc will be an important helper for him. They can follow and see what he can and can not do bodily. The genetics clinic will help them get in touch of special services as well if the school can not. He needs to have his ears checked. He might have hearing problems. The biggest piece of info is have faith and patience and accept any help offered. My family has helped alot. My daughter loves them and they do their best to help her with day to day tasks like going to the bathroom.. They were understanding with her when she has just now gotten potty trained at the age of 6( just before she turned 7 in Feb.) She must have support to keep her from getting depressed or overwhelmed. So be there and use this info if nothing else to see what kind of stress it can lead to.

Neva - posted on 10/17/2010




DiGeorge syndrome is caused by a chromosomal defect of chromosome 22. It is also known as 22q11.2 deletion syndrome. There are a number of problems associated with this syndrome including heart defects, poor immune system function, cleft palate, poor function of the parathyroid glands( these maintain normal calcium balance in the body) and behavioral disorders. The number and severity of these problems vary greatly with child to child. This child will most likely need treatment from a number of different specialists in a variety of different fields. It is caused either by inheritance of a defective chromosome 22 or by a new defect in chromosome 22 in the developing fetus. Several genes from chromosome 22 are missing. There are support groups. I would have the parents of this child ask lots of questions of the NICU staff. I'm sure that they will give her information along the way on what to expect. I think also that one of the best ways to help your friend is to just be a friend, listen to her, be there for her, and accept this baby for the unique human that he is.

Iridescent - posted on 10/17/2010




This is one of those diseases with multiple characteristics and outcomes. There is a lot she may not know yet, as some only time will tell, plus the fact that it's so hard to give birth in the first place and then find out your baby is very ill... http://www.chw.org/display/PPF/DocID/230... - this shows the various types of features that go with it, and how often each occurs. There are few sites that show information laid out that way, so it may help. It's so caring of you to be there for her, and I'm certain she'll appreciate it (and need it).

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