DiGeorge

Pediatric Critical Care Columnist · Jul 8, 2009

There's an excellent article on DiGeorge syndrome on Medscape: http://emedicine.medscape.com/article/135711-overview

I work in a primarily cardiac surgical ICU and we see a significant number of babies with DiGeorge syndrome each year. (We do in the range of about 600 cardiac surgeries a year.) In the right hands, the surgical repair for these kids is successful and they recover fully. There are special considerations, in that these kiddies usually have some immunodeficiency (absent thymus) and hypocalcemia. They require prophylaxis with antibiotics for even minor procedures and should be treated similarly to transplant patients. That's not so say they should be kept in a bubble but reasonable precautions to prevent infection are never wasted. Regular calcium supplements and a carefully monitored diet should reduce the risks of hypocalcemia.

There are often behavioural effects of this 22q11 deletion. Some DiGeorge kids I've known have been absolute demons, and others are as sweet as can be. So much depends on parenting, as for any other kid.

If your niece receives multidisciplinary care and long-term follow-up, she probably has a good prognosis. I suggest you ask around for the name of a pediatirician in your area that cares for a large number of special needs children and make an appointment to talk to him or her. See if you can find out more specific information about your niece so that you can ask really appropriate questions. My guess is that you don't live in the same city as your niece, so this will provide you some objective information and a sounding board for questions, reflections and concerns.

1louise1 · Jul 8, 2009

thank you for your insight and the article!