Hi...I was hoping you could help me out with something! A dear friend of mine just found out that her 2-year-old daughter has a rare chromosomal deletion, apparently she is missing the short arm of chromosome 16? She's got a severe protein allergy and receives special formula through a G-tube in her stomach....she also has speech delays as a result of this rare chromosomal problem. I was wondering what are the treatment options for this? Do they have genetic therapy that they can perform to help her overcome this deficiency? I am asking because, while I know my friends are exploring every avenue of knowledge/treatment, I was hoping maybe I could help them come up with some more knowledge. I would appreciate any help you can offer....I know this is a very rare condition, but I'm just hoping to help them shed some light on this situation. They've been trying to come up with an answer for this ever since their baby started showing severe allergies to breastmilk at around a year of age and her growth began to stunt. They finally have this answer, but it's not really much of an answer and I know they're relieved to know but frustrated at not knowing more!! Thank you for your help :)
We recommend that your friend's child meet with a medical geneticist, who is a physician that specializes in the diagnosis, management and treatment of genetic disorders such as chromosome abnormalities. Sometimes, in cases of really rare disorders, there is limited information available about what to expect in the future, as only a few cases (if any at all) have been documented. We wish your friend's family the best.
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