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1035252 tn?1427231433
friend's 2-year-old has a rare chromosomal deletion???
I'm really hoping someone here can help me out with some information..... 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 :)
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If your friends are not working with a geneticist, they should be.  A geneticist can explain everything about this, what to expect, any treatments, etc.  This would be their very best resource.
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I know this post is old, but my son was just diagnoes yesterday with a deletion of the short arm of his 16th chromosome as well as a large portion of his 5th chromosome. He is 13 months old and is moderately delayed developmentally, very small (though was born normal size and began to taper off in growth around 6 months), and also is very far behind in speech and communication skills.
The interesting thing you mentioned that I never thought about in connection to this before is that my son, too, suffers severe allergies. Cow's milk and eggs cause terrible symptoms in him. He was only breastfed for 5 months so I don't know if he would have developed an allergy to breastmilk, but the reaction to cow's milk formula was immediate.
I am wondering how it has turned out for your friend's daughter? Our geneticist says that they have never seen these deletions together before and frankly can't tell us anything to expect or do except continue with physical/occupational/speech therapy.
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