DiGeorge Syndrome symptomatic, but tests negative - URGENT

A close friend of mine has a beautiful 18 month old boy that is very sick. She has seen multiple paediatricians, natural therapists, GP's - you name it, she's tried it. She's been doing her own research to try and help the (so far useless and uncaring) doctors along, and the closest she's found was DiGeorge Syndrome, but they tested him for it and its come back negative.

This little boy eats and eats and eats, but is losing weight rapidly. She has done her own tests, and confirmed her suspicions that he is excreting what he eats as soon as 10 minutes after eating it. Obviously, the food isn't getting a chance to be absorbed, its coming straight through, which is why he's losing weight. But that's what is so damn scary - she can't get it to stop happening. And doctors don't believe her until she shows them.

I wanted to know if anyone else has had a similar experience, and may have a suggestion as to what it might be? He also has certain facial characteristics unlike his siblings - he sort of looks like a little elfin boy.

Please, my heart is aching for my friend, she is watching her little boy waste away in front of her - there has to be SOMETHING :pray:

:bump:

Sorry, I haven't heard of it myself.

I know when M was very bad with her food allergies and intolerances, she would poo 6-8 times a day and most vegetables came right back out the way they went in. It has more to do with her absorption than anything else, she also lost weight. I would suggest she find a gastrointestinal paediatrician, someone who deals with those issues in particular. I know that there are quite a few things that can affect the absorption of food, so its finding out what is causing it. Google is not your friend in this situation, its most important to get to a children's hospital or somewhere that they have access to different doctors and paediatricians who can help advise.

:hug: it must be scary for your friend.

A geneticist or a metabolic specialist may be able to make a diagnosis.

Oh that's so awful and heartbreaking. Poor little love. I'm afraid I know nothing about this stuff although I agree that they may have to pursue specialist help - and make A LOT of noise until someone takes notice and takes it seriously. Just really wanted to pop in and send my love and support to you, your friend and her gorgeous boy.

Thanks for your help ladies :) I'm not sure of the specific specialists she's been to, I'll hafta ask. After all the tests at the hospital this weekend, she has an appointment with the head paediatrician, the guy that all the other paediatricians in the state hafta answer to, so hopefully things'll be started now. I was kinda hoping someone here would've been through the exact same thing and be able to tell me what it was ;) You've all been very helpful though, I'll pass on your suggestions :hug: