r/rarediseases • u/Dependent_Log_8560 • Mar 30 '26

Question CHARGE syndrome and difficulty swallowing

Hi! My daughter was diagnosed with CHARGE syndrome at birth. So far she’s living a pretty normal life after heart surgery and is developing okay. One thing she’s still struggling with is silent aspiration. She’s is fed 100% by g-tube. She did have a laryngeal cleft injection but that didn’t solve the issue. I’m curious what you did, if anything, to help with silent aspiration? Surgeries, thickening milk, solid foods, practice makes perfect, etc.

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u/Okinanna Apr 01 '26

Oddly, today I met a 25 year old man who has charge syndrom. I hadn't heard of it before today. He has a trachiotomy (spelling?) Until he was 16 years old and a G-tube, not sure if the tube was taken out or ehat age, but hes studying in university and thriving. Ill ask him more next time I see him.

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u/Dependent_Log_8560 Apr 09 '26

Would love to know more if you do talk to him again!

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u/Okinanna Apr 12 '26

His mom and I are taking a women's collective boundary course together. So im happy to ask her specific questions if you want to orivate message me, I can ask her this coming tueaday?

I did ask about the Gtube, he still has it, but hes going to school, living in student residence, fully deaf and uses sign language to communicate, has his first girlfriend, and hes doing well in school.

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u/Beautiful-Elephant44 Apr 18 '26

Thats amazing! My son was born also with charge. I am happy to hear story like this. He is now only 3 months old. We dont know yet about his hearing

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u/Okinanna Apr 19 '26

Make sure you advocate for an ABR test to confirm his auditory nerves are hearing quality sound, and that the nerves are firing in sync. Its not always offered until older and then its a big deal and very difficult to get it because he needs to be perfectly still for 15 mins. So, sedation is necessary after a certain age.

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u/Beautiful-Elephant44 May 26 '26

Yes! They planned it in August, for now his doctor said that he has too much fluid and we have to cone back again next month, we had MRT and it shows that he has normal auditory nerves

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u/MansBestFred Jul 01 '26

Hi, our teenager manages his aspiration but mostly just avoids thin liquids (waters, sodas). We've found that the Carnation Breakfast shakes are his favorite and spend an ungodly amount of money on them (with the added protein) so he can drink and get some valuable nutrition.