Hi everyone. My son is 20 months old. He was born with foot deformities (congenital vertical talus), bitemperal narrowing, low nasal bridge, hyper flexible joints, unibrow etc. Down's syndrome and William's syndrome have been ruled out and we still don't know what he has. I was hoping to connect with someone who can sympathize. I'm feeling very alone. Thanks.
Child has an unknown syndrome. Anyone in the same boat?
So we know something of what his condition does but we don't have a name yet or prognosis. It's been 6 years since we first realized his health issues were metabolic and the carnitine deficiency was treated.
We did a DNA sequence and found mutations that are likely be significant. However, they don't know what they mean yet. So we treat what we know and wait. I always assumed genetic conditions were easier to diagnose than the metabolic conditions. I guess not. I know it's hard. Many hugs to you.
Thanks for replying, ladies. My son also has epicanthal folds, narrowly set eyes and a large spot on the back of his head (present at birth) that looks like a cafe latte mark. He has a crease all the way around both thumbs and super flexible fingers/toes. He has gone from globally delayed (diagnosed at 8 months) to cognitively delayed (diagnosed at 19 months). We have not done an entire workup with a geneticist because it is soooo expensive. I was told $4,000 for the first visit with follow ups needed. Yikes! His doctor visually ruled out Down's syndrome and we did a very specific test for William's Syndrome which came back negative. Peony, this is a picture of my son at about three months of age. Does he look anything like your little boy? I am curious as they seem to have so much in common.
While my daughter has a lot of differences from your son, I can definitely sympathize with you. She will be 4 next week and is still undiagnosed. At this point the doctors are saying that she has a syndrome that has yet to be heard of. I understand how frustrating it can be to not have any answers. She was born with brain abnormalities and profoundly deaf, duane's syndrome and abnormal eye movements, is globally and cognitively delayed, and just started walking at 3 years old. She also has diabetes insipidus, autonomic dysfunction, recurrent fever syndrome, and has recently started having seizures as well. I hope you find answers. We have done every genetic work up they can think of running on her that would explain all of her symptoms and every test we have run has come back normal. Hopefully you get answers. Hugs!