Can anyone help us?

[Birdie B.]

Hi mamas I have posted here a little about my daughter Meadow, who's 10 months now. She was born with congenital glaucoma but with surgery and corrective lenses she has some vision in one eye. She also has hypotonia, clubfeet, hip dysplasia, unusually soft stretchy skin, and is very tiny. We have been to several hospitals in Florida trying to get everything taken care of.

Most of her providers agree that she has some sort of genetic syndrome linking all her symptoms together. No one knows what it might be. We have seen orthopods, endocrinologists, radiologists, ophthamologists and pediatricians. We took her to a geneticist who performed only a very generic test before giving up (: don't get me started!) and we're on a waiting list to see another geneticist at a large children's hospital. So far, no one knows anything, or even has any guesses.

Recently, it's become apparent that her front fontanel is still very large. This is my first child, so I don't know when it's supposed to close, but her pediatrician and ophthamologist seem very concerned about it. We have an appointment with a neurologist coming up. A brain ultrasound back in April showed no abnormalities, though.

She doesn't appear to have any cognitive delays or intellectual disability, just physical delays. She eats, sleeps and plays very well, and is a happy baby all-around. It's getting exhausting looking for answers, and we just want to have some insight. I thought I'd post this here and see if anyone has seen these sypmtoms or could point me in the right direction. I'll be so grateful!

[KatWrangler]

What about an MRI? Has that been done yet?




Don't give up!

[KatWrangler]

Search here.

http://www.chg.duke.edu/

Call them!

[racie0417]

It sounds a bit like ehlers-danlos syndrome to me. My very dear friends' 10 year old has it. His skin is soft and stretchy and he is double jointed everywhere. He is very tiny and went on growth hormonees last year. I know his infant milestones were delayed, but he is gifted intellectually. I am pretty sure he wasn't diagnosed until 7 or 8.

[blackapple]

I was just dx with Ehlers Danlos and my son most likely has it as well (just awaiting official dx) and he sounds so much like your daughter. See if you can get her to a rheumatologist or another geneticist. Those were the two professions I have been repeatedly told know the best about EDS or other connective tissue disorders.

GL, message me if you want, I don't know a lot yet, but I've got a lot of resources mapped out at least.

[2boyzmama]

She shows *some* characteristics of Zellweger Syndrome, although obviously rather mild. I wonder if Zellweger can be mild?

[Birdie B.]

I'm glad this got bumped back up! Here's a little update:
Meadow is now 17 months, and is doing very well. Her vision is improving all the time, and though she only has use of one eye, she is making good progress. Her fine motor skills show that she can definitely see things around her, possibly up to 6 feet away. She can feed herself and play with toys. She started crawling last week () and while she still struggles with it, we are so so happy that she has figured it out.

We had an MRI done several months ago, and it was normal. Her growth is still very slow, but she is on her own little curve. The endocrinologist wants us to consider growth hormone if she's not catching up by the time she's 2. We'll probably seek a second opinion on that.

We also saw another geneticist at Miami Children's Hospital. All the tests she ran came back normal, but she is re-checking one of them (for some sort of metabolic disorder).

We asked about Ehlers-Danlos, because she seems to fit those symptoms very closely, but all the doctors we've asked have said she doesn't have it. So I don't know. We are starting to accept that we may never know what to call her condition; and we're ok with that because she is doing so well, and is very healthy. She developmentally delayed, but a lot of that is due to her poor vision, and with therapy she will hopefully catch up.

Thanks for taking the time to answer! This is all so confusing, and it gets so hard sometimes. I really wish I knew what to expect, but we'll take it one day at a time.

[Birdie B.]

Originally Posted by 2boyzmama

She shows *some* characteristics of Zellweger Syndrome, although obviously rather mild. I wonder if Zellweger can be mild?

I just looked that up - wow scary!! I don't think she has it, but that may be what the geneticist is testing for. I know she is looking at various metabolic conditions. So far, everything is normal.

[blackapple]

I'm great she is doing her own thing and seeming to improve. As a mama, that's got to be great. Mine do their "own curve" too. I know how it is to feel so helpless sometimes with your children and their health/issues. But you are doing good, you are being tenacious and patient, and that's the best combination!

Also, something to cnsider is that Ehlers Danlos is apparently vey difficult to diagnose officially in children for various reasons unless one of the parents has it. I'm not sure where you live, but it does sound like she has some sort of connective tissue disorder and the two specialists for connective tissue disorders is Dr. Clair Franconamo (sp?) in Baltimore MD and Dr. Brad Tinkle in Cinncinatti. It may be worth a trip to see them, they have tremendous experience with all things connective-tissue and I would bet dollars to donuts they can help get you on the right path.