Arthrogryposis

Arthrogry...whatsis?????? Yes, we finally got a diagnosis on Gabbie's condition. This month has been a very busy one for her with doctor appointments. It started with her appointment at Shriners. We had such high hopes for that, as I mentioned on the previous post, but nothing... Then we had a very good appointment with her physical therapist at Kaiser, who said we should take matters into our own hands and fight for what we want. She helped us by getting an appointment with an orthotist to get his opinion on bracing. We went there and the orthotist said he thought we needed to brace her feet now, that he was particularly worried with the right foot. The same day he got the measurements and was going to send it through Kaiser for approval. We got that feeling that we were finally moving forward!

Then we had her 12 month appointment with her pediatrician. It was a tough one because she got 6 vaccines (3 on each leg) on that appointment, but many positives came out of it. We discussed genetic testing with him, and he was all for it. In fact, truth be told, he wanted genetic testing done 10 months ago, but at that point he wanted to rule out spina bifida, which we already knew wasn't the case. So he put the referral for the genetics department immediately and on the same day we were already taking her to the lab to get blood for the tests (poor thing... on top of the 6 shots and ON her birthday). She was a trooper! We also got a referral to an orthopedist and a nutritionist, since her weight gain is very poor.

The appointment with the orthopedist was uneventful, pretty much she just told us that she thinks Gabbie will need surgeries soon to release the tendons on her feet, and referred us to the surgeon (appointment next week) to get his opinion.

The appointment with the geneticist was great. Both the geneticist and the counselor are awesome doctors, and listened to us and discussed her condition for one hour! We felt like they were treating us very fairly, and that they were really listening. They diagnosed her condition as mild arthrogryposis. In her case, it only affected her legs, with mild contractures on the knees and tight ones in her feet. It is actually much more prevalent than we thought - 1 in 3,000 babies. Doctors were very positive, and believe that Gabbie will be able to have a close to normal life and even run a marathon in her 20s if she wants to. We were so happy to hear all that. But then we got home and started researching about this condition and looking at the information online brought us to tears. Reading about it was disheartening, it was like it brought a whole new level of reality to us. I cried - a lot. My husband couldn't talk about it for 3 days. I know that we are very blessed, she is my perfect baby, but it is always difficult to hear, and see, and read. I think that deep down, while we didn't have a diagnosis, we still believed that it could be positional, and that, with time, it would go away and she would overcome all this. Well, I still believe she will overcome whatever is on her way, but now we know that she will need a lot of help. She will need a series of surgeries for many years, intensive physical therapy, and all the help we can give her to increase her range of motion.

I know that the best we can do for her is to stay positive, learn as much as we can and give her all our love. She has a tough road ahead of her, but she surely already showed us that she has the right personality to overcome all this. Tomorrow she will get her first pair of braces, and I am scared, and stressed! But we know she will take all this like a pro! I just don't know how mommy and daddy will take it...