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...

And we have a crawler!

Yes, I know, that's what babies do!!! But if you have read my previous posts you know that our Gabbie has had her share of struggles in that department. Crawling is difficult for her because of the position of her feet, or more specifically because she can't flex them, so it may really hurt to crawl. But she finally realized that crawling is more effective than dragging her body on the floor. The first day we saw her doing that was in the first days of October, so a little before 11 months. My husband and I kept staring at each other, as if not believing what we were watching. It may seem very silly but we both had tears in our eyes, we realized we were both crying, it was a very emotional moment. It is interesting how we take certain things for granted and then we realize that they are not granted, we did not know until that moment if she was ever going to be able to crawl. Babies can't exactly tell us these things, and as the doctor at Shriners told us in the last appointment, it was up to her now, there is no way to know what she will be capable of. Then the next days she decided she didn't want to do it any more. But a couple of days later she tried again and now she goes everywhere crawling. This picture was taken at Halloween (wasn't she a cute little duck?). Notice the position of the foot when she crawls.

 Once in a while she still tries the army crawling/dragging crawl, but she know it is better the "right" way. And now she is trying to stand. She still has no strength at all on the lower legs, so technically she can't, but she wants to. We thought timing was great because we would have our next appointment at Shriners the following weeks. The doctor had said that once she is trying to stand, he would give her braces, to force the feet down a little more and give her some leg support. We had such high hopes that she was ready for that, and that the following week we would be getting them. But then the day for the appointment came and I was so nervous! We had to wait for so long. We finally saw the doctor, and unfortunately he didn't tell us anything different than what he had told us 3 months before. Now he said to wait until she is 18 months, because technically babies usually walk anywhere between 9 and 16 months, so she is still within that range. I was so frustrated!!!! She is trying so hard! And she is getting frustrated too, because now she is more aware of things and gets frustrated. We left that appointment so sad, so many questions that no one can answer for us. They want to do another EMG, this time on the quadriceps, because they think they are equally weak. We will go back in 3 months for that but they won't see her for braces for another 6 months. This wait is horrible!

In addition, we have been doing a lot of research, trying to find out what is wrong, what caused that on her. As the doctor at Shriners said, she is a normal baby from the waist up. He said he has to treat her as a spina bifida baby, but she is not. So what is it? We came across some rare chromosomal deletions, specifically one called 10q26, and the more we read about it, the more we think it may be a possibility, so we asked the doctor at Shriners to test for it, and his answer was "your baby is normal, she does not have a genetic condition". What doctors sometimes fail to recognize is that depending on where in the leg of the chromosome the breakage is, symptoms can be very mild, and sometimes adults don't even know they have it. But we haven't lost our hopes yet. We will try to talk to her pediatrician on her 12 month appointment and see if he will do it!

Other than that, she continues to be the happiest baby I know, always smiling, very playful, just a happy kid, which also bring tears to my eyes every time I say or write about that, because that in itself is a lesson for us. She only gets upset for a very short period of time, and forgets about it quickly. What a happy baby!

What do you mean "you don't know" ? We have to wait again?

We finally had our appointment back at Shriner's after the MRI. We received good and bad news. The good news is the MRI of both the brain and spinal cord were normal, they did not find anything wrong. That was a relief because it means she has no neurological developmental damage in that sense, but now we are back at stage zero again. WHAT IS WRONG THEN?????? Here is her latest picture.  Her feet are still very dorsiflexed, and the doctors now believe that she has some congenital absence of some anterior horn cells, which gives it a pattern similar to what they sometimes see in cases of arthrogryposis. Not very reassuring... But the doctor said that more than a leg function, walking is pretty much a brain decision. She needs to decide that she is going to try to stand up. That life will be more interesting that way. For now, she is very comfortable commando-crawling everywhere. She still hasn't sat up by herself, so she is very delayed developmentally at least in the physical part. We need to wait for her to decide to do these things before we can proceed. Then they will try to do serial casting again to try to bring the feet down a little more so that she doesn't walk on her heels, and then , when she is much older, they think she will need surgery on her legs/feet to do a surgical release and transfer of the anterior ankle moving one of the muscles to the calcaneus. In summary, we have a rough road ahead of us, but it was certainly a relief to hear that her brain and spinal cord are normal. But now we wait again, this time we wait for Gabbie to decide to sit up, stand up, etc. Only then we can move to our next steps in this journey.