Saturday, December 15, 2007

Diagnosis

Well, it's official! Addy has been given a diagnosis of mild Arthrogryoposis.

The full medical term is arthrogryposis multiplex congenita which is a nonprogressive condition characterized by multiple joint contractures found throughout the body at birth. The major cause of arthrogryposis is decreased fetal movements or maternal disorders. During the early stages of development in the womb, the baby typically has normal joint development. As the pregnancy progresses the lack of fetal movement causes extra tissue to develop around the joints. The frequency of occurence is 1 in every 3000 live births. (Was very surprised to read that stat). There is a gene connection with arthrogryposis, however this area is unchartered territory at this point. Therefore, we may never have exact answers exactly why this happened or if we are at risk for possible pregnancies in the future.

Addy has a mild case of arthrogryposis, which we are very fortunate for. In her case life span should not be affected nor should her ability to be functional as she gets older. She will continue to receive OT and PT to increase the mobility in all her joints.

When you see Addy, you might ask yourself, "What exactly seems to be her issues, because she looks pretty normal at just a glance." Well, here are a few of the issues that have led doctors to this diagnosis. She has wrists that are extremely tight with very little downward flexion. She has the ulnar deviation of her fingers on both hands, with the left presenting more noticeably than the right. She also had one finger contracture at birth. The tightness continues throughout most of her upper body, with her shoulders and neck being affected. Her neck is so tight that she hardly has any mobility in turning to look left without turning her whole body. She can lift her arms up to eye level, but beyond that is painful. Her ankles are a little on the tight side as well. Immediately at birth, comments were made about her feet. After examination doctors say that her feet present as if she were just on the verge of club feet, with some of her toes having a different look to them.

Along with these symptoms she also has some small things that can be found in association with arthrgryposis. These include a bifid uvula, feeding issues, short neck and we are unsure yet about the possibility of a small stature.

So, with all that being said, it really doesn't change much with how we will work with her as far as therapy goes. I am now on a mission to find a doctor who specializes in or has a great interest in Arthrogryposis. I think it's important that someone extremely familiar with the condition follow her as she grows. She is going back to Early Intervention in January and with the diagnosis it is almost a sure bet that she will qualify. That also means that she too will qualify to begin school at age 3. Mom is happy about that. I would take that with or without a disability. Also means, that she will probably eventually receive a special education label of POHI. I am just blown away with what a coincidence this all seems to be, with her own mom being a POHI teacher. I guess God knew that he was sending her down to the right parents. We will continue to love her and give her the best life that we possibly can.

2 comments:

Suzanne said...

Your daughter is adorable! I found your blog when searching arthrogryposis.....I have two little ones with it and your daughter reminds me much of my own, she just turned two. Addison looks like she's doing great...keep up the good work!

Jamilyn M. Kraft said...

Hi,

I just tried signing the guest book with a sideways photo, oops! My name is Jami Kraft (Colorado) if you can give me a email, I would very much love to correspond for a few minutes, thanks!
Jami