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.
Saturday, December 15, 2007
Sunday, December 9, 2007
Friday, December 7, 2007
Tuesday, December 4, 2007
Medical Update
Hello all! Just some updates on medical news to pass along. Addy has been continuing with OT and PT twice a week. We have been seeing great improvements with the help of the therapies.
She just got over a pretty large illness of a double ear infection, pink eye in both eyes and bronchial spasms. The doctor had her on 4 meds including breathing treatments and a liquid steroid. Of course we all know what steroids do- they make you hungry ALL THE TIME! Needless to say, we couldn't keep her from being constantly hungry while on the steroid. This of course was cause for concern, because the pediatrician is still concerned with her rapid weight gain.
Yesterday we saw the ENT for a follow up visit. We are having a hard time keeping her healthy and free of congestion, so she has been on a steroid nose spray for the last several weeks. At this visit she had fluid built up in both ears, but not infected. She has already had 3 ear infections and she's just shy of 7 months. With the fluid build up, the doc decided to redo a hearing test. It was found that she has a significant hearing loss in both ears due to the fluid. Therefore, putting tubes in her ears will be the solution to fixing that. This will take place on December 18th. We were warned of this as a possibly from the start. Having a bifid uvula makes her much more susceptible to ear infections. We are hoping that this procedure will help keep her healthier.
Today we paid a visit to the plastic surgeon who has been following Addison for her hands and her bifid uvula. He would like her to have a speech evaluation at 12 months old to check for hypernasal speech. At that time they would consider whether surgery will be needed to fix the uvula. No further concerns with her hands at this time. We have some day time Benik splints on order through therapy and are anxious to get those.
We also had a weight check today and she is now 20 pounds!!! Oh my goodness!!! I'm sure the pediatrician will not be happy. I guess that's the downfall of being on the steroids.
We have our 6 month follow up appointment with the geneticist next week and are anxiously awaiting that. Addison saw her at a month old and passed two rounds of genetic testing with no syndrome that could be diagnosed at the time. Pretty sure that there is a syndrome of some sort going on, but with all the rare and unknown syndromes that are out there, we may never have exact answers.
That's all for now. We will continue to add updates so check back soon.
She just got over a pretty large illness of a double ear infection, pink eye in both eyes and bronchial spasms. The doctor had her on 4 meds including breathing treatments and a liquid steroid. Of course we all know what steroids do- they make you hungry ALL THE TIME! Needless to say, we couldn't keep her from being constantly hungry while on the steroid. This of course was cause for concern, because the pediatrician is still concerned with her rapid weight gain.
Yesterday we saw the ENT for a follow up visit. We are having a hard time keeping her healthy and free of congestion, so she has been on a steroid nose spray for the last several weeks. At this visit she had fluid built up in both ears, but not infected. She has already had 3 ear infections and she's just shy of 7 months. With the fluid build up, the doc decided to redo a hearing test. It was found that she has a significant hearing loss in both ears due to the fluid. Therefore, putting tubes in her ears will be the solution to fixing that. This will take place on December 18th. We were warned of this as a possibly from the start. Having a bifid uvula makes her much more susceptible to ear infections. We are hoping that this procedure will help keep her healthier.
Today we paid a visit to the plastic surgeon who has been following Addison for her hands and her bifid uvula. He would like her to have a speech evaluation at 12 months old to check for hypernasal speech. At that time they would consider whether surgery will be needed to fix the uvula. No further concerns with her hands at this time. We have some day time Benik splints on order through therapy and are anxious to get those.
We also had a weight check today and she is now 20 pounds!!! Oh my goodness!!! I'm sure the pediatrician will not be happy. I guess that's the downfall of being on the steroids.
We have our 6 month follow up appointment with the geneticist next week and are anxiously awaiting that. Addison saw her at a month old and passed two rounds of genetic testing with no syndrome that could be diagnosed at the time. Pretty sure that there is a syndrome of some sort going on, but with all the rare and unknown syndromes that are out there, we may never have exact answers.
That's all for now. We will continue to add updates so check back soon.
Monday, December 3, 2007
Sunday, December 2, 2007
Christmas Tree
Today Addy became a part of one of the many traditions we have in our family. We went Christmas tree shopping. Since Aaron and I have been together we have cut down a Christmas tree every year and having a baby was not about to stop our tradition. Having her with us made it even more special.
The weather was not the greatest. The night before we got about 2-3 inches of snow and the day consisted of a constant rain/drizzle on top of the snow. The weather didn't stop us though. We bundled up warm, recruited Uncle Graham to help and off we went. Addy just got a new sled and it worked out perfectly for the event. She had a blast and got lots of comments as well!
Happy holiday shopping and decorating to all!
The weather was not the greatest. The night before we got about 2-3 inches of snow and the day consisted of a constant rain/drizzle on top of the snow. The weather didn't stop us though. We bundled up warm, recruited Uncle Graham to help and off we went. Addy just got a new sled and it worked out perfectly for the event. She had a blast and got lots of comments as well!
Happy holiday shopping and decorating to all!
Subscribe to:
Posts (Atom)