WHAT IS ARTHROGRYPOSIS?
Avery was born with a rare birth defect called arthrogryposis multiplex congenita (arthrogryposis or AMC for short). AMC is a generic term used to describe multiple (more than one) congenital (from birth) contractures (limitations of movement of a joint). AMC is usually non-progressive and it is usually not genetic (there are some types however that can be both progressive and genetic). AMC is usually not fatal. AMC is considered a rare disorder (1 in 3000). In addition to the presence of multiple joint contractures, there are also underdeveloped muscles. AMC varies greatly from one person to another and can affect upper extremities as well as lower extremities. For more information on arthrogryposis you can visit the amcsupport website. http://www.amcsupport.org/faq1.htm
How does Arthrogryposis affect Avery?
Avery is affected in her lower extremities. She was born with bilateral (both) club feet, a dislocated left hip and hyper-extended right knee (bent 30 degrees in the opposite direction) as well as decreased muscle mass and tone in both legs. Avery's left knee is also hyper-extensible. Her spine is affected by arthrogryposis and shows a hypotonic (low-tone) kyphosis (hunched over) .
We have seen and spoken with several doctors throughout the country and they have been unable to diagnose Avery with a specific type of AMC. There are hundreds of different syndromes/conditions that actually cause arthrogryposis. At one point it was suggested that Avery may possibly have something called Larsen's Syndrome which actually caused her arthrogryposis, but Avery had this genetic test done and she tested negative. Her geneticist also believed she may have had something called Robinow Syndrome. Robinow Syndrome is extremely rare and there are only about 200 known cases in the United States. Avery had the genetic test completed for this and it came back negative. We've recently been in contact with Avery's genetic counselor and geneticist and she said that they have consulted with Dr. Judith Hall (renowned amc geneticist in Seattle) and they have now come up with another "possible condition, newly described" and would like for Avery to have a specific spine x-ray. After a few phone calls and e-mails we found that the new condition is "Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis". Avery had another set of spine x-rays in order to pursue the possibility of Avery having this condition and her x-rays appear normal.
Avery has undergone a total of six surgeries (three on her feet and two on her hip and one to put tubes in her ears). Avery also suffered from a broken tibia (foot) and broken femur (leg) which was caused by osteoporosis. She also had a repeat fracture of her tibia. The osteoporosis is a result of her not "using" her legs for crawling, walking or bearing weight during her first 17 months of her life. She has been in casts or braces for most of her life. At 2 years of age she was placed back into casts due to a regression in her feet. When Avery is not in casts she wears braces 22 hours of the day.
We more recently learned that Avery may have to have another surgery on her hip due to avascular necrosis (the head of her hip is dying) and hip dysplasia. Her doctor is going to wait on this surgery for a little awhile until she is a little older. He also discussed a the possibility of another surgery on her left foot if correction is not made with casting and bracing.
Avery has a slight speech delay (testing puts her at around a 9 month delay). Her therapists believe that some of the delay stems from oral motor control issues. Which basically means that Avery lacks some muscle control of her mouth and tongue (low muscle tone).
We also recently learned on our recent trip to Cincinnati Children's Hospital that Avery has a redundant left colon. This means that her colon has an extra loop in it. This coupled with the fact that she has low muscle tone, is causing some issues with constipation. Avery also underwent testing to check for a neurogenic bladder. The result was, that she does not currently have one, but may be developing a neurogenic bladder.
What is Avery's prognosis?
None of the doctors that we have seen have been able to tell us for certain what Avery's future holds. Some of the previous doctors we saw told us that she would never walk. Well, if you've had a chance to look at her website you can see that she proved them wrong and took her first unassisted steps at 2 1/2 years old. By the time she turned 3 years old she was walking totally unassisted!!
Despite everything she has been through, Avery continues to be an extremely content and happy little girl. Now at three years old, she is your typical spunky and feisty toddler. She continues to amaze us with her achievements and accomplishments every day.
