When Abigail was born in 2005 with amyoplasia, her mother, Ani, wanted to learn all she could about the condition, which is among a group of rare muscle disorders known as arthrogryposis multiplex congenita (AMC), or arthrogryposis. So Ani started a website, which eventually developed into Arthrogryposis Multiplex Congenita Support, Inc. (AMCSI), a support group and resource for affected families. Now, the group hosts an annual conference to allow families and medical professionals to share experiences and research.
What is AMC?
AMC is characterized by the presence of contractures at birth, affecting more than one body part, and abnormal muscle development. Shriners Hospitals for Children is known for its expertise and knowledge in treating this condition. Patients from as far away as Europe and even Asia have come to us for treatment.
“When the unborn baby is moving during pregnancy, the muscles and ligaments are being stretched. You know the wrinkles on your knuckles? They should be present at birth. They indicate movement. When something goes wrong and the baby stops moving – and up to 400 different abnormalities can cause this – it can result in arthrogryposis,” said Harold van Bosse, M.D., orthopaedic surgeon at Shriners Hospitals for Children — Philadelphia. Approximately 75% to 80% of Dr. van Bosse’s work at the Philadelphia Shriners Hospital is dedicated to helping children who have arthrogryposis.
A special event
This year’s 14th annual AMCSI conference drew about 600 participants and gave patients and families a powerful opportunity to connect and share stories. One young boy said this is the best week of his year and he is sad when he leaves. A mom of a 19-year-old patient hugged and encouraged a mother of a 7-month-old with the condition.
The conference is also attended by medical and research professionals, and several staff members from Shriners Hospitals for Children were on hand to share their expertise and insights into the rare disorder. These included Dr. van Bosse; Dan Zlotolow, M.D.; and Sarah Nossov, M.D., of the Philadelphia Shriners Hospital; Lauren Hyer, M.D., of the Greenville Shriners Hospital; and a team from Shriners Hospitals for Children — Canada. Topics discussed ranged from “AMC 101” to the ever-growing body of research on AMC.
“This conference is always one of the year’s highlights for me. I was fortunate to hear about AMCSI right after their first meeting, and have been able to participate in every meeting since then. It is such a joy watching all the children run or zoom around, just being full-bore, spontaneous kids with no concern for who’s got AMC or not,” said Dr. van Bosse, who is also a member of the AMCSI board of directors. “And the emotional moments, such as when a person with AMC or a parent meets another person with AMC for the first time ever. Sure, the talks are important, but it’s those moments that make the meeting memorable.”