A Rare Connection

Katie Gossett spends a summer weekend with her family at Mark Twain Lake Jellystone Park in Monroe City, Mo. The 13-year-old from Chebanse, Ill., has a rare condition called arthrogryposis and comes to St. Louis and SSM Health Cardinal Glennon Children’s Hospital to see one of the only pediatric orthopedists who specializes in her disease.

Arthrogryposis multiplex congenita (AMC), or simply arthrogryposis, is diagnosed in only 1 out of every 3,000 births. The condition results in babies being born with multiple stiff and contracted joints and tight muscles. The condition can result in clubbed feet, stiff or flexed knees or fingers, and spine curvatures. While more than 400 types of AMC have been identified, all are considered rare.

“We didn’t know about the condition until I had an ultrasound during my pregnancy at about five or six months,” said Katie’s mom, Nicole Gossett. “The diagnosis was later confirmed through genetic testing after Katie was born.”

The family began a search for someone who was experienced at caring for children with AMC. They turned to an international organization that they found online — Arthrogryposis Multiplex Congenita Support, Inc. (AMCSI). That connection led them to Harold van Bosse, MD, a board-certified pediatric orthopedist who now is recognized worldwide for treating children with limb deformities, including children with two rare diseases, AMC and Prader-Willi Syndrome.

In his specialty clinic, Dr. van Bosse sees patients from across the United States and around the world. Many have followed him as he has moved his practice to St. Louis. Under his care now are patients from Brazil, Singapore, and the Netherlands.

“I've been fortunate to see many children with these rare diseases over the years, and you develop ideas of how to take better care of them over time and you can advance the entire range of treatment options available,” he said. “Over the past 20 years, I have been fortunate to develop several procedures that improve hip and knee contractures and I’ve been able to correct various foot deformities that arise in patients with AMC. For both AMC and Prader-Willi Syndrome, there are more and more non-surgical and surgical options.”

Those options include progressive bracing or casting, called the Ponseti method, like Katie Gossett is going through. Releasing tight muscles and tendons as well as lengthening of bones require surgery, as does changing the rotation of a malformed bone or joint. Dr. van Bosse performs these procedures in legs, hips, knees, and the spine.

Katie, like others diagnosed with AMC, has been through multiple surgeries. She has been a patient of Dr. van Bosse’s since she was six months old.

“It has been so fulfilling to watch Katie grow from a little baby to this young woman," said Dr. van Bosse. "It is every children’s doctor’s dream to see their patient become such a wonderful person: confident, quietly funny, and so strong of spirit. And that has so much to do with who her parents are, two of the most supportive parents around, they consider every treatment decision carefully, yet receive every challenge with a sense of humor. I admire Katie’s outlook on life and her “can-do” mindset, I think it will be truly exciting to see where that energy takes her into her future.”