8 minute read
A Rare Connection
Cardinal Glennon Orthopedist Dedicates Practice to Rare Diseases
Katie Gossett is thrilled to spend a warm weekend in August with her family at Mark Twain Lake Jellystone Park in Monroe City, MO. The 13 year old from Chebanse, IL, is in between two surgeries on her legs to treat a condition called arthrogryposis. She comes to SSM Health Cardinal Glennon Children’s Hospital regularly to see one of the only physicians in the country that treats her rare disease.
“We go camping two to three times a year,” says Katie’s father, Kurt Gossett. “We go to the beach, and we like camping in Jellystone parks in several places. Katie loves the time outdoors and we do, too.”
The fact that both of Katie’s legs are in casts doesn’t stop her from fishing or participating in fun family activities. “I think the casts are kind of cool, and I’ve had leg braces before, too,” Katie says. “When I was in school, everyone wanted to sign the casts!”
Arthrogryposis multiplex congenita (AMC), or simply arthrogryposis, is diagnosed in only one out of every 3,000 births. The condition results in babies being born with multiple stiff and contracted joints and tight muscles. While physicians currently have identified more than 400 types of AMC, all are considered rare. The common denominator for the condition is that an unborn baby does not move properly during development in pregnancy. Joints and tissues become rigid and contracted, which can result in clubbed feet; stiff, flexed knees, fingers, elbows or wrists; and spine curvatures. AMC also can cause problems in hip joint rotation. Beyond orthopedic problems, children may have breathing or other issues that need to be addressed. Treatment requires a comprehensive, skilled approach to manage the condition long-term after birth.
“We didn’t know about the condition until I had an ultrasound during my pregnancy at about five or six months,” recounts Nicole Gossett. “They told us Katie had club feet and another condition called a two-vessel cord.”
Occurring in less than two percent of all births, a two-vessel cord occurs when the umbilical cord has only two blood vessels instead of three. Normally a vein brings nutrients and oxygen directly to the baby from the mother, and two arteries move waste products from the baby back through the umbilical cord. In Katie’s case, she had only one artery.
Nicole Gossett underwent a Cesarean section, and Katie was transported after birth to a hospital in Chicago. After waiting two weeks for the results from a genetic test, the family learned of the AMC diagnosis.
“We didn’t know anything about it; had never heard of it,” notes Kurt Gossett. “We were given a printout about the condition. Katie had to have a feeding tube and splints on her feet and on her wrists to try and treat the contractions.”
The family began searching for someone who was experienced at caring for children with AMC. They turned to an internationally recognized organization that they found online — Arthrogryposis Multiplex Congenita Support, Inc. (AMCSI). That connection led them to a physician in Philadelphia, Harold van Bosse, MD, a boardcertified pediatric orthopedist. Dr. van Bosse is recognized worldwide for treating children with limb deformities, including children with two rare diseases, AMC and Prader-Willi syndrome, a condition that results in low bone mass density, decreased muscle tone, and spine, hip and feet problems.
“I began specializing in AMC in 1998 when I was at the New York University Hospital for Joint Diseases,” says Dr. van Bosse. “We started with a monthly clinic and saw a few patients in the first year. By word of mouth, awareness of the clinic grew, and patients started coming from across the United States and then from around the world.”
Dr. van Bosse moved from New York to Philadelphia and then, in December 2022, to SSM Health Cardinal Glennon. Soon after he opened a specialty clinic devoted to AMC and Prader-Willi Syndrome in St. Louis, patients from throughout the region and from other states began calling.
Like Katie, they followed Dr. van Bosse because of his expertise. Already under his care are patients from Brazil, the Netherlands and Singapore. Earlier this year, he received a patient inquiry from New Zealand.
“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 says. “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 is going through. Releasing tight muscles and tendons, as well as realigning bones, requires surgery, as does changing the rotation of a malformed bone or joint. Dr. van Bosse performs these procedures on the legs, hips, knees and spine.
“...I have been fortunate to develop several procedures that improve hip and knee contractures...”
Like others diagnosed with AMC, Katie has had multiple surgeries. She has been a patient of Dr. van Bosse’s since she was 6 months old. Her father marvels at her strength as he lists the procedures his daughter has gone through so far. “We would commute to Philly when Dr. van Bosse was there, first for serial casting on the legs and then to get splints for Katie’s wrist,” Kurt Gossett says. “There were other leg braces, minor surgeries on her feet and then later, surgeries on the growth plates in her knees, her Achilles tendon and her hips. At Cardinal Glennon, we have had three more surgeries just this year.”
Nicole Gossett adds, “We will go wherever Dr. van Bosse is, because not only is he one of the only doctors who can care for Katie long-term, but also because he is so kind and so compassionate.”
Kurt Gossett nods and becomes emotional as he talks about the “man behind the white coat.” “A couple of weeks ago, I was out of town, and Katie needed a prescription. I couldn’t pull that prescription up on my phone, so I texted the doctor directly since he gave us his number.” He pauses as tears began welling up in his eyes. “He took time out of attending a national conference to get on his own computer and send me the prescription again so that I could have it in time for Katie’s appointment. I mean, it was 8 o’clock at night, and he was there for us. Who does that? He does, and he does it all the time. I can’t say enough good things about how he cares for his patients and their families.”
Those feelings are reflected in multiple letters and emails from patients. “The Best Doctor in the World,” says one family from Puerto Rico. “We moved from Brazil with a lot of hope and trust, just to be close to him,” says another.
Dr. van Bosse is heavily active in national organizations focused on the two rare diseases he treats. This past summer, he made several presentations to physicians attending conferences and to families who traveled to listen and learn about the latest treatments available. While there are a handful of specialists who treat AMC, Dr. van Bosse is the only pediatric orthopedist specializing in PraderWilli Syndrome in the United States.
“My patients are lifelong patients, and I do form strong bonds with many of them,” says Dr. van Bosse. “Kids are now graduating from high school and college, and many are mobile and active. It can be so emotional when I see them at conferences, and they come up and give me huge hugs. It really makes this worthwhile to keep pushing for better ways to treat the complexities of these conditions.”
“I can’t say enough good things about how he cares for his patients and their families.”
“I think he’s a pretty good guy,” smiles Katie, who loves video games in addition to camping and swimming. “Yeah, he’s nice and he’s good!”
“If you have 25,000 questions, he will never rush you,” says Nicole Gossett. “He explains everything and makes us all feel at ease. He’s a rare, special kind of doctor.”
