NORD 2019: Supporting each other through rare disease

Oct 9, 2019
NORD 2019: Supporting each other through rare disease

Delegates at a meeting of the National Organization for Rare Disorders (NORD) were in tears as a young patient spoke about the importance of her doctor’s unwavering support.

Ninth grader Shauna Sperou, who was diagnosed with Rothmund-Thomson syndrome (RTS) when she was just one, told the audience at the 2019 Living Rare, Living Stronger NORD Patient and Family Forum: “I do not remember when Dr. Wang became Lisa to me, but it was when she became a part of my family.”

With just 14 diagnoses of RTS a year, very few doctors knew anything about the condition, which affects the skin and is a major risk factor for the bone cancer osteosarcoma.

“My mum has been educating doctors, teachers, family and friends for as long as I can remember,” Shauna reveals.

Largest worldwide RTS registry

Dr. Lisa Wang, who works at the Texas Children’s Cancer Center, some 2,000 miles from Shauna’s home, is part of the team behind the largest worldwide registry of people with RTS. She first contacted Shauna and her family when she was looking for registry participants and, in 2017, invited them to the first RTS conference in Houston, Texas.

“We were feeling very alone and did not know anyone (with RTS), so the group gave my family hope and encouragement that was badly needed,” says Shauna, describing the toll her condition has taken on her family.

The importance of peer support

Owen Gray, who was 14 when he was diagnosed with the connective tissue disorder Marfan syndrome, also highlights the importance of peer support in rare disease. “When I was diagnosed it was the hardest thing I have ever had to go through,” he says, adding he had to give up his dream of playing college basketball because Marfan syndrome is associated with heart defects.

“I went through a time of sadness and grief, but then I realized that there must be other people out there who were going through the same thing as me.”

He asked his doctor, Dr. Shaine Morris, if she could put him in touch with patients like himself and the result was lifelong friendship and support. Since then, he has worked with his family, clinicians and fellow patients at Texas Children’s Hospital to raise a staggering $150,000 for the Marfan Foundation.

“But more than that,” adds Dr. Morris, “he has helped to firmly cement our community.”

The hospital now has the strongest, most cohesive Marfan community in the country, and a lot of the credit is due to Owen and his family, she adds.

Building a rare disease community

Dr. Wang also acknowledges the importance of peer support and advocacy and highlighted the critical work NORD does in the rare disease space.

“Without this type of organization to provide the infrastructure to the many different rare disease groups, Shauna would not have had the opportunity to participate in events or connect with the RTS community and become more involved.

“I want to thank NORD because of what it does to solidify and support the rare disease community overall,” she finishes.

NORD 2019: Supporting each other through rare disease

Astellas Patient Advocacy is a function within Corporate Affairs at Astellas that focuses on creating, building and maintaining third-party relationships. We serve as a conduit between Astellas and external stakeholders to help improve patient outcomes, improve access issues and address patients’ unmet needs head on.

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