The Vasickanin family, with Ryan at the center, poses for a family photo.
FOR IMMEDIATE RELEASE
Newswise — To mark progress on rare diseases, experts across the country, including those at Johns Hopkins Medicine, will celebrate Rare Disease Day on Feb. 28.
About 10% of the U.S. population has a rare disease — that’s 25 to 30 million people with such conditions, according to the National Organization for Rare Disorders. There are more than 8,000 known rare disorders, some of which you are born with while others develop over time. All pediatric cancers are considered rare diseases — and the majority of rare diseases have a genetic root.
“Rare Disease Day recognizes our progress in improving the lives of patients and families through scientific advancements,” says Amy Patterson, M.S., C.G.C., genetic counselor in the Department of Genetic Medicine at the Johns Hopkins University School of Medicine. “A diagnosis is the first positive step toward finding the right care plan for our patients.”
As key members of the Johns Hopkins Department of Genetic Medicine, genetic counselors help patients with rare diseases navigate their care and find the right genetic tests and treatments. Yet studies show that more awareness about genetic counselors is needed. In of 188 individuals in Canada, researchers from the University of British Columbia found that nearly 70% of respondents had never heard of genetic counseling before.
Patterson is available for interviews with reporters to discuss rare diseases and the role of genetic counselors. Also available are parents Tina and Ryan Vasickanin, whose 4-year-old son, Ryan, was diagnosed with a rare disease affecting the bones. The Vasickanin family says that without the expertise of genetic counselors and prompt, life-saving treatment when Ryan was born, he would not be the happy and active little boy he is today.
For an interview with Patterson, other experts, or the Vasickanin family, contact Alex Carolan or Vanessa Wasta. The contact information for both media representatives is listed above.
Topics for stories could include:
- Diagnosing a rare disease, a process that often starts with meeting a genetic counselor.
- Genetic counselors’ role in navigating treatment and coordinating lifelong care.
- Who should meet with a genetic counselor?
- Types of genetic tests, and how to interpret results.
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