CNY Family's Story Shows Struggle and Frustration of Rare Diseases

Mar 1, 2016

Local families suffer from rare diseases that can go diagnosed and untreated. The situation is recognized by an international group for over 6000 conditions.
Credit rarediseaseday.org

  If you or a loved one have ever experienced symptoms that your doctor hasn’t been able to diagnose, you’re not alone. Monday was Rare Disease Day, dedicated to raising awareness about little-known diseases...that can impact patients’ and families' lives.

Central New York native Vicky Wilson has seen first hand the challenges of getting a clear diagnosis for a rare disease.  Wilson’s mother, who’d been an active healthy adult, began to experience balance issues, difficulty going up and down stairs, and slurred speech.

“Initially doctors thought maybe she was having cervical spine issues, maybe it was a small stroke, but we got to a neurologist and everything had shown that it really wasn’t any of those things," said Wilson. "And we were getting kind of desperate because no one could give us answers and my mom was progressing (with symptoms).”

Her mother developed a condition known as Multiple System Atrophy...which affects just 4 in 100,000 people. (Learn more about MSA, symptoms and help here) Difficulty in diagnosing such conditions can be scary for the patient… and frustrating for the doctors.

“I think that the doctors were really trying to help us but they hadn’t seen this before or they, maybe thought of it, but it was so weird that they didn’t consider it," Wilson recalls.  "And then there were other doctors I think who also, because they didn’t know what it was, just sort of brushed us off as well.”

The family found help and a diagnosis at the Mayo Clinic in Minnesota.  

Wilson stresses the need for patients to have advocates who can ask the doctors questions, take notes, and keep at it.

“What I would say is to really just to be persistent and to press your doctors and your health care providers for answers.  A lot of times they’re able to give those answers, but in the case of a rare disease, they might not be.”

A disease is classified as rare when fewer than 200,000 people are affected by it.  

For more information visit the web site at Rare-Disease-Day-dot-org.