ROSEDALE, Md. — One in every 10 Americans has a rare disease.
A nationally-recognized day, Rare Disease Day aims to raise awareness for folks living with rare diseases.
Through a 14-year-long process to find a diagnosis - Jeneva Stone learned her son, Robert, has Dystonia 16.
"He’s the only reported case of Dystonia 16 in the United States," Stone told WMAR-2 News, "and he’s among only 20 cases worldwide."
"We’ve put our entire lives into finding solutions for Robert’s medical needs, a diagnosis, treatments," said Stone. "It’s what rare disease patients go through every single day."
The Stones are based in Bethesda, and testified to Maryland state lawmakers a few weeks ago - to create a rare disease advisory council to advise legislators on rare disease issues.
"It’s important that we recognize it because it’s an opportunity to give light to these conditions that are not commonly talked about," said Dr. Parag Gandhi, owner of Maryland Eye and Face in Rosedale.
Gandhi sees patients every week with a rare disease called Thyroid Eye Disease - inflammation in the eye socket.
Remedies can range anywhere from medicine to, in some cases, surgery.
"Even though it is kind of a rare condition in the general public, for us, since we have a referral practice, we tend to see it a little bit more often," Dr. Gandhi added.
Rare Disease Day is Tuesday, February 28.
To find a Thyroid Eye Disease doctor near you, click here.
