(WTRF) – When we go to a doctor with a medical issue we expect there to be a cure, but what if there wasn’t?
What if our symptoms progressed each day with no help?
For the millions of people with rare diseases across the world doctors visits still leave questions and hopes for a cure.
In honor of Rare Disease Day, a man who’s devoted his life to serving others in the Ohio Valley is sharing his story. He’s kept it private for some time, but feels advocating is the best way to make sure others find answers they may need.
Rare diseases are common. There are 300 million people with rare diseases, it’s just that there are many many different rare diseases.
Dr. Jonathan Miner, Associate Professor of Medicine, University of Pennsylvania Perelman School of Medicine
RVCL, or retinal vasculopathy with cerebral leukoencephalopathy, is considered one of the 6,000 rare diseases.
There’s about 60 known families, and about 250 individuals, that are impacted across the country.
One of them, has ties to the Ohio Valley.
The disease ultimately creates extreme fatigue. When people ask me what it’s like I compare it to what somebody has with severe COVID. They talk about they just can’t do anything. That’s almost a daily feeling for us.
Jeremy Harrison, Diagnosed with RVCL
While many would know Jeremy Harrison for his advocacy for veterans through Helping Heroes, he and his family have been fighting another battle for several years.
Jeremy and two of his brothers, Jesse and Jody, were all diagnosed with RVCL.
All three had kidney issues, and knew something wasn’t quite right with their health. Jody was diagnosed with vasculopathy, but it wasn’t until Jesse got his vision checked that questions turned into answers.
He was starting to have problems with his eyes, so he went to an ophthalmologist who actually had worked for a period of time with the doctor that discovered this disease.
Jeremy Harrison, Diagnosed with RVCL
That chance appointment led to genetic testing and ultimately a diagnosis.
Jeremy said it’s a miracle the way the circumstanced played out that lead to the discovery of his family’s RVCL.
He explained they knew other family members had died young, but never knew why.
That diagnosed came in 2021, just as a clinical trial was getting started.
It just so happens that when they came in contact with us there were 17 people in the study and they were looking for three more. So, they got me, my brother Jesse and my brother Jody in the trial.
Jeremy Harrison, Diagnosed with RVCL
All three ended up in a clinical trial at the University of Pennsylvania, under the care of Dr. Jonathan Miner.
Dr. Miner said one of the reasons that RVCL is often misdiagnosed is because it mirrors symptoms from other diseases.
They have disease involving the brain that looks very much like multiple sclerosis or they can have eye disease that looks very much like diabetic eye disease. They can also have kidney and liver disease that mimic other conditions.
Dr. Jonathan Miner, Associate Professor of Medicine, University of Pennsylvania Perelman School of Medicine
RVCL is a genetic disease that affects the small blood vessels.
It comes from a single gene that mutates and effects about 50% of a family. Symptoms typically don’t start until a person reaches the age of 35 to 50. Once they’re detected, it’s about a five to 15 year life span.
The RVCL trail at the University of Pennsylvania treats patients with a drug called crizanlizumab.
Jeremy travels to the University of Pennsylvania every month for treatment, as he’s done for the last two years. Every six-months he goes to Washington University for testing.
In patients with RVCL, part of what happens is that the mutation that they have causes their small blood vessels to be damage and they end up losing blood flow to parts of the retina and brain and other organs. So, this drug is well known to help keep small blood vessels open in patients that have sickle-cell disease.
Dr. Jonathan Miner, Associate Professor of Medicine, University of Pennsylvania Perelman School of Medicine
Jeremy’s brother Jody died last summer from RVCL.
The disease had progressed to a point where there was really nothing they could do about it by the time they figured out what it was and it wouldn’t have mattered anyway. There’s no treatment and there’s no cure for this disease.
Jeremy Harrison, Diagnosed with RVCL
Even after his brother’s passing, Jeremy remains determined to advocate for other families who need answers, just like his.
It doesn’t matter what you do or who you are, it’s going to effect everybody. In my position in the community a lot of veterans end up having rare diseases because of the service that they have. Look at all the guys who died from exposure to “Agent Orange” and other agents. There’s a list of them.
Jeremy Harrison, Diagnosed with RVCL
Jeremy has used his diagnosis to help educate his doctors here locally and at the V.A., but he also feels it will help with his work with veterans in the Ohio Valley.
He encourages people who have a rare disease to talk about it and raise awareness. He also wants everyone to pay attention to their own health and their family’s history.
As for the clinical trial, Dr. Miner said he doesn’t have results yet because the trial not quite finished.
When it’s over, the participants will have several options to continue treatment as studies continue.
We don’t know yet whether it will be effective, but the hope is that it will slow down the disease and buy time while we work to develop personalized medicines that are designed specifically for these patients and this disease.
Dr. Jonathan Miner, Associate Professor of Medicine, University of Pennsylvania Perelman School of Medicine
Dr. Miner says that while genetic testing is important, but if someone is going to pursue it, the testing should be done with an expert physician to get the best results and answers.
