BETHESDA, Md. — On Sunday families and doctors from around the world ran 3.2 miles to spread awareness for Hypothalamic Hamartomas, or HH.
The run was the end of a days-long symposium where doctors and patients from around the world talk about ways to combat the rare disease.
“Because it's so rare, it's a one in 200,000 diagnosis. There's only 10,000 kids in the world that have this condition, 300 kids in the United States that have it. So, the kids are disparate meaning they're all across the world,” Ilene Miller said. Miller is the President of Hope for HH. Her son Mark was diagnosed at age five.
“Mark, who is now 17 years old. He was actually born with an HH, but it took us five years, and a lot of misdiagnosis along the way to get him diagnosed,” Ilene said.
Miller said her son would laugh and space out at times, it wasn’t until later that they realized that he was having seizures.
“He had multiple EEGs and they put they probes on your head so that they can sort of measure the seizures, but the challenge is that unlike other epilepsy is because the tumors it's so deep in the brain,” Ilene said. “Because the seizures are coming literally from the tumor, the EEG which can be really helpful in diagnosing other types of epilepsy is pretty much useless when it comes to HH.”
“The only type of surgery I really remember is getting like staples in my head,” Mark Miller said.
Despite Mark’s hospital stays as a child, he’s done what he has wanted to do. He’s 17 now and a rower and scholar. He’s also preparing for college.
“He’s really overcome a tremendous amount of challenges, and has always persevered and we couldn't be more proud of how he always pushes through, no matter what life throws at him,” Ilene said.
When it comes to Mark’s seizures, he still has them, but he is on the lower end of the spectrum. That doesn’t stop his family from worrying that it could get worse.
“I’ve always been like scared that someday it would just, it comes back again or just like overall something bad happens because of the tumor itself,” Mark’s brother Max Miller said.
Ilene said she’s so thankful that Mark is able to do anything he wants to, but she said so many other families aren’t as lucky.
“Unfortunately, at the other end of the spectrum, we have families that are devastated we have adults that have the cognition of two-year old’s that will never live independent lives,” Ilene said.
Ilene said that is why it’s so critical that her family get the word out through symposiums and 5K races.
“It can be so disruptive and destructive to people's lives,” Craig Miller, Mark’s father said. “That's why getting out spreading the word not only in the community, but also among physicians to be on the lookout for this thing. Originally, they thought it was one in a million, we now know it's more like one and 200,000, but I suspect that if we really did a population studies probably a lot more than that.”
As for Mark, he said he has plans for his future and nothing will stop him.
“I'm gonna go college I'll probably become what I want to become and I don't know. I won't let my epilepsy stop me, you know, I’m just going to live my life,” Mark said.
