Total pages in book: 99
Estimated words: 96141 (not accurate)
Estimated Reading Time in minutes: 481(@200wpm)___ 385(@250wpm)___ 320(@300wpm)
Estimated words: 96141 (not accurate)
Estimated Reading Time in minutes: 481(@200wpm)___ 385(@250wpm)___ 320(@300wpm)
“Does that mean I don’t have Parkinson’s?” My brother said.
Uncle Joe shook his head. “No. You don’t have Parkinson’s, son.”
Jayce’s head tilted back to the ceiling, and his shoulders slumped with relief. “Thank God.”
The excitement I felt was short-lived after I took a look at my uncle’s face. He wasn’t relieved like we were. I suddenly thought sitting down was a good idea.
“There are some conditions that have very similar symptoms to other conditions. Even yesterday when I learned all about the symptoms you’ve encountered over the years, it still sounded like Parkinson’s. And while seizure isn’t a common ailment of those suffering from the disease, there is a known comorbidity between Parkinson’s and epilepsy.”
“So I have epilepsy?”
“No, you don’t have epilepsy either. I’m sorry. I’m confusing things by going into all of this explanation. I just wanted you to understand that sometimes symptoms can present in a manner that leads to a diagnosis, but without proper testing, there’s no way to truly confirm what you’re dealing with. Your mother is gone almost two years now, and we’re still guessing since she refused testing. We’ll never be one-hundred-percent certain, but the genetic condition you have now leads us to believe she didn’t suffer from Parkinson’s either.”
“Genetic condition? What’s wrong with me?”
My uncle’s eyes teared up. “You have a genetic condition known as Huntington’s disease, Jayce. Yours is considered juvenile Huntington’s disease because of your age when you first started to experience symptoms. It’s an inherited defect in a single gene, an autosomal dominant disorder. It causes progressive degeneration of nerve cells in the brain, which impacts a person’s ability to move, among other things. That’s why you’ve been tripping and had some hand tremors. At the start, it can mimic things someone might do when they’ve had too much to drink.”
“At the start? What else is it going to do to me?”
“It’s difficult to know for sure, especially in cases of juvenile-onset Huntington’s, because it’s rare. But most people will have impaired movement and cognitive issues.”
“Cognitive? It’s going to affect the way I think? Like how? Mom always seemed depressed, but we assumed that was because she didn’t feel good.”
“Most likely that was due to Huntington’s. Dr. Kohan is going to come in and talk to you in detail in a little while. He’s an expert in the field and will go over everything and answer all of your questions. I know the basics, but since juvenile Huntington’s is not common and the symptoms present differently, he’s in a better position to explain things to you.”
My head spun, and my brother looked shell shocked.
“Is there a cure for Huntington’s?” I asked.
The look on my uncle’s face answered the question. “Not as of today, no. But science makes new breakthroughs all the time.”
“But people live with it, right?”
“There is a shortened life expectancy with the disease.”
“Shortened?” My brother finally spoke up. “How much shortened?”
“On average, from the time symptoms appear, people live between ten and thirty years when they are diagnosed as adults. But with early-onset like you’ve experienced, the lifespan is generally ten years or less. I’m sorry, Jayce. I’m so sorry.”
The three of us sat in complete silence for a long time after that. Eventually, Dr. Kohan came in and joined us. He spent another two hours going over things, although I’m not so sure either Jayce or I absorbed much.
I couldn’t get past the life expectancy—ten years was the maximum from the time symptoms first appeared. Jayce had said yesterday that he’d started to notice small issues as far back as five years ago. My brother had just turned twenty-one.
“I’ll leave you boys my card.” Dr. Kohan took a pen from his lab coat pocket and jotted down something on the back. “If you have any questions, my cell phone number is here. Call me day or night. It’s a lot to take in. I know that. You’re going to have questions once everything really sinks in. That’s what I’m here for.”
Dr. Kohan and Uncle Joe spoke for a few minutes, and then Dr. Kohan extended his hand to my brother and me. “I’ll have my office manager give you both a call to set up appointments for this week in my office to follow up.”
“Both of us?” I shook the doctor’s hand.
“Yes. I’d like you to meet with our genetic counselor before you get tested. She works in my office on Thursdays.”
“Tested?”
The two doctors looked at each other before my uncle spoke gently.
He placed a hand on my shoulder. “As Dr. Kohan explained, Huntington’s is hereditary. Fifty percent of children inherit the gene from a parent.”
I’d been so freaked out about my brother, that part of the conversation had slid right by me. I’d heard the fifty-percent statistic, but it didn’t register correctly. I guess I assumed if fifty percent got it from a parent, and there were two of us…my brother had been the unlucky one. But the actual words our uncle had said sunk in now. Fifty percent of children—meaning each child had a fifty-fifty chance.