Looking back now, Katie Buryk realizes that something wasn’t right with her nearly 15 years ago.
“When I was 11 or 12 I had this tremor in my hand, but everybody thought I was just anxious or nervous,” she said. “When I turned 16 or 17 I saw a neurologist, but he just said I had a slight tremor. My aunt has that, so we thought it was a genetic tremor.”
Katie, now 26, and her fraternal twin sister, Allie, attended Lewisboro Elementary, John Jay Middle School and John Jay High School during the eight years they lived in Waccabuc. In the middle of her junior year, Katie’s family moved to Hilton Head, S.C. It wasn’t until she was in college two years later that Katie’s symptoms became much more pronounced — she began having trouble climbing stairs.
“I knew around 18 something was wrong,” Katie said, “but even before 18, I didn’t do high school sports because I thought I wasn’t good enough.”
It wasn’t until this past year that Katie finally found out what the problem was — a rare condition called late onset Tay-Sachs disease.
“It is very rare,” she said. “Not many people have it, or know about it.”
Late onset Tay-Sachs is a disease with no celebrity endorsements, no bucket challenge and no cure.
What is Tay-Sachs?
According to the Mayo Clinic, “Tay-Sachs disease is a rare disorder passed from parents to child. In the most common form, a baby about six months old will begin to show symptoms. Tay-Sachs disease results when an enzyme that helps break down fatty substances is absent. These fatty substances build up to toxic levels in the child’s brain and affect the nerve cells. As the disease progresses, the child’s body loses function, leading to blindness, deafness, paralysis and death.”
“However,” said Katie, “if you get it when you’re older, the outcome is less certain.”
What is certain is that most people who’ve heard of it associate Tay-Sachs with Jewish ancestry. The Mayo Clinic says, “Tay-Sachs disease occurs most frequently among people whose ancestors come from Eastern and Central European Jewish communities (Ashkenazi Jews), from certain French Canadian communities in Quebec, the Old Order Amish community in Pennsylvania and from the Cajun community of Louisiana. A child who inherits the gene from both parents develops Tay-Sachs disease.”
Neither of her parents has any Jewish heritage that they know of, said Katie.
“My father’s family is originally from Austria and England, but they have been in the New Orleans area since the 1700s — so he might have Cajun ancestry as well. But my mother is full Italian,” she said.
So it was surprising when genetic testing confirmed that both parents carried the recessive gene. The testing was done after Katie spent several years pursuing an explanation for her muscle weakness, including visits to multiple neurologists, the Mayo Clinic, New York University Hospital for Special Surgery, and Columbia Presbyterian.
As she writes on a Web page she has set up, “Finally, a good friend of my mom’s suggested genome sequencing for my entire family. We arranged that and heartbreakingly, now we finally know. I have a rare disorder called late onset Tay-Sachs disease. So does my twin sister. My Mom and Dad are carriers and never suspected they had the recessive gene. We’re among the fewer than 100 cases reported worldwide, according to the National Tay-Sachs & Allied Diseases Association (NTSAD).”
A call to action
Armed at last with knowledge about what she was facing, Katie decided to take action.
“I want to do something now while I can,” she said.
She set up a fund-raising page on the NTSAD website and began contacting everyone she could think of.
As she explains online, “I have decided to go public and try to raise money, awareness and mount a search for a cure. Sure it’s for me and Allie, but it is also for infants and kids who aren’t as lucky as we are. And it’s for the families who have to embark on this difficult, sad and baffling journey.”
One of her emails went to Malerie Simon, her former John Jay guidance counselor, who forwarded it to others at the school.
“I’m still in touch with many of my friends, but I haven’t been there in a couple of years,” said Katie, who now lives and works in New York City. “I work in financial planning for a retailer, so I’m sitting most of the day,” she said. “It’s definitely gotten worse, slowly over the past couple of years; simple tasks like getting dressed have become harder. My twin sister lives in South Carolina, where she works as a nurse, and her progression has been a lot slower than mine. She can still go up stairs, wear heels, partially run; she either has more of the enzyme or it’s affecting her differently. She’s more where I was when I was 18.”
Overwhelmed by support
Setting up the Web fund was something Katie did with some trepidation, as it meant going public with her condition, yet she has been genuinely touched by the response. In a post on Dec. 16, soon after starting the page, she wrote, “I was scared to put my life out there yet everyone has been so warm, generous and caring. I didn’t realize how many people love and care about my sister and me. I am truly blessed to have all of you in my life supporting me and helping me raise money to find a cure.”
Still, Katie realizes she faces a daunting challenge, both personally and in her fund-raising effort. As she wrote on the page, “It seems that pharmaceutical companies don’t want to invest in a drug for a cure. Maybe there aren’t enough of us to make it a profitable investment. I guess that means it’s up to me.”
“In the past six weeks I’ve raised like $100,000 — that’s really like a drop in the bucket,” she told The Ledger. But seeing so much support online and through email has given her hope, she said.
Visit ntsad.org/index.php/allie-katie-buryk-research-fund for the latest updates.