June 2017

Facing up to Tay-Sachs: Twins with rare disease raise awareness, funds for cure

Author: Linda S. Hopkins

Living with an undiagnosed medical condition is like being stuck behind a line cars on the freeway with no open lane or alternative route…and no end in sight. For 28-year-old fraternal twins Katie and Allie Buryk, 2006 graduates of Hilton Head Preparatory School, the medical traffic jam lasted eight years, as they searched for a diagnosis and hoped for a treatment to combat their unusual symptoms, all while pursuing college degrees and their respective careers. After many tests and trips to the most renowned medical authorities, it was through genome sequencing that life’s pathway finally cleared—yet the road ahead remains uncertain.

On a cold November day in 2014, Katie got the call from her doctor’s office, asking her to come in and suggesting she bring someone with her. “I knew the news wasn’t good,” she said. Genetic testing revealed that both Katie and Allie have late-onset Tay-Sachs, a rare inherited neurodegenerative disease that causes progressive destruction of nerve cells in the brain and spinal cord.

To put rare into context, each year, about 16 cases of Tay-Sachs are diagnosed in the United States. According to the National Tay-Sachs & Allied Diseases Association (NTSAD), the Buryk twins are among fewer than 100 cases reported annually, worldwide.

Children with Tay-Sachs disease lack a vital enzyme, hexosaminidase A (Hex-A), which is needed for the body to break down a fatty waste substance found in brain cells. Without Hex-A, this substance accumulates abnormally and causes progressive damage. In infants, it is always fatal—usually between ages two and five. People with the juvenile form of Tay-Sachs typically display symptoms between the ages of two and 10 and usually pass away in their teens. Tay-Sachs that manifests in teens and adults occurs more rarely and causes less severe symptoms. Nevertheless, the disease is progressive and there is currently no known treatment or cure.

People of Ashkenazi Jewish heritage (of central and eastern European descent) are at the highest risk, and a child who inherits the gene from both parents develops Tay-Sachs disease. The Buryks had no Jewish heritage that they knew of, yet both parents unknowingly carried the gene. (Alexis has since learned through DNA testing that she has 5 percent Jewish in her heritage.) Their older daughter, Liz, does not have the disease, but she is a carrier.

How does it feel?
Late-onset symptoms typically appear during adolescence or adulthood, which was the case for the Buryk twins. Katie said she always just thought she was a bit clumsy—not the athletic type. “She had tremors that caused her to spill things,” her mother, Alexis Buryk relayed, “and the family joke was that she could never be a waitress.” But during a college visit home, both Katie and Allie noticed that they had to use their hands to get up from a chair because of weak leg muscles—a puzzling realization that led to more heightened efforts to find out what was wrong, Alexis said.

As the disease has progressed, Katie describes the symptoms and daily challenges: “I feel like I’m carrying dead weight. My legs don’t work like they’re supposed to.” (She cannot cross her leg without lifting it with her arms.) “Standing up is one of the biggest challenges. To get changed, to put on leggings or pants, I have to lift my leg up. Steps are very challenging. I can do them still, but because I fall at random, I avoid them. Every day is challenging—little things that you would never think of. If someone asks me to go have a drink, I have to think, ‘Are there stairs? Is there a railing? Am I going to fall? Who’s going to see me?’ There are so many questions I have to ask rather than just enjoying myself.”

What people don’t see is also challenging. “I look fine, but I’m not okay,” Katie said, describing her frustration when she could not board a plane because it required climbing stairs. “I’m not being lazy, I just can’t physically do it.”

Coping for Katie is a matter of reminding herself that there are worse diseases, and appreciating the life she has. At the same time, she has a new awareness: “It doesn’t matter who you are or how much money you have. I have a great life and a great family. I’ve had everything in the world I needed and everything I want, but they can’t fix me,” she said, through tears. “I’ve stopped getting upset over the petty little things in life, but it’s always on my mind, from the second I wake up until I go to sleep.”

Allie, whose symptoms are less severe, says she does not think about her condition except when it limits her, e.g. walking to her car after a long day at work. “Because I haven’t progressed as rapidly, I hope I can maintain. I try not to think about it or worry about it, and it doesn’t control my life,” she said. “I do have the leg weakness. Back in college, I would go out dancing and just randomly fall down. I was determined not to let it stop me from dancing. I can almost sense when it’s going to happen now.” Allie is also aware of changes in her speech—speaking rapidly and sometime stuttering. “People can’t always understand what I’m saying,” she said.

Making the most of today
Patients with chronic conditions often must adjust their aspirations, lifestyle, and employment. For Katie, that meant leaving behind the excitement and energy of New York City—along with the transportation challenges and her daily commute. Fortunately, she was able to keep her job as assistant planner for contemporary sportswear at Lord & Taylor and now works remotely from her home on Hilton Head Island, visiting the city as needed.

She also must accept that she cannot grow her career in the way she had hoped. “I don’t want people to think I’m that girl who doesn’t want to go to work. I would love to be out there making the commute, seeing people every day, and doing all those crazy things. But I can’t. I loved New York; it’s just not for me anymore.”

She does have friends, and with some extra planning, is able to go places and enjoy activities like shopping, movies, and dinners out. “Everyone has been very supportive. You still get me—just me with Tay-Sachs. It doesn’t define me. It’s just part of who I am,” she said.

Recognizing that her symptoms may worsen, Allie, who is a registered nurse, specializing in neurology and currently working fulltime on the stroke floor at Spartanburg Regional Medical Center, is in grad school, pursuing a master’s degree with a goal of becoming a nurse practitioner, which will potentially be less physically demanding than her current job.

“The way I see it, my deficits are not very severe. What I see at the hospital is severe. I can relate to it on a small level. It lets me know that you can’t take anything for granted,” she said. By example, she cited stroke patients who are paralyzed. “You can see their arm, but you can’t see why they can’t move it. Just like if my legs are tired and I fall, I can’t control that. It helps me understand a little bit of their frustration and what they’re going through. Everyone is going through something that you might not be able to see.”

Turning fear into action
The Buryk girls have the potential to live a normal lifespan, but not without many trials along the way. Katie says her biggest fear is what’s to come, which will likely include wheelchairs, difficulty swallowing, cognitive decline and perhaps mental illness. “I’m not giving up. I’m fighting every day, but it’s just accelerating faster than I would like it to be.”

Setting fear aside, the Buryk family refuses to sink into hopelessness. “In the beginning, it was very hard—lots of crying. But it’s out of my control, and I have to control what I can control. We just go on and live our lives the best we can every day,” Alexis said—and that means taking action.

It was Katie who came out fighting from the start, and now, the entire family is working to raise awareness and funds for Tay-Sachs research. In the two and a half years since receiving the diagnosis, they have raised over $330,000 for the National Tay-Sachs & Allied Diseases Association (NTSAD), helping to fund four grants, one of which includes a study by the National Institutes of Health, using wearable devices to collect patient data that will set benchmarks for future clinical trials.

In addition, a family friend, Peggy Furth, made a generous donation to the Mayo Clinic to fund a lysosomal storage disorder initiative, which includes Tay-Sachs and similar diseases such as Pompe, Sandhoff, Gaucher and Niemann-Pick to name a few. “We are beyond excited and filled with hope for all the possibilities for my children as well as others with these rare genetic disorders,” Alexis said.

Gene therapy could potentially cure the mutated gene for future generations. For now, Alexis is hanging her hopes on a drug that might slow the progression of the disease. “No mother wants her children to suffer,” she said. “The lesson is to get genetic testing before you have children—even if you’re not Jewish. I would have liked to have known, and we could have done it differently, [had children by using her egg and donor sperm or vice versa].”

Hope for the future
When it comes to research funds, rare diseases such as Tay-Sachs are not likely to attract large national campaigns and widespread fundraising efforts. But the Buryks want to you to know that every contribution counts.

Furth’s donation to the Mayo Clinic is exemplary. “She’s one person. She’s not related. But she is a friend who feels in her heart that she can be of help. What’s in it for her? She believes she can make a difference, and she has the money and the moxie to make it happen,” Alexis said. “This will be her legacy; she will leave a mark in this world.”

The Buryk twins will also leave a mark by going public with their story and speaking out on behalf of the children who will never have a chance to do so. “I hope to spread awareness. I would love to be able to educate others,” Allie said. “The brain really fascinates me—what we don’t know about it and what we do. I just want to be able to help patients who suffer from neurological disorders and do everything I can to treat them.”

“A hundred years from now, when I’m not here, I know my name will come up [regarding Tay-Sachs],” Katie said. Realistically, the cure will not come in her lifetime, but Katie’s wish is to “put up a big enough fuss” to create some awareness. “I feel like it’s started something. Our family has opened the door for other people. I have my life, and I have a voice to speak up.”

For more information on the NTSAD, call (617) 277-4463 or (800) 90-NTSAD, or visit ntsad.org/index.php/katie-allie buryk-research fund. Reach the Mayo Clinic’s office of gift planning at (800) 297-1185.

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