Katie & Allie Buryk Research Fund

Supports research for Late Onset Tay-Sachs and Sandhoff (LOTSS) disease.


Fundraising Goal: $1,250,000

After being diagnosed with Late Onset Tay-Sachs disease, Katie Buryk and her family established a fund to raise money for research for a cure. In under 4 years, support for the cause has raised enough funds to finance seven Research Grants. Here is their story.

It has been eight years since I began trying to find out what’s wrong.

I first noticed in college I had trouble climbing stairs. Since then my leg muscles have gotten weaker and weaker. Everyday tasks have grown harder, whether dressing myself or getting up from a sitting position. Now I can’t take the subway or wear high heels.

Sometimes I fall when I’m walking. My legs just give out. And at times, some people can’t understand what I’m saying. It is scary. I expected to be spending my 20s having fun, meeting boys and beginning a career. Instead I’ve spent my time in pursuit of an answer. What’s the matter with me? I visited multiple neurologists. I underwent tests at a series of New York hospitals. I went to the Mayo Clinic. 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).

Why we started the fund

Our bodies don’t produce enough of an enzyme which, right now, has no replacement. Infants who develop symptoms early usually die by age 2. Juveniles with symptoms pass away in their teens. So I guess we’re lucky that at my age, we are still alive. But the disease’s progression will continue. And I have to ponder a future where swallowing might prove difficult and my mobility will be via a wheelchair. I may face a cognitive decline and mental illness.

How the funds raised will be used

There isn’t much money to finance a search for a cure and there’s no celebrity who leads telethons. 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.

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. I will be giving regular posts updating my Facebook friend network about our progress. Every dollar donated will go into a family fund that is completely dedicated to research a cure. Research will cost far more and we are hoping to get the attention of the National Institutes of Health and possibly pharmaceutical companies to help with this cause.

So please help and do what you can. I know we have your love and support and we appreciate it. Whatever your contribution will go to making a difference in our lives and so many other children’s lives. It offers hope.

Where are we today?

  • A clinical trial is in progress for a drug developed by Sanofi Genzyme. It is a multinational, double-blind, placebo-controlled study. Patients are enrolled in the study in New York, Boston, Los Angeles and Bethesda, Maryland at the National Institutes of Health (NIH), and sites around the world.

  • Gene therapy is being developed for adults with Late Onset Tay-Sachs. A team at the University of Massachusetts (UMass) Chan Medical School led by Heather Gray-Edwards, DVM, PhD and Miguel Sena-Esteves, PhD has developed an AAV gene therapy and working toward a clinical trial. Your donation makes gene therapy for LOTS patients possible, bringing us closer to treatments.

  • The Buryk Fund sponsors an annual Late Onset Tay-Sachs Think Tank retreat led Dr. Steven Walkley, Albert Einstein College of Medicine, and attended by leading rare disease researchers and clinicians from around the world. The goal is to accelerate research toward effective treatments for Late Onset Tay-Sachs. Since the first Think Tank meeting in 2018, four critically important clinical trials have launched; two gene therapy studies for children with GM2 (known as Tay-Sachs and Sandhoff diseases) and a similar disease, GM1 gangliosidosis, and two small molecule drug trials for adults with LOTS. The annual meeting takes place in October. We will not give up, and we hope you’ll join us and the many families who need our help. Whatever your contribution, it will matter and make a difference in our lives and those of so many.

Ways to Give

Credit Card

Click below to make a gift with your credit card.


Click below to make a gift via PayPal.

Mail or Phone Donations

(617) 277-4463

Checks payable to NTSAD.

Mailing Address:
2001 Beacon Street
Suite 204
Boston, MA 02135.

NTSAD Research Initiative Grants supported by the Katie & Allie Buryk Research Fund

Thank you from the bottom of our hearts for your support!

As of January 31, 2024, the fund has recieved 3,863 donations from 2,377 generous donors!

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Samantha Prusin

Stuart Stoller

Stuart Freedman

Sandra Michaelson

Suzanne & Robert Schaps

Stephanie Gelber

Stephanie Sharron

Samuel Chodosh

Stacey Block

Stanley Runyon

Susan Tarrence

Stephanie Shnay

Steven Walkley

Steven Rappaport

Stephen Hamburg

Steven Mazza

Steven Freshman

Steven Shalit

Steven Shapiro

Stephen Shobin

David Strome

Sara Morgan

Susan Brancati

Sue and Don James

Susan Loeser

Barry Sufrin

Margaret Heimbold

Sonia Hudes

Susan Silverman

Susan Staub

Susan Westlake

Susan Ferber

Susan Krimer

Susan Green

Susan and Mark Spiro

Susan and Joel Landau

Susan Weiner

Susy Korb

David Sutton

Suzanne Kolen

Stephanie Gasparro

Sydney Liss

Sharen Moghavem

Shari Teitelbaum

Tara House Jaffe

Denine Taylor

Tom Bodkin

Tom DiCerbo

Tom McDowell

Lord & Taylor

Terri Friedman

Terry Oster

Tressa Seetin

SourceIndia, Inc.

Todd Haskell

E Baldwin

Cindy Charney

Renu Lonial

Theresa McCann

Seth Rogin

Thomas Demarzo

Elizabeth and Thomas Mela

Megan Harris

Timothy Lawrence

Christina Kydoniefs

Tina Vukov

Tom Liotta

Thomas Carley

Janet Liotta

Tracy Fudula

Debora and Abe New

Toby Chod

Tom Helling

Tom & Barbara Harper

Anthony Giannini

Gloria Shapiro

Toby Fox

Tracy Quitasol

Trish Hall

Trudy Burger

Edward and Jean Simon

William Usnik

Elaine and Martin Pasternack

M Updyke

Linda and Frank Urso

Carlos Osmon

Vanessa Willett

Victoria Heslop

Vicki Rosenthal

Victoria Miller

Vinay Alessio

Virginia and Michael French

Vita Annitto

Vivian Mota

Victor Parada

Vincent Sabio

Valerie Salembier

Valerie Weitzner

Waleska Williams

Brie Walsh

Alex and Nancy Ward

Warren Bimblick

Wendy Baker

William Buryk

Wendy Landow

William Abernathy

Diane Wisniewski

Brian Evans

Willy Cepeda

Lester Krasnogor

Ellen Winetsky

Susan Winter

William DeMarzo

Debbie and Bill Kahn

Jessica Wolff

William Pollak

Andrew Wright

Wylie Kain

Anne and Richard Yagoda

Yehuda Friedman

Yasmin Namini

Yolanda Casais

Yolanda and David Marshall Reed

Antony Young

Yvonne and Barry Cohen

Barbara Ribakove

Elayna Zucker

Sarita and Stanley Fish

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