Funding Late Onset Tay-Sachs Research
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).
There is no cure.
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.
Tay-Sachs is difficult to diagnose and seldom seen.
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.
Thank you for helping. Katie
Please help find a cure
Pendant to Fund Research
I'm very lucky to have Sam Levine as a friend for 15 years. She is a jewelry designer and has designed a necklace to support Tay - Sachs, available in 20 colors. 20% of the purchase price will go towards the Katie & Allie Buryk Research Fund.
Whether it's a gift or just for yourself, you will be helping to fund research to cure this disease.
Please check her website Auburn Jewelry she has beautiful pieces. .
Allie and I gave thanks yesterday and we do so every day for generous and caring people who have donated and continue to support our cause to find a cure. Just 2 years ago we received our diagnosis and already we have raised over $275k and funded four grants. There is so much more to do. Thank you to all our friends, family and donors who are helping us and giving us hope.
And to our dear friend, Peggy Furth, who made a significant donation to the Mayo Clinic. Her gift came with strings attached: help to find a cure for lysosomal storage disorders one of which is Tay Sachs. Two months ago the Mayo Clinic launched the lysosomal storage disease initiative and will be working with NTSAD to find a cure.
New York Times Magazine article, Why Were These Patients' Legs Week, presents the symptoms reported by both Katie and Allie, the effort to reconcile diagnoses, and an explanaition of the answer being a missing protein. "Tay-Sachs seemed very unlikely, because the patients’ parents did not belong to any of the ethnic groups — Ashkenazi Jews, French Canadians, Cajuns — that typically carry the gene." Read full article here: http://www.nytimes.com/interactive/2015/05/24/magazine/24mag-diagnosis.html?_r=0#/#6
On May 7, 2015 the New York Times Well blog, Think Like a Doctor, presents the symptoms reported by twin sisters, Katie and Allie Buryk. Readers are asked to figure out the diagnosis and comment. The patient history, neurological notes and blood test results are offered as clues. Read the blog entry here: http://well.blogs.nytimes.com/2015/05/07/think-like-a-doctor-taking-a-stand/?ref=health&_r=0
Almost 300 responses were made. The New York Times posted on May 8 the diagnosis being Late Onset Tay Sachs and describes how the diagnosis was made. Less than a handful of the reader's comments mentioned Late Onset Tay Sachs. Read the blog diagnosis entry here: http://well.blogs.nytimes.com//2015/05/08/think-like-a-doctor-taking-a-stand-solved/
February 28 is Rare Disease Day and I am proud to say we have helped to raise awareness of late onset Tay-Sachs and have raised $120k in 2 plus months! I continue to be amazed at the generosity of people and how many people have been reaching out to me to talk. This is helping me stay optimistic. Where there is activity, there will be a change and an outcome. We so need the cure for me, my sister and for all the other children. I am not going to stop fighting and I will not give up. It was hard for us to go public but everyone has been so kind understanding. When people hear what I have, they don't know what to say! This page says a lot about how many people are supporting us and care about helping others like us. I take this very personally since I have it and my twin has it. Please help me to share and get the word out there ! All the best xoxo Katie
Read my mother's second Huffington Post blog here.
Katie and Allie's mother, Alexis, wrote a blog for the Huffington Post! Read her post here.
The Island Packet, based in South Carolina, featured an article about Katie and Allie's story. Read the article in its entirety here.
I know I have sent or I'm about to send thank you notes to everyone who has contributed. I really don't know how to thank each and every one of you. When we started this journey, we would have never anticipated the outpouring from so many people. We are almost at my goal but we are going to keep going. Research is costly and we remain hopeful that there is a cure. Thank you all!!! Please share with friends and family so they too can help this cause.
The fact we are just over $85,000 gives me and Allie so much hope for 2015. I know that NTSAD is preparing a request for proposals so we can decide where to spend this money for a cure.
I am so touched and so appreciate all the donations coming in for Tay-Sachs. I am so moved by the overwhelming support. We have raised over $44,000 in one week. Thank you to all my friends and family.
I just want to thank you all from the bottom of my heart! 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. Rare diseases are difficult and a lot of people are unaware of the Tay-Sachs disease. By you sharing the link, we are building awareness and hopefully will find a cure.
To help, please donate to National Tay-Sachs & Allied Diseases Association (NTSAD)
View list of Donors to the Katie & Allie Buryk Research Fund