Project Shui for Tay-Sachs

Treatment or Cure?

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Canavan Pioneers, Gene Therapy, Jacob Sheep Sensation, Stem Cell Transplants, Substrate Inhibitors, Enzyme Replacement, Chaperone Therapy, In-Home Medical Care

*Video or Pictures of Tay-Sachs

Project Shui Home Page

Welcome From Shui
   What is the Cure Tay-Sachs Foundation?
   How Close are we to a Cure?
   *Rachaeli's Friends
   Sign up for Updates
*Bar Mitzvah Video Invite
What is Project Shui?

Thank You From Shui
   Internet Ads&Marketing

What is Shavuot?
Shavuot & Shui's Sister

What is Tay-Sachs?
Tay-Sachs Diagnosis:

      Part I

      Part II

   Genetics Made Fun
      *Lysosomes The Movie
      *Genetics 101 Video
Narrated by Alec Baldwin
   Genetics 101 Article

*Inspirational Videos

*Beautiful Faces of Lysosomal
*Tay-Sachs Talk
   *Connor Hopf Cure Tay-Sachs
   *2010 Faces of Tay-Sachs
*My Soul Sister-Molly Grace
*Our Star Dakota
   *Rachaeli's Song of Love
   *Elise-A Child Living with Tay-Sachs
   *Last Laugh
   *Meet Gavin

Tay-Sachs in the Media
Glee Sectionals
   *Grey's Anatomy Sweet Surrender
   *Law & Order SVU MERCY
21 Below Documentary
Legal & Financial Issues

   What is Wrongful Life?
   Right to Live in the United Kingdom
   How to Pay Medical Bills?
   Social Security Disability
   CHIPRA-Insurance for Kids
   Medicaid Waiver Programs
   Katie Beckett Medicaid
   Who is Katie Beckett?
Why Do We Need The
Katie Beckett Waiver?
Eligibility for Katie Beckett
   Katie Beckett in Georgia
Katie Beckett's Going Home
   (from People Magazine 1981)

Treatment or Cure
Canavan Pioneers
   *Gene Therapy
   Jacob Sheep Sensation
   Article in Forward-Jacob Sheep
   *Stem Cell Transplants
   Enzyme Replacement
   Substrate Inhibitors
   Should I Try Zavesca?
   Letter for Insurance 
      Approval for Zavesca
   Chaperone Therapy

In-Home Medical Care
Home Health Care
   Coping Strategies
Coping with Humor w/ Shui's Dad
Rachaeli's Story
Shocked by Tay-Sachs Article
The Project Shui Family
Mommy's Online Journal
   Abba's Online Journal
   Shui's Fun Pages


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There is no treatment or cure for Tay-Sachs disease though there are many being studied. This disease is always fatal.  When a child is diagnosed with Tay-Sachs or similar fatal lysosomal storage diseases, the family must decide if they will provide palliative care and let nature take its course, or if they will intervene medically.  Though this seems like a topic of much debate, it is often the opposite;  families usually have very strong feelings one way or the other.  At the annual NTSAD conferences, it is the rule, not the exception, that each family respects the decisions of the other families.  Everyone, however, is excited about the potential cures that we hope the near future will bring.

Stem Cell transplantation with umbilical cord blood has been used in a number of kids with these disorders. The difficulty of this procedure is surviving the necessary immunosuppression prior to the transplant and the possible graft-vs-host disease after the transplant.  It also requires family to move to the city the hospital is in for 6 to 12 months, as very few hospitals do this procedure.  Many children die during the process, but if they survive, there is hope that they will live for many more years.  It is a painful dilemma for the family considering this option.  Rachaeli was 20-months-old when she was evaluated by the stem cell team at Duke University.  At her stage in the illness, it was predicted that she would have a 10-20 percent chance of just surviving the transplant process.  Younger children with Infantile Tay-Sachs who have not regressed as much, and children with the Juvenile form of Tay-Sachs and Sandhoff disease,  have a better chance of surviving.  What survival means is still to be seen.  The children most definitely make the missing enzyme, Hex A in the case of Tay-Sachs disease.  Whether the enzyme crosses the blood-brain barrier to get to the affected cells is still unclear.  The prospect of "improvement", rather than maintenance or stability, after the transplant are also questionable.  The expectation is a halting of the neurological regression.  The hope is a treatment on the horizon that will lead to improvement or progression.

Gene therapy offers the greatest hope for a cure and it is the basket in which most of our family's eggs are being placed...  to be continued.

This page is currently under construction.   Please check back often for Shui's mother's perspective on the treatment options for this disease.

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