Dear Eager Tay-Sachs Mommy,
Figuring out the possible treatments out there is like a maze. Because there are no proven treatments, doctors can't hand out a list of experimental treatments various kids have been on. This is good and bad. It's good because people have tried a lot of bizarre things that can send confused families down the wrong path. It's bad because each family ends up reinventing the wheel as they research what's out there.
We've only tried a few "hocus pocus" magical treatments. Early on, we used a few antioxidants that were recommended. It think they were CoQ10 (Coenzyme Q10), SOD (Superoxide Dismutatase), and one other I cannot recall (maybe NAC - N-Acetyl Cysteine). We had to get them compounded at a special pharmacy and it was expensive because we had to pay out of pocket. We tried these for 6 months and stopped.
The second hocus-pocus treatment we have used - and still use - is Ambrotose. This is a glyconutrient powder that we give once a day. We started it because another child was on it and we continued it b/c we met a man with some bizarre, cancer-like illness who swore it helped him. We still give it because it's definitely not hurting her, it might be helping in some way, and it's not crazy expensive (relatively speaking) - it's $150 for a small tub, but the tub lasts about 6 months for us. We buy it on line through the company, Mannetech.
Zavesca may be considered a hocus-pocus treatment by some, but to us it's the only real treatment for Tay-Sachs that's available. It's obviously not a "cure", but its mechanism of action definitely makes it a "treatment". When it first came out, many families hoped to give their kids Zavesca to keep them alive, so that they could try gene therapy when it was discovered.
As far as I know, there is no need for any specific Tay-Sachs mutation in order to give this medication a try; if it works, it should work for any disease caused by the inability to break down the fatty waste products in the brain. We are very happy with it though we wish we could have started it sooner. Rachaeli was 2-1/2 when she started Zavesca, and for infantile Tay-Sachs, the kids have completely regressed by that age.
Zavesca was not expected to work in
Infantile Tay-Sachs b/c these kids have so little Hex A enzyme that the reduction in "substrate", or the fatty waste products, would not theoretically do much to help them. These kids need almost complete elimination of the fatty waste products -or- they need a way to make the Hex A Enzyme. Zavesca only works to decrease the fatty wastes; the patients need enough Hex-A enzyme to break down the rest. Kids with
Juvenile Tay-Sachs should see a better response since they have more Hex A. If the Zavesca can reduce the amount of "substrate" or fatty wastes substantially, then perhaps a smaller amount of Hex A enzyme that these kids have would be enough to take care of the remaining wastes.
Below I included the letters I wrote to BC/BS in 2008 and 2009 to encourage them to approve payments for this very expensive medication. Please feel free to give a copy of this email to your doctor(s). It is highly likely they have not used Zavesca unless they treat a couple of people with Gaucher's disease. Rachaeli goes by Eliana in medical settings (she's actually Eliana Rachael) so don't let the names confuse you in the letters.
Another thing you can bring to your doctor is a copy of the downloaded application/prescription for Zavesca. They have all the required paperwork on their website.
December 8, 2009 Letter to BC/BS for continued approval of Zavesca
______________________________
Patient: Eliana Fier
Diagnosis: Infantile Tay-Sachs disease
Eliana Fier is a 7-year-old girl diagnosed with Tay-Sachs disease in December 2003. In Tay-Sachs disease, patients have inherited mutations of the Tay-Sachs gene from both parents, resulting in the absence or near absence of the enzyme, hexosaminidase A, or Hex A. Without Hex A, individuals are unable to breakdown waste products in brain cells, resulting in bloated and distorted brain cells, and eventually brain cell death. The clinical manifestations of progressive neurodegeneration include developmental regression, loss of muscle tone resulting in loss of speech, ability to swallow, and ability to produce purposeful movements, blindness, seizures, respiratory compromise, gastrointestinal motility problems, feeding problems, musculoskeletal contractures, and the need for complete care.
Tay-Sachs is an extremely rare genetic disease. It has become even more rare since the high-risk Ashkenazi Jewish populations have aggressively participated in prenatal genetic screening. Eliana's father is an Ashkenazi Jew. Her mother is of Filipino and Dutch descent. In 1994, before the birth of Eliana's oldest brother, Eliana's father was tested for Tay-Sachs disease. The result came back as "non-carrier" for this disease. Nine years later, he learned that this blood test result was inaccurate; the lab's reference range for positive Tay-Sachs carriers was much too narrow.
Eliana's parents did all that they knew they could to prevent having a child with this terrible disease. If there were a Wrongful Life Statute in their state, Eliana's parents would have pursued a law suit years ago in order to fight for money to pay for her medical expenses, which would of course include the medication, Zavesca. But this was not an option.
Eliana was started on Zavesca treatment 4 years ago, in August 2005. Zavesca is considered a “substrate inhibitor” and results in decreasing the amount of waste products that the brain cells needs to break down, thereby decreasing the dependence on the Hex A enzyme. Zavesca is an FDA approved medication for Gaucher’s disease, which is also caused by a missing enzyme. It functions in the same way for these patients.
Zavesca is the only treatment available for Tay-Sachs disease. Enzyme replacement is not available yet. Cord blood stem cell transplantation is being tried on patients strong enough to survive immunosuppression and the host of medical sequellae resulting from immunosuppression and transplantation. Gene therapy is still in the experimental stages.
It has been difficult to study Zavesca in Infantile Tay-Sachs disease because the disease is extremely rare (the carrier rate in the general population is 1 in 250, and both parents must be carriers), many children are unable to tolerate the gastrointestinal side effects of the medication, and many parents just refuse to give it try.
Eliana is one of the patients who has been able to tolerate the GI side effects of this medication, and she has been taking it steadily for 4 years and 3 months. The results may not be obvious to the layperson, but they are to parents of Tay-Sachs children. One obvious result is Eliana reaching her 7th birthday, which is a milestone most kids with this disease never come close to achieving. Another is that she is growing and appears well nourished and, for lack of a better word, healthy. She has also been medically stable since she started Zavesca. She has not been hospitalized since November 2004 and she has not had any serious aspiration pneumonias. She has had common childhood illnesses, such as ear infections, sinus infections, and strep throat, but nothing more serious. Her medication and treatment regimens have changed only slightly over the years, often to compensate for growth. Unlike most kids with Tay-Sachs disease, Eliana has a notably normal sized head (most have enlarged heads). She is also relatively alert and responsive for a Tay-Sachs child. In addition, Eliana has been responding vocally for the past year and a half, albeit only with grunts, deep sighs, and heavy breathing, but the volume, frequency, and appropriateness of timing of these vocalizations has been remarkable and impressive. This has been an exciting clinical change.
In summary, Zavesca is the only treatment available for Tay-Sachs disease at this time. Eliana Fier has been taking it for over four years. She has tolerated and responded to Zavesca. Continuing treatment with Zavesca is clinically indicated.
Thank you,
Doctor XYZ
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