Memoir Sheds Light on Tay-Sachs

Editor’s note: Pending an FDA decision, 23andMe no longer offers new customers access to health reports referred to in this post. Customers who received their health information prior to November 22, 2013 will still be able to see their health reports, but those who purchased after that time will only have access to ancestry information as well as access to their uninterpreted raw data. These new customers may receive health reports in the future dependent on FDA marketing authorization.

by Amick Boone

In the memoir “The Still Point of the Turning World,” author Emily Rapp recounts the nine agonizing months following her son Ronan’s diagnosis of Tay-Sachs, a rare genetic disease characterized by progressive nerve cell degeneration in the brain.

Tay-Sachs disease — there are two forms infantile and late-onset — is triggered by mutations in the HEXA gene that cause a loss of enzyme activity that leads to the accumulation of a nerve cell-destroying fatty substance in the brain. In its most severe form, this process slowly robs children of movement, vision, taste, touch and hearing, “resulting in a gradual disconnect,” writes Rapp, “from the faculties that make life livable.” There is no cure for Tay-Sachs, and the devastating severe form of the disease eventually leads to the death of the child between the ages of two and four.

Despite having testing negative for the most common HEXA mutation before giving birth, Rapp’s DNA contained a rare mutation for which the standard prenatal test didn’t screen. After Ronan’s diagnosis, Rapp saw a genetic counselor at Cedars-Sinai in Los Angeles who told her the odds were astronomical, but that due to an unknown thread of Moroccan ancestry, she was indeed a carrier.  Combined with her husband’s more common HEXA mutation, Ronan had the misfortune of ending up with two mutated copies of HEXA.

About Tay-Sachs

Tay-Sachs disease is inherited in a recessive manner, meaning only a child who receives two mutated copies of the HEXA gene (one from each parent) will have the disease. 23andMe reports data for the four most common disease-causing mutations, as well as two non-disease causing variations that can affect the results of Tay-Sachs screening tests. This means you may still have a HEXA mutation or be affected by Tay-Sachs disease even if your data indicate that you are a non-carrier. If you are concerned about Tay-Sachs disease, consult a health professional.

A writer whose own genetic disability resulted in the amputation of her foot, Rapp is familiar with the rage and helplessness that come from trying to reason with chance.  Rapp tirelessly searched to find an answer to the question, “Why me?” She repeatedly got no acceptable answer. Tay-Sachs came into her family’s life without warning, and it slowly took away her son.

When Ronan was first diagnosed with Tay-Sachs at nine months old, Rapp and her husband began the wrenching process of deciding which measures to use to maintain his life.  With doctors and hospice workers, they asked questions such as, “What will this lead to?” and, “What kind of a life is he living?”

Making these decisions for her child was beyond unbearable, and the only comfort Rapp found was from a Tay-Sachs support group she calls the “Dragon Moms.” With the Dragon Moms, Rapp discussed the latest Tay-Sachs research and navigated her child’s care plan with people who, unlike some of Rapp’s friends and doctors, didn’t struggle to sympathize, because they don’t have to.

“These mighty indefatigable Dragon Moms gave me all the grim details, compassionately but matter-of-factly, and without hesitation or pity,” writes Rapp.  This kind of support ended up being exactly what Rapp needed, and she repeatedly called on the Dragon Moms throughout Ronan’s illness.  They were a critical lifeline to her sanity and survival, that, and the writing.

Rapp tirelessly read books on grief, researched religion, meditated, learned Reiki, did yoga and visited holy sites to find solace. But it was the writing that became her “still point of the turning world.” She wrote to get away from the chaos of impermanence, loss and fear. “Writing about the experience from the inside creates something new, namely, a safe or safe-ish place to rest,” Rapp notes. “Writing would not save Ronan. But, I thought, it might save me.”

For Rapp, rendering her loss was a way of honoring Ronan’s life.  Showing how valuable and full of love Ronan’s short existence could be helped her be present and cherish every experience with her son, so she could care for him in the right way in the short time they had together before he slipped away.

Rapp’s memoir, in addition to honoring Ronan, sheds light on Tay-Sachs, informing readers about the importance of awareness and screening for the disease.  To learn more about family services, research, education and how you can help in the fight against Tay-Sachs, visit the National Tay-Sachs and Allied Diseases website.

In bringing attention to her experience with Tay-Sachs, Rapp also gives voice to the plight of families dealing with other rare diseases. Although individually the chances of contracting such diseases are slim, collectively one in ten, about 30 million Americans, are dealing with some kind of rare disease.






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