Matt Goldstein and his wife, Myra Sack, lost their first child, Havi, to the fatal genetic disease, Tay Sachs, in 2021. They used pre-implantation genetic testing and in vitro fertilization to reduce the risk that their now 18-month old son, Ezra, had the same disease. Last week’s Alabama Supreme Court’s ruling that embryos should be considered children would likely block parents like them from taking such precautions.
The Alabama ruling states that embryos are children, with the same rights as live children after birth. This may mean that frozen embryos could not be discarded, even if those embryos have fatal genetic diseases or the parents do not want, or cannot support, any more children. This ruling has led some Alabama fertility clinics to temporarily shut down until the legal repercussions for families, clinicians, and fertility centers are better understood.
Goldstein and Sack, who live in Boston, were overjoyed when their beautiful first child was born in September 2018 and reveled in being new parents. When Havi was about 12 months old her parents noticed she wasn’t progressing as expected. They took her to see a neurologist, enrolled her in physical and occupational therapy, and yet Havi began to lose motor skills – her once perfect posture regressed to slouching while in a sitting position. They eventually saw a neuro-geneticist who noticed an exaggerated startle reflex in Havi. This finding led 15-month old Havi to be tested and diagnosed with Tay Sachs disease, a fatal genetic condition with no treatment, no cure, and regression until death by 3 to 5 years of age. Tay Sachs is hereditary, caused by inheriting two copies of a mutation – one from each parent – in the gene for Tay Sachs disease. Each of Goldstein and Sack’s future pregnancies would have a 25% chance of having Tay Sachs disease. Sack was 11 weeks pregnant with their second child when they received Havi’s diagnosis. Three long weeks later, after having chorionic villus sampling testing, they learned their second pregnancy carried just one copy of the mutation for Tay Sachs and would therefore be a carrier for, but would not develop, Tay Sachs. Meanwhile, Havi’s disease progressed and she died at age 2 1/2, in January 2021.
The couple wanted to have a third child who did not have Tay Sachs disease. They underwent the invasive, expensive, sometimes painful, and emotionally and time-consuming process of having Myra’s eggs removed by needle, fertilized with Matt’s sperm, creating embryos in a test tube. “Each embryo, a cluster of 200-300 cells called a blastocyst, is roughly the size of the tip of a pin,” explains David Schmidt, MD, Lead Physician, Center for Advanced Reproductive Services, PC.
Goldstein and Sack’s embryos were tested for Tay Sachs disease, and 2 embryos were found to have neither the disease nor carry a single mutation. Myra had one of these embryos implanted in her uterus and became pregnant with Ezra in 2021. Goldstein, who has both an MD and a PhD, felt so strongly about the gift of IVF preimplantation genetic testing that he became the CEO of JScreen, an Emory School of Medicine non-profit that offers affordable reproductive and cancer genetic testing.
For families at risk for diseases such as Tay Sachs, if the Alabama ruling eliminates the option of IVF preimplantation genetic testing, their next best choice may be to get pregnant by chance, have genetic testing during the pregnancy, and leave the state of Alabama to terminate the pregnancy if the fetus is found to carry a lethal condition. Ironically, this ruling could result in abortions that otherwise would not occur.
This is not the first apparently unintended consequence of the overturning Roe v. Wade, that also makes it impossible for some non-pregnant women to receive the medications they needed to treat serious medical conditions such as Crohn’s, lupus, and rheumatoid arthritis. Alabama state lawmakers in their House and Senate, in a bipartisan effort, are now planning to draft “clarifying” legislation that would “protect” IVF. It will take months or years to determine what other ripples this ruling will have on women, reproductive rights, and legislation in other states.
