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From the dock, we watched the sunlight dance across the surface of the lake – a ballet performance for a small but captive audience of one person in the quiet cove. Although there were still a few hours before lunch, the day was already hot. We were both wearing bathing suits, but my sister, Taylor, couldn’t go in the water.

For most of 2008, including that June day on Smith Mountain Lake in Virginia, Taylor took CellCept (mycophenolate mofetil), a drug still commonly prescribed to patients who received kidney, heart, or liver transplants. .

But Taylor had not received a solid organ transplant. Instead, on a much colder morning at an Oregon hospital six months earlier, she had become the sixth and final patient in biopharmaceutical company StemCells’ landmark Phase 1 clinical trial for the childhood or childhood disease. Late Batten. For a year after the stem cell transplant, the children received CellCept to suppress their immune systems and prevent their bodies from rejecting donor cells.

Sometimes, especially during cold and flu season, immunosuppression scared us more than potential problems with the stem cells it was supposed to protect. Taylor returned to school seven weeks after the operation, but if she contracted an otherwise minor illness, she could suffer serious complications. And swimming in a lake, even the surprisingly clear water at the base of Smith Mountain, was absolutely forbidden.

Although the transplant did not save my sister (she died over a decade later in 2018), the donor cells and the powerful course of immunosuppression that followed seemed like little potatoes more later, when Batten’s disease really set in. During her difficult final year, Taylor was medically fragile, with few defenses against the ailments her family and friends could bear. I will not forget how my parents feared that intractable seizures would force Taylor into hospital at the height of flu season.

Such is the life of so many patients and families struggling with Batten disease and other rare diseases. Now, with the coronavirus sweeping the globe, entire nations are experiencing extreme versions of the social distancing, self-quarantine measures and fear of infection that many rare disease families know all too well.

A famous example is Eliza O’Neill, who became the face of Sanfilippo Syndrome, and her family’s self-imposed 726-day isolation. The flip side of my family’s stem cell story, the O’Neills self-quarantined to protect Eliza from contracting a harmless virus (AAV9, a vector used to deliver gene therapy), which could have exclude from a future clinical trial.

They ordered supplies to be delivered and relied on friends and family to help with shopping. Eliza’s father worked remotely, while her mother stopped working. The children used e-learning tools to keep track of their school work. The strategy worked: in 2016, Eliza became the first American patient to receive the experimental gene therapy treatment.

Whether you call it social distancing, self-quarantine or personal hell, these measures are essential today to help stop the spread of COVID-19 and protect the most vulnerable among us – from elderly grandparents to young children affected. serious illnesses. For my part, I run most of the time alone, telecommuting (our office is closed) and avoiding public places as much as possible. I don’t stock toilet paper, but I buy supplies my family needs and clean surfaces even more often than usual.

Once upon a time, my sister had to accept that she couldn’t swim in the lake with her siblings and cousins, just as Eliza O’Neill then failed to create her own memories. In each case, their sacrifice opened the door to potential treatment and hope for the future. And now our global commitment to do the right thing is the best defense we ALL have against a new enemy.


To note: Batten Disease News is strictly a disease news and information site. It does not provide medical advice, diagnosis or treatment. This content is not intended to replace professional medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health care provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay seeking it because of anything you read on this website. The opinions expressed in this column are not those of Batten Disease News or its parent company, BioNews Services, and are intended to spark discussion about Batten disease issues.