![]() "When we realized it wasn't going to cure her, we were afraid that it would be a long devastating life for her," Feldborg said. The couple's biggest fear was that the therapy, intended to correct the genetic mistake that was poisoning Alissa's brain, would extend her life but not substantially improve her vegetative state. Her ability to swallow and cough also improved, which worried her parents. "There were a lot of positive things after this treatment," Rokina said. The early days were promising. For about six months, her deterioration slowed. So, at the end of January 2021, when Alissa wasn't yet 14 months old, doctors gave her two doses of gene therapy, one infused into her spinal cord and one directly into her brain. Still, where there's action, there's hope and the couple was grateful to be able to grab onto any sliver. As the weeks and then months ticked by, waiting for the Food and Drug Administration to approve the treatment, their expectations dimmed. The researchers were clear Alissa might not benefit from treatment – her disease might already be too advanced – the dosage, based on studies in sheep, might be too low. More from this series: From debilitating illness to a 'normal' life, new gene therapy treatment promises to transform rare disease The promise of clinical trialsįeldborg and Rokina, who live in Copenhagen, Denmark, had read about the UMass trial online and were thrilled when Alissa passed all the requirements to be included. Now, instead of certain death, she faces an uncertain future. See previously: An experimental gene therapy was little Alissa’s only hope. "It's hard to say, but it was for the best for her in the end." "We are heartbroken, but also we realize within ourselves that the battle was lost long ago, not now," Alissa's father said in a video conversation a week after her funeral. The trial, which USA TODAY wrote about in 2021 as part of a series on rare diseases, offered them a different vision of the future, even though the result wasn't what they dreamt of. The child rapidly deteriorates and usually dies by age 3. Sandhoff, an ultra-rare genetic disease, strikes babies who previously seemed healthy, progressively destroying nerve cells in the brain and spinal cord. Ever since her parents, Thomas Feldborg and Daria Rokina, received their daughter's diagnosis of Sandhoff disease when she was 8 months old, they were told to prepare for her death. Unfortunately, clinical trials for unproven therapies don't always end well, especially for those who go first.Ī trial at the UMass Chan Medical School at the University of Massachusetts offered the little girl and her desperate parents the possibility of reversing her fatal diagnosis.īut on Easter Monday, 28 months after her gene therapy treatment, Alissa, age 3, died.Īt one level, it was to be expected. ![]() ![]() New medical treatments, such as gene therapies, have the potential to save lives or transform them completely, to provide hope where there is none and to justify years of scientific research.
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