A mom whose son died of a rare disease finds the first treatment to help others who have the same condition. The medical doctor mom worked hard through the years and finally had the US Food and Drug Administration approve a drug to extend the life span of patients suffering from progeria.
Did not know anything about the disease
In 1998, Dr. Leslie Gordon's two-year-old son, Sam, got diagnosed with progeria. At that time, she did not know anything about it even as a medical doctor. During her stay in medical school, she had never encountered the syndrome.
Dr. Gordon, who had a Ph.D., told "TODAY Parents" that her toddler had an ultra-rare disease. She explained that they did everything they could to help their son find experts and treatments for his disease. However, to their dismay, the couple did not find anything about it.
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Started a foundation to help find a cure
Dr. Gordon's husband, Dr. Scott Berns, worked with her sister, Ashley Gordon, to start a foundation to find a cure for the rare disease. The duo started the Progeria Research Foundation to help them find a treatment for the confounding condition.
Children who have progeria have a signature trait: they age prematurely and rapidly. Most of them die as teenagers. In 2014, Sam died when he was 17 years old. Gordon and her team continued working, and finally, their hard work is paying off.
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FDA approved the drug in late 2020
The US Food and Drug Administration has approved the drug lonafarnib in late 2020. Children who have Hutchinson-Gilford progeria syndrome could extend their lifespan by 2.5 years if they take the drug; they usually have an average lifespan of 14.5 years only.
Gordon was incredibly excited because the treatment they had FDA approved was the first and only approved drug for that form of progeria. Although it does not cure the disease permanently, it increases the patient's lifespan significantly. When Gordon started the foundation, they wanted to give children with the disease a great life.
Sam shared his happy life
Sam gave a heartwarming TEDx Talk before he died in 2014. She shared how he has lived a happy life to the 60 million people who have viewed the talk. In 2013, HBO made a documentary "Life According to Sam" to chronicle his life story.
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The documentary showcased how Sam's life was similar to that of any ordinary children and teens. He loved listening to music, read comics, and follow Boston sports. Gordon noted that her son had inspired them to keep going on and make progress in that field.
Researchers identified a gene mutation for progeria in 2002. They created mouse models to test treatments, which led to the recently FDA-approved drug. Besides finding a cure for the disease, the foundation also aims to study more about the condition, so they could learn more about aging and cardiovascular disease.
