Life-changing immune help for those with down syndrome
Each year 6,000 babies are born with Down syndrome in the United States. These babies have an extra chromosome that can cause both mental and physical challenges, as well as autoimmune disorders that cause painful skin lesions, patchy bald spots and loss of skin color. Now, researchers are going beyond skin deep to help relieve some of these painful conditions.
Sam Levin’s energy is infectious. From breakdancing, to podcasting, to wrestling, Sam is unstoppable.
“I am a top wrestler, and everyone calls me the beast because I am the beast,” Sam Levin, Global Down Syndrome Foundation ambassador exclaimed to Ivanhoe.
But four years ago, at just 13 years old, Sam was losing ... his hair.
“Kids were teasing him about it,” shared Sam’s father Brian Levin.
They tried medications and injections. He has a condition called alopecia areata where his immune system attacked his hair follicles. Doctor Joaquin Espinosa’s team at the Crnic institute for Down Syndrome has found which part of the immune system is hyperactive and responsible for several painful skin conditions associated with Down syndrome.
“It’s called the interferon response; it is the aspect of the immune system that we use to fight off viruses, but we use it only when there is a virus. Whereas people with Down syndrome activate the interferon response constantly,” explained Joaquin Espinosa, PhD, Executive Director at Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus.
Causing the immune system to attack healthy cells. Doctor Espinoza is leading a nationwide clinical trial on tofacitinib, a JAK inhibitor already FDA approved to treat rheumatoid and psoriatic arthritis. Participants take the pill daily for four months. It didn’t take long for Sam and his dad to become believers.
“And it is a life changer,” Sam revealed.
“It’s something that was just miraculous to see how quickly, he has a full head of hair again, not that he needed more confidence, but now he certainly has it,” Brian shared.
And you can bet Sam will make the most out of it.
The drug is an immune suppressant, so doctors monitor increased risk for infections closely. The nationwide clinical trial is funded by the NIH. They had to pause it for three months due to COVID-19, but it is starting again and is open to Down syndrome patients nationwide.
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