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YOUR HEALTH: Helping make life easier for Down patients

Painful skin conditions, loss of hair, discolored skin are challenges for Down Syndrome patients

DENVER — Researchers are going beyond skin deep to help relieve some of these painful conditions people with Down Syndrome may experience.

Down Syndrome is a birth condition where a child is born with an extra chromosome.  

It 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.

The latest treatment is being used on Sam Levin.

When he was 13 years old, Sam was losing his hair.

"Kids were teasing him about it," said his father Brian.

Doctors tried medications and injections.  It didn't work.

Sam has a condition called alopecia areata where his immune system attacked his hair follicles. 

Sam Levin is an Ambassador for Global Down Syndrome Foundation.

A team at the Linda 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's the aspect of the immune system that we use to fight off viruses, but we use it only when there is a virus," explained Dr. Joachuin Espinosa, executive director of the Crnic Institute.

"Whereas people with Down Syndrome activate the interferon response constantly."

It causes the immune system to attack healthy cells. 

Dr. 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. 

Tofacitinib is being evaluated as an effective treatment for active skin conditions such as alopecia areata, vitiligo, hidradenitis suppurativa, psoriasis, or topic dermatitis.

The nationwide clinical trial, funded by the National Institutes for Health, was paused for three months due to COVID-19 but it is starting again and is open to Down Syndrome patients nationwide.  

It didn't take long for Sam and his dad to become true believers.

"And it is a life changer," said Sam.

His dad agreed.

"He has a full head of hair again, not that he needed more confidence, but now he certainly has it."

The drug is an immune suppressant, so doctors must closely monitor an increased risk for infections. 

If this story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Jim Mertens at jim.mertens@wqad.com or Marjorie Bekaert Thomas at mthomas@ivanhoe.com.