This article was initially published in March 2022 and has since been updated.
Natalie Rogers first noticed a lump of hard skin on her son Jaiden’s thigh seven years ago. She didn’t think much of it right away, but when it quickly began spreading to other parts of his body, she knew something was wrong.
After some tests the doctor called and asked her to sit down. The diagnosis? Stiff skin syndrome. Today, fifteen-year-old Jaiden is fighting for his life.
Stiff Skin Syndrome
Stiff skin syndrome (SSS) is extraordinarily rare. It is characterized by hard, thick skin that usually covers the entire body. The thick skin can limit joint mobility and leave joints stuck in a bent position.
Signs and symptoms of the syndrom can start at birth or sometime throughout childhood. Other symptoms include excessive hair growth, loss of body fat, scoliosis, muscles weakness, slow growth, and short stature. In some cases, the condition has also caused weakness or paralysis of the eye muscles [1].
Because it is so rare, little is known about SSS. In 2010, however, researchers at John Hopkins University School of Medicine learned more about scleroderma, a condition that can lead to SSS.
Scleroderma does not seem to be genetically inherited. Instead, researchers suspect that the connective tissue protein, fibrillin-1, may play a role in these skin conditions. More specifically, the team found that patients with stiff skin syndrome had excessive amounts of the protein in their skin.
Upon further inspection, they found that there was a mutation clustered in a single region of the fibrillin-1 protein. This region interacts with neighbouring cells, which eventually causes excessive collagen outside of cells.
Dr. Harry Dietz, Victor A. McKusick Professor of Genetics and director of the Johns Hopkins William S. Smilow Center for Marfan Syndrome Research, explained that fibrillin-1 helps inform cells about the quality of their surroundings. It also helps them create extra cellular matrix if they sense that there is a deficiency.
“A breakdown in signaling coupled with excessive fibrillin-1 and TGFbeta leads to a perfect storm for skin fibrosis in stiff skin syndrome,” said Dietz [2].
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Jaiden’s Story
Jaiden’s skin is now “turning to stone”, and doctors are warning him that he’ll become entombed in his own body if they cannot find a cure. Currently, he is thought to be the only person in the world with SSS, and as his stone-like skin presses on his lungs and heart, he is at risk for organ failure.
“The skin has started compressing on his heart so he can’t breathe without a ventilator and it’s pressing on the other organs so they will start failing,” said his mom Natalie. “His future doesn’t look good.” [3]
Before his diagnosis, Jaiden was very active. He loved football (soccer), and as a kid, he was “all over the place”, Natalie said. Today, however, he is confined to a wheelchair. He spends much of his day sleeping because of the painkillers he has to take.
“He’s very quiet about it, he doesn’t like talking about it but he cries because it hurts,” she said [3].
Jaiden’s Last Hope
The family is now raising funds in order to fly Jaiden to Italy for treatment. If the treatment is successful, it will slow the spread of the disease before it crushes his chest. Once he receives the treatment, he will be able to have therapy to help loosen his skin.
“If we don’t get him to Italy, he won’t live.” [3]
Natalie knows that they will never be able to get Jaiden out of a wheelchair. If they can get him to Italy, though, they can at least prolong his life. If you would like to support Jaiden, go to his GoFundMe page to make a donation.
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