Jaiden, a twelve-year-old boy, has been diagnosed with stiff skin syndrome, a rare disease that causes his skin to harden. His family has been sharing their experiences with the condition. The original source article can be found here, at People’s website, with additional information from Jaiden’s GoFundMe page here.
About Stiff Skin Syndrome
Stiff skin syndrome is a progressive condition characterised by the development of thickened and hardened skin. Since it is so rare, there is limited information on the condition and its progression. According to Jaiden’s GoFundMe page, he is the 41st diagnosed case of stiff skin syndrome ever, and the only person known to currently be affected by it.
According to the NIH, one of the symptoms typically associated with the stiffened skin is reduced joint mobility, and joints not being able to move from a bent position. Other effects of the condition may include loss of body fat, increased hair growth, weak muscles, reduced growth, and scoliosis (an unusually curved spine).
Stiff skin syndrome is currently believed to be caused by alterations to the FBN1 gene, and genetic testing of this gene is sometimes used to confirm diagnoses of the condition. The FBN1 gene produces a protein called fibrillin-1, which, amongst other roles, is an important component of elastic fibres. These fibres allow the skin, blood vessels, and ligaments to stretch. Changes to the FBN1 gene can affect the fibrillin-1 protein, causing it to behave differently.
Jaiden is twelve now, but at age six Jaiden developed a hard spot on his right thigh. Within weeks, this had spread around his thigh to his knee. Doctors performed a biopsy and diagnosed Jaiden with stiff skin syndrome. Tim, his dad, said,
“We couldn’t believe there were no answers because it’s so rare.”
Jaiden’s form of the condition is particularly aggressive, and within a month it had moved to his left leg, buttocks, hips, and arms. Since then, it has spread further to his stomach, back, and chest. The hard spots cause joint and muscle pain and he now uses a wheelchair. The hard skin’s development on his chest is causing dangerous breathing issues that mean he needs oxygen and a respirator.
Natalie, his mum, has Friedrich’s Ataxia, a rare inherited neuromuscular condition that causes progressive nerve damage and impairs coordination. She says that her condition can sometimes make it difficult to care for Jaiden, but that when that happens, Tim takes over Jaiden’s care.
His Medical Care
Jaiden’s condition requires frequent medical attention, including a monthly four-hour drive and multi-day stay at a children’s hospital. Jaiden is being treated with strong painkillers, three weekly sessions of physical therapy, and chemotherapy to slow down the progression of the condition.
The Family’s Fundraising
However, it is a struggle to pay for Jaiden’s treatment, and the family have already taken out three mortgages on their house and used Tim’s retirement fund. They have now created a GoFundMe page to help pay for Jaiden’s medical care. Tim says,
“We won’t stop trying. One way or another, we’ll do what’s best for Jaiden.”
The family is currently working towards a goal of $1.5 million, which they say would fund a stem cell treatment for rare skin conditions that Jaison would need to fly for Europe and stay for a year in order to receive.