A business owner and family man balancing a full life while advocating for a cure for CTX

George and his family love history. They enjoy road trips to Williamsburg, Amish country, Civil War and Revolutionary War sites, and any other spot of historical interest. Along with George, their four kids benefit from their mom’s passion as a US history teacher, making stories of the past relevant to life today.

George’s personal history includes an ultra-rare disorder diagnosis of cerebrotendinous xanthomatosis, or CTX. But like so many rare disorder diagnosis stories, his began as a mystery.

He was in his early 30s when he began to notice something was off. When standing up from sitting in his chair, his legs wouldn’t feel quite right. When jumping down from the back of a truck at work, he wouldn’t stick the landing like he always had.

A game of softball drove home that something was wrong. “I hit the ball, and ran – but I tripped every 2 or 3 steps. One of the guys asked if I need someone to run for me.” What was going on?

George went to see his primary care physician who was also a sports medicine doctor. That doctor diagnosed George with clonus, a neurological condition resulting in involuntary muscle contractions and relaxations. An MRI revealed no cause for clonus, and a visit to a neurologist still didn’t identify what was causing George problems with his balance.

The neurologist’s recommendation to head to the Mayo Clinic led to the answer. There he saw a neuromuscular specialist who did a thorough evaluation and saw enlargement around the Achilles tendons. These were xanthomas, fatty growths that develop underneath the skin that indicate an underlying condition. High cholesterol, diabetes, diseases that impact the flow of bile from the liver, and other conditions can be causes of xanthomas.

“You have CTX,” said the neurologist at Mayo Clinic. “Very few other people have it,” he added.

Cerebrotendinous xanthomatosis (CTX) is a rare, progressive and underdiagnosed bile acid synthesis disorder affecting many parts of the body. In people with CTX, the body is unable to break down cholesterol properly causing toxins to build up throughout the body over time. The types, combinations and severity of symptoms can be different from person to person, making diagnosis challenging and often delayed. The number of cases reported worldwide is only in the hundreds.

“I’ve been very fortunate,” said George, reflecting on his day-to-day in the last 20 years with CTX. A successful business owner in North Carolina, George has not had success finding doctors who are familiar with CTX. He spent many years flying back to Arizona to go to the Mayo Clinic to the neurologist who made the correct diagnosis. He walks with a cane now, takes medication, and knows the disease can lead to cognitive impairment which is the scariest to both him and his wife. “But I count my blessings every day for the great health that I have,” he said.

The disorder is inherited in an autosomal recessive genetic manner, meaning that a child is affected when each parent passes on one copy of the mutated gene. George’s sisters and brothers were tested for CTX after his diagnosis and are not affected by it.

Recently, a group of patient advocates came together to form the CTX Alliance, a nonprofit voluntary health organization providing education and support, and promoting research for people living with CTX, their families and medical professionals treating and studying the disorder. George is a part of the leadership team at CTX Alliance.

Working with state and federal legislators, the nonprofit is advocating to have CTX added to the recommended uniform screening panel or RUSP. The RUSP is a list of disorders that the Secretary of the Department of Health and Human Services recommends for states to screen as part of their newborn screening programs. By identifying CTX at birth, people have a better chance to avoid the complications of CTX, like cataracts, xanthomas, difficulties with coordination and balance, and neurologic deterioration.

“It’s important that people are diagnosed earlier, but there also needs to be genetic research into modifying the gene and curing the disease,” George said hopefully.

For more information about CTX, visit CTX Alliance and United Leukodystrophy Foundation.