“There are 5,000 people with this condition in the United States, and we got one!” said speaker and Rotarian of the week, John D. “Bo” Walker, as he spoke to the Winnfield Rotary Club at its meeting on October 20, 2021. He was referring to his granddaughter, Kate Walker, the child of Jason and Rachel Walker, who is affected by a rare inherited disease called Friedreich’s ataxia.
Of course, as a grandparent, Mr. Walker would naturally think his granddaughter special, but Kate Walker truly is a special, one-of-a-kind person who has adapted to and confronted her disorder with courage, grace and generosity.
Friedreich’s (name of the physician who first described the disorder in 1863) ataxia (meaning loss of coordination) manifests in a person’s loss of coordination in the arms and legs, fatigue, energy deprivation, and muscle loss, vision impairment, hearing loss, and slurred speech, aggressive scoliosis (curvature of the spine), diabetes mellitus and hypertrophic cardiomegaly (a serious condition meaning the heart is enlarged). And yet, despite such challenges and limitations, Kate last year graduated from high school with a 4.3 grade point average, and is now a freshman at the University of Arkansas. In the meantime, in addition to being active in extracurricular activities and her church, she and her parents decided to become active advocates to raise awareness of FA as well as to raise money for research on the disorder to discover and develop treatments and a cure in cooperation with FARA—Friedreich’s Ataxia Research Alliance.
Hints of Kate’s condition surfaced when her parents attempted to teach her to ride a bicycle, and she simply could not do it. Noticeable loss of coordination, fatigue and muscle loss, and slurred speech showed up gradually as she became older, and when she was 11, she was diagnosed with an enlarged heart. This led to extensive genetic testing and analysis of Kate and her parents, resulting in a definitive diagnosis of FA when Kate was 14 years old.
FA is among a large group of disorders referred to as muscular dystrophy. It is distinct in that it is caused by a defect in the specific gene labeled FXN carrying the genetic code for a protein named frataxin. Frataxin is responsible for the proper function of nerve fibers in the spinal cord, the peripheral nerves that carry information from the brain to the body and from the body back to the brain, and the part of the brain that regulates balance and movement, that is, the cerebellum. The defect in the FXN gene causes the body to produce inadequate frataxin, so the nerve fibers in those areas become thin and deteriorate. Thus, the critical messages between the brain and body that regulate movement, muscles and balance aren’t properly transmitted, and the person with FA gradually loses the ability to move the muscles properly. The disorder does not affect the patient’s mental or intellectual development or ability, as you might guess from the fact that Kate is obviously bright, as can be seen from her academic accomplishments, and determined, as can be seen from her living her life as independently and actively as possible.
The disease is rare because the defect in the FXN gene is inherited by a child only if both parents have the defective FXN gene. If only one parent has it, the other parent’s normal gene will be dominant and the children will not develop FA. FA affects about one person in every 50,000 people in the United States, so Kate is one of only about 5,000 people in the U. S. with this rare disease. Indeed, there are only about 15,000 people with FA in the world.
FA’s symptoms usually show up in childhood and get progressively worse over the years. Most people are diagnosed between the ages of five and 15, although some are not diagnosed until adulthood. The rate at which the symptoms progress in severity varies from person to person, but FA often shortens the life expectancy of those affected by it, primarily due to heart disease.
Because FA is a fairly rare disease, funding from government sources and pharmaceutical companies for research to find a cure or even treatments for the disorder is not available in the research and development stages. Those institutions only invest in treatments or cures that have already shown significant promise in treatment or cure of the disease, that is, research studies have already been done that show the drug or treatment will likely be successful in curing or retarding the progression of the disease. Getting to that stage requires a lot of private money to conduct research studies on the disorder and develop ideas about treatments and drugs that could cure or halt progression.
The Friedreich’s Ataxia Research Alliance [FARA] was founded in 1998 by Ron and Rachel Bartek, whose son Keith was diagnosed with FA at age 11 and died at age 24, other FA patients and their parents, and interested scientists, for the purpose of finding a cure for FA. The Alliance raises funds from which it funds drug research and development, created and maintains a worldwide patient registry to link researchers to individuals with FA, creates connections among scientists interested in investigating FA, educates the medical communities as well as patients and their families about FA and research advances, and generally raises awareness of FA.
One of the annual events put on to promote FA awareness and raise money for research is rooted in Ride Ataxian, which began with Kyle Bryant, an FA patient, determining that he wanted to do a cross country ride. He talked his buddy, Sean Baumstock, into it as well. While Kyle and Sean can’t walk, they can ride recumbent bikes. Kyle and Sean and two other friends loaded up their bikes and a videocamera, and took off on a ride from Oceanside, California to Anapolis, Maryland, a distance of 3300 miles, with the guys taking turns riding, three to four hours at a time, 24 hours a day and someone filming along the way. They made it in eight days, eight hours and 14 minutes. The documentary is called Ride Ataxian. Kyle and Sean have since developed a podcast called “Two Disabled Dudes,” in which they discuss their personal life missions of living beyond their circumstances.
Ride Ataxian was the beginning of several annual rides across the country featuring people with FA riding many miles to raise awareness and funds for FA. Kate began participating in the Ride Dallas for FA in 2017, and has ridden every year since, except the 2020 ride. In those years, she has been second, third and fifth individual fundraiser, and her team, Kate’s Krewe, was the highest fundraising team in 2018, thanks in large part to Kate’s supporters here in Winnfield, especially her grandparents, Bo and Chris Walker, and Jimmy and Helene Walker. The Ride Dallas will take place this year, and Kate and her Krewe are again participating by raising money and awareness for FA, although Kate will not ride.
Kate has made and posted 116 YouTube videos related to her daily life with FA since 2018, so you can check her out there. She also has a website located at MakeithappencureFA. She is a busy and independent young woman in her freshman year of college, attending class, studying, taking physical therapy, and still working to raise awareness of FA and help find a cure for this disease. Kate has taken a cue from Kyle and Sean, and is truly living beyond her circumstances and making the most of her abilities and opportunities.
Mr. Walker reported that there is a current study of a drug which has shown promise for retarding, and perhaps even stopping, the progression of FA, although it has no curative promise. If you would like to contribute to FARA to help fund development of a drug or other treatment that would improve, extend or even completely change the lives of people with FA, you can contribute online at the FARA website, but please be sure you attribute your contribution to the team called Kate’s Krewe. Of course, if you want to write a check or make a cash contribution, just call John D. “Bo” Walker or Chris Walker and they will be happy to accept the contribution and get it to FARA.