The Power of a Mother's Love

Rachael Bartek

Editor's Note: At the public health symposium, "Genetics of the Acadian People," held in August 1999, the late Dr. Merv Trail, Chancellor of LSU Health Sciences Center, noted in his welcome address that a telephone call from Congressman Billy Tauzin was the catalyst for creating the Center for Acadiana Genetics and Hereditary Health Care. To the nearly 600 attendees and 43 presenters listening, Dr. Trail told that "…this wonderful journey began with the love of a mother and her child. We should never lose sight of that." What follows is the story of that mother and the power of her love.

I'm Raychel Bartek, a member of the Washington, D.C., staff of Congressman Billy Tauzin. I grew up in Shreveport and then headed to the University of Southwestern Louisiana (USL) in Lafayette, where I graduated in 1975. In 1976, I married Pat Andrus, also a graduate of USL, from Opelousas. While Pat finished graduate school at LSU in Baton Rouge, I worked in the Louisiana legislature for Billy Tauzin, who chaired the House Natural Resources Committee.

"We moved to Washington, D.C., in late 1979. Our 15-year marriage produced three healthy baby boys: Byron, born in 1984, Keith, born in 1985 and Stuart, who came along in 1988. My children represent the weaving together of Louisiana's rich heritage-a mesh of north Louisiana Protestant culture with the south Louisiana French Acadian Catholic culture.

My baby boy, Keith, arrived home from the hospital on Christmas Eve. From the moment I saw the sparkle in his eyes, I was convinced he wanted to be snug in his crib awaiting a visit from Santa Claus. As a toddler, Keith was a happy, curious baby. He would chirp his favorite sayings, "touch it, touch it," and "have it, have it." His outreached hands would excitedly grab the object of his fancy, and he would invariably put it in his mouth. He would crawl into the laundry room just to taste our cat's food. He would cheerfully sing, "I special, I special," while riding in his car seat. 

Preschool years brought to Keith big wheels, playing cowboys, and climbing trees. Time passed quickly, and it wasn't long before Keith was boarding the school bus to attend his first day of elementary school. He begged for a karate outfit and the opportunity to take karate lessons. Despite his enthusiasm when his lessons began, he just couldn't keep up with his classmates because he would lose his balance. The roller blades he received for his birthday sat unused in the corner of his room. Balancing and steering his bicycle were dangerous-he would weave around on the sidewalks and on streets. He started receiving poor marks in school for handwriting and for incomplete assignments. Keith was trying hard, but his best efforts took a lot of time and produced below average results. Try to imagine the concern I felt as this precious boy continued to stumble and for no reason!

By third grade, he began showing signs of motor skill problems, and by the end of fifth grade, in 1997, he was diagnosed with a genetic disorder called Friedreich ataxia. Fighting back tears, I listened to the neurologist as she told me that Keith's physical capabilities would continue to slowly deteriorate. Walking would eventually become dangerous, and he would be in a wheelchair by his late teens. Aggressive scoliosis (curvature of the spine) would require major surgery to insert steel rods to hold his back straight. His speech would become slurred, and his hearing and eyesight would slowly become impaired. Diabetes would develop. The heart condition called hypertrophic cardiomyopathy would shorten his life expectancy.

Can you imagine the grief and shock of being told there is no treatment or cure for your child? Driven by a mother's love, I began putting my hands on as much available information on Friedreich ataxia as I could find. I quickly discovered that my son's Louisiana French Acadian ancestry increased his odds of getting this disease.

Friedreich ataxia is rare because it is inherited recessively; that is, a person gets the disease only when he or she inherits defective genes from both parents. In south Louisiana, one in 70 people carries the gene. Keith's father, Pat Andrus, is of French Acadian ancestry. His family is originally from the Opelousas, Ville Platte, and Eunice areas. In the general population, the odds of being a carrier are about one in 110. I fall into this general population category. Pat and I were like so many Louisiana high school graduates who headed south to college. We represented members of the two diverse genetic populations in the state who met, married, and had children.

Neither side of the family was aware of any relative with Friedreich ataxia. When two carriers have children, each child has a one in four chance of being afflicted with the disease. We're proof it happens! My other two sons were tested for the disorder. One is negative and the other is a carrier like his parents. They may not be afflicted but they certainly are affected by this disorder, as is everyone in our family.

For more than 20 years, I have worked for Congressman Billy Tauzin. "Mr. Billy," a Cajun himself, has known Keith all his life. He wanted to help Keith and all the other families in Louisiana coping with Friedreich ataxia. He was instrumental in securing an appropriation to establish the Center for Acadiana Genetics and Hereditary Health Care through Louisiana State University Health Sciences Center in New Orleans.

Congressman Tauzin has said,

"As Louisianians, we are proud of our 'joie de vivre,' unique cuisine, lively music, and devotion to family. The Center is established in this spirit-to help families, neighbors, and friends who are impacted by these health problems. The Center brings clinical services to the state's rural population and provides education and outreach to citizens in these small communities, as well as to health care professionals, about the causes, impact, and management of genetic diseases. What a comfort it is to have medical professionals conduct clinics in these small towns to provide medical advice and raise awareness."

Motivated by my son's distressing diagnosis, I became energized in my commitment to speed up research. My husband Ron and I founded the Friedreich Ataxia Research Alliance (FARA) to accelerate efforts to find treatments or a cure for Friedreich ataxia. FARA also hosts scientific mini-conferences to identify promising avenues of research and works together with the National Institutes of Health, the U.S. Congress, and patient advocacy groups.

Research is the key to understanding Friedreich ataxia. In the case of our family, research is undeniably lifesaving research. We must work to change the course of this disease and improve the prognosis for Keith and our family, as well as for families all over the world.