Message to New Families
I am the mother of 3 boys. One of my sons was diagnosed with Friedreich's ataxia (FA). Below, I have written out my thoughts and observations regarding the adjustments in my family's life that have resulted from that diagnosis.
All families are different, but I hope you and your family find something helpful in my experience. If you would like to talk personally with a parent of a child with Friedreich's ataxia, please call FARA at (484) 879 6160.
When my son Keith was in the third grade, he slowly began showing signs of fine-motor skill problems. His handwriting got progressively worse and he would shake his hand because it cramped when he wrote just a few sentences. It took him hours to do his homework. His grades began to fall. The school ruled out emotional or learning disabilities. He would also fall and lose his balance for no reason. Despite early enthusiasm with karate lessons, he grew frustrated with his balance and decided to stop taking the lessons. Following a number of meetings with teachers, counselors and administrators, Keith was placed on a waiting list for an appointment with a pediatric neurologist to check for medical problems. Two years had passed by that time and Keith was completing the 5th grade. Everyone was frustrated — school officials, parents and, most of all, Keith.
At Children's Hospital, Keith was given a series of neurological tests, an MRI and an x-ray of his spine. The neurologist took out the "little hammer" to test reflexes in his knees. There was no response. I felt a chill and shudder come over my body. I knew something was terribly wrong. The doctor then performed a nerve conduction test where Keith's legs and arms were wired to receive electric current to see how his nerves responded. After this painful test, the doctor asked Keith to go play in the waiting room. Sensing that it was bad news, I pleaded for the doctor to tell me what her suspicion was. Her eyes watered as she told me Keith had a neurodegenerative disorder called Friedreich's ataxia.
From the information I would find that night on the Internet, I would learn that Friedreich's Ataxia would slowly rob Keith of his ability to run, walk, write, and speak clearly. He would probably be in a wheelchair by his late teens. He would develop serious scoliosis and possibly diabetes. Worse yet, the heart condition accompanying the disorder, I read online, reduces the average life expectancy to early adulthood.
My first question to the teary-eyed doctor was, "What medication can he take to help him?" I was not prepared for the answer, "There is no treatment and there is no cure." Gathering as much composure as I could muster, I walked out to see Keith. He looked up and asked me why my eyes were red and the only thing that I could think to say was that the alcohol smell in the hospital made my eyes water. As we drove home, I felt like I was in a trance. Several weeks later, the results of a genetic blood test confirmed the diagnosis of Friedreich's ataxia. Once we had an official diagnosis, we had many adjustments to make regarding our family, coping, and the educational and medical needs for our child. You will probably have similar adjustments, questions, and experiences.
Is your child old enough to understand? If you have more than one child, how will the others react? Are you able to discuss the diagnosis without becoming overly emotional? Will your child be accepting, angry, scared? When will you want to tell your child?
Keith was 11 years old when he was diagnosed. His brothers were 9 and 13. We waited a few days before we all gathered together. It was important to stay calm and composed — meaning Mom should try not to cry. We told the boys that we finally knew why Keith had been having so much trouble in school and why his muscles were cramping and he fell sometimes. We told him and them that he had Friedreich's ataxia and that it would make it harder for him to walk, run, skateboard, and ride a bike. We found it helpful to keep the explanation simple and general. We think it important not to lie to the kids, but we don't feel you have to go into great detail. After the family meeting, we met with just Keith to answer any other questions he may have had. Over time Keith's questions become more specific and we have always answered his questions honestly.
When Keith's older brother, Byron, was in Middle School, he wrote a school report about Keith's diagnosis. Here are his words:
"When we were first told that Keith had Friedreich's ataxia, we were confused because we had no idea at the time what it was. My parents explained it to my younger brother and me and we understood that Keith would soon need our help for certain things. For example, he can barely write at all and I sometimes need to help him with his homework. He can not do PE in school, so he has to be in adaptive PE, which is probably very boring. His friends sometimes give him help carrying his books and backpack. He has to wear a back brace for most of the day because he has a curve in his spine and the doctors are trying to keep it as straight as possible. One day he'll need an operation to keep it straightened. He also gets tired if he has to walk too much and he sleeps a lot on the weekends, usually twelve or thirteen hours a day."
Friedreich's ataxia is a recessive disorder, so both biological parents must be carriers of the disease for a child to be affected. Each such carrier parent has one mutated gene (allele) and one normal gene (allele) at the Friedreich's ataxia location on the 9th chromosome. Because each child gets one of the mother's genes and one of the father's genes in this location, there are four possible combinations of the genes passed down to the child.
This punnet square illustrates the possible genetic combinations for the child of two carrier parents. A capital "A" indicates a normal gene copy. A lower case "a" indicates the mutated gene. The carrier parents (Aa) are indicated outside the square. The possible offspring combinations are denoted within the 4 squares: 1 in 4 (25%) possibility that the child will be affected (aa); 2 in 4 (50%) that the child will be a carrier (Aa); 1 in 4 (25%) that the child will have only normal genes (AA).
In other words, a child must inherit two mutated genes, one from each parent, to develop the disease. So, each child from this union of carriers has, independently, a 1 in 4 chance of inheriting the two mutated genes and developing Friedreich's ataxia. Each child of the union has, independently, a 1 in 2 chance of inheriting just one mutated gene, and becoming a carrier like the parents. A carrier will not develop the disease but could pass the mutated gene on to his or her children. Finally, each child of the union has, independently, a 1 in 4 chance of inheriting two normal genes. Such a child is not a carrier and can not pass on the disease gene.
These chances are independent — the same for each child of such a union. The fact that one child of the union gets both mutated copies of the gene has no bearing on whether another child of the union gets both mutated genes or not.
Positive FA genetic test results usually contain two numbers that indicate presence of the disease. For instance, my son's results read as follows: Allele 1 = 700 triplet repeats, and Allele 2 = 1050 triplet repeats. What do these numbers mean?
Our genetic code is spelled out along the double helix of our DNA by triplet combinations of four nucleotides labeled A, T, C, and G. At the key place in the Friedreich's Ataxia gene of a person not affected with the disease, only a dozen or so triplet combinations of the nucleotides GAA would be found. In a FA patient, however, this combination of the GAA nucleotides is usually repeated hundreds of times, making it very difficult for the code on the normal part of the gene to be read or "transcribed" and thus limiting the amount of Frataxin protein that can be encoded and formed.
So, the two numbers in the genetic test reports refer to the number of GAA triplet repeats on the FA gene. One number is associated with the allele (gene) inherited from mom and the other number is associated with the allele (gene) inherited from dad. The expanded numbers of the GAA triplet repeats confirm the inheritance of Friedreich's ataxia. Research seems to indicate general correlation between some FA symptoms and the numbers of GAA repeats.
A child diagnosed with Friedreich's ataxia is served by the Individuals with Disabilities Education Act (IDEA). This law entitles your child to have an Individual Education Plan (IEP), which provides a blueprint for how the child's education needs must be met. IEP teams, usually consisting of parents, administrators, teachers, and sometimes the student and outside experts, meet to craft each child's IEP.
When 9-year-old Zac, in Ohio, changed schools in 4th Grade, he prepared a presentation that he and nurse Debbie gave to tell his new classmates about Friedreich's Ataxia.
My son Keith was in 6th grade when the school recommended we tell his classmates about his diagnosis. He had been diagnosed at the end of 5th grade. Keith, his dad, and I appeared before the 3 different sections of 6th grade — about 25 kids per section. I prepared remarks — mainly to avoid becoming emotional or rambling. After the prepared remarks, we opened the floor up for student questions and answers.
After diagnosis, we assembled various medical professionals to monitor and manage the various aspects of FA. Below is a description of those medical professionals, however this is not what everyone needs. There are now clinical care guidelines for individuals with FA. I would encourage you to be familiar with these and give a copy to your primary physician.
Medical professionals who may monitor your child:
Primary Care Physician (PCP): Oversees your child's overall medical needs. If your insurance requires a referral from the PCP, it is vital to have a good working relationship with your PCP and office staff. Referrals to specialists are needed on a regular basis to monitor the symptoms associated with FA.
Pediatric Neurologist: Friedreich's ataxia is a neurological disorder and this specialist should be familiar with the disease progression and be able to answer some of your questions about research. FARA funds a Collaborative Clinical Research Network in Friedreich’s Ataxia. For information on the institutions and neurologists in this network, visit the Research and Clinical Programs section of the website.
Cardiologist: Hypertrophic cardiomyopathy is the most life-threatening symptom associated with Friedreich's ataxia. Our son is examined every six months by the cardiologist. Tests performed include an electrocardiogram (EKG) and an echocardiographic (ECHO) evaluation. Once a year, the cardiologist has him wear a Holter Monitor for 24 hours.
An EKG will help the doctor evaluate the patient's cardiac condition related to irregular heart beats or rhythm or if there is a decreased supply of blood and oxygen to the heart.
An ECHO will help the doctor evaluate how well the heart is pumping, how well the valves are working and the size of the heart and wall thicknesses of the heart ventricles (pumping chambers).
Holter Monitoring is a continuous, twenty-four hour electrocardiographic (EKG) recording of the heart's rhythm. This test will help the doctor evaluate the type and amount of any irregular heart beats during regular activities, exercise, and sleep. This is done annually.
Orthopedic: Aggressive scoliosis is associated with FA. Most children wear a back brace that may slow the progression of the curve. Orthopedics routinely examine FA patients every 4-6 months. When the curve reaches 40 degrees, the orthopedic may begin to discuss the option of spinal fusion surgery. This surgery can usually correct the curve to about 25 degrees.
Physiatrist: A physiatrist is a physician specializing in physical medicine and rehabilitation. The physiatrist works with a physical therapist. Keith's physiatrist recommended the use of patty bobs in his shoes. They replace the soft foam insoles in the shoes and are made of thin hard plastic. The physiatrist also recommended the use of ankle weights and wrist weights.
Physical Therapist: A physical therapist can monitor your child's range of motion and strength. The PT can also design an exercise regimen for your child.
MDA Clinic: Friedreich's ataxia is one of 40 disorders addressed by the Muscular Dystrophy Association (MDA). MDA's 230 hospital-affiliated clinics offer quality medical care available from doctors, nurses, and therapists experienced in dealing with neuromuscular diseases. Many of the medical professionals listed above are associated with the MDA clinics.
Shriner's Hospitals for Children: The Shriner's Hospitals for Children is a network of pediatric specialty hospitals, founded by the Shrine, where children under the age of 18 receive excellent medical care absolutely free of charge. There are 18 orthopaedic Shriners Hospitals. There is never a charge to the patient, parent, or any third party for any service or medical treatment received at Shriner's Hospitals. Shriner's Hospitals accept and treat children without regard to race, religion, or relationship to a Shriner. Any child may be eligible for treatment at a Shriner's Hospital if the child is under 18 and if, in the opinion of the hospital's chief of staff, the child has an orthopaedic condition that Shriner's Hospitals can help.
Friedreich's ataxia patients are considered high-risk patients for flu and pneumonia. You should check with your physician about a flu shot every year for your child and the other members of the family. You should check with your physician, also, regarding a pneumonia vaccine and how often to administer it. Always check with a physician prior to requesting these vaccines in case there are other personal health considerations that would indicate a reason not to receive the vaccines.
An excellent resource available for helping you and your family cope with living with FA is a group of parents facing the same diagnosis and challenges. If you are a parent of a child diagnosed with Friedreich's ataxia, the Friedreich's Ataxia Parents Group (FAPG) welcomes you and wants to tell you that you are not alone anymore! From all over the world, parents communicate with each other through this e-mail list. Parents share the joys of raising their children, as well as the heartache of the progressive condition called Friedreich's ataxia.
I have met many helpful and caring parents through FAPG and I'm proud to have developed many lifeline friendships from this group. I can compare educational and medical needs with other parents, as well as advice on coping skills, helpful devices, and helping hands in the community. FAPG parents understand, too, that sometimes you need to discuss the challenges of your day with someone who can relate. In one word: invaluable!
After receiving this diagnosis, your family life is in an upheaval of change. As time passes, a "new normal" evolves. And yes, on some days you will wonder why you complained about anything prior to Friedreich's ataxia entering your family circle.
There is hope through research. FARA is working every day to promote research seeking a treatment or cure for Friedreich's ataxia. Please consider helping FARA by raising funds to support research. Together, we CAN change the timetable of this disease.
Another way you can help is to consider participating in a clinical trial.