Dear Friend,

I am the mother of 3 boys. One of my sons was diagnosed with Friedreich's ataxia (FRDA). 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 (703) 413-4468.

Jump to one of these sections on the page:
› My Son Prior to Diagnosis
› Receiving the Diagnosis
› Telling Your Child
› My Brother Has Friedreich's Ataxia (FRDA)
› A Book Written by a Teen with Friedreich's Ataxia
› Could my other children have Friedreich's Ataxia?
› What do the two numbers on the FRDA genetic test mean?
› Genetically speaking, what happens in the body due to a diagnosis of Freidreich's Ataxia?
› School — Your Child's Education
› Telling Your Child's Classmates
› Medical Care for Your Child
› Vitamins and Antioxidants
› Flu shot and Pneumonia Vaccine
› Coping — Where can I turn?
› Life After Diagnosis — There is hope!

Additional Information:
› Patient Database Registration
› Photo Gallery of Friedreich's Ataxia Families (www.fortnet.org)

My Son Prior to Diagnosis
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.

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Receiving the Diagnosis
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.

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Telling Your Child
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.

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My Brother Has Friedreich's Ataxia (FRDA)
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."

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A Book Written by a Teen with Friedreich's Ataxia
Amanda (Mandie) Rieffenberger wrote a book "Through the Eyes of a Child" to work through the feelings and issues she faced as a result of Friedreich's ataxia. The book was written over the course of three years in Mandie's life. When she completed it in 1996, she began working to get her book published so she could share her experiences with others. Now that the book has been published, it has been used in elementary and secondary school programs, and is used at the collegiate level in courses for therapists and physicians. If you're interested in contacting Mandie about her book, you can email her at rieff1@wat.midco.net.

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Could my other children have Friedreich's Ataxia?
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. A more detailed discussion of FRDA genetics is contained in the section below entitled "Genetically speaking, what happens in the body due to Freidreich's ataxia?"

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What do the two numbers on the FRDA genetic test mean?
Positive FRDA 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 FRDA 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. A more detailed discussion of FRDA genetics is contained in the section below entitled "Genetically speaking, what happens in the body due to Friedreich's ataxia?"

So, the two numbers in the genetic test reports refer to the number of GAA triplet repeats on the FRDA 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 FRDA symptoms and the numbers of GAA repeats.

Excerpt from GeneClinics Profile on Friedreich's Ataxia (www.geneclinics.org):

• The age of onset, presence of leg muscle weakness / wasting, duration until wheelchair use, and prevalence of cardiomyopathy, pes cavus, and scoliosis, have all shown statistically significant correlations with GAA expansion size [Filla et al 1996, Dürr et al 1996, Montermini et al 1997a, Monrós et al 1997].

• Shorter alleles with fewer than 500 GAA repeats tend to be associated with late onset of symptoms (i.e., after age 25).

• The size of the shorter of the two expanded GAA repeats shows the best correlation, accounting for ~50% of the variation in age of onset [Filla et al 1996].

• In addition, a correlation between the average of the two expansion sizes and the age of onset has been identified [Lamont et al 1997]. De Michele et al. [1998a] found that the shorter GAA expansion accounted for 73% of onset age variance, and sibling onset age accounted for an additional 13%.

• Cardiomyopathy and diabetes are more frequently seen with alleles greater than 700 repeats [Filla et al 1996, Monrós et al 1997, Isnard et al 1997]. Isnard et al. [1997] found a significant correlation between the length of the GAA expansion and the thickness of the left ventricular wall. They also found that 81% of FRDA patients with repeat lengths greater than 770 triplets and 14% of those with repeat lengths less than 770 triplets showed echocardiographic evidence of left ventricular hypertrophy.

• "Despite these general genotype correlations, it is not possible to predict specific findings based on the GAA repeat size in individual cases."

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Genetically speaking, what happens in the body due to Friedreich's ataxia?
"Humans have two copies of each gene — one inherited from the mother and one from the father. Each genes is located at a specific place on each of an individual's 46 chromosomes [23 pairs], which are tightly coiled chains of DNA containing millions of chemicals called bases. These bases — adenine, thymine, cytosine, and guanine — are abbreviated A, T, C, and G. Certain bases always "pair" together (A with T; C with G), and different combinations of base pairs join in sets of three to form coded messages.

These coded messages are "recipes" for making amino acids, the building blocks of proteins. By combining in long sequences, like long phone numbers, the paired bases tell each cell how to assemble different proteins. Proteins make up cells, tissues, and specialized enzymes that our bodies need to function normally. The protein that is altered in Friedreich's ataxia is called frataxin.

In 1996, an international group of scientists identified the cause of Friedreich's ataxia as a defect in a gene located on chromosome 9. Because of the inherited abnormal code, a particular sequence of bases (GAA) is repeated too many times. Normally, the GAA sequence is repeated 7 to 22 times, but in people with Friedreich's ataxia it is repeated 800 to 1,000 times. This type of abnormality is called a triplet repeat expansion and has been implicated as the cause of several dominantly inherited diseases. Friedreich's ataxia is the first known recessive genetic disease that is caused by a triplet repeat expansion. Although about 98 percent of Friedreich's ataxia carriers have this particular genetic triplet repeat expansion, it is not found in all cases of the disease. A very small proportion of affected individuals have other gene coding defects responsible for causing disease.

The triplet repeat expansion apparently disrupts the normal assembly of amino acids into proteins, greatly reducing the amount of frataxin that is produced. Research suggests that without a normal level of frataxin, certain cells in the body (especially brain, spinal cord, and muscle cells) cannot manage the normal amounts of "oxidative stress" which the mitochondria, the energy-producing power plants of cells, produce. This clue to the possible cause of Friedreich's ataxia came after scientists conducted studies using a yeast protein with a chemical structure similar to human frataxin. They found that the shortage of this protein in the yeast cell led to a toxic buildup of iron in the cell's mitochondria. When the excess iron reacted with oxygen, free radicals were produced. Although free radicals are essential molecules in the body's metabolism, they can also destroy cells and harm the body." Excerpted from Friedreich's Ataxia Fact Sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).

Friedreich's Ataxia Fact Sheet (www.ninds.nih.gov)

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School — Your Child's Education

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.

The Individual Education Plan (IEP) (www.fortnet.org)

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Telling Your Child's Classmates
When 9-year-old Zac changed schools in 4th Grade, he prepared a PowerPoint (PPT | PDF) to tell his new classmates about Friedreich's Ataxia. He and nurse Debbie gave presentations to both fourth grade classes at his new school in Ohio.

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. Read the Prepared Remarks (www.fortnet.org)

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Medical Care for your Child

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 FRDA.

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.

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).

A 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 FRDA. Most children wear a back brace that may slow the progression of the curve. Orthopedics routinely examine FRDA patients every 4-6 months. When the curve reaches 40 degrees, the orthopedic may begin to discuss the option of spinal fusion surgery (www.fortnet.org). 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 (www.mdausa.org): 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 (www.shrinershq.org): 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.

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Vitamins and Other Antioxidants
This is a list of vitamins and other antioxidants that some patients take. This should not be construed as a recommendation, but merely a list of dietary supplements that many FRDA patients are reportedly taking so as to give you an idea of what many families are doing in this regard. All vitamins and other antioxidants should be taken under the guidance of a physician monitoring your child.

The following are found over the counter in a drug store, GNC, or similar retailers, and via the Internet:

• Coenzyme Q-10 & Vitamin E: A research study in England seems to indicate that, taken in combination, these antioxidants can improve heart function in FRDA patients.

• N-acetylcysteine (NAC): No scientific research has been conducted on NAC for FRDA patients. However, many patients feel that NAC improves the ataxia (motor skills).

• Alpha Lipoic Acid

• Evening Primrose Oil

• Creatine

• Selenium

• Idebenone
  "A research study in France assessed the efficiency of idebenone on cardiac hypertrophy in Friedreich's ataxia. Idebenone (5 mg/kg/day) was given orally to 38 patients with Friedreich's ataxia aged 4-22 years (20 males, 18 females). Cardiac ultrasound indices were recorded before and after idebenone treatment. After six months, cardiac ultrasound indicated a reduction in left ventricular mass of more than 20% in about half the patients (p < 0.001). The shortening fraction was initially reduced in six of the 38 patients (by between 11-26%) and it improved in five of these. In one patient, the shortening fraction only responded to 10 mg/kg/day of idebenone. No correlation was found between responsiveness to idebenone and age, sex, initial ultrasound indices, or the number of GAA repeats in the frataxin gene. CONCLUSIONS: Idebenone is effective at controlling cardiac hypertrophy in Friedreich's ataxia. As the drug has no serious side effects, there is a good case for giving it continuously in a dose of 5-10 mg/kg/day in patients with Friedreich's ataxia at the onset of hypertrophic cardiomyopathy." Excerpted from PMID: 11907009 [PubMed - in process] ACTIVE PATIENT RECRUITMENT UNDERWAY - US IDEBENONE CLINICAL TRIAL (clinicaltrials.gov) Sponsored by National Institute of Neurological Disorders and Stroke (NINDS); Bethesda, Maryland; USA

  Phase I Clinical Trial to Establish the Maximum Tolerated Dose of Idebenone in Children, Adolescents, and Adults with Friedreich's Ataxia; Number: 01-N-0167

  Idebenone Sources
  Idebenone is not available over the counter or through a prescription in the United States. If the Idebenone trial being conducted in the US proves that the drug is effective under the auspices of the Food and Drug Administration, a US physician will be able to write a prescription for Idebenone. At that time the cost of Idebenone will be based on an individual's insurance coverage of prescription drugs.

  Presently, Idebenone can be ordered over the internet from the following companies. This is for informational purposes only. FARA cannot verify the content or manufacturer of any Idebenone source listed.

  International Antiaging Systems

  Kirkman Labs

  Smart Nutrition

• MitoQuinone - MitoQ
  MitoQ is a quinone similar to CoQ10 and Idebenone but NOT identical. Promising new approach? Yes.

  FARA first learned of MitoQ as the Winter 2000 FARA Update was being written.

  FARA UPDATE Winter 2000, page 5, first paragraph:

  "MitoQ — As this Update was being prepared, discussion began within the FRDA research community regarding an additional antioxidant called MitoQ. It is a ubiquinone derivative closely related to Idebenone and CoQ10. It reportedly has potential for penetrating the inner membrane of mitochondria and helping protect the mitochondria from oxidative stress. FARA is exploring this antioxidant with the scientific community."

  2003: That exploration has led to FARA's awarding of a research grant to Dr. Michael Murphy, who is one of the 2 researchers who developed the compound, MitoQ, at Otago University, New Zealand. This funding is allowing Dr. Murphy to continue his work in pursuing this potential therapy. The testing at this stage of development is on mice rather than humans. Dr. Murphy and his team are also interested in further exploring this mitochondria-targeting process with antioxidants other than ubiquinone such as tocopherol (Vitamin E).

  Oxidative stress resulting from free radicals is a major cause of the pathology of Friedreich's ataxia (FRDA). Oxidative stress in FRDA is brought about by the shortage of the frataxin protein in the mitochondria.  CoQ10 and Idebenone are antioxidants and serve to eliminate free radicals.  CoQ10 and Idebenone are distributed widely throughout the cell. MitoQ, on the other hand, is an antioxidant intended to target mitochondria specifically. Researchers hope MitoQ can be made to target the mitochondria selectively by joining the quinone (like CoQ10) with an additional element that will concentrate the antioxidant in the mitochondria at much higher rates than the antioxidants that are widely distributed throughout the cell. In this way, they hope to combat oxidative stress where it originates and does much of its damage in Friedreich's ataxia -- in the mitochondria.

  Like Idebenone, MitoQ is not a naturally occurring substance. Therefore, in the United States it is subject to the Food and Drug Administration (FDA) process, meaning dose escalation/toxicity tests in animals, then humans, and double blind, placebo controlled clinical trials. According to an article in the The Christchurch Press, November 12, 2002, it might be available to patients by the end of 2004 — IF it satisfies quality, safety and efficacy standards. ***MitoQ is not available to patients at this date — it is in the developmental phase.***

A Note about Vitamin C supplements:

Dr. Perlman, UCLA, states in an email to the Friedreich's Ataxia Parents' Group that in a French research study*, vitamin C was mixed in with the Friedreich's ataxia heart cells. It caused more heart cell damage, because it turned the excess iron in the heart cells from iron III to iron II, which makes more free radicals and is much more toxic. High doses of vitamin C in the diet also increase iron absorption from food and may add to the problem of mitochondrial iron overload. For both reasons, high doses of vitamin C (greater than 500mg per day) should be avoided in FRDA.

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Flu Shot and Pneumonia Vaccine
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.

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Coping — Where Can I turn?

Friedreich's Ataxia Parents Group (www.fortnet.org)

An excellent resource available for helping you and your family cope with living with FRDA 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!

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Life after Diagnosis — There is Hope!
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. I want research to progress quickly to help my son and your family, too. Please consider helping FARA by raising funds to support research. 100% of your donation goes towards research - not a dime for salaries, office space, equipment or supplies. Together, we CAN change the timetable of this disease.

Another way you can help is to consider participating in a clinical trial (www.clinicaltrials.gov).