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- 1. Introduction to Friedreich’s ataxia, a rare mitochondrial disease, based on tenets of the Biopsychosocial Model of Health and Illness Robbi Van Schoick, MPH Co-presenter, Tamar Shovali, MS University of Georgia
- 2. Overview of presentation Biopsychosocial Model of Health and Illness (BPS) Biological dimension of health What is Friedreich’s ataxia? Psychological dimension of health Coping Tips Sociocultural dimension of health My Personal Story FARA (Friedreich’s Ataxia Research Alliance)
- 3. Biopsychosocial Model of Health and Illness (BPS) “… nothing will change unless or until those who control resources have the wisdom to venture off the beaten path of exclusive reliance on biomedicine as the only approach to health care". – G. L. Engels , founder of BPS (1977)
- 4. Factors influencing physical health and illness according to tenets of BPS
- 5. Friedreich’s ataxia (FA) Discovered by and named after Nicholaus Friedreich in Germany in 1863 Age-progressive, mitochondrial, genetic disease Despite rarity, FA is the most common type of inherited ataxia, affecting roughly one in 50,000 in the U.S. FA is an inherited disease that causes progressive damage to the nervous and cardiac systems, resulting in a wide range of symptoms No cognitive impairment www.curefa.org
- 6. Etiology of mutation seen in FA Cause of FA at the genetic-level Dysfunction in the mitochondria, (producers of ATP) Damage begins with a mutation in the gene FXN, which carries instructions for production of a protein called frataxin
- 7. Role of the protein, frataxin One region of the FXN gene contains a segment of DNA called the GAA trinucleotide repeat Individuals with FA have GAA trinucleotide repeat expansion in both copies of the FXN gene A healthy body contains from 5 to 33 copies of GAA; a person with FA has anywhere from 66 to 1,000 copies In a healthy body, frataxin should be present in the nervous system, heart, and pancreas
- 8. Typical age of onset 75% of individuals affected by FA experience gait ataxia beginning in late childhood and progress to use of wheelchair or walker by adolescence Although, FA can exhibit throughout life-span In sum, FA is a highly unpredictable age-progressive disease
- 9. Atypical ages of onset Individuals who present with symptoms of FA between ages 26 and 39 are considered to have late-onset FA When symptoms begin after age 40, the disease is called very late-onset FA Because of the availability of genetic testing, cases of later onset are rising substantially Very recently, a brother and sister in NY were diagnosed with FA in their seventies
- 10. Heritability Autosomal recessive genetic disorder A carrier has only one disease gene in an allele Because FA is autosomal recessive, about 1 in 100 people carry a single gene However, about only one in 50,000 inherit both copies
- 11. Inheritance in my family 1/16 chance they would have two affected children Katie will know if she is a carrier upon genetic testing My parents both have normal phenotypes, but now we know they each carry the FA gene recessively I have two sisters: Becca (28) also has FA and (24) Katie is healthy. So, there is a 1 in 4 chance my parents would have an affected child
- 12. Variation in symptoms Symptoms, their severity, and speed of progression differ from one person with FA to another For example, 10% of patients develop hearing loss 20% develop carbohydrate intolerance 10% develop Diabetes mellitus Heart problems associated with FA range from mild to life-threatening www.ninds.nih/disorders/friedreihs_ataxia.htm
- 13. Common symptoms Spasticity Scoliosis Hearing and/or vision problems Diminished sensation in lower extremities Cardiomyopathy (usually either hypertrophic or inflated heart) Speech and swallowing problems Fatigue
- 14. Life-expectancy with FA Many individuals with FA die in early adulthood from the associated heart disease, the most common cause of death. However, some people with less severe symptoms and with later diagnosis live much longer, sometimes into their sixties or seventies
- 15. Part 2 of BPS: Psychological dimension of health with FA According to BPS, a person’s perception of his/her health is as important as the presence of disease Disease and illness are not one in the same Therefore, my having a disease does not necessarily mean I have an illness
- 16. Coping and stress-management tips for better health Enjoy the little things in life. Drinking a good cup of coffee is essential to stress-management. Enjoy working one day at a time on reasonable goals. I do my best work at a slow, but steady pace, and I have a strong sense of self-efficacy in my ability to accomplish goals. Maintain a healthy self-esteem by keeping a positive attitude. I try to focus on the present and on what I can do, here and now.
- 17. Coping with an age-progressive disease Finding a balance: work well, play well. I spend time on email, reading, and working to maintain my health and mind-body connection everyday. I also do activities I enjoy, like watching movies, shopping, eating out, and reading for pleasure. If I haven’t done both, my day is not complete. Mind-body connection is an integral component of my approach to health and well-being. I practice yoga daily and mindfulness once a week; my sister with FA practices Tai Chi and Chair Salsa, (with videos purchased on amazon.com). If you are able, I also recommend pilates .
- 18. Coping with an age-progressive disease (cont’d) Maintain a low-stress environment. I do my best to set small, practical goals for myself and not worry about the future. This way, I can be productive, while taking time for self-care. Self-efficacy. The confidence that one is capable of performing in a certain manner to attain certain goals, is vital. Of course goals have to be reasonable.
- 19. Part 3 of BPS: Sociocultural dimension of health through self-management Social Support Informal care (from family) Formal care (paid helpers) Employment No formal employment, but I am an “Independent Promoter of FA Awareness” Self-management of environmental stressors: Medication management Maintain heart-healthy diet Self-management of life-stressors: Clean, healthy home Healthy relationships
- 20. Proactive Coping with an emphasis on social support This coping style involves constantly keeping busy projects and social plans Social support from friends and family Laughter Education Motivational factors Family Friends Professors
- 21. Some options to potentially delay degeneration Antioxidants such as vitamin D and E, and coenzyme Q10, may help slow symptoms Bracing or surgery to correct bone deformities If scoliosis is severe, surgery is suggested Physical and occupational therapy, (although traditional therapy is sadly not affordable if individual or his/her family is unemployed).
- 22. My own experience… I first showed very slight signs at age 5 that my mom picked up on, (she noticed mild foot deformity and walking with my feet farther apart than normal due to her physical therapy background) Before genetic testing was available, diagnosis of a degenerative disease was a relentlessly lingering "wait-and-see" game By age 9, a specialist ran a battery of neurological tests and thought I likely had FA
- 23. My progression My symptoms started having poor balance. I still played on the playground and could run a little bit until the progression worsened. I became embarrassed of my incoordination. At age 12, I used a wheelchair part-time, very reluctantly I was diagnosed with mild cardiomyopathy and had scoliosis surgery at age 14 Please understand that when an ability becomes frustrating, dangerous, and eventually impossible, one can look back and remember the hardships and challenges involved. Therefore, I try to focus on what I can do now, at this very moment.
- 24. Post-ambulatory years I started using a wheelchair full-time at age 13, convinced to do so only by many falls Until age 20, I could transfer on my own to the shower and bed I was fortunate enough to be able to drive my car for a few years in high school. Many with FA are not as lucky, since there is a high degree of variation of symptoms.
- 25. Formal social support services Personal Care Assistant (PCA) care is critical for individuals with more advanced FA Excellent PCAs, like my sister and I have, allow us to have our own lives, do things we enjoy, and help us manage medication, food preparation, and doctor’s appointments Many community-based waiver programs provide financial support to receive care, but vary by state Independent Care Waiver Program (ICWP) is the waiver program we are on
- 26. Future of FA Biomedical research needed, but scientists are hopeful Progress in treatments for FA organized by FARA (Friedreich’s Ataxia Research Alliance) : 2004--1 clinical trials, 3 potential treatments; 2010--7 clinical trials, 8 potential treatments In some cases, heart surgery, specifically ablation, may increase life-expectancy If you are interested in FARA, please go to www.cureFA.org. We need your help fundraising to expand research! And…
- 29. Promoting FA Awareness through Cinema Please watch the movie “The Cake Eaters” (2007), released on DVD March 26, 2009 Actress Kristen Stuart (from “Twilight”) plays a teenager who suffers from FA Stewart gives an amazing, very life-like performance Her character, Georgia, is at the stage of progression I was in my mid-teens
- 31. Questions? Please feel free to ask me in person or contact me at [email_address] Thank you for allowing me to promote FA Awareness!
Editor's Notes
- #31: www.theataxian.com