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Today’s post was originally going to be called What To Eat Wednesday, where I would talk about foods I eat while following a Paleo lifestyle. After conferring with Miss Stephanie, however, I decided there is enough info out there in the blogosphere about food and recipes in general, and that I could do the most good and help more folks by talking about the health issues we share, and what can be done about them.
For instance, I have PKD- so maybe sharing details about it could help someone else with it.
Stephanie has a rare form of Muscular Dystrophy called Friedreich’s Ataxia- I could explain some things about what she goes through and how that might help others.
My husband has recently been diagnosed with stage 1 Prostate cancer- again, I could talk about how we arrived at this and how early detection might save another man’s life.
You get the picture, however, I want your feedback so I know how to help you as well. It seems we all have something or know someone who has something that affects us on a daily basis. How do we best deal with it? What are the best ways to treat it? What do you want to know more about or what can you share with me that readers might benefit from?
Say you have diabetes or know someone who does. I want your questions about that. I want to know how I can assist you, or someone you love. Maybe through my research, we will all learn something useful about conditions we didn’t even know existed. Before I met Miss Stephanie, I had never heard of FA. Now I’m learning all about it. In her case, diabetes is a side effect. It is a mystery she herself is still trying to figure out and deal with. Together, we work on her diet to find out what works to keep her numbers low. She also has heart problems because of her disease, eye problems that make her vision “snowy” and loss of balance and coordination. Are there others out there that may benefit from knowing these details? Probably.
That’s why I need your help. You tell me what you want me to cover on the blog. What do you want to know more about, or what questions may I help you get an answer to?
So, with all that being said, today I will discuss some aspects of FA in an effort to explain what someone else might be noticing in their child, or just to know what Miss Stephanie deals with every day.
Friedreich’s Ataxia is named is named after the German physician that first discussed it in the 1800’s. It is an autosomal recessive inherited disease that causes progressive damage to the nervous system. It strikes approximately 1 in 50,000 and manifests in initial symptoms of poor coordination such as gait disturbance. It does not affect cognitive function but can lead to heart disease, scoliosis, and diabetes. Stephanie has all of these problems which require her to use a wheelchair, she also needs assistance with feeding, dressing and bathing, making her totally dependent on others to function.
The Ataxia of FA results from the degeneration of nervous tissue in the spinal cord, in particular sensory neurons essential (through connections with the cerebellum) for directing muscle movement through the arms and legs. The spinal cord becomes thinner and nerve cells lose some of their myelin sheath ( the insulating covering that helps conduct nerve impulses). In Stephanie’s case as well as others, symptoms began early in life, between 5-15, and began with muscle weakness in the arms and legs, loss of coordination, vision and hearing impairment, slurred speech, curvature of the spine, a deformity of the feet called pes cavus- or high plantar arches and carbohydrate intolerance (diabetes), though about 10% of those diagnosed develop type 2 diabetes). The heart disorders are atrial fibrillation and resultant tachycardia (fast heart rate) and hypertrophic cardiomyopathy.
It presents before 22 years of age with progressive staggering and frequent falling. Lower extremities are more severely involved. The symptoms are slow and progressive and after 10-15 years with the disease, patients are usually wheelchair bound and require assistance with all activities of daily living.
So, if your child is experiencing any of these symptoms, you need to get medical assistance. It is not their fault, they are born with this genetic problem. They cannot help it if they are stumbling or suddenly lose the ability to hold a spoon and feed themselves. You will require the assistance of many doctors, including but not limited to a pediatrician, cardiologist, nutritionist, neurologist, optometrist, ophthalmologist, and other specialists to deal with all of the conditions it causes. You will also need help from therapists, aides and caregivers, since managing all of these issues can be stressful on the family as a whole.
Since the cognitive function is still in tact however, patients can and do get involved in the treatment process, attend school, manage their social life, use the computer, watch television, read, and otherwise interact with caregivers and parents, doctors and aides, attend church and other places, go to the store, enjoy cultural events and even go on cruises! Stephanie is witty, funny and charming, loves almost everyone she meets and is loved in return. She deals with a lot of problems but remains strong in her faith and is thankful for what she can do and doesn’t focus on what she can’t. She helps with running the blog set up by Camp Craig Allen, an organization who provides a place where children and adults with disabilities can go for fun, and therapeutic activities.
Stephanie put herself through college and managed for many years on her own, however, she had to move back in with her parents when the disease progressed to the point she could not function without 24/7 care. They reached out for assistance through a government agency called CLASS, who helped with issues like obtaining caregivers and medical equipment.
My hope is that the information I’ve shared here can help someone else who may be dealing with issues like Stephanie’s, and if you have questions, feel free to ask them. What I don’t know how to answer, Stephanie can fill in the blanks. She is extremely knowledgeable and wants to help others learn more about her disease.