FA

Friedreich’s Ataxia

What is Friedreich’s Ataxia…In English, Please?

Friedreich’s is an autosomal recessive genetic, progressive disorder. A triplet GAA repeat prevents the body’s production of the Frataxin protein.

A normal double helix resembles a 2 ft wide staircase, linking two of the four basic amino acispiral_stairds fordna_6339076ming our DNA: Adenine (A), Guanine (G), Cytosine (C), and Thiamine (T). The GAA triplet is like sticking a 3 ft wide step in the middle. It throws off the balance of the entire staircase.

One single triplet is like a 3 ft wide step. Which makes every 3 ft wide step after that become a “repeat”.

In our case, when the DNA separates to match messenger RNA and create the Frataxin protien, the GAA triplet causes a “tangle”. The more repeats there are, the worse the tangle and the less of the protein Frataxin is made.

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mitochondriaThe mitochondria’s job is to produce ATP energy in our cells. Frataxin’s job is go to the mitochondria of the nerve cell and clean up iron deposits.

Picture the iron like piles of garbage clogging up all the space in an energy plant.  Fill it up with trash and the energy plant/mitochondria cannot produce pure, clean energy in the quantity our bodies need.

 

Okay, In Life This Means…

Slowly, our nerve cells begin to degrade. Reflexes die. Our balance deteriorates. We stumble, we fall and we drop things. Our speech slurs as if we were drunk. Our hearing and sight go wonky. Our hands and feet get really, really cold. Walking or movement becomes exhausting and dangerous, so the temptation is to do less of it. FA also affects the heart, by letting more iron build there, which brings another slew of problems. One of which is, eventually, death.

Like falling into a tar pit that begins with your toes and fingers, traveling up and in. Slowly paralyzing you until it reaches your heart. But the whole time, your mind is sharp and clear. Feeling buried alive? Alienated and alone? Yeah…

So take one of those chelator medicines that get rid of iron, right?

No.

Eliminate iron from my diet?

No.

Your body needs iron to exist. Your liver, your kidneys, your blood all need iron or you are anemic. Which can be deadly. It is only the microscopic body of the mitochondria within a microscopic nerve cell that suffers. But to get a chelator that will only effect the mitochondria means getting something that will carry it past both the inner and outer mitochondrial membranes.

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The mitochondria is a well-fortified castle. Getting inside is a tricky business.

At this time, there is no treatment or cure.

There are treatments for symptoms. Preventing muscle atrophy: massage and exercise. Pain: massage, pills. General coordination: exercise. Move it or lose it. Fatigue: CoQ10, Vit E, Ginseng and Acai Berry Extranct. Antioxidants are key.

But there is no replacement Frataxin or booster to the body’s ability to produce Frataxin. Not yet. But there are possibilities now in Phase II or III trials, so I do have hope that within my lifetime, a treatment, even a cure, can be found.

Clinical Studies Worldwide

Friedreich’s Ataxia is a recessive disease. Which means it takes both parents to carry the GAA triplet and repeats for a child to have FA. Each parent donates one strand of DNA.If they both give the child the healthy DNA  strand, the disease is not carried on. A 25% chance per child. If one parent gives a healthy strand, but the other gives the FA strand, the child becomes a carrier of FA, never showing symptoms but carrying FA to future generations. A 50% chance. If both parents give the FA strand, the child has Friedreich’s Ataxia. A 25% chance.

This is best shown by the following chart for brown eyes or blue eyes, where blue eyes are a recessive trait. The capital B would be a dominant, healthy gene and the lowercase would be Friedreich’s.

recessive eye chart

For each child they have, the couple rolls the dice and one of these four outcomes, which are really three possible outcomes, happens.

Personally, I find this a relief. For the person who has to struggle with FA on a daily basis, this struggle is only made worse if one parent can blame the other. Blame never helps. A recessive gene is no one’s fault, but in this day and age if there is any excuse to cast blame, too many people find their peace in doing so. But it’s the child who really suffers.

Often, the number of GAA triplet repeats can give an idea of how much the disease might affect a person. Because this disease progresses differently for each person, there are other factors besides these numbers that are actually more important in the progression of FA. Science only goes so far.

Living with Friedreich’s Ataxia

FA is a disease that reduces the nerves’ ability to function and communicate. Which causes a lack of reflexes, coordinaton and energy. My therapist once described this as an “energy bank account”. Each time we sleep, we get a deposit of energy. A good night’s rest, a deep-sleep nap, or sometimes, just closing our eyes and breathing deep for a few minutes.

Then, throughout the day, we have to be careful what we spend our energy on. If we overspend, we pay for it. Which means learning to set goals, prioritize, and be very, very efficient. If we deplete that energy too quickly, it can take days or weeks to recover. Doing a daily home routine was tiring, trying to scrub my entire house in one day meant no cleaning for two weeks.

At the same time, we have to choose to eliminate or minimize unnecessary energy expenditures. For instance, alcohol is great for reducing anxiety. I was told (by friends) I walked better when I was buzzed (probably because I didn’t worry about falling with every step). But alcohol also drains my energy very quickly. I get sleepy. My muscles get weak. Then there is the whole “becoming an alcoholic” thing to worry about. I decided long ago that other than the occasional drink (2x per year, not per week), alcohol isn’t worth it for me.

Being uncoordinated, we take longer to do common tasks. On an amazing day, I can type 35 wpm, for instance. On a bad day, I am afraid to find out.

Each day, we have less Frataxin, less energy, and more limits.

Friedreich’s Ataxia is a war.

Every day, every decision, is a battle in that war.

We fight for our quality of life.

If you have FA, it’s time to armor up.

Stats don’t matter…

When I was 18 and had just graduated high school, I was told I might have FA. I was then told all kinds of averages and worst case scenarios. I refused to believe it. When I was 19, I was clinically diagnosed. I was sad, but there was nothing I could do medically, so I ignored my diagnosis and went about life. When I was 20, I received the results of a blood test. But still, I was only told to “eat right, exercise and keep a positive attitude”.

Well, that was helpful.

Feeling dismissed by medicine, I went about life in the best way I could. I’m stubborn. I refuse to quit. I annoy everyone around me with those qualities. But I turned them on every area of life I found difficult. I “beat” all of those ages and percentages. Many FAers do. So the numbers are not an If/Then. They are not set in stone. They are not “should haves”, so surpassing an age with certain abilities intact is not a miracle. It’s hard friggin’ work.

Be Positive

Or hard-headed and stubborn. Know you can and try, no matter how often you’re told to let someone else do it. Or to save your energy. Or that it’s okay to be dependent. The day will come when you will have no choice but to depend on others. The more you step back, sit, depend, rest, the quicker it goes. You move it or you lose it.

People who love you and hate to see you struggle will get frustrated with you. Let them. It’s their expression of love. But don’t let it cocoon you. If you stop trying, FA progresses faster.

But, don’t overspend your energy. Let them help when you’re low. It makes them feel better, and those are the times you really need their help.

Know yourself. Understand your limits. Push your boundaries, the ones placed on what you can or can’t physically do. Refuse to give in to misery and depression. Smile instead of cry. Laugh as often as possible.

Discover your passion and let it consume you. Fuel you. Drive you. Reading, writing, art, science, nature, family, friends… Whatever it takes.

And that thing about misery loving company? It’s true. What do you think inspired my wraiths in Death is Becoming?

The further down you go, the more those who love you fall, too. So beware of how you express your anger, frustration, and bitterness. Find a healthy outlet, before you hurt and alienate all those you need.

Be positive. Surround yourself with positive people. Distance yourself from negativity. And if a close loved one is negative and you find it draining, set your boundaries. Limit your exposure to it. Because negativity leads to quitting. Not fighting. Progressing faster. Letting your disease overwhelm and crush you.

Anyone who loves you will help limit the negativity you come face to face with. Even if they are often negative themselves, they will try harder to find the positive in life. In helping you avoid negativity, they are also helped.

Eat Right

If you can avoid it, don’t gain a lot of weight. It puts extra pressure on your bones and joints. Otherwise, FA doesn’t give you food allergies. This isn’t about beauty or being a certain size or shape.

Limiting the foods that slow you down, make you tired, upset your digestive tract (from the beginning to the end), or overwhelm your heart is a good idea. It benefits you.

That means:

Primarily vegetables.

Meat is good, but know the pros/cons. I love the occasional bacon, but pork is harder for humans to digest. Turkey has tryptophan, which makes you sleepy. Beef affects your heart. Yes, my diet is mostly chicken or seafood.

Nuts are great. The fat inside them are healthy for you.

Limit sweets and caffeine.

Bread is my weakness. But I’ve learned to stick mostly to whole grain wheat. I have a weakness for French or Italian bread, so I’m not 100% perfect, but each thing I eat is a choice.

Gaining weight isn’t always a choice. I’m also hypothyroid. And while I weighed 113 lbs. when I got married, I soon learned each time I twisted an ankle or when I broke my leg, I spent so much time in recovery and unable to exercise, I gained 20 lbs. per injury.

And yet, what good is quality of life, if you’re miserable? You love cheesecake? Pie? Chocolate? French Bread? Bacon? Eat some. But be in charge of the quantities. The calories. The side effects. The occasions.

Control your food instead of letting it control you.

Exercise

Who wants to? I don’t. I’m tired. I have other things to do. Better things to spend my energy on. If I do everything my body needs in one day, that’s it. That’s my whole day and nothing else is done. No writing, no family time, no reading or crocheting.

But if I don’t, I get weaker and tomorrow is harder. My transfers from chair to wheelchair are more difficult. My muscles forget how to move together just right. Or they cramp. Charlie horses like nobody’s business. And I get tired more easily.

It makes no difference to people around me. They care. They might worry. They might even have a few extra things to do. But in the end, they will wake up tomorrow ready and able to get back at it. I, however, might not. I am the one who is either rewarded or pays for this choice.

So what exercise is best? Seriously? They all are. Find the one that interests you most and hop to it. You like dancing? Try Pilates. You like boxing? Practice at a gym or with a Tai Bo video. You want slow and gentle? Yoga, Tai Chi, or, hell, Sit and Be Fit.

I worried about the cost of martial arts at first. 19, married, pregnant, and living in my in-law’s basement, we didn’t have much money. Looking back, I wish I’d signed up and at least learned the art of falling without hurting myself.

The most basic Google (or search engine of your preference) search can find you exercises with pictures.

Use stretchy bands and hand weights. If you can’t afford it, use towels and soup cans.

Lean against the wall or sink to stretch hamstrings and Achille’s tendons. More leg and ankle exercises.

Lie flat and raise your hips. This is called Bridging.

Sit and bring your knees together.

Sit/squat against the wall with nothing under you to build hamstrings. Or do 10 squats every time you go to the bathroom. You don’t have to exercise all at once. You can break it up into segments throughout the day.

Kneel at the side of your bed, with your back and hips straightened all the way to your bent knees. Yes, pray while you are there. Prayer never hurts and often brings a sense of relief. But this is a better exercise than you can imagine.

You see, it’s like this. Remember the song you learned when you were little? The foot bone is connected to the ankle bone… The ankle bone is connected to the…

Everything is connected and works together to form certain basic movements. I hate exercise, so this took me way too long to grasp. I needed to fully understand what was at risk or it wasn’t enough to get me moving. Why are hamstrings important? What do I need the muscles of my inner thighs for? Everyone is core strength this and core strength that, so what?

Do you like to roll over in bed? This requires abdominal muscles, specifically the Obliques.

Do you want to keep your knees together so the sides of your wheelchair don’t cut into your thighs? Or so you can avoid sciatica? That’s the Piriformis muscle.

Do you want to stand to pull up your pants in the bathroom? This requires hamstrings and core strength.

Do you want to sit in only one or two chairs for the rest of your life? You need strength to transfer from any one position to another.

This is called  Quality of Life. This is why you exercise.

Hope

It’s so much work, what is the point? Why fight? Why can’t we just quit and get it over quickly?

You can quit. But there is no “quickly” with this disease. Assuming you’re not so depressed already that you commit suicide, that there is some  person or passion in your life that keeps you breathing for one more day, then there is no “quickly”. You’ll have to make the choice to quit every single day of your life. You have to lay down and stare at the ceiling…and ignore your boredom. Or stare at the TV…and ignore the itching and twitching in your legs as your nerves flare with life, then death. You have to spend hours and minutes and seconds not caring about anyone or anything.

Not the comic trying so hard to make you laugh.

Not the cute guy with the broad shoulders you can’t quit checking out.

Not the book that drew you into another world and let you be someone else for a few hours.

Remember, you’re refusing to care. Very consciously, very purposefully, very stubbornly NOT participating in life.

Or…

You can choose to hope for the treatment or cure that scientists are so close to. Someday , you’ll blast the radio and dance all over the back yard again. Some day.

Until then, you develop the inside patience and peace of the ancients. You smile so bright, no one notices that sometimes you struggle. You develop a love of doing things the hard way. Maybe even just out of contrariness. Just to bug the people who have to watch. Because sometimes, that’s fun and it makes me laugh.

You crawl across the floor because it moves and works out so many muscles, no matter how much it horrifies others or how often you’re told a walker would be so much easier to use.

You fight using adaptive aids like canes, walkers, wheelchairs and transfer poles until YOU have decided what is best for your energy limits. Because once you give into the easy way, it becomes hard to give it up. Then impossible. And you progress.

And you love.

I married.  I had children. I have grandchildren. These were choices that embodied “Quality of Life” for me.

I raised my daughters, knowing it would take a toll on my health. I was told. I was warned. I was even advised to have an abortion. (Not by a doctor.) I chose to ignore the naysayers. I could carry my birth daughter to term. I could raise both my girls to adulthood. I was stubborn. I believed in myself. I took the risk. They were worth it.

I focused on my marriage, because my husband is worth it. He’s the man that suddenly blurts out how beautiful or sexy I am on the days, in the middle of situations where I am dropping things, feeling fat, fighting tears, blowing my nose. Seriously, how could I not love a man like that?

I focused on writing Romance. Because I believe in love. Because I think finding the right partner to stand by your side, even through our daughter’s brain tumor diagnosis and subsequent year and a half of chemo, even through each step of my FA progression, is one of the most crucial elements in Quality of Life. And because writing is the best way to be heard and understood.

Love sustains you. Focus, interests, passions, goals. They drive you. They show you a picture of your future that involves much more than your FA. And they make you want to be strong when that future arrives.

That is hope.

The International Literary Project to Fight Friedreich’s Ataxia

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17 writers from around the world, 15 who have FA. Spanish, Portuguese, English, Italian. Together with interpreters from even more languages, we volunteered and did what no one has ever done. Typing even as slow as 12 words per minute, using internet translators to communicate, we wrote one novel. The story of The Legacy of Marie Schlau. You might wonder who she is.

She is us.

The Legacy of Marie Schlau is an international, multi-generational murder mystery. Friedreich’s Ataxia impacts two of the main characters in the novel and we are able to see the history and progression of the disease, how it was discovered, how many alternative therapies have been tried over the years, and the differences people experience in facing life with FA.

But what lies at the heart of this novel is in the characters, the people. What they experience, how they feel, not just with the disease, but within the social structures of their time periods. Economics, politics, social injustices, all of it culminates in a powerful story that journeys between 1830 and 2013.

What is the true legacy of Marie Schlau? Is it that a woman who many thought would/should never have a child, created a living branch of her family tree? Is it that Marie, who suffered this disease before it even had a name, passed it along to a future generation? Is it the mystery of how Marie truly died? Or is her true legacy the strength and passion with which she lived?

El Legado de Marie Schlau is available in Spanish in print format at Amazon.

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The Legacy of Marie Schlau will become available in English, in print and electronic format, by Christmas 2014.

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Much thanks and eternal gratitude to our gifted cover designer, James Wafer.

Our volunteer translators are standing by to translate the novel into German, French, Portuguese, Italian and more.

All proceeds go to research. We are determined to find the cure for Friedreich’s Ataxia.

To reach us on Facebook go to: FightFriedreichsAtaxia

To support us, post any of these images on your website and link them to our book, and/or our page. Tweet, blog, like, share, Google+ or add it to your newsletter. Buy the books as gifts. Collect every language. Please, spread awareness any way you can!

Thank you!

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Resources

BabelFAmily
http://www.babelfamily.org/en/
– The best place to find news of FA from all around the world, in every language.

 Friedreich’s Ataxia Research Alliance
– A great resource for fundraising, clinical trial info and registry.
 National Institute of Neurological Disorders and Stroke
– A great resource for clinical trial info.
Muscular Dystrophy Assosiation
 – Great to learn info about FA
 
Friedreich’s Ataxia Scientific News
– Very Scientific, but up to date and informative.
 
International Network of Ataxia Friends
– A great place for fellowship and finding friends and support networks online

Social Media Groups

Living with Ataxia- http://www.livingwithataxia.org/

Facebook Groups – Just search

For Parents and Loved Ones

This one is a struggle for me to write. I know what I want for me. As a person with FA. But every person with FA is different. I know anything you have the ability to research, organize or help with is great. I depend on my husband to save me from using the phone whenever I am feeling anti-social. He also makes appointments for me and oversees transportation issues, many of which never occur to me as a possible issue.

Mostly, I advise:

Be patient. We aren’t late on purpose. Sometimes, time slips by. Sometimes we are struggling with something like clothes or gathering something. Allow plenty of time to get ready to leave. The less rush the better, unless you want an emotional outburst. Impatience with our fumbling hurts, in ways even I can’t express well. We are impatient with ourselves, upset with our own clumsiness. A peaceful morning can become an emotional storm in the flash of a moment.

Be positive. Your negativity influences us, deepening our depression. Your positive outlook can bring us up when we are down.

Don’t gossip about us. This drives me insane. If I want someone to know I am using my new walker, I will tell them. If I don’t know them, or their knowledge of my walker is not necessary, it’s gossip. If it’s your closest friend and you need an outlet, fine. If it’s family and you’re keeping them  updated, fine. If it’s a doctor or someone somehow regarding FA, fine. If it’s the secretary in the business down the street and you are waiting to talk to the boss, it’s gossip. If it’s anyone I have objected to knowing things about me, then respect my wishes.

Let me struggle. If I haven’t asked for help. Haven’t looked at you helplessly. Then don’t help. Even if my struggle makes me tired. Even if, in your eyes, it’s needless. Even when you just want to make things easier. Helping me is not helping me. It’s making yourself feel better while making me feel useless and dependent. I appreciate strangers holding open doors at the store. Let them do their good deed and walk away with a smile. But if I’m home and I am determined to aim my reacher/grabber for the medicine bottle I dropped, I don’t care if it takes 100 misses and 10 more drops, let me struggle until I am ready to give up.

Allow me independence for as long as possible. This might sound like Let me struggle, but it’s more than that. If I can hop in my scooter and go grocery shopping, banking or tool around the mall myself, let me. I don’t get freedom from my body, but my mind is unlimited. My spirit needs to feel unlimited, too.

Let me be in control. Control is an illusion. I know that. I depend on my loved ones for everything, it seems. My body forces me to give up control over too many things. Personally, I save my control issues for my writing. I am totally in charge there. I don’t care what I wear or what I eat, as long as I’m not naked in public and uncomfortably hungry. I decide what’s important to me. But someone without that outlet, might need to control their clothes, food, environment, time, schedule, exercise regimen, etc. When I feel things are out of control, I crack down. I’m 40 years old. I can do that. But younger FAers might struggle, so be sensitive to it. It might save you a headache later.

Let me grow. I was diagnosed as an adult, after I was living on my own. I struggled enough with concerned parents and elders from a distance. I was going to doctors and being tested 3 years before diagnosis, however. I was pushed out of the hospital room so the doctor could speak to my guardian in private. Um, no. My health is my business. I have to learn how to manage it. Just like I had to learn how to manage a family, a career, doing my taxes, etc. You don’t help by doing it for me. You stunt my growth.

Don’t Be a Drama Queen. The news is upsetting at first. Finding a new “Normal” is difficult. But the sooner you can, the sooner I can. I don’t know what it’s like to hop in the car and drive myself to work for the day. So what? No one I know is happy about doing so unless they are being sarcastic. There are certain joys in life that I will never have and you mourn that experience for me. That’s sweet. Really. But that does not mean my life is joyless. It does not mean I have lost the chance to experience many amazing things. It doesn’t mean I am dying tomorrow. It doesn’t mean you need to start mourning me today. Save it for my funeral, when that day comes. I was diagnosed 20 years ago, so if your loved one was diagnosed today and it takes them 20 years, you’re going to have really dry eyes and a sore throat for a long time.

But even if it goes fast and there’s only 5 years, do you want your memories of that time to be depressing and sad? There are so many ways to handle it. Like Jenna and Dan Haley, the couple who started a bucket list for their unborn son after he was diagnosed with anencephaly.

 

Exaggeration is not your right. A broken limb is not an amputated one. Being unable to tell what leg is on top under the blanket does not mean your FAer is “numb” or “unable to feel anything”. Having a hard time grasping things or continually dropping them, does not mean they were “tossed across the room”. And getting an EKG and Stress Test for a possible heart attack is not “at death’s door”.

Okay, I exaggerated. I was never accused of having an amputated limb.