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I wear many hats: I’m a wife, mom, daughter, sister, friend, writer, etc. The most exhausting, constant, and thankless hat I don is that of Friedreichs ataxia (FA) patient. This hat is too big, ugly, and dominating. I don’t feel like myself in it. It doesn’t feel right on me.

When I wake up in the morning, I put on my mom hat and check the monitor to see if both kids are still asleep. Then I am immediately forced to switch to my FA hat, because I see my walker sitting by the bed and I’m reminded that I can’t function “normally” on my own. Then I have to take my medications for the FA clinical trial I am participating in (they must be taken first thing in the morning on an empty stomach).

I don’t even get one minute of bliss to forget about FA when starting my day. However, I try my hardest to get along despite FA. I choose strength every day. I choose to prioritize my other hats and not let my FA hat get pulled over my eyes.

Yet, my heart gets broken and my strength vanishes. My spirit gets zapped. All it takes is a fall to knock all my other hats off and let the FA hat overpower me. And I’m not talking about the little stumbles or “catching yourself on the (enter any solid object here)” falls that we FA patients experience constantly. I’m talking about the big, scary, out-of-control, spiraling falls that knock you flat.

This morning, I had one of those falls. I’m physically OK, as nothing is seriously injured. I was rocking my mom/maid hat, cleaning up my son’s room. With one hand on my walker, I bent down to check his frog terrarium and just spiral fell, ping-ponging all over his furniture. I banged up both forearms, my shin, my wrist, and my thigh. I’m going to have a few gnarly bruises, but no real damage was done.

The physical pain will end. The bruises will fade. It’s all part of FA. But the recovery from emotional pain is what takes the longest for me.

Falls make me feel so defeated. After a fall, I feel like no matter what I do — how well I eat, how much I exercise, how happy I act, how much I try to ignore FA, how hard I try to be “normal,” what precautions I take, how much strength I muster, how much money I raise for FA research, how many columns I write, or how hard I try to rise above — FA is winning. It’s relentless and unbeatable. It’s so massively unfair.

I know that life will get back to “normal.” The pain will fade and the hurt will subside. My self-pity will be eclipsed by something much more important and productive. But I just wanted to write this column to remind everyone that it’s OK not to be OK. It’s OK to feel your pain. It’s OK to allow yourself to have a moment in the darkness.

But it is important to seek the light again, to find hope, happiness, purpose, and laughter. You can’t live in the darkness, because then FA will truly win.

One of my favorite quotes is, “Everything will be OK in the end. If it’s not OK, it’s not the end.” Whenever I fall and sustain minor (or major, in some cases) injuries, I remind myself of this: I am OK. This isn’t the end. It’s time to press on.

I’ve decided that I will trade my worry for peace. As the book “Jesus Calling: Enjoying Peace in His Presence,” by Sarah Young, says, “You must choose whether to trust Me or to worry. Choose to trust Me, and I will trade your fear for My Peace. You will never run out of things to worry about. Choose to run to Me instead — I will never run out of Peace.”

***

Friedreich’s Ataxia News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

The post Donning My Friedreich’s Ataxia Hat appeared first on Friedreich's Ataxia News.

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My nomadic lifestyle was always something I loved about myself. For some reason, I memorized a senior quote when I was flipping through my high school yearbook. I don’t even remember whose senior quote it was, and I didn’t know why it mattered to me so much. Looking back on it now, I think it was an echo of the better parts of myself I hoped to maintain:

A nomad I will remain for life, in love with distant and uncharted places.”

I was lucky enough to have parents who enjoyed traveling with their kids, and my sisters and I looked forward to multiple trips throughout the year. Most of the time, we’d stay in the U.S., going to the beach in Alabama, snow skiing in Colorado, hiking the trails in Tennessee, or visiting Disney World in Florida. On a few trips, we left the country for Canada, France, Italy, and even Egypt. Seeing new places and being far from home was exciting for me. It seemed to be a trait I grew up nourishing.

As I grew older, the effects of Friedreich’s ataxia (FA) began to appear, and then progress. Traveling became more and more of a hassle for me. Flying in an airplane while requiring a wheelchair is indeed doable, but it is difficult. With a progressive disease, it gets ever more difficult. Still, I endured it.

“A nomad I will remain for life …”

Traveling was still worth the difficulty.

Until it wasn’t.

***

“Hey, brother.”

Jakob’s Austrian accent was obvious as he gave me his normal greeting on our Skype calls. His voice sounds like Arnold Schwarzenegger’s, but not as gruff.

“Man, I have some bad news,” I said, looking down ashamedly.

I then confessed to how, over the past week, I’d been struggling with the decision of whether to continue on a planned vacation to visit him in Vienna. Ultimately, I made the decision to cancel the plans.

I explained how hard the decision was for me, that I was afraid I was missing out on my last opportunity to travel to Europe, and how I was concerned that the progression of my FA made traveling difficult not only for me, but also for everyone traveling with me.

I explained all of this with tears in my eyes, feeling that I had given up a piece of myself that I cherished.

Little did I know, I didn’t have to explain it to Jakob. “I understand,” he said. “It’s no problem.”

Jakob has FA as well, though his is much less progressed than mine. We met online and quickly became great friends. Although Jakob loves to travel the world and knows that I’d like to do the same, he understands the implacable progression of the disorder.

Losing the ability to travel overseas is as wrenching to me as losing the ability to walk.

But Jakob’s understanding, along with our solid friendship, tells me that I may need to think about it in another way.

I’d never have become friends with Jakob, except that we both have the same rare disorder. Though FA is awful and needs to be cured and eliminated at once, to disregard the positive elements it brings — like patience, empathy, and unlikely friendships — is short-sighted.

Maybe FA didn’t take my nomadic spirit, it just changed it. Maybe even if I can’t physically travel abroad, I can still make friends in every corner of the world. Maybe even my words in this column, “Little Victories,” can reach places I cannot.

Yeah, it still hurts. I feel like a quitter who gave up on his dreams.

But I’m trying to see it differently.

A nomad I will remain for life, in love with distant and uncharted places.” —Isabelle Eberhardt

***

Friedreich’s Ataxia News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

The post Living a Nomad’s Life appeared first on Friedreich's Ataxia News.

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People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers.

But most lawmakers aren’t experts in even one well-known disease — let alone the world’s estimated 7,000 rare disorders. So how does the rare-disease community help them decide what policies to adopt?

Sanda Courbier, senior manager of the Rare Barometer Program. (Photo courtesy of Eurordis)

One way is to survey patients and caregivers about their needs, then share the results with officials so their decisions can be based on facts rather than conjecture.

For the last three years, Eurordis-Rare Diseases Europe — a Paris-based alliance of more than 800 patient organizations — has conducted the Rare Barometer Program, whose reports feature straightforward, reader-friendly analyses, and colorful graphs and charts.

More than 3,000 people, 60% of them patients, typically take part in these surveys. They represent about a third of the 10,000 patients, family members, and caregivers now in the Eurordis database.

Senior manager Sandra Courbier and research executive Erwan Berjonneau spoke about the program with BioNews Services — which publishes this website — at the Eurordis annual membership meeting, held recently in Bucharest, Romania.

“A number of politicians have quoted the results of our surveys” in pushing for specific rare disease policies, Courbier said. The reports also help researchers understand how patients want to participate in studies, including clinical trials, while raising public awareness of rare diseases.

Europeans make up the vast majority of the 10,000 people in the database, led by France (1,400) and Germany (1,000). The U.K., Spain and Italy each have 800 patients in the database. Non-European countries, such as the U.S., also are represented.

Courbier said Rare Barometer has put stringent privacy protection controls in place.

“All of the information shared with us is confidential,” she said. “It is used to create a collective analysis, and is not shared with anyone other than the Rare Barometer team.”

Eurordis also has developed relationships with universities conducting similar research. For example, she said, it is teaming up on a survey with Cardiff University in Wales.

To ensure the widest possible dissemination of results, Rare Barometer publishes its surveys and reports in 23 languages. And while it covers all rare diseases rather than selected ones, the team will break out findings on a particular disorder if a member organization requests it. It also will break out results by country, age, and other factors if a member asks for more detailed analysis.

The team conducts two to three surveys per year. One in 2017 focused on the day-to-day challenges of rare-disease patients and caregivers. One of the biggest challenges, the survey found, is an often-experienced one: requirements that patients visit multiple different healthcare, social service, and local support facilities in a short time period. Other challenges include mental health issues, and achieving a balance between work and family life.

Erwan Berjonneau, research executive of the Rare Barometer Program. (Photo courtesy of Eurordis)

A 2018 survey on attitudes of rare-disease patients toward participating in research yielded intriguing results, including the following:

  • 37% of people with rare diseases have participated in research
  • The main reason for participating is the excellent working relationship they develop with researchers
  • They want to help scientists discover treatments and therapies
  • Patients see a lack of public funding — rather than a lack of pharmaceutical industry financing — as the main obstacle to research on rare diseases

A number of Eurordis members consider the surveys such a good awareness-building tool that they put Rare Barometer graphs and charts on their websites or social-media platforms, Courbier said.

Berjonneau remembers learning from an email a year ago that the surveys not only inform those in the rare disease community, but also comfort them.

The message was from a British woman who had lost her job because of her rare disease.

When she read a Rare Barometer survey showing that this happens to many people with rare diseases, she understood that others were in similar situations, Berjonneau said.

“Once she realized she wasn’t the only one who has faced this problem, she said she didn’t feel so alone,” he said.

The post ‘Rare Barometer’ Program Helps Eurordis Shape EU Rare Disease Policy appeared first on Friedreich's Ataxia News.

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Some months ago, I went looking for a new apartment for my friend and me to rent together. Since I’m pickier than he is, we settled on a price range, and he agreed to go with a place of my choosing. My roommate is a smart guy.

In my hunt for a place to rent, I walked through a dozen or more options. During each viewing, I considered the property’s overall condition, accessibility, parking, amenities, and proximity to each of our job locations. I factored in all of the “usual” things as well as my progressive disease that wreaks havoc on my mobility.

One place that I found online was a townhouse managed by a professional rental company. They had a system in place that allowed me to book a visit to fit my schedule. I could show up at the property, send a text from my phone to confirm my GPS location, and I would receive a PIN code to access the property. I was impressed by this transparent and seemingly secure process.

When I showed up at the place, I noticed a used coffee cup from a local drive-thru at the front door, neatly tucked next to the decorative planters. I assumed that it had been left by someone who had also conducted a solo visit and didn’t see a trash can. The coffee cup was empty, so I don’t believe that it was forgotten.

This coffee cup bothered me for two reasons. First, that’s not where garbage belongs, and whoever left the cup made it someone else’s responsibility, which I thought was a cowardly way to pass the buck. Second, I realized that whoever came after me would assume that I had left it which would be a poor reflection on my character.

So, I did what any clever Gen Xer would’ve done – I hid it in a kitchen cupboard.

Not really. That was a joke.

As I was locking up the property, I picked up the cup to take with me. I hauled this abandoned piece of garbage with me for about an hour before I found a trash can.

I’m not a “save-the-planet, eliminate-waste” crime fighter. However, I become easily worked up when things aren’t “right.” Now, I know I’m not the judge of what is right and what is not, but I do feel that there are some societal norms to which most people subscribe. I believe that the consensus is that litter belongs in a waste receptacle and not on a neighbor’s front porch.

I don’t think it would have been “wrong” for me to leave it. After all, it wasn’t mine. And what if it was placed there by the homeowner? I’ve seen worse.

Unfortunately, I think many of us when faced with a similar dilemma wonder, “Is it my problem?” or “Is it my fault?” when we should be asking ourselves, “Can I make this better?” or “How can I help?”

I know “right” can be subjective in this context. When I’m trying to figure out what’s right, I often ask myself, “What would Dad do?” My father had many siblings, a couple of stepdads, and, ultimately, a single mom. He fought in Vietnam and was sent home with a Purple Heart after being shot and left for dead. After raising six children and having many career changes, he fought cancer for five years before he passed away.

He had plenty of excuses to give into victimhood or self-centeredness. However, he was a traditional man who always held the door open for others, stood up for civil rights, volunteered with youth drug and alcohol rehab programs, and advocated for the neglected and the oppressed.

I remember one time I was with him in front of a car dealership when he was helping me buy my first car. We noticed a belligerent man on the sidewalk who appeared to be taking out his anger on his female companion. My father stepped in to check on the woman and encourage the man to take a breath and walk away. He managed to defuse the situation. He did not intend to be physically threatening, but he knew that it wasn’t right for one human being to treat another that way.

While I’m not advocating that we insert ourselves into other people’s business, I am suggesting that we do the right thing. We should avoid hiding behind the excuse of “it’s none of my business.”

Although the latter may be true, doing nothing rarely makes things better.

***

Friedreich’s Ataxia News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

The post Excuses Keep Us from Doing the Right Thing appeared first on Friedreich's Ataxia News.

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On June 9, 2019, history was made on live broadcast television for the disability community. Ali Stroker became the first wheelchair user to win a Tony Award, receiving the “best featured actress” accolade for her role as Ado Annie in the Broadway revival of the musical “Oklahoma!

For those of you who are unfamiliar with the Tony Awards, it’s an annual event held to recognize excellence in Broadway productions. This year’s ceremony, the 72nd, was presented by the American Theatre Wing and The Broadway League in New York’s Radio City Music Hall.

Watching the Tony Awards is a family tradition. Musical theatre and the arts hold a special place in our hearts because of my older sister, Catherine, an actress who has performed in musical theatre and plays since she was 5 years old.

Since my 17-year-old brother Matthew and I both have Friedreich’s ataxia (FA), seeing someone with a disability win an award was meaningful.

In her acceptance speech, Ali Stroker said, “This award is for every kid who is watching tonight who has a disability, who has a limitation or a challenge, who has been waiting to see themselves represented in this arena — you are.”

I agree with her message that everyone with a disability deserves a chance to shine in the spotlight. I know what it is like to feel unimportant and hide in the dark because of FA. Having a chronic illness can make you feel isolated when you can’t keep up with others’ achievements. However, if you are good at something, you shouldn’t allow your limitations to hold you back from doing what you were born to do.

In a New York Times article, Ali said that she has always felt that she belongs on the stage. Since a car accident at age 2, she knows what it’s like to be unable to move. She spoke about the perception that she can’t dance: “Who says that dance isn’t turning on wheels? Who says dancing isn’t throwing your arms up in the air and grabbing someone else’s arms to be propelled across the stage?”

Ali Stroker has inspired me to continue following my career path in the hospitality industry. I currently use a rollator to help me to walk and keep me safe. Despite the odd and long hours and the challenges of managing a work-life balance, my job has taught me how I can be my best self to help others. I’ve found that being part of an environment that is continually changing and evolving while making a difference by serving people can be incredibly rewarding.

Matthew is completing his junior year of high school and beginning his search for colleges, and I am trying to inspire him to see the possibility of a bright future. I will miss him, but I want him to pursue his career goals because we don’t know what FA will bring. I hope to show him that he is capable and can accomplish anything to which he sets his mind. I want to remind him that FA is merely a small part of who he is.

Like Ali, I hope to use my gifts to help other people. You, too, can inspire others by showcasing your accomplishments despite your disability.

To watch Ali’s acceptance speech, click here.

***

Friedreich’s Ataxia News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

The post As a Person with a Disability, Ali Stroker’s Tony Award Win Inspired Me appeared first on Friedreich's Ataxia News.

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Dimethyl fumarate, an approved therapy for multiple sclerosis (MS), may help people with Friedreich’s ataxia by increasing the amount of frataxin protein that is deficient in these patients, an international research team has found.

This suggests that the treatment may help overcome the metabolic impairment characteristic of Friedreich’s ataxia and improve the outcomes of those affected by this rare disease.

These findings were reported in a study, “Dimethyl fumarate dosing in humans increases frataxin expression: A potential therapy for Friedreich’s Ataxia,” which was published in the journal Plos One.

Friedreich’s ataxia is a genetic disease caused by the expansion of a small DNA sequence or point mutations on the FXN gene. This leads to the production of abnormally large and non-functional frataxin proteins or impaired production of the normal version of the protein.

Although the molecular role of frataxin remains poorly understood, its loss can cause speaking difficulties, movement and heart problems, as well as serious spine and feet deformities, among other symptoms.

To overcome the molecular hallmark feature of Friedreich’s ataxia, researchers have been focused on finding safe and effective ways to increase the amount of functional frataxin protein.

A team led by researchers from University of California, Davis, showed that treatment with the approved MS therapy dimethyl fumarate, marketed as Tecfidera by Biogen, could be a potential strategy to treat patients with Friedreich’s ataxia.

Dimethyl fumarate was designed to target a protein called Nrf2, in turn boosting the activity and number of mitochondria (cells’ powerhouses), and the production of antioxidant factors.

The team analyzed the levels of frataxin protein in 14 patients with MS upon three months of treatment with Tecfidera. They found that the amount of the coding FXN gene was increased by 85.1% compared to before the treatment.

Moreover, the team evaluated the impact of dimethyl fumarate on cellular and animal models of this rare disease.

The researchers found that treatment with dimethyl fumarate could induce the production of frataxin in patient-derived cells cultured in the lab, even in the presence of the FXN expansion mutations. Also, treatment with 10 mg/kg of dimethyl fumarate could induce the production of frataxin up to 52% in cells of the cerebellum — a brain region that is most affected in Friedreich’s ataxia — of mice with the disease.

“There is a positive co-relation between Friedreich’s ataxia patient and frataxin level in the blood to age of disease onset,” the researchers wrote. So, they believe that “this modest increase in frataxin is highly clinically relevant as increase (…) by ~80% has potential to delay the age of [disease] onset by many years.”

Further analysis also revealed that the treatment could enhance the production of mitochondria by 76% in patient-derived cells, which could help support the high energy expenditure of nerve cells in these patients.

To date, more than 200,000 patients with MS and psoriasis have been treated with dimethyl fumarate, which has demonstrated that it is a safe and well-tolerated therapy.

These preclinical results, together with the therapy’s good safety profile, support its potential therapeutic use to help overcome the underlying molecular features of Friedreich’s ataxia, the researchers said.

“Since inherited deficiency in frataxin is the primary cause of Friedreich’s ataxia, and dimethyl fumarate is demonstrated to increase FXN expression in humans, dimethyl fumarate could be considered for Friedreich’s therapy,” they concluded.

The post MS Therapy Dimethyl Fumarate May Help Patients with Friedreich’s Ataxia, Study Suggests appeared first on Friedreich's Ataxia News.

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Those days were sticky hot. Or, at least, that’s how they are in my memory. I made my way to the backyard; the bright green of the summer grass gave off a sweet scent, and the nearby clothesline stood at attention, though the poles that held it up were beginning to rust.

I carried my baseball glove under my arm until I reached the yard, then slid it over my fingers. It was snug. I hadn’t bought a new glove or been on a baseball team in about four years. I hadn’t been part of any sports team in years because of my progression of Friedreich’s ataxia (FA). I had grown a lot since then, thanks to puberty.

As a lanky 15-year-old, I stood awkwardly in the stark June sunlight. My dad stood several feet away — a decent distance, but embarrassingly closer in my mind than he needed to be. I was ashamed that he had to play with extra handicaps in the game because of my decreasing dexterity and coordination.

Thanks, FA.

We began an easy game of catch. I only caught the ball about 20 percent of the time, even though my dad lobbed each throw within my reach. As my frustration grew, I wondered why I was enduring this humiliation.

I think that everyone can recognize this frustration, particularly those with FA. When our bodies don’t move as smoothly as they used to, or as our brains tell us they should, it seems reasonable to surrender to pessimistic thoughts and even give up.

It’s easy to wallow, to be held in bondage by the unfairness of FA. We can live in the gloomy echo chambers of our unhappiness and lead a bitter, fruitless life.

I know this because I still get swallowed up by these thoughts.

One way that I’ve learned to escape the melancholy mind trap is to shift the focus from my defeatist thoughts to focus on someone else.

On the man gently lobbing me the baseball on that summer day in the early 2000s.

My dad has been a constant support to me throughout my life. When I was diagnosed with FA at 10 years old, I retreated into myself to reflect on the challenges ahead.

The full reality of my diagnosis wouldn’t dawn on me until many years later — and it’s still easy to forget that I am not the only one affected, my condition also involves those who care about me.

My FA diagnosis must have torn my dad apart. As a lifelong athlete, many of his dreams for his only son were taken from him, and his interests and those of his son began to diverge. As devastating as my prognosis is for me, I need to remember that I’m not in this alone.

From a simple game of catch, to helping clean my college apartment, to bringing me to my grad school practicum the morning my ride failed to show up, to spending two weeks with me in Orlando as I trained to get a service dog, I couldn’t have done any of these without him.

To the parents of those with FA, thank you for sticking by us.

After about 40 minutes of playing catch, beads of sweat began to form on my dad’s forehead. He asked if I was ready to go back inside.

I was.

As we made our way to the house, neither of us said anything. I reverted to my old habitual thoughts: feeling ashamed that I was so bad at sports, wishing I could be better, feeling jealous of my athletic peers. The vicious cycle continued — my focus was on me.

“Thank you,” my dad said, opening the door for me as we entered the house. I was taken aback.

Maybe my feeble game of catch, though embarrassing to me, mattered to him. Perhaps the key to enjoying life with FA is not to get caught in our own stances, but to see things from others’ viewpoints.

I fudged a smile, nodded at him, and went to my bedroom, beginning to realize what really matters.

Happy Father’s Day, Dad.

***

Friedreich’s Ataxia News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

The post Playing Catch with Dad Despite My FA’s Progression appeared first on Friedreich's Ataxia News.

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We are just about halfway through 2019. I think this is a great time to evaluate my habits, my routines, and especially my goals. I usually start every calendar year with the motivation to accomplish and achieve like never before. In a lot of ways, I do achieve a lot. In some ways, though, my evaluations leave me thinking, “I wish I would have …”

This six-month review of myself has been a routine for a couple years now. I’m sometimes surprised with my personal performance, and sometimes I’m not. One thing that is never surprising is the process itself.

I know that in some areas, I am going to “win,” and in some areas, I am going to “lose.” However, I still look forward to this season of review because it’s a perfect time to recalibrate, refocus, or maybe even refine my goals. I never beat myself up for falling behind or falling off track. Instead, I view the missed targets as opportunities that I need to rethink. Rethink, not give up on.

When I talk about rethinking a goal or a priority, I’m referring to the very robust and honest internal dialogue that asks tough questions. “Is that still important to me?” “Can I achieve that if I go about it differently?” “Is my approach or time frame reasonable?” “Is it more likely to happen if I include others or ask for help?”

In addition to asking the tough questions, I make myself answer them. Thoughts and internal dialogue aren’t good enough, though. Instead, I write my answers down. I allow myself to look at and ponder the fully formed answers that I have written down. If I don’t do this, I have found that my mind will quickly accept an “excuse” camouflaged as a reason, and I may passively give up too soon.

The value of this process is so much more than just understanding where my opportunities are and celebrating my improvements. To a much more personal and significant degree, this process helps me stay aligned with my “true north” more frequently and consistently.

Before I made this halfway point in the calendar year a time for self-assessment, I found myself going one, two, sometimes many years without taking notice of my own priorities. It’s easy to say things like, “I’m going to have a six-pack stomach before summer” or “I’m going to save $2,000 toward a car,” and in the face of missed goals, it’s just as easy to say, “Oh, well, next year!”

I realized a couple years ago that I was giving up on my priorities, my goals, my true north, every time I said, “Eh, I’ll get it done next year.” What I found was that “next year” is almost the same as “never.” By putting it off, I was making excuses, accepting things at face value and not digging into the habits and disciplines needed to help me buy that new car or achieve that six-pack.

No matter what the goal or priority is, I’ve got to have a plan in order to accomplish or achieve the end result I want. Nobody accidentally takes home the gold medal or summits Mount Everest. They plan for it and execute their plans on a daily and weekly basis.

I often think about a series of commercials that Under Armour released a couple of years ago. One in particular that comes to mind features Olympian Michael Phelps and his training regimen. The commercial features the caption, “It’s what you do in the dark that puts you in the light.” In other words, it’s the disciplines you practice today that get you where you want to be tomorrow.

I may be held back a bit due to Friedreich’s ataxia, and you might be held back by a disability or a disorder, yourself. Illness, disease, and disability are things that are considerably, if not completely, out of our control. I hope that when you are performing your own evaluation, the uncontrollables are the only things that hold you back. Don’t let excuses rob you from staying on course with your true north.

***

Friedreich’s Ataxia News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

The post Reassessing Is Often Better than Surrendering appeared first on Friedreich's Ataxia News.

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I’ve had the same core group of friends for almost 10 years. We’ve been through many milestones together: First cars, proms, parties, boys, and graduation are some of the experiences we’ve shared. We’ve talked about moving in together. I’ve thought about how cool and fun it would be to share typical adult experiences with my best friends.

Well, now it’s happening! My life is turning into an episode of “Friends” and I am beyond excited. One of my closest friends is my next-door neighbor — we share a wall — and my best friend is moving into the other bedroom in my apartment.

I have always prided myself on my independence. I had roommates in college and lived with former boyfriends. Following my diagnosis, I lived with my parents before moving into my own place. I needed my own space, and it was the best decision I could have made. Having solitude and quiet at home has been beneficial for my overall health.

I needed to prove to myself that I could live entirely alone. Three years and two apartments later, I believe that I have demonstrated to myself that I can survive on my own. Despite being temporarily wheelchair-bound after tearing my ACL, and subsequently dealing with an episode of debilitating depression, I managed to figure things out. I couldn’t have done this without my mom and Nonna — it would not have been possible, physically or financially. They supported me and took care of me. Sometimes, I required help to clean up my apartment or my mom to remind me to shower. Whatever I needed, they were there — no questions asked.

To my mom and Nonna: Thank you for loving and supporting me no matter what and for always being my biggest inspirations. I love you both to the moon and back.

But now that time has passed and I know that independence is possible, I am ready for a roommate again. While there are several factors to consider and many benefits to enjoy in sharing an apartment, the biggest is having company. Though I recognize the advantages of being alone, after some time living by myself I began to feel isolated. Having no one with whom to engage in everyday conversation can get lonely. And who could be a better companion than my best friend?

I’m reassured at the thought of living with someone who understands the battles that I face with Friedreich’s ataxia. I know that I can call on my two friends if I need to. My disease’s progression has remained stable since my ACL injury, so I don’t need a roommate. But I feel good about my decision because it’s my choice. I realize that my ego and pride are involved in my search for self-validation. I think, “At least I didn’t have to.”

To say that I’m excited about the prospect of having a roommate would be an understatement. I’m looking forward to the barbecues and meals that we will cook, the therapy sessions, and random wine nights. Living as an adult with two of my closest friends is something that I had imagined, but didn’t think was possible. We talked about it, and now it’s becoming a reality. This summer is going to be one for the books!

***

Friedreich’s Ataxia News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

The post Now That I Know Independence Is Possible, I’m Ready for a Roommate appeared first on Friedreich's Ataxia News.

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Lately, I have experienced a worsening of one of my most daunting symptoms of Friedreich’s ataxia (FA). I have numbness and pain in my arms and legs, which causes restless legs at night. Unpleasant sensations in my legs create an irresistible urge to move them, making it difficult to sleep. These symptoms occur whether I am sitting or lying down. There are few things worse than lying in bed feeling extremely tired, but lacking the ability to fall asleep.

Since FA is a degenerative neuromuscular disease, FA patients may be susceptible to developing restless legs syndrome.

I have always been a night owl and had trouble falling and staying asleep as a teenager and young adult. So when I first received my diagnosis, I brought up my sleep issues with my doctor and neurologist. I had believed that my sleep problems were normal, but it turned out that I have had restless legs since before my diagnosis. My doctor suggested that I begin taking a low dose of gabapentin to help me to sleep and treat the pain.

Gabapentin is often prescribed to control seizures. It also is used to relieve nerve pain. The medication’s main side effects are drowsiness, dizziness, loss of coordination, tiredness, blurred or double vision, unusual eye movements, and shaking (tremor). But it also can cause more serious side effects, so be sure to consult your doctor before taking any medication.

I was instructed to take it at night because of the side effects.

As my FA has progressed slowly over the years, the pain in my arms and legs has worsened, making it increasingly difficult for me to get adequate rest. My lack of sleep was affecting my ability to function at work during my 40-hour week. My doctor increased the dosage of gabapentin, and this had been effective until recently.

For the past few weeks, I have experienced sharp pains shooting up from my feet into my legs. It happens around the same time at night. After a long day, I like to rest on the couch and watch TV. Unfortunately, this is when the pain strikes. My feet feel heavy and my legs feel numb; the sensation is so painful that it keeps me up at night. I have only been getting four to five hours of sleep and am completely exhausted every day. My fatigue is even more severe than the typical symptoms of FA — energy deprivation, muscle loss, and loss of coordination.

I visited my doctor, and he suggested doubling my dosage of gabapentin. I slowly increased my dosage to the prescribed amount. However, at that medication level, I became very drowsy in the mornings. Under my doctor’s guidance, I decreased the dosage again to a more manageable level.

Thankfully, my pain levels have now been reduced, and I sleep more soundly at night.

If you are living with a chronic illness such as Friedreich’s ataxia, it is crucial to communicate openly with your doctor. Keeping your doctor in the loop about changes in your disease progression and how medications are working helps them to understand your current disease status and plan for future treatment. Your relationship with your doctor should be built on honesty and trust so that you feel comfortable asking questions and confident that you fully understand your diagnosis. This will empower both parties to make smart health decisions.

***

Friedreich’s Ataxia News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

The post A Medication Dosage Adjustment Has Helped to Relieve My Restless Legs appeared first on Friedreich's Ataxia News.

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