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I am finding that change is so much easier when I tackle the changes I want to make with small, short-term goals in mind. I’ve heard that advice in the past and it’s always been a “feel-good” message. However, now I’m seeing its impact when I apply the principles of being specific and setting time limits.

I heard Dave Ramsey share on a podcast his keys for achieving goals, and I subsequently read his blog post on the subject. Two of the keys he promotes are to be specific and to set a time limit.

Lately, I’ve been bothered with my soda consumption and knowing how all that sugar keeps me from building a healthy body. The excuse of how perfectly a soda enhances a meal kept me ordering an overpriced cola every time I ate out. 

My excuses regarding my eating habits have also hindered my progress in the gym.

A few weeks ago, I finally drew a thin, somewhat faint line in the sand. I committed to a “no-fast-food July” and no soda for three weeks, leading up to a particular event that will be my reward for the discipline I’ve exercised lately.

Instant gratification

I’m sure most of us want something to change right now — or maybe by tomorrow. As much as instant gratification has taken over our society, there are still areas where only time and discipline set the stage for change.

I’d love to have $10 million in the bank, a mansion in the mountains, and a sprawling beachfront home, as well as a spouse and the average 2.5 kids. Of course, I still want my six-pack abs. But we all know those things don’t come easily.

Even if I won the lottery tomorrow, the spouse and kids take time. So do those abs.

Facing my vice

For the longest time, soda with a meal has been a vice of mine. Especially with pizza or Mexican food, nothing goes better than a good old-fashioned cola. I’ve never been one just to sip a cola on its own. I only have one with food. 

I remember participating in a clinical drug trial a few years back that required a fairly strict diet. To follow the rules, I had to cut out fast food, my typical chips and salsa snack, and a bunch of basic, processed, high-fat, unhealthy foods.

Before I knew the details, I knew this would be an adjustment. But what concerned me the most was my love of soda and my Starbucks addiction. Thankfully, beverages were not much of an issue with this particular diet protocol. I didn’t have to cut them out, I just had to cut back. In other words, I didn’t have to surrender, but I certainly had to reassess.

Cutting back was easy for me. Cutting out completely is a different story.

Small steps

Having a short-term time limit in mind and making small adjustments have been fairly easy to tackle. Granted, when I went to the movie theater and saw “Spiderman: Far From Home” last weekend, I really wanted popcorn and a Coke. As tempting as it was in the moment, I felt better leaving the theater knowing I hadn’t consumed that junk while also saving roughly $87. That’s the amount it felt like I was saving anyway.

I still have a long way to go. But by eliminating my excuses for eating or drinking poorly I have reinforced to myself that anything is possible with commitment and discipline.

***

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 Small Steps Help Curtail Excuses appeared first on Friedreich's Ataxia News.

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Since receiving my diagnosis of Friedreich’s ataxia (FA) back in 2011, I have attended two series of physical therapy sessions. I was an outpatient at the local University of Pennsylvania hospital branch in 2014 and 2017.

Initially, when I went in 2014, I wanted to familiarize myself with ways to adapt to the daily activities of life related to balance and walking, because I learned that my FA would start to slowly progress. Once I had about 10 sessions under my belt, my therapist, Elena, provided me with an at-home exercise plan. The exercises focused on improving my balance and coordination. Following this plan taught me a lot about discipline and how I could be improving my health for the better.

A few years passed, and I decided to attend physical therapy again in 2017 because my disease was progressing toward the turning point that I was dreading the most: using a walking-assistance device regularly. I set realistic goals for myself that I needed medical expertise and guidance on.

I aimed to strengthen my core to improve my balance and make walking easier, learned techniques to decrease my fatigue levels, and inquired about using a walking-assistance device like a cane or rollator. A rollator turned out to be the best fit for my health needs. I was able to practice using one in public, which helped prepare me for using it regularly.

Both of these times, I learned that it is important to make physical therapy a constant aspect of my life. It can be hard to remain on a schedule of these exercises daily and weekly, but in doing so, I am keeping all my progress and small victories alive.

Following are four key areas that physical therapy continues to keep my health stable and slows down my FA progression:

1. Stretching: I like to start off my morning and end my evening with stretches. When I wake up, my legs already seem to have lost feeling and are restless. I stretch to get the blood flowing so my legs don’t feel stiff. At nighttime after a long day, I like to stretch my legs to wind down and relax my muscles. Doing a runner’s stretch really helps at both of these times.

2. Balance exercises: Standing and completing balance exercises can be difficult for me, but it’s rewarding because I can see the progress I’ve made. Standing with my feet together, or with one foot in front of the other, for intervals of one minute can increase my ability to keep a steady balance. It also benefits me to work my hip abductors with an elastic band, strengthening my hips and legs at the same time. This is another difficult, yet rewarding, exercise. I like to do both of these exercises two to three times a week.

3. Core stability: Working the core of one’s body is essential. Exercises such as bridging and planking will help build the muscles in the trunk of the body. I strive to do three sets of 10 bridges consecutively, and I try to plank for a minute at a time. Both of these help to build strength in my core, which ultimately helps with my balance and walking. I like to do both two to three times a week.

4. Fatigue management: During my recent physical therapy sessions, I learned that fatigue management addresses the mental or physical exhaustion that prevents someone from functioning normally. In a previous column, I describe four different ways that I adapted and modified my daily routine at work. These things help me rest and recover from an eight-hour workday. Fatigue is something I try to master every day.

These four physical therapy tactics give me the momentum and strength to stay active and maintain my drive and motivation to promote my own well-being. If I don’t keep participating in these daily and weekly activities, I will lose all the progress I have made. So, as fatigued and low in energy as I may be from my disease, I need to keep moving forward!

It is important to attend physical therapy, if possible, to try to slow down the progression of FA. If you don’t know where to start, addressing the topic with your neurologist or doctor is a great first step.

***

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 4 Physical Therapy Strategies That Help Me appeared first on Friedreich's Ataxia News.

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Biomarkers for Friedreich’s ataxia (FA) may come from measurements of frataxin (FXN) levels in red blood cells and energy production in calf cells, imaging approaches in the nervous system and the heart, as well as markers of nerve cell damage, according to a review of ongoing work.

The research, “The current state of biomarker research for Friedreich’s ataxia: a report from the 2018 FARA biomarker meeting,” was published in the journal Future Science OA.

Clinical trials conducted to date in FA have been using clinical scales to measure disease progression. However, they have been conducted over a period of less than a year, which has been found to be insufficient to detect significant benefits of potential therapies on disease progression.

Having FA biomarkers may help find treatment candidates likely to be effective, which could then be tested in longer and more expensive studies. The 2018 Friedreich’s Ataxia Biomarker Meeting intended to review where biomarker development in FA stands and determine the next steps in those biomarkers’ development.

One current therapeutic strategy is to increase FXN protein levels, which are lower in these patients. A novel assay to measure active and mature isoforms (variants) of FXN may present a way to assess the effect of such treatments. The method, presented by University of Pennsylvania professor Ian Blair, intends to overcome limitations in quantifying blood FXN levels by focusing on a FXN variant called isoform E, produced in erythrocytes (red blood cells).

In unaffected controls, this isoform is found at three times the levels in erythrocytes than the normal FXN protein in other blood cells. Importantly, the team found that patients with FA have a reduction in isoform E of over 70%, which the researchers said might be “a useful biomarker in studies of FXN upregulating therapies.” Although it still requires validation, the assay may be amenable for protein measurements in muscle biopsies.

Histone deacetylase inhibitors (HDACi) have been developed to raise FXN levels, but studies have suggested that their success may depend on a balance between epigenetic changes, which refer to alterations in gene expression, rather than in the FXN gene itself. A team at the University of Oklahoma Health Sciences Center found that the degree of methylation — a type of epigenetic change, consisting of the addition of methyl chemical groups — at a key site may predict the ability to reactivate FXN gene expression.

Presented by Sanjay Bidichandani, PhD, early data in 48 FA patients revealed that lower methylation correlates with greater response to HDACi treatment in FA, and thereby may be an effective biomarker to predict who will respond to such therapies.

In turn, investigators at the University of Alabama at Birmingham have been using large-scale protein screening to study potential changes in cells called fibroblasts and in the serum of FA patients. One of the proteins found at increased levels in these patients was the ALDH1A3 enzyme, which correlated with the presence or absence of cardiomyopathy (heart muscle disease).

Also related to cardiac complications in this patient population, a group at France’s IGBMC Strasbourg found higher levels of the Gdf15 and Fgf21 genes in the heart tissue of mice, but studies to date did not find similar changes in humans.

Work at Children’s Hospital of Philadelphia has focused on metabolic changes in cells because of lower FXN levels. Experiments in adults and adolescents with FA used a technique called creatine chemical exchange saturation transfer (CrCEST) to measure energy production in calf muscle cells. Ultimately, the results suggested that this may become a longitudinal biomarker of muscle capacity in people with FA.

The same group also conducted the oral glucose tolerance test in this patient population. It revealed that people with FA but without diabetes mellitus have a higher fasting level of glucose, higher production of insulin and prolonged increase of lactate levels after the glucose load, as compared with controls.

Another approach currently used in FA biomarker research is neuroimaging. Besides biochemical changes, studies at the University of Minnesota found structural changes in patients’ cervical spinal cords. In both the spinal cord and in the brain, the experiments further showed lower nerve fiber density and diameter, as well as reduced myelin — the insulating layer of nerve fibers — in the white matter. Several of the imaging measurements correlated with the degree of disease severity.

Serum neurofilament light chain (sNfL) — a protein released by nerve cells upon damage — has been proposed as a biomarker of multiple sclerosis and spinal muscular atrophy. Two studies suggested that it could also be useful in FA, as patients had higher blood levels of sNfL than controls. Measures such as quantitative sensory testing, also presented at the meeting, showed the potential to detect changes in neurological function, but its applicability in a clinical trial remains to be demonstrated.

Cardiac biomarkers were the subject of six presentations, including both imaging technologies and serum biomarkers. One of these studies reviewed cardiac magnetic resonance imaging (cMRI), a technique feasible in most FA patients that provides data on cardiac function, structure, and volume. It has already been used in Brazil to show that FA patients have increased left ventricle mass, as well as larger fibers in the heart’s muscle, associated with worse neurological function.

Also using cMRI, scientists from the University of Florida developed a strategy called Cine-Balanced Steady State Free Precession that showed a link between early fibrosis (scarring) in the heart and cardiac outcome over time, even in patients currently without symptoms. Researchers at California-based BioMarin Pharmaceutical found that FA patients have increased levels of cardiac troponin, a well-established marker of cardiac damage during heart attacks.

Besides imaging and biochemical markers, experiments at Australia’s Melbourne School of Health Sciences revealed that dysphonia (difficulty speaking), as well as measures such as speech rate, duration, and pauses during paragraph reading correlated with neurological function in FA patients.

“Biomarker development for FA is progressing rapidly on several fronts,” the investigators said. “In the next 10 years, we anticipate many additional therapies reaching the clinic for FA, and the use of these biomarkers will enable faster trials that will give informative answers as to whether to continue development of the therapy. It is an exciting time for drug development in FA.”

The post Review Looks at Current Research into Friedreich’s Ataxia Biomarkers appeared first on Friedreich's Ataxia News.

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A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments for the 95% of such illnesses that currently don’t have one.

The European Joint Programme on Rare Diseases (EJP RD), established in January 2019, operates on a five-year budget of €101 million (about $112 million), and involves at least 130 entities in 35 countries. This includes all EU member states except for Cyprus, as well as Canada and seven EU associated members: Armenia, Georgia, Israel, Norway, Serbia, Switzerland, and Turkey.

About 55% of the total budget comes from Horizon 2020 — the EU’s €80 billion ($90 billion) research and innovation program — and the remaining 45% from member countries.

The executive committee of the European Joint Programme on Rare Diseases met recently in Brussels. (Photos courtesy of EJP RD)

“Patients with a rare disease often suffer unnecessarily and die prematurely. We need to do much more to develop effective treatments and improve diagnosis,” Carlos Moedas, the EU’s commissioner for research, science and innovation, said during a recent meeting of the International Rare Diseases Research Consortium in Brussels.

“This partnership shows how we can pool Horizon 2020 funding and resources from EU member states and beyond in order to save lives and protect people,” he said.

The new program is overseen by Inserm, the French National Institute of Health and Medical Research, and brings together hospitals, patient advocacy groups, 11 universities, and 30 funding organizations ranging from the Austrian Science Fund and Italy’s Ministry of Health, to the Swedish Research Council and the Slovak Academy of Sciences.

Patient organizations are represented in EJP RD through Paris-based Eurordis — an umbrella group composed of 862 rare disease patient groups in 70 countries — and through 24 European Reference Networks.

1,000 new therapies by 2027

Molecular biologist Daria Julkowska, PhD, coordinates the initiative. She said EJP RD was borne out of the realization that “we needed to create a real ecosystem for rare disease research in Europe” by boosting the capacity of existing research infrastructure.

Daria Julkowska, PhD

“For example, today we have patient registries, biobanks and genomics data that can be very valuable, but only if you have the possibility of connecting them together and exploiting them for research,” she told BioNews Services, publisher of this website, in a phone interview from Paris.

“Our goal is that any patient with a rare disease should receive a diagnosis within a maximum of one year, or be integrated into the research pipeline,” she said. “That’s our objective, and we hope to achieve it by 2027.”

A secondary goal, she said, is to develop 1,000 new therapies for rare diseases within the next eight years, specifically targeting those illnesses that don’t have any treatments.

Julkowska completed her studies in Poland and France, and did post-doctorate work at the Pasteur Institute. Following additional training in research management, she joined E-Rare in 2010 as a program manager, then two years later took over coordination of that specialized EU program.

Among other things, she said, the EJP RD will offer grants for research projects of up to €50,000 (about $56,000) each for patient organizations.

Unlike the patient advocate groups represented by Eurordis, the EJP RD won’t lobby governments to approve reimbursement for expensive new therapies like Spinraza (nusinersen), a Biogen therapy for spinal muscular atrophy whose U.S. retail price is $750,000 the first year and $375,000 for every year thereafter.

“Since our consortium mostly focuses on research, our primary capacity is not to dictate the rules of reimbursement for drugs. This is above our level,” Julkowska said. “What we can definitely do through our actions is finance dedicated research that would demonstrate the burden of lack of treatment for patients to use as proof for discussions with policymakers.”

The post European Initiative Targets Diagnosis, Treatment of Rare Diseases appeared first on Friedreich's Ataxia News.

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Finding a job when you are disabled is challenging. The search leads to frustration, and in my case, shame.

I couldn’t find a position, even with decent grades from college and grad school. I sent out hundreds of résumés, attended dozens of job interviews, and moved to three different cities, but I still didn’t get hired.

I became a stereotype. After grad school, I moved into my mom’s house. Thankfully, basements don’t exist in Louisiana, or the stereotype would have been complete.

Settling into my Cajun lifestyle, I faced new fears: Was I a victim, a statistic of Friedreich’s ataxia (FA)? Did my inability to find a job make me worthless?

The chattering chorus around me — on TV, in news articles, in friends’ Facebook posts where they brandish their successful careers and growing families — was inescapable. Since I couldn’t meet those goals, I gave in to despair. In those circumstances, most people do. Perhaps you feel this way.

Feeling distant from mainstream society isn’t exclusive to me, or even to the FA or disabled community. Many of us feel that we carry some painful defect within us that sets us apart from others.

Everyone finds themselves in this situation at one time or another. For whatever reason, we feel that a boundary has been placed between us and the rest of the “normal” world. At times, it’s as if we belong on the Island of Misfit Toys, from the 1964 TV movie, “Rudolph the Red-Nosed Reindeer.”

Falling into this mindset is easy. Rather than work on improving ourselves, we celebrate our brokenness. I am guilty of that. I often feel most comfortable wallowing in my darkened room, listening to sad songs on repeat. 

While I won’t say that nothing good can come from moments of struggle and self-reflection, to dwell in that state is unproductive. A hero’s story does not end when he cowers from his enemy. Your story does not close with you rusting on the Island of Misfit Toys. 

Thanks to my friend Frankie, I began writing a column for Friedreich’s Ataxia News. For this site’s publisher, BioNews Services, my disorder was not a disadvantage, but the reason I was hired. Celebrating my brokenness transformed my life; it was no longer a barrier. Now it’s a mission to advocate and encourage efforts toward a treatment or cure. 

I hope that you refuse to surrender or see yourself as a full-time citizen, or captive, on the Island of Misfit Toys. May you never let your feelings of isolation and brokenness define your life, but instead serve as a motivation to improve yourself. Allow yourself to endure hard times without surrendering to them. Stay strong and heroic.

***

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 Postcard from the Island of Misfit Toys appeared first on Friedreich's Ataxia News.

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Sometimes I wish that life would slow down, and some days, I convince myself that it will. That’s probably not true, though. I tend to take on projects and manage my calendar in seasons. This method implies that a “season” of less work and fewer projects, a period when life might slow down, is just around the corner.

Though true for some, it never seems to be a reality for me. But this is probably my own fault. I say yes to a new project or idea, and before I know it, a new thing begins before I’ve completed the current one.

A part of me works well under pressure, and I thrive by staying busy and productive. Another part of me realizes that sometimes I wear myself out and may need to listen more carefully to my body and prioritize my physical and mental needs.

I believe that I’m naturally wired to keep moving. Both of my parents were always doing something — volunteering, engaging in their photography hobby, or working in the yard or on a car. To this day, my mother finds it difficult to merely sit and relax. Not a day passes when she isn’t making progress on something in her garage or on a woodworking project.

I don’t think life will slow down by accident; as one thing ends, another shows up. I’m sure that you can relate. Have you ever told yourself you’ll do something “after I graduate,” “once I get that promotion,” or “when the kids have grown up?”

We’ve all said something similar. However, the reality is that nothing important happens by accident.

If I want life to slow down, I’m going to have to be intentional about what I choose to commit to and what I decide to avoid or delay. The same is true of staying busy — I don’t want to be active just for the sake of it. Instead, I want to be productive — for myself, and the people and the causes I believe in. It’s important for me to carefully select what receives my time and energy.

Life is short, and whether I’m staying busy or in a season of rest and rejuvenation, both have a profound impact on my life.

I still have to decide on the projects I want to commit to and those I can bypass. The choice is mine, and either one is OK.

Therein lies the challenge for me: knowing when to pick myself up and keep moving, and when to let myself stay in a season of rest. I believe that resting and producing are equally important.

The friction for most people is probably in understanding that both are valuable and OK. Whether you are resting or “doing,” allow yourself to be fully engaged in that moment or process.

Whether you’re taking action or a break, don’t let excuses or peer pressure keep you from doing what is best for you.

***

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 Choosing a Season of Rest and Rejuvenation appeared first on Friedreich's Ataxia News.

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It was a beautiful, sunny day in Southern California, and I was out with my mom and my grandma. We usually get lunch in town and hang out for a while afterward. Shopping, running errands, or visiting someone at their house — whatever we do, I love our time together. At lunch, we discussed my birthday in August and our upcoming family vacation to Italy. The topics of potential birthday gifts and assistive devices came up, and we talked about what I would be bringing on our trip.

“Francesca, we’ve spoken about getting you a new wheelchair for months. I thought you were on top of it?” my grandma said. Her words hit me right in the stomach, and my lip began to quiver. Soon my shorts were wet from the tears falling onto my lap. I struggled to reply: “Nonna, I’m not ready to accept a wheelchair from my grandma. I’m sorry. It’s a lot for me right now.” Then, the hysterical crying kicked in.

I didn’t understand why I was so emotional, why I sobbed so hard that I couldn’t catch my breath. I’ve never previously had a breakdown like that in public. My family and I have discussed my getting a new chair or scooter since we booked our trip last year. I hadn’t cried or even thought about it — so why now?

I realized that I hadn’t expected to ask my grandmother for a wheelchair. I hadn’t said it aloud to her. And I think that I underestimated the depth and seriousness of my situation. I hadn’t known that this kind of stuff could get to me anymore. I believed that I had accepted the wheelchair aspect because I use one already. However, using my chair for events and outings that require a lot of walking was a nice option — but now it’s a necessity.

My first wheelchair was given to me by my friend, Chelsie Hill. Her boyfriend, Jay, who happens to work for a wheelchair company, took my measurements and adapted the chair perfectly for me. I received a customized wheelchair and a sense of comfort in knowing that I had a chair if I needed it. I didn’t think my progression would be so fast — but now I need it more than ever.

Recognizing that I now need a wheelchair for more than attending events is hard for me to grasp. I’m finally getting a taste of what it’s like to have a slowly progressive disease — at least, the physical aspect. My realization that I could not take this vacation without the use of a chair hit me harder than I had expected. For as long as I can remember, my family has dreamed about visiting our motherland, Italy. But I hadn’t imagined that I would be disabled and require so much help while on our dream vacation.

I’m still feeling a little emotionally “hungover” following the conversation with my grandma. As I type these words, I’m fighting back the tears and feeling drained, but I know that I’ll feel better in a few days. I need some time alone to reflect on my thoughts and recharge. And write. If you have stuck with me to the end of this column, thank you for reading and allowing me to vent. Thank you for your time and willingness to understand me. I appreciate you.

***

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 Learning to Accept My Progression and Grandma’s Gift of a Wheelchair appeared first on Friedreich's Ataxia News.

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As I mentioned in my previous column, my husband, Justin, and I like to complete our weekly chore of grocery shopping early in the morning. The two main reasons we started doing this are that we get a handicapped parking spot right in front of the building and we avoid the crowds. We don’t have to walk far to get inside, the store is empty, and we can move right along. We can also take our time if we need to and avoid the anxiety of being rushed. To this day, this tactic has been very accommodating for us, and we will continue to use it.

The two grocery stores we like to go to in our Philadelphia neighborhood are Acme and Trader Joe’s. It’s nice that both locations have parking that makes the process easier. We go to Acme when we need to shop quickly, like if we have plans to go out of town for the day or weekend. We usually go to Trader Joe’s when we have the time to shop leisurely and find unique items to prepare meals for the week.

This past Saturday, Justin and I decided to go to Trader Joe’s, getting there right when the doors opened at 8 a.m. The store was already filled with people who’d had the same idea. However, we were determined to go in, embrace the crowds, and check everything off our shopping list for the week!

At first, I thought it was going to be a typical experience, but then something out of the ordinary occurred that Justin and I will never forget.

After a “supermarket sweep,” we were about to pay when we realized we had forgotten an item: the new fried mac and cheese bites, which we just couldn’t pass up! The cashier asked one of his coworkers if she could get it for us to save Justin the trip and to keep the checkout line moving. When she came back, she noticed that we were both wearing T-shirts from rideATAXIA. This nationwide program of bike rides welcomes people of all abilities to ride and raise funds for the Friedreich’s Ataxia Research Alliance, whose mission is to treat and cure Friedreich’s ataxia (FA) through research.

As soon as the woman saw the word “ataxia,” she gave us a look and said that she would be right back. A few minutes later, she returned and explained to us that someone near and dear to her heart has FA, and said the mac and cheese bites were complimentary. She placed an orange “Paid, Thank You” sticker on the box and handed the food to her coworker to place in the bag with the rest of our groceries.

As small and rare as the FA community is, the people within it are remarkable and wholehearted. It truly is the little things and small acts of kindness that mean the most by making people’s days.

It’s always important to remember to take joy in a small act of kindness. In the crazy world that we live in today, there is still hope in knowing there are good people who are trying to make a difference in others’ everyday lives. Also, it is important to be kind to others, because you never know what somebody is going through. Treat others the way you would like to be treated!

***

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 Thank You, Trader Joe’s, for the Small Act of Kindness appeared first on Friedreich's Ataxia News.

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Seelos Therapeutics received a Notice of Allowance from the United States Patent and Trademark Office covering the use of SLS-005 (trehalose) for the treatment of Friedreich’s ataxia.

A Notice of Allowance allows Seelos Therapeutics to finalize a patent for SLS-005 for the treatment of the disease.

Friedreich’s ataxia is an inherited neuromuscular disease caused by the loss or impaired activity of the frataxin protein. The disease is characterized by the accumulation of high levels of iron in certain areas of the brain, which leads to the formation of damaging reactive oxygen species (ROS) and abnormal protein aggregates that likely leads to the death of affected neurons.

SLS-005 is a disaccharide, a double sugar, whose therapeutic benefits are linked with its ability to inhibit the formation of protein aggregates and enhance cells’ natural cleaning system, called autophagy.

Autophagy is a key process used by cells to degrade damaged materials (such as abnormal protein aggregates) or material no longer required, so that they can be recycled and used in new functions.

By enhancing autophagy’s activity, more proteins are degraded, which again reduces the risk of protein aggregation. SLS-005 also increases the production of proteins that make up acidic compartments inside our cells — the lysosomes — which help degrade material no longer needed.

Importantly, the company states that the compound has been shown to cross the blood brain barrier and penetrate muscle, important for the treatment of neurological conditions.

SLS-005 has already been granted orphan drug designation by the U.S. Food and Drug Administration (FDA) and by the European Medicines Agency (EMA) for the treatment of spinocerebellar ataxia type 3 (also called Machado-Joseph disease) and oculopharyngeal muscular dystrophy, a genetic disorder characterized by slowly progressing muscle disease affecting the muscles of the upper eyelids and the throat.

Seelos is also developing SLS-005 for Sanfilippo syndrome, which comprises a group of four rare genetic disorders caused by a deficiency in one of the enzymes needed to fully break down a complex sugar molecule called heparan sulfate. This leads to the buildup of non-degraded or partially degraded heparan sulfate, particularly at the central nervous system (which comprises the brain and spinal cord), causing neurodevelopmental problems.

Orphan drug designation aims to encourage therapies for rare and serious diseases, through benefits such as seven years of market exclusivity and exemption from FDA application fees.

The post Seelos Therapeutics’ Investigational Therapy for FA Gets US Patent Protection appeared first on Friedreich's Ataxia News.

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An online friend recently commented that living with FA is a “Sisyphean dream.” I haven’t been able to stop thinking about that.

At first glance, the idea seems futile, nihilistic, and ultimately negative. However, I didn’t take it that way. Through the phrase, I see hope. Through that metaphor, I find meaning.

Let me unpack that term a bit.

Sisyphus was a king in Greek mythology sentenced to an eternity of rolling a large boulder up a hill, then watching it roll back down. He’d become increasingly exhausted, sweaty, and frustrated, but would never reach his task’s end. Sisyphus is a symbol of fruitless labor. 

Friedreich’s ataxia’s most devastating symptom, in my opinion, is its unfettered progressiveness. There is no treatment or cure, so our symptoms progress no matter what efforts we make. Because there is no stopping this locomotive of debilitation (at least not yet), any labor we undertake may seem fruitless. The dream may seem Sisyphean.

My opinion, though, is that only seeing Sisyphus as a tragic figure, a captive of inevitability, is incomplete.

Often overlooked in that story is the reason for Sisyphus’ frustrating punishment. Sisyphus was sentenced to an eternity of fruitless labor by the gods because of his cleverness: He cheated death not once, but twice! The gods chose to punish Sisyphus in the afterlife in order to discourage others from thinking outside of the norm. They didn’t want people to buck the system, so they sentenced Sisyphus to an eternity of frustration and failure.

Rather than claim that I am like Sisyphus, I hope to show that everyone battling FA is Sisyphean. The frustration we deal with every day is palpable. And even though we may see ourselves as fruitless laborers teetering on the edge of giving up, others see us as pillars of strength. Sometimes we see the truth most clearly when we see from others’ perspectives.

This dichotomy — whether to endure daily frustration or to give in and give up — is always in my head. I haven’t committed totally to one or the other. I’m still trying to figure it out.

What I refuse to do is to completely surrender. Though I become exhausted, sweaty, and frustrated, I refuse to give up. I will continue trying to eat well, exercise, go to the dentist, schedule doctor’s appointments, and remember my mental health. I refuse to believe that doing those things is fruitless. Only in doing so can we prove that our endurance is stronger than the Sisyphean dream we find ourselves living.

Never give up. Your efforts matter. You matter.

***

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 Battling Like Sisyphus appeared first on Friedreich's Ataxia News.

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