31-year old Keisha Greaves of Cambridge, Mass., lives her life with flair.

With a degree in fashion design and merchandising, this fashionista lives and breathes style. Keisha, who has a subtype-unknown form of limb-girdle muscular dystrophy (LGMD), uses her fashion background to bring together two of her favorite passions: clothing design and advocacy.

When she is not working as a merchandise coordinator for apparel company Tommy John, Keisha spends her time developing inspiring clothing designs for her t-shirt line, Chronically Girls Rock. She also travels her home state educating people about neuromuscular diseases as MDA’s Massachusetts State Ambassador.

Unknown, but not alone

Fashion has always been a major part of Keisha’s life; LGMD on the other hand, has not. It wasn’t until Keisha was 24, while she was getting a graduate degree in business management, that she started experiencing muscle weakness for the first time.

“I was walking and my leg randomly gave out,” Keisha says. “At the time, I was heavier, so I thought perhaps I needed to lose a few pounds, no big deal. Then I began to have trouble raising my right arm, so I saw an orthopedist [in Boston]. He was amazed I couldn’t lift my arm, so he sent me to a neurologist.”

After visiting another Boston-area hospital, Keisha was diagnosed with a form of LGMD, although a specific subtype for her disease could not be determined, even after genetic testing. To this day, Keisha does not know her subtype; however, she knows that even without a more specific diagnosis, she is still part of a community of similar patients.

“I would like to eventually get the right type, but there are others out there [without a specific LGMD subtype], and we are part of a Facebook support group.”
Over the next few years, the progression of her condition became more pronounced, especially considering what she was formerly able to do.

“I could walk up 5-6 flights of stairs okay,” recalls Keisha. “I played in a softball league in middle school. I wasn’t a professional softball player or anything, but I was able to run.”

Today, Keisha uses a cane to get around, but she is determined to maintain her current level of strength.

“I do physical therapy at Spaulding Hospital [in Boston] and stay active, with exercises, swimming and walking. I try to keep my legs active and do as much as I can, while being careful that I don’t overwork myself. I take it day-by -day.”

And, in true fashionista form, her cane is not just a mobility aid; it is also a fashion statement.

“I have a different cane for different outfits,” she says with a laugh. “I go with the flow.”

MDA Advocate

Today, as a merchandise coordinator for Tommy John, Keisha travels to department stores all over the Boston area, checking in on the how the product line is selling. Although it is tiring to be on her feet most of the day, the work is very rewarding.

“The sales staff [at each store] is very generous and helpful doing things like bringing out back stock,” she says.

Outside of work, in addition to launching her t-shirt line, which features edgy slogans and designs meant to inspire anyone living with a chronic disease, Keisha has taken an active role in connecting with other people living with muscular dystrophy in the Boston area through social media, helping to plan trips such as a night out at Dave and Buster’s.

“It helps bring the young adults in the area together. We all support each other, even if some may not want to talk about [their situation].”

She has also blogged about living with LGMD for The Mighty.

This year, Keisha is sharing her experience with an even wider audience, as MDA State Ambassador for Massachusetts. She is the first young adult to hold the role. So far, she has had the opportunity to attend the MDA Muscle Team event in Boston and speak at the New England Fill the Boot Camp for fire fighters.

Keisha is excited about the opportunity to spread her message of perseverance at events and businesses throughout Massachusetts. Reflecting on her journey, she offers a closing piece of advice for anyone newly diagnosed with an adult-onset muscle disease:

“You have to stay strong and know that you may not be the only one dealing with this, that you are not the only one out there. We are all out here and support each other, we are all one, and will get through this together.”

The post Raising Awareness for MDA in Her Own Fashion: Massachusetts State Ambassador Keisha Greaves Advocates in Style appeared first on MDA.

Muscular dystrophy is a term that refers to a number of diseases that cause progressive loss of muscle mass resulting in weakness and, sometimes, loss of mobility.

There are many different kinds of muscular dystrophy, each affecting different groups of muscles. In some types of muscular dystrophy, symptoms begin in childhood. In other forms, symptom onset doesn’t occur until adulthood.

Each of the different types of muscular dystrophy is caused by a mutation, or flaw, in a gene that interferes with the production of proteins needed to form and maintain healthy muscle. Such mutations may result in cells manufacturing a defective form of a particular protein, or insufficient (or completely absent) levels of that protein.

Muscular dystrophy affects everyday activities

Children born with severe forms of muscular dystrophy may never gain the ability to walk or achieve other developmental milestones. Some older children and adults who develop muscular dystrophy may eventually lose the ability to walk and will need to use a scooter or wheelchair to help maintain mobility and independence. Some may have trouble breathing, which may require the use of a ventilator to help maintain respiratory function. Others may experience weakness with the muscles involved in swallowing; this can cause nutritional problems that may be alleviated with diet modification and/or the use of a feeding tube.

Depending on the type, muscular dystrophy may involve intellectual disabilities, learning disabilities, eye defects or seizures.

Other complications can include:

• Contractures. The shortening of muscles or tendons around jointscan further limit mobility that already is impaired by muscle weakness.
• Scoliosis. A curvature in the spine can occur when weakened muscles are unable to hold the spine straight.
• Heart problems. Muscular dystrophy can cause changes to the heart muscle that reduce its efficiency.

There is no cure for muscular dystrophy. But medications and therapy can help manage some symptoms and potentially slow the course of the disease.

When to seek medical advice

Talk with your pediatrician if you notice a lack of muscle tone (called hypotonia) in infants. Additionally, you should let your doctor know if your infant or toddler experiences delays in meeting motor milestones — such as rolling over, sitting up or walking — or fails to meet them at all.

Signs of muscle weakness — such as increased clumsiness and falling — in yourself or your child also may be cause for concern.

You can also give our MDA Resource Center a call if you’re looking for one-on-one support at 800-572-1717.

Sign up to learn more about how you can help those with muscle debilitating  diseases live longer and grow stronger.

The post Simply Stated: What is Muscular Dystrophy? appeared first on MDA.

Melanie Carson has peered into the Grand Canyon and craned her neck looking up at the giant Redwoods of Northern California. She’s felt the mist of waterfalls in Hawaii and gazed at Yosemite’s Half Dome.

She’s done it all, and wants to do more. That’s all while living with a rare type of Limb-girdle muscular dystrophy. It’s called Miyoshi myopathy, or Limb-girdle muscular dystrophy type 2B.

Melanie first started experiencing symptoms at just 19 years old.

“My main symptoms were that I was just really, really fatigued all the time,” she says. “I just didn’t feel well. I was in pain a lot of the time.”

She discovered that she couldn’t raise herself onto her toes — a classic sign of Miyoshi myopathy — her ankles were weak, and her feet always hurt.

Over the next 10 years, she was diagnosed with everything under the sun — except Miyoshi myopathy. Melanie saw doctor after doctor and took drug after drug. She got foot surgery that she didn’t need. No diagnosis seemed to fit quite right, and no treatment seemed to be working. In fact, some treatments made her condition worse when they were supposed to make it better.

Finally, after genetic testing was done, Melanie received her Miyoshi myopathy diagnosis.

The call came a week before her birthday. Melanie vividly remembers answering her phone while standing outside a shoe store, where she was about to spend cash she got as a birthday present.

As she listened to what the doctors were saying, she looked into the shop’s window. Staring back at her was a display full of high heels that she knew she couldn’t wear now and, considering the caller’s news, she realized she had no chance of ever wearing.

She was disappointed, sad and scared, but there was something else too.

“I remember standing there and I was not happy, but I was relieved, because at least now I could put a name to something, put a name to all the issues I was having,” she says.

Melanie was also determined to do something about it.

“Instead of sitting there and wallowing and feeling bad about myself,” she says, “why not go out there?”

So, she started an MDA Muscle Walk team.

One of Melanie’s friends came up with the team’s name — Melanie’s Indomitable Will. It suits her perfectly.

“We kind of came out of the gate running,” she says. “I’m a very motivated person, so I was like, if I’m going to do this, I’m really going to do this. I’m really going to commit.”

That first year, in 2013, Melanie and her Indomitable Will raised nearly $4,000 with the Rhode Island Muscle Walk.

Since then, her team has raised more than $30,000.

“I actually felt that maybe this will help me, too, but I started feeling passionate about raising money for all the other people who had it much worse than me,” she says, explaining that while she’s still walking and her heart works fine, others with muscular dystrophy are not in the same position. “In a sense, if I was going to have muscular dystrophy, I got lucky.”

Lucky or not, the progression of disease is different for everyone. She’s already having trouble getting around, and she knows she might not have much more time to walk to the edge of the Grand Canyon or stand on her own two feet under a Hawaiian waterfall. Or even walk on her own in the Muscle Walk.

“After I finally got the diagnosis and I knew that there was no chance it was a misdiagnosis, which is kind of hard to do when you’re looking into DNA,” she says, “I started to realize what was going to happen and what could happen and what might not but probably will happen. I decided that I’ve been kind of living my life being scared.”

She decided to change that. Not long after her diagnosis, she visited Niagara Falls with her husband and then went sky diving.

“I would absolutely go back,” she says of jumping out of a plane. “It was so much fun.”

Melanie is living unlimited and she’s loving it.

“The way that I feel like I live unlimited is honestly, in general, I don’t use my Miyoshi myopathy as an excuse to not do anything anymore,” Melanie says, explaining that she also works full-time. “I don’t use how I feel or my inability to do something to not achieve something.”

Next on her bucket list are visiting Utah and traveling to Australia and New Zealand. With her indomitable will, she’s sure to make it happen.

“I don’t want to be held back from anything,” Melanie says.

Want to join in the MDA Muscle Walk fun this fall?

The post Woman with Miyoshi myopathy Works Hard, Plays Hard and Muscle Walks With All Her Heart appeared first on MDA.

As Father’s Day approaches this year I find myself confronting an oxymoron of epic proportions: three decades of fatherhood seem to flash by in moments that will last forever.

It actually reminds me of one my favorite quotes from the philosopher Kierkegaard: “Life can only be understood backwards; but it must be lived forwards.” It really speaks to the power of looking back at your life at certain events and moments and understanding them better in hindsight.

In reflecting on my life as a father who lives with limb girdle muscular dystrophy, I’ve come to realize that those of us with disabilities do a lot of thinking and planning. How will we get there? Can I do it? Will it work? All of us must plan, but people living with neuromuscular diseases that can take away the everyday freedoms to walk, dance or hug our loved ones must be expert planners. We spend a lot of time understanding our capabilities and limits so we can find a way to get things done.

But fatherhood has taught me not to be afraid to try new things. We have become so good at knowing ourselves and planning, but we may find even greater success and achievement ahead when we let go a little.

Letting go certainly has been a theme this year. I have three children, a 32-year-old son, Ralph, living in Wisconsin and identical twin girls Francesca and Marcella, living in Chicago and Los Angeles, respectively. I consider myself very fortunate because my children were all in their 20s before I even started having symptoms and noticeable muscle loss associated with my LGMD2L onset. Up until that time, I worked close to home — I even came home for lunch often — and was able to catch almost every game of basketball, baseball, softball, volleyball and whatever else was on the agenda in school.Now, with my kids grown and my LGMD affecting me more and more, at age 58 I spend most of my time doing a small amount of clinical counseling while also working on a variety of issues affecting those of us with disabilities.

But it is my role as father that I cherish above all, and this year I achieved a special dad milestone: I walked my daughter down the aisle at her wedding on April 22. That walk was a bit of a worry for me, I’ll admit. Marcella and Brandon were engaged for 18 months, and that long lead-up had me thinking a lot about where I might be in terms of my leg strength on the big day. I worried, too, I wouldn’t be able to dance with my daughter.

The wedding was perfect. I was able to walk Marcella down the entire aisle with the help of my cane – but, looking back, I probably could have gotten by without it if not for the strong fear of falling. I smile now to think of how often I worried about being on the floor halfway down the aisle. And as for our dance, it, too, was perfect. We did a minute by ourselves and then had the crowd join in.

At Marcella and Brandon’s wedding, I made a small speech before my toast. I spoke about how, when my babies were maybe 10 years old, I read them Hemingway’s The Old Man and the Sea, a few pages at a time each night. It was an emotional book, especially at the end, as Santiago, the old Cuban fisherman, tries to make the impossible walk back up the beach in his weakened and exhausted physical condition.

Ten years after I read that book to my girls, Marcella had a line from the book tattooed on her back: “Everything about him was old except his eyes and they were the same color as the sea and were cheerful and undefeated.”

The line, to me, speaks to so much of the love and passion we can all find in life no matter our circumstances. It also has special resonance now as I reflect on the joy of fatherhood. The final three words, “cheerful and undefeated,” speak directly to me, and to all of us living with a neuromuscular disease. We will stay strong!

Ralph Yaniz is a former regional vice president for AARP and is currently a licensed clinical counselor. He worked his entire career in the nonprofit arena in mental health and aging, and he led major advocacy efforts in Illinois. Ralph also helped start a cancer foundation in Florida that provides bilingual assistance in English and Spanish. He is a member of MDA’s National Community Advisory Committee.

The post A Father’s Celebration appeared first on MDA.

In 2004, Monkol Lek was at a crossroads.

As a 24-year-old living in his native Australia and working as a security professional at IBM, Monkol found himself increasingly affected by the symptoms of a then-undiagnosed subtype of limb-girdle muscular dystrophy (LGMD). The frustration of not having a confirmed genetic diagnosis and the lack of answers provided by his neurologist at every six month check-up motivated him to re-evaluate his career trajectory.

“My degree was in computer engineering,” Monkol says. “I thought, here I am working so hard, but work wasn’t making me happy. I kept thinking about my disease and wanting to know why I didn’t have a genetic diagnosis, and why it was so hard to find the gene. How would my disease progress? And how could I help in this process?”

Determined to find these answers, Monkol left his job at IBM, re-enrolled at his alma mater, the University of New South Wales (UNSW), and continued his education, shifting gears to learn the science behind his disease.

Thirteen years later, equipped with two additional bachelor’s degrees and a Ph.D., Monkol, now 38, is a promising muscle disease researcher at the Broad Institute of MIT and Harvard, located in Cambridge, Mass. In December 2017, he will be moving to New Haven, Conn., to establish his own lab at the Yale School of Medicine, teaching and training the next generation of scientists.

Although Monkol finally has a genetic diagnosis — LGMD type 2G — he remembers what it feels like to be undiagnosed with only a vague understanding of his disease. This experience has motivated him to dedicate his career to help others searching for a definitive diagnosis.

Early Years

In 1981, the Lek family fled Cambodia’s civil war and settled in Australia as refugees. The youngest of seven children, Monkol and his family moved to the working-class suburbs of Sydney, where he grew up. Throughout his childhood, he was asymptomatic until age 19, when he first started to notice muscle fatigue in his legs.

“I was going to UNSW at the time and was having a hard time going up stairs at the train station,” Monkol says. “I was standing for long periods of time and had to take the bus an hour-and-a-half each day. I would come home tired and exhausted, and the muscles in my legs really ached.”

Concerned, Monkol went to a few different doctors who didn’t think much of his condition, until one doctor decided to take a blood test. “This one doctor took a blood test, looked at my creatine kinase levels, saw that they were really high and asked if I ran a marathon,” Monkol recalls. “He said something was really wrong with me and suggested I go see a neurologist.”

Two years later, a neurologist diagnosed Monkol with a form of LGMD, although the exact type was unknown. Even after a muscle biopsy in his thigh, they could not pinpoint exactly what type of LGMD he had. He had a clinical diagnosis but not a genetic one.

His symptoms were consistent with one of his older sisters, 10 years his senior. “I never thought that I might have her disease too, mainly because I didn’t have a genetics background,” Monkol says. “It’s not something I thought about. In retrospect, it should have just clicked.”

In addition to not knowing what type of muscle disease he and his sister had, Monkol grew increasingly frustrated with the lack of meaningful information provided at his checkups. “I went to see a neurologist every six months,” says Monkol, “and the doctor would do the same things each time — muscle strength tests and things like that. I was frustrated every time. They’d take notes, talk about how my disease was progressing and at the end tell me I’m getting weaker, and that was it.”

At a Crossroads

This frustration went on for several years. Although Monkol enjoyed working at IBM, he decided to dedicate his career to finding answers to his questions. In 2004, at age 24, he re-enrolled at UNSW, intent on building the skills necessary to understand the genetic underpinning of his disease.

He went back to school and graduated with degrees in bioinformatics and physiology from UNSW. After, he decided to continue his education, enrolling in a Ph.D. program in medicine at the University of Sydney to research the genetics of muscle strength and performance. His choice of school was deliberate. The University of Sydney’s diagnostics lab happened to be looking for the very gene that caused his disease. “You want researchers to think a lot about your disease, not every six months,” says Monkol. “I figured, why not do my Ph.D. there?”

In the final year of his program, Monkol received the news he had been waiting for. “They found my disease-causing gene,” he remembers. “It was called TCAP.” Although Monkol was excited to finally have a genetic diagnosis of his LGMD subtype, he knew there were many people throughout the world who were still struggling to find a diagnosis for their own conditions. He wanted to be the one to help provide those answers.

Moving to the USA

After graduating with his Ph.D., Monkol was interested in continuing his collaboration with Daniel MacArthur, his colleague and mentor at the University of Sydney. Daniel had recently moved to the United States to establish a rare genetic diseases lab at the Broad Institute of MIT and Harvard, a research institution in Cambridge, Mass. The Broad Institute is affiliated with five Harvard teaching hospitals, including Brigham and Women’s Hospital (site of an MDA Care Center) and Massachusetts General Hospital (site of an MDA Care Center and MDA ALS Care Center).

While in Cambridge to interview, Monkol was struck by a museum exhibit in the lobby of the Broad Institute building. “In the lobby was a machine — a museum piece — a next-generation sequencer, used to sequence human DNA. It was the best sequencer that we had in Sydney, and here they were using it as a museum piece! I knew I had to come here.”

Soon after, Monkol made the decision to join the MacArthur Lab and moved to the United States with his wife, Angela, also a muscle disease researcher. As Monkol began his work, Angela found a position with Dr. Louis Kunkel at his lab at Boston Children’s Hospital (also the site of an MDA Care Center). Kunkel — a longtime MDA-funded researcher — helped discover the dystrophin gene 30 years ago.

Angela’s support and caregiving have been essential in allowing Monkol to move to a new country and thrive in his research. “Angela is not just a talented scientist; she also has made a lot of sacrifices to support me in many daily things that I struggle with,” he says.

Finding Answers for Others

Although living halfway around the world from where he grew up, Monkol remained as motivated as ever to work on research near to his heart — helping individuals attain a definitive diagnosis.

To do this, Monkol and team use cutting-edge technology to perform exome sequencing — in short, sequencing genes simultaneously to find rare variants that cause disease.

Over the last four years, the lab’s success rate has hovered around 50 percent in diagnosing the genetic cause of individuals’ diseases, providing answers to many families around the world from as far away as Azerbaijan and Russia. For many individuals and families, the lab’s work has helped to give them peace of mind and hope.

A New Chapter

The last few years in MacArthur’s lab at the Broad Institute have been tremendously gratifying for Monkol, validating his decision so many years ago to enter the scientific field. He realizes how lucky he is to be in this position. “If we stayed in Cambodia, I could have been a farm boy looking for answers for my muscle weakness. ”

Although Monkol is proud of his work, he wants to help all undiagnosed individuals, including those who couldn’t get an answer from his exome sequencing research.

As a result, starting in December, Monkol will be establishing his very own lab at Yale University. One of the lab’s main goals is to continue his work in exome and genome sequencing to find disease-causing mutations in hard-to-diagnose cases. Of special focus are patients in underserved populations, such as in East Asia, whose mutations and incidence rates are not as well-known in the general literature as those of Europeans.

Much of the research that Monkol has worked on in his career has been funded and supported by MDA.“I want to thank MDA for their generous support with my MDA/AANEM Development Grant for a project aimed at improving the diagnosis of rare muscle diseases, which has supported my transition to becoming an independent investigator,” he says.

Because his lab is brand new, Monkol is actively recruiting postdoctoral fellows and graduate students. In addition to the job’s technical aspects, Monkol has a particular type of scientist he wants to work alongside.

“I want researchers who have the same passion as me, who don’t see it as just a 9 to 5 job. I want researchers who work all week for a particular result, that when they get it, they get so excited that they lose track of time,” he says.

“They are the people I want to work with and who also inspire me.”

The post Researcher with LGMD Aims to Bring Genetic Diagnoses to People Around the World appeared first on MDA.

This time of year, as kids begin to head back to school, I’m reminded of my own educational journey. I faced my share of setbacks, but I’m proud of all I achieved.

Living with limb-girdle muscular dystrophy (LGMD) is a challenge, but it didn’t stop me from enrolling in college right out of high school, as I was eager to be independent at 18. After trying to balance school and work, I resorted to what paid the bills. However, after two years near the bottom rung of the corporate ladder, it was clear a college degree would hasten the climb. So I picked up the books, rekindled my love for school and headed back to campus to pursue a degree.

In my last semester, while earning enough credits to get me two associate degrees and transfer to a university, I was blessed with news that I was pregnant. But this also presented another potential challenge: How would I attempt this crazy juggling act of being a mother with a progressive muscular condition continuing an education?

To be a full-time mom or to continue with college? This was the question I faced at the age of 26. I was enthusiastic, but I was also aware of the physical challenges that being pregnant and having increasing mobility issues could present. I had no doubt that I could raise a child, but could I aid in the development of another while I enhanced my development as well?

Putting those thoughts aside, I finished up my semester and graduated with my AA just in the nick of time to bring my daughter into the world. I took one semester off to savor motherhood, a new phase of my life that taught me new lessons, tested me in myriad ways and gave me a whole new wealth of knowledge. Realizing that my future now directly affected another, I turned my attention to getting my BA and applied to a university close to home, which would allow me to stay close to my support system to enhance my chances of success in college. Unfortunately, I learned I was one credit short of the transfer requirement. So I enrolled in an online hybrid class that met on campus once a week for an hour.

What initially felt like yet another setback turned out to allow me additional time with my baby, which worked better for us, as nursing was a priority. I even incorporated my daughter into my studies. Reading aloud to her helped me remember what I read and encouraged her speech and language development. I did homework during her naps and incorporated learning while we played. With some more tricks and the support of family, we got through our first part-time college semester together. After that, I reapplied to the university and was elated to be accepted.

The financial aid I received to continue my education required full-time enrollment. But those years also coincided with my daughter’s development stages of improved locomotion and cognition strides, which meant increased ability to get into mischief and need for attention, demanding more of my time. With careful planning, we found what worked for us. The university had its own children’s center on campus, and when a rare spot opened up my daughter began her own educational journey in early preschool.

After two years I graduated with my bachelor’s degree in psychology and my little one graduated onto kindergarten, all on the same day. Achieving that goal was such an accomplishment for me because there had been many roadblocks that seemed like dead ends. But I rerouted and allowed myself time to find another way. I refused to let my daughter see me give up.

It is my responsibility to be a good example for her, and my experience will allow me to push my girl further in life without excuses. I am a big believer in the importance of education to increase quality of life. I am fortunate to have found a way to become a mom and a scholar. If anyone else is wondering if getting an education while living with a neuromuscular disease and raising a family is possible, I hope they consider their situation, review their options and find resources that will help. Remember not to let doubt hold you back from becoming all that you want to be. Just do what works for you. I challenged myself, worked hard, and it’s paying off. Now for the next goal: grad school.

Pearl Burgin is a loving mom and San Diego State University student. She has a B.S. in psychology and aspires to attain a master’s degree in rehabilitation counseling so she can serve the uniquely abled community by empowering their dreams. She is living with limb-girdle muscular dystrophyand is a newer wheelchair user and says she’s “lovin’ it!” She also serves on MDA’s National Community Advisory Committee.

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The post Becoming a Scholar and a Mother: Reflections from a Student with LGMD appeared first on MDA.

In 2015, with support from Sanofi Genzyme, MDA launched the limb-girdle muscular dystrophy (LGMD) genetic testing program in partnership with EGL Genetics. Since then, more than 2,800 people have submitted DNA samples through MDA Care Centers and MDA Care Affiliates to EGL Genetics for testing.

Through this program, individuals with limb-girdle muscle weakness can be tested to find out if they have one of the known subtypes of LGMD or any of a number of other disorders that can sometimes cause similar symptoms (such as Emery-Dreifuss muscular dystrophy or Bethlem myopathy, for example).

The test is an important first step for anyone living with limb-girdle muscle weakness who has not received a definitive genetic diagnosis. That’s why MDA and Sanofi Genzyme are proud to work together to continue offering MDA’s LGMD genetic testing program.

Continue reading below for answers to some of the most common questions about the testing program, LGMD and MDA.

What is the LGMD genetic testing program?

MDA’s LGMD genetic testing program is designed to help determine specific types of LGMD or to help diagnose related diseases that sometimes may be mistaken for LGMD.

Why is it important to get a genetic diagnosis?

Genetic testing is important because a definitive diagnosis is the first step to effectively managing an individual’s neuromuscular disease. It can ensure the most appropriate treatment strategy, best outcomes and access to clinical trials or disease-specific patient registries.

How much will it cost to have genetic testing done?

Genetic testing is costly and not always covered by insurance, but through MDA’s LGMD testing program, we are able to help more individuals receive a confirmed genetic diagnosis at no cost.

Will my insurance be billed for the test?

No, your insurance will not be billed for this test. All testing costs will be covered by the Sanofi Genzyme grant supporting this program. Individuals and families will not incur any additional cost for genetic testing through this program.

How is the LGMD genetic test performed?

The simple test requires only a saliva or blood sample, which can be collected at any one of MDA’s Care Centers or Care Affiliates or by your local physician. From there, it is sent to EGL Genetics, and within three to four weeks, results are returned to the physician, who then shares the findings with individuals and their families.

What can the test identify?

Test results can help identify whether an individual has one of the known subtypes of LGMD or one of a number of other neuromuscular diseases that can present with similar symptoms.

What will I need to do?

If you suspect you may have limb-girdle muscle weakness but do not have a confirmed genetic diagnosis, speak with your physician. Schedule an appointment at your local MDA Care Center, Care Affiliate or with your local physician to complete the testing, which requires only a single saliva or blood sample. You also can reach out to your local MDA Family Care Specialist to inquire about the testing process.

If I have already participated in the testing program, can I retest if I did not get a definitive result?

At this time, the program is only open to individuals who have not previously submitted DNA samples for testing.

What if I have questions about the testing process or about results?

Be sure to consult with your physician or genetic counselor if you have questions about the testing process or about results. Once a person undergoes the testing, results are returned to the physician within three to four weeks. The physician will then share the findings with the individual and their family.

Must I be registered with MDA to qualify to be tested?

You must be registered with MDA to receive MDA’s LGMD genetic testing service. To register, contact the MDA National Resource Center at 800-572-1717 or resourcecenter@mdausa.org.

What is limb-girdle muscular dystrophy (LGMD)?

LGMD is a diverse group of disorders with many subtypes categorized by disease gene and inheritance. LGMD usually manifests in the proximal muscles around the hips and shoulders. The shoulder girdle is the bony structure that surrounds the shoulder area, and the pelvic girdle is the bony structure surrounding the hips. Collectively, these are called the limb girdles, and it is the observed weakness and atrophy (wasting) of the muscles connected to the limb girdles that has given this group of diseases its name.

What causes LGMD?

Genes are the codes, or recipes, that cells use to manufacture the various proteins needed by the body. The genes associated with LGMD normally encode proteins that play vital roles in muscle function, regulation and repair. When one of these genes contains a mutation (a flaw, such as missing or incorrect information) cells cannot produce the proteins needed for healthy muscles.

There are two major groups of LGMDs. Called LGMD1 and LGMD2, these two groups are classified by the respective inheritance patterns: autosomal dominant and autosomal recessive. If one copy of the abnormal gene is sufficient to cause the disease, it is said to be autosomal dominant; if two copies are needed then the inheritance pattern is autosomal recessive. For more details on the various inheritance patterns, see the NIH Genetics Home Reference.

Dozens of different genes, when mutated, have been shown to cause specific LGMD1 and LGMD2 subtypes. In these cases, the proteins associated with these genes are nonfunctional or deficient, and muscles are unable to function normally. Gradually, the muscles become weak enough that people experience the symptoms of limb-girdle muscular dystrophy.

In addition to the known LGMD1 and LGMD2 subtypes linked to specific genes, there are many cases of LGMD where the causative gene is not yet known (and the person is not identified to have a subtype-specific form of LGMD). Scientists are actively working to understand the causes of these unidentified subtypes of LGMD, because the more we understand about all the different causes of LGMD and the diverse ways that muscle can be compromised, the better chance we have of finding effective therapies to intervene in the pathological process.

What are the symptoms of LGMD?

The unifying features of the LGMDs are the weakness and atrophy of the limb-girdle muscles.  However, the age at which symptoms appear, and the speed and severity of disease progression can vary.

Individuals may first notice a problem when they begin to walk with a “waddling” gait because of weakness of the hip and leg muscles. They may have trouble getting out of chairs, rising from a toilet seat or climbing stairs. As this weakness progresses, the person may require the use of assistive mobility devices.

Weakness in the shoulder area may make reaching over the head, holding the arms outstretched or carrying heavy objects difficult. It may become increasingly hard to keep the arms above the head for such activities as combing one’s hair or arranging things on a high shelf. Some people find it harder to type on a computer or other keyboard and may even have trouble feeding themselves.

Some of the various LGMD subtypes also are characterized by additional symptoms. For example, the heart can be affected in some types of LGMD, with weakness of the heart muscle (cardiomyopathy) and/or abnormal transmission of signals that regulate the heartbeat (conduction abnormalities or arrhythmias).

Some disease subtypes also involve the muscles involved with breathing, and for that reason, respiratory function, along with cardiac function, should be monitored regularly.

Other symptoms may be present in some of the different subtypes of LGMD, including but not limited to: joint stiffness, muscle cramps, enlargement of calf muscles and involvement of distal muscles of the body such as those controlling the hands and feet.

What has MDA done to support people living with LGMD today?

• MDA is proud of our decades-long approach to providing coordinated expert care through our nationwide network of more than 150 MDA Care Centers.
• We have facilitated direct patient care to tens of thousands of individuals living with LGMD for more than half a century.
• MDA is committed to continuing to increase quality and standards of care, and is proud of its ongoing collaborative efforts with policymakers and stakeholders in the neuromuscular and rare disease community, and beyond, to ensure that every effort possible is made to free individuals — and the families who love them — from the harmful effects of LGMD and related neuromuscular diseases.
• MDA convenes annual conferences, where leading scientists, researchers and medical professionals specializing in neuromuscular disease confer and collaborate with the aim of accelerating scientific discoveries, drug development and clinical care.
• We provide support and services to help improve quality of life and help our families thrive, including MDA Summer Camp for kids with LGMD and related neuromuscular diseases, the MDA’s National Resource Center, and educational events and materials.

How has MDA been involved in LGMD research?

MDA’s fingerprints are on nearly every major advance in neuromuscular disease research, with MDA-sponsored research having resulted in breakthroughs for treating diseases, and in increasing survival and quality of life.

MDA has invested more than $1 billion in neuromuscular disease research grants since 1950, with more than $57 million dedicated to research for LGMD.

Over the last five years, MDA has spent nearly $17 million on LGMD research.

For more information

To find an MDA Care Center near you, visit mda.org and type your state or ZIP code in the box and select “Find MDA in Your Community.”

For questions and one-on-one support with one of our trained resource specialists, contact the MDA National Resource Center at 800-572-1717 or resourcecenter@mdausa.org.

To read about one individual’s experience with the LGMD genetic testing program, see Genetic Testing Provides Answers and Hope.

MDA is grateful to Sanofi Genzyme for its support of our LGMD awareness activities and the testing program.

The post LGMD Genetic Testing Program: What You Need to Know appeared first on MDA.

Marshall Hogarth, postdoctoral fellow at Children’s Research Institute, Children’s National Health System in Washington, D.C., was awarded an MDA development grant totaling $180,000 over three years to improve understanding of the molecular and cellular basis of the fatty replacement of muscle in type 2B limb-girdle muscular dystrophy (LGMD) as well as in Miyoshi myopathy.

If successful, Hogarth’s work could enable therapeutic development to slow or block disease progression by preventing muscle loss.

Please describe your current research in LGMD.

Limb-girdle muscular dystrophy type 2B (LGMD2B) is a progressive muscle-wasting disease caused by mutations in the gene coding for the dysferlin protein. Gradual replacement of muscle with fat is a feature of the pathology in both LGMD2B patients and mice with insufficient levels of dysferlin. Loss of muscle function in LGMD2B patients and mice is correlated with the fatty conversion of muscle, which suggests that the processes leading to fatty muscle conversion are significant to disease pathogenesis and are thus potential therapeutic targets. However, little is known about the mechanism of the fatty conversion and how the absence of dysferlin protein disposes muscle into this pathway.

Using a mouse model of dysferlin-deficiency we have mimicked age and injury-induced fatty conversion and degeneration of muscle observed in LGMD2B patients. Further, we have developed a new mouse model where fatty conversion and muscle dysfunction associated with dysferlin deficiency has been attenuated. Using these tools, we will decipher the cellular mechanism underlying the fatty replacement of LGMD2B muscle and identify approaches to prevent this process to improve loss of muscle function in LGMD2B.

Is this your first MDA grant?

This is my first MDA grant, and it is difficult to overstate how much it means to me. A career in academic research has long been a dream and something I have worked hard towards, but the transition from postdoctoral research to an independent investigator is tremendously difficult for all young scientists. Hence, I’m extremely grateful to MDA for their support in providing an opportunity for me to chase my dreams.

What is your focus within the LGMD field and why is it important?

I’m interested in understanding the basis for the age-dependent muscle loss, specifically with regards to the relevance of this process to LGMD2B where appearance of intramuscular fat and replacement of myofibers correlates with the onset and progression of disease in patients.

Fatty replacement of muscle has been observed due to ageing and injury, but this is greatly enhanced in dysferlinopathic muscle. However, there is little understanding of the molecular and cellular basis of this process and consequently it is unclear how one can intervene to prevent it. My work focuses on addressing this lack of understanding and could provide avenues to halt or slow this aspect of the pathology.

Why is it important that MDA continue to fund research in LGMD and Miyoshi myopathy?

There is still considerable unmet need in understanding dysferlinopathy and there are no treatment options available. Exciting progress is being made in this area, and continued funding by MDA is critical to ensure that this momentum is maintained and translated into clinical benefits.

What do you feel people impacted by these diseases can have the most hope about with respect to research right now?

The late onset of clinical symptoms is the most puzzling aspect associated with the dysferlinopathies. Understanding the pathological mechanisms which underpins this and discovering avenues to intervene in the process will be of great benefit to patients, clinicians and researchers.

Does your work have any potential implications for other disease fields?

Fatty replacement of muscle is associated with a number of different diseases, including other muscular dystrophies, denervation/disuse atrophy, sarcopenia and chronic obesity. The biological mechanism we are investigating stands to provide insight into how these processes are activated and may lead to muscle loss in these other disease conditions.

Learn more about MDA’s LGMD genetic testing program.

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To learn more about how MDA research is accelerating treatments and cures for LGMD and Miyoshi myopathy, please visit mda.org.

The post Five Questions with Researcher Marshall Hogarth appeared first on MDA.

September 30 is Limb Girdle Muscular Dystrophy Awareness Day, and in many ways I am honored to be doing something that I hope will help all of us affected by the many forms of this type of muscular dystrophy. I began to have symptoms of my subtype, LGMD2L, at age 47, and while the progression has been relatively slow, over a dozen years I have definitely seen the wasting away of key muscles.

Despite the disease’s toll, I have continued to be active, and I have especially enjoyed my role on MDA’s National Community Advisory Committee. This has allowed me to get a greater understanding of the work being done by MDA in so many areas, both nationally and locally.

The most exciting learning for me was the amount of funding that MDA provides to so many great researchers across the country, researchers that are looking at a variety of illnesses. I know that LGMD2L is rarer, has a later onset in terms of age and wasn’t even discovered or identified until 2010. (In fact, MDA-supported researchers were behind that important advance, as well.*) Because of these reasons and others, the scientific community hasn’t yet seen a lot of funding earmarked specifically for LGMD2L.

And this is where MDA came through. I read that MDA had awarded funding to Dr. Criss Hartzell, PhD to look specifically at treatments for LGMD2L. Dr. Hartzell does his work at Emory University in Atlanta. I reached out to him to explore how I could help his work. This led to a year of preparation for what happened earlier this month.

I was able to set a three-way call with Dr. Hartzell and my neuromuscular specialist, Dr. Matthew Wicklund, now at the University of Colorado, Denver. We began to research my specific form of the 2L illness, and we concluded I would be a good cell donor. This led me to, ironically, during the month that we designate for LGMD awareness, schedule muscle and skin biopsies so that I could be a part of ongoing research into my disease subtype.

When the day arrived, I was grateful to be attended to by a truly international team of experts. They said that I had more people in the room than for any biopsy they have ever had. It took about two hours, and the doctors used only local anesthesia, which was nice because I was able to talk with the team throughout the process.

They collected one skin specimen and two muscle specimens. Dr. Hyojung Choo from Emory University took my specimens, put them on ice and ran to the airport. She personally transported the skin specimen and one of the muscle specimens to Atlanta. The other muscle specimen stayed at UC Denver for viewing and freezing for the future.

These specimens will be used for years as my cells are harvested and experimented with. As I said at the beginning, I am honored to be at the cutting edge, quite literally, as a patient.

As we look ahead, I want to thank MDA for their foresight and help, and I know that the research funds granted to Dr. Hartzell will lead to exciting new findings. The future is looking brighter as we continue to work together, raise much needed funds and search for treatments and cures.

To a better future!

* Two MDA grants to Bernard Brais resulted in the discovery and characterization of the ANO5 gene as the cause of LGMD2L: in 2005, MDA awarded Brais $180,000 for “Cloning and characterization of the mutated gene responsible for a new form of recessive LGMD;” in 2009, Brais received $168,000 to study “Characterization of the function of TMEM16E/ANO5 gene mutated in LGMD2L.”

Ralph Yaniz is a former regional vice president for AARP and is currently a licensed clinical counselor. He worked his entire career in the nonprofit arena in mental health and aging, and he led major advocacy efforts in Illinois. Ralph also helped start a cancer foundation in Florida that provides bilingual assistance in English and Spanish. He is a member of MDA’s National Community Advisory Committee.

Learn more about MDA’s LGMD genetic testing program.

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The post I am on the Cutting Edge, Literally, of LGMD Research appeared first on MDA.

Tobie Roberts, an up-and-coming fashion designer with a passion for bridal, pageant and prom gowns, knows the importance of creating garments that make women feel confident and beautiful. Equally as important, Tobie, who lives with limb-girdle muscular dystrophy (LGMD), knows the importance of making these designs accessible, inclusive and easy to wear.

“I started sewing at 10 years old and made my first garment in eighth grade. In college I discovered my love for bridal wear and haute couture,” shares Tobie.

Tobie’s undeniable talent and love for high fashion even landed her a spot in an elite design program in France, where she visited the workshops that create the clothing for designer powerhouse labels Dior and Chanel.

Now in her senior year at Stephens College in Columbia, Missouri, Tobie is not only working on finishing her degree but also designing wedding gowns for her own line, Tobie Marie, an inclusive bridal wear company that caters to women of all sizes, shapes, and abilities.

“My sister’s wedding dress was the first thing I designed for someone with LGMD,” says Tobie, whose mother, grandmother and sister all live with different forms of the disease.

“My sister has a weak back and weak calves so I had the challenge of designing her the big beautiful ball gown she had always wanted but making it light and easy enough for her to move in,” shares Tobie.

Prior to creating her sister’s wedding dress, Tobie had already designed an accessible collection for a scholarship she earned through the Council of Fashion Designers of America, Inc. (CFDA). The project was based around inclusive clothing, and she focused on garments that were functional, comfortable and geared toward seated positions.

As a part of her senior collection, Tobie is currently designing two wedding dresses, both for women with spinal muscular atrophy (SMA).

“I want to give these women exactly what they want. I want them to feel amazing on their wedding days but I also want to meet their expectations throughout the fitting process,” shares Tobie.

“I’ve been interviewing people with disabilities across the country on what they did and didn’t like about shopping for wedding dresses and so far I’ve found out these women have felt unwanted and underappreciated at the bridal stores they went to. They did, however, appreciate shops that were accessible and where staff really listened to them during their fitting experience,” says Tobie.

Tobie hopes to one day open her own bridal store and focus on dresses for women with disabilities, since it’s difficult to find places that do cater to those different needs.

Until then, Tobie will remain busy with an invitation to share her designs at New York Children’s Fashion Week and preparing for The Collections, Stephens College’s annual fashion show, this spring.

“Fashion is an outlet for change. Designers need to work through their fashion to create a better society through inclusion, diversity and understanding. Love, beauty and happiness is open for everyone, and I hope through my fashion, we can make a change in the current stigma,” shares Tobie.

Help kids and adults like Tobie continue to live longer and grow stronger.

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The post Up and Coming Fashion Designer with LGMD Thrives appeared first on MDA.

George Wood is the official taste-tester for the annual MasterVac Industrial Services Jambalaya Benefit in Baton Rouge, La. He picks the best pot — one of many made up by his dad, Damon, MasterVac co-owner, and the business’ employees — each year.

The benefit is in honor of George, who lives with limb-girdle muscular dystrophy (LGMD), and other kids like him.

“We’ve been doing our benefit for 13 years now, and in our best year raised $15,000,” says Monika Wood, George’s mom. “We couldn’t help George, and felt helpless. There is no treatment or cure for limb-girdle muscular dystrophy. All we could do was try to raise money for MDA hoping one day for a treatment or cure for all children and adults affected by muscular dystrophy.”

George, 16 years old now, started physical therapy at 2 months old after presenting hypotonia, or low muscle tone. He didn’t begin walking until 12 days before his second birthday; a muscle biopsy led to a diagnosis of LGMD.

George’s doctor immediately put the Wood family in contact with their local MDA office. They became involved with MDA’s telethon, and they started their own benefit through Your Way for MDA.

“We never wanted another family to go through having to hear a doctor tell you that your child has MD and life is going to be very difficult for him,” Monika says.

The Woods make a lot of jambalaya. This year, they had 10 large pots of it, plus pots of white beans — even with an unexpected pot theft. Someone stole one of MasterVac’s custom jambalaya pots and burners a few weeks before the benefit this year, but thanks to local news coverage, the pot was located at a pawnshop and returned. A local hardware store donated a replacement pot, too.

Event chefs served up 2,000 plates of jambalaya, raising $13,000.

Monika’s advice to others thinking of starting their own MDA fundraisers?

“You can be creative,” she says. “Get your child involved. Of course, we have amazing volunteers. Every [MasterVac] employee helps out and they look forward to it every year. Helping a charity like MDA just makes people feel good.”

Join the Wood family in the quest to help kids and adults living with neuromuscular diseases live longer and grow stronger.

YOUR WAY FOR MDA 

The post Louisiana Family Puts Their Own Spin on MDA Fundraising appeared first on MDA.

When Andrew Boychuk was in his early to mid-teens, he started experiencing unexplained muscle weakness. A few years after that, his doctors determined he had a form of muscular dystrophy, and then he received a diagnosis of limb-girdle muscular dystrophy (LGMD).

Although he was experiencing physical symptoms and eventually reduced mobility, Andrew went about living his life. Now retired, Andrew, 56, practiced law for many years, focusing mostly on corporate law. About 10 years ago, he began freelance writing and has done work for Yanni, a contemporary musician, composer and record producer.

Four years ago, Andrew and his wife, Pam, moved to Palm City, Fla., and that’s when he contacted MDA. From there, the local MDA staff connected Andrew with the MDA Care Center team at the Kessenich Family Center at the University of Miami.

And at that point, nearly 40 years after his initial LGMD diagnosis, he learned about MDA’s LGMD genetic testing program.

“Everyone at MDA has been just awesome,” Andrew says. “They were the ones who told me about [the testing] and arranged everything for me.”

In 2016, Andrew underwent genetic testing, which is provided at no cost to individuals and families who are registered with MDA, and learned his disease subtype: LGMD2A.

“Knowing the subtype has been a tremendous help and is important for several reasons,” says Andrew, who uses a power wheelchair for mobility. “I’m 56 years old and until the test was done, I had no idea what type I really had. I have two children, and we now understand how the disease is passed on and the risk of their future kids inheriting the disease. It also helps to know whether there are any new treatments or therapies that may be beneficial for me. Along those lines, I now understand how the disease is likely to progress and what my family and I can expect health-wise in the future.”

In 2015, with support from Sanofi Genzyme, MDA launched the LGMD genetic testing program in partnership with EGL Genetics. Since then, more than 2,800 people have submitted DNA samples through MDA Care Centers and MDA Care Affiliates to EGL Genetics for testing.

Through the program, individuals with limb-girdle muscle weakness can be tested to find out if they have one of the known subtypes of LGMD or any of a number of other disorders that can sometimes cause similar symptoms.

Genetic testing is important because a definitive diagnosis is the first step to effectively managing an individual’s neuromuscular disease. It can ensure the most appropriate treatment strategy, best outcomes and access to clinical trials or disease-specific patient registries.

The simple test requires only a saliva or blood sample that can be collected at any one of MDA’s Care Centers or Care Affiliates or by your local physician. From there, it is sent to EGL Genetics, and within three to four weeks, results are returned.

Individuals interested in learning more about genetic testing are encouraged to reach out to their local MDA office, where MDA Family Care Specialists like Karina Lambertini, who helped Andrew through the testing process, can discuss testing options.

“Making a difference in our families’ lives every day became real to me when I heard that Andrew was able to obtain a confirmation of his diagnosis through our MDA Care Center at the University of Miami and our free LGMD genetic test,” Karina says. “We guided him from the beginning, and it makes me so happy knowing that he will now be able to be part of clinical trials.”

Andrew has never let LGMD get in the way of pursuing his professional and personal goals. But he’s grateful for MDA’s testing program because he is now armed with critical information about his condition, and he doesn’t have to guess anymore about what exactly is causing his muscles to deteriorate.

“It isn’t always easy, but life is beautiful and really anything is possible,” Andrew says. “No one should put limits on themselves or let anyone else define them.”

To find an MDA Care Center near you, click here. Go to the “Find MDA in Your Community” box, and type your state or ZIP code. For questions and one-on-one support with one of our trained resource specialists, contact the MDA National Resource Center at 800-572-1717 or resourcecenter@mdausa.org.

Learn more about MDA’s LGMD genetic testing program.

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The post Genetic Testing: Knowledge is Power appeared first on MDA.

With nearly ten years of experience under his belt, senior software engineer at Microsoft Chris Schlechty, who lives with limb-girdle muscular dystrophy (LGMD) has become an expert in his field. Within that same time period, he has also become an expert in knowing what accommodations he needs to be successful in the workplace.

“It’s been easy to ask for accommodations at Microsoft. When I shared my list of accommodations, my main focus was getting a work station that suited me as well as making sure the tables I used were the right height. Microsoft also had an occupational therapist do an ergonomics evaluation to make sure that everything was correct for me. I also have flexible work hours and the ability to work from home,” says Chris.

Chris has always loved math, science and computer games and knew from a young age that he wanted to work in the tech industry. In high school Chris joined the DO – IT Scholars program, which helps students with disabilities learn about self-advocacy in the work place and encourages them to pursue internships and careers in STEM.

From encouragement through this program, Chris applied for an internship with Microsoft and landed gigs with Microsoft twice: once after his senior year of high school and another one later in his college career.

After earning his degree in computer science from the University of Washington, Chris began working full time at Microsoft and has been there ever since.

Now, fully immersed in his career, Chris encourages students who live with disabilities to pursue higher education and challenging careers.

“If you’re really passionate about something there is probably a way to make what you want to do work,” shares Chris.

A bit newer to the team at Microsoft is Sean Marihugh, who lives with Becker muscular dystrophy (BMD) and works on the product accessibility team. In his role Sean, provides tech support to customers who live with disabilities.

“It’s a great way to interface with customers. I’m able to get feedback on what is and what isn’t working and share that information with our product engineering teams,” shares Sean.

Sean learned about career opportunities at Microsoft while in school at the University of Washington, meeting people who worked both in and out of the accessibility field. Though he began his career at a different organization he kept in touch with one of his contacts from Microsoft, who would eventually tell Sean to apply for his current role. Sean has now been with Microsoft two and a half years.

While Sean has not requested any workplace accommodations, he believes that it’s important to request accommodations if you do need them.

“It will make you more successful in your career to ask for what you need to succeed. Knowing and owning what tools, attitudes and networks you’ll need will help a lot. And if you do need accommodations remember that assistive technology that can really go a long way,” says Sean.

Find career resources here.

CAREER RESOURCES 

The post Succeeding in STEM: Two Microsoft Employees with Muscular Dystrophy Share Their Experiences appeared first on MDA.

Behind every MDA Muscle Walk Team is a story.

Sometimes it’s a grandparent walking in support of a grandson recently diagnosed with Duchenne muscular dystrophy. Other times it’s a group of classmates walking to help raise funds for their friend to attend MDA Summer Camp. And in some instances it’s someone who knows nothing about muscular dystrophy but wants to do something positive to help others.

For siblings Olivia and Steven Sosa, participating in their local Muscle Walk was a way to create awareness for and fight the terrible disease that has slowly robbed Steven of his physical strength.

“I was around 19 or 20 years old when I noticed that my body was starting to be affected,” shares Steven, who lives with limb girdle muscular dystrophy type 2B.

Since his diagnosis, Steven’s condition has progressed.

“Steven had a cold that led to pneumonia, which led to him moving to an assisted living home. He has been in assisted living for about a year, but prior to that he lived with our dad,” says younger sister Olivia.

“We’re really close so it’s been hard to watch him struggle as the disease advances, but I always try to stay positive,” shares Olivia.

Part of that positivity has come through creating awareness about the realities of living with muscular dystrophy.

Although the family is new to MDA, with Olivia learning about the organization only briefly before she and Steven participated in their local Muscle Walk this past fall, they jumped into the organization head first.

“We found out about MDA just a little bit before our Muscle Walk. I emailed the local MDA office about resources for Steven and we began talking and I was able to get my family involved in Muscle Walk,” shares Olivia.

“Since being in assisted living Steven hadn’t been outside for about a year so he was really happy to participate in the Muscle Walk,” says Olivia.

After getting familiar with the Muscle Walk course and acquainting himself with the MDA staff, Steven officially kicked off the event by performing the ribbon cutting.

“Steven was really happy to be there. He wants to go to every MDA event he can,” shares Olivia.

Prior to his first Muscle Walk Steven helped create a video for MDA, candidly sharing what life can really be life for a person who lives with muscular dystrophy.

“It’s been a really rough, rough battle and life seems to be unfair, but that’s life and I’m not going to throw my gloves in yet,” says Steven.

Until Dec. 31, 2017 your support can mean twice as much — an anonymous group of generous donors has agreed to match every donation made, dollar for dollar, up to $100,000. Thanks in advance for your contributions.

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The post Sosa Family Participates in First MDA Muscle Walk appeared first on MDA.

Whenever Paul Robertson and his Fishing for Muscular Dystrophy (FFMD) team pull into a truck stop, they know it might be a while before they are able to leave. Although there to pump fuel, the caravan of trucks and boats adorned with the FFMD and MDA logos are such a big hit with fellow motorists that people inevitably come up to them and start a conversation.

“Every time we stop for fuel it takes us an hour to leave,” Paul says with a laugh. “People pull up alongside, snapping pictures on their phones, asking us ‘What is the boat for?’ or ‘What is FFMD all about?’”

This is precisely the type of buzz Paul hoped to receive with the caravan. In addition to building brand awareness for the FFMD organization and for MDA, it also serves as a way to raise the profile of neuromuscular disease across the country. Paul believes, however, that this is just the tip of the iceberg for what FFMD can achieve in the future.

Fundraising powerhouse

In just two short years, Paul has taken what was once a distant dream of his and turned it into reality. In fact, FFMD — which has a strategic alliance with MDA — has become more than he ever could have dreamed.

“When we started FFMD, we wanted to emulate the NASCAR model and have large corporations put their logos on the side of our boat as we fish in tournaments” Paul says. “But we’ve adapted that model over time, and it’s grown into so much more.” Today the organization has expanded beyond competing in fishing tournaments. FFMD also raffles off boats, helps to put on Muscle Team galas, sells merchandise and is involved in several other initiatives that raise money and awareness for neuromuscular disease.

Paul has a clear vision for FFMD’s future impact.

“Ultimately, we want to be responsible for a $1 million-per-year contribution to MDA,” Paul says matter-of-factly. “It’s only a matter of time.”

A determined captain

Paul’s commitment to MDA is a personal one— the 50-year-old has lived with the effects of limb-girdle muscular dystrophy type 2J (LGMD2J) for many years, experiencing progressive muscle weakness over time. Today, Paul uses a cane on occasion and has to find creative ways to get in and out of his boat.

“I run the boat upstairs sometimes, which requires going up a ladder,” Paul says. “I need to rely on two people to help push me up the ladder, and we have a multi-step process for getting me up and down safely.”

Despite his best efforts, Paul deals with falls on occasion. The day after Christmas last year, Paul fell at home and broke his pelvis, but he was determined to heal so he could get back in the captain’s chair as soon as possible.

“I missed the January tournament but made our February one,” Paul says. “I was itching to get back.”

Expanding its reach

At its core, FFMD is a fishing team that competes in offshore fishing tournaments throughout the country, on a boat proudly adorned with the FFMD and MDA logos. The team, which consists of Paul as the captain along with six to eight anglers, has competed in more than 50 tournaments in the last two years and has reached the podium to collect winnings 12 times, winning as much as $41,000 in a single tournament. A share of the proceeds benefits MDA.

Ever the competitor, Paul believes the team is not far away from winning these tournaments.

“I like to say that we are one fish away from hitting the big six-to-seven figure paydays,” Paul says with a laugh.

Another source of revenue for FFMD has been a boat raffle. Last year, the raffle raised $200,000 in gross proceeds through ticket sales at events, boat shows and through online purchases. Although the proceeds benefit MDA, the raffle is run entirely by Paul and the FFMD team. The 24-foot boat was generously discounted by manufacturer Everglades Boats, who has been a loyal supporter of FFMD over the years.

“They’ve been very active and involved in what we’ve done,” Paul says. “They’ve been an amazing sponsor.”

Everglades also built and donated a significant portion of the boat the FFMD team uses in tournaments.

Paul has also made a significant impact on land, too. For the last two years he has co-chaired the Washington, D.C.-area MDA Muscle Team Gala, with friends, FFMD team members and employees from his personal company playing a major role in helping to make the fundraiser a rousing success. In two years the gala has raised more than $900,000 in gross proceeds, and at last year’s event they raffled off a boat to one lucky winner.

Building buzz

In a short period of time, FFMD has made a name for itself in the fishing community.

“The fishing industry is an untapped market,” Paul says. “There are more people who fish than play golf but there’s no national-level charity and little charitable activity at the boat shows.”

Paul has quickly capitalized on this opportunity. As they travel from event to event, the FFMD team transports the boats on the back of a trailer, building awareness and buzz even on the highway. Although the caravan has been photographed nonstop by passersby and has amassed more than 20,000 followers on social media, Paul is most amazed by the national reach achieved by their T-shirts.

“We sell FFMD shirts with our logo on them at all our events,” Paul says. “They are popping up everywhere! Every week I hear someone saying ‘I saw a guy in Annapolis, Maryland walk into a restaurant with an FFMD shirt,’ or ‘I was at a boat show in Rhode Island and someone was walking around with an FFMD shirt.’

“We’ve never even been to Rhode Island.”

Looking into the future

Looking forward into 2019 and beyond, Paul sees more FFMD can do.

“When I take a step back and I take a look at what we’ve done in two years, I know we’ve done a lot,” Paul says. “But I am a raise-the-bar kind of guy and think we have still a long way to go.”

Paul hopes to extend FFMD’s reach to other areas of the country. He has plans to host several galas in other cities that emulate the successful model of the D.C. gala. In addition, this year the FFMD team is raffling off another Everglades boat and has built relationships with other large sponsors, including Yamaha and Garmin.

“Helping bring in these other corporate partners who were never engaged with or thought about muscular dystrophy is a big win for us,” Paul says.

Impact on MDA families

Although FFMD has been successful in fundraising and is building awareness throughout the country, Paul is most passionate about how the organization has made a positive impact on children and families living with muscular dystrophy.

“We’ve attended five MDA summer camps in the last two years and plan on attending three or four this summer,” Paul says. “It’s such a great thing for the kids and has been really eye-opening for us to see how much fun they’re having.”

Paul has also brought kids out onto the FFMD boat and has grown close to several families who have attended fishing tournaments.

“We’ve had multiple events where we’ve had MDA families attend,” Paul says. “When I take a child out on the boat and see the smile on their face, when I can tell them there’s hope and that you can do anything you put your mind to. It’s just a really neat thing. Interacting with the kids is fantastic, and the families we’ve met have been just amazing.”

Learn more about FFMD and where the team’s headed at http://www.fishingformd.com/.

The post Fishing For Muscular Dystrophy is Building Buzz – and Aiming for More appeared first on MDA.

The Muscular Dystrophy Association recently awarded an MDA clinical research network grant to Nicholas Johnson, vice chair of research and associate professor of neurology at Virginia Commonwealth University in Richmond, to establish the Limb-Girdle Muscular Dystrophy (LGMD) Clinical Research Network.

The investment, totaling $700,000 over two years, supports seven centers with expertise in LGMD research and clinical care and is targeted to facilitate the development of tools and infrastructure needed to efficiently and effectively conduct clinical trials and accelerate treatments for LGMDs.

An urgent need for clinical trial readiness

LGMDs are a diverse group of disorders with many subtypes categorized by disease gene and mode of inheritance. The unifying features of LGMDs are weakness and atrophy of the limb-girdle muscles (those around the hips and shoulders). However, the age at which symptoms appear, and the speed and severity of disease progression, can vary. There are no available treatments for any of the LGMD subtypes.

Therapy development in LGMDs can significantly benefit from rich natural history data to describe the clinical course of the different forms of LGMD, as well as from validated clinical outcome assessments that can be used to determine whether a drug or intervention has provided treatment benefit.

Through the coordinated activities and enhanced communication among this new network of LGMD clinics, Johnson and colleagues aim to standardize approaches and develop the clinical outcome assessments to be used in future clinical trials.

“MDA is pleased to support the development and work of the LGMD Clinical Research Network, which will put in place critical infrastructure for limb-girdle muscular dystrophy research and therapy development,” says MDA Scientific Program Officer Lianna Orlando, Ph.D. “The network is well-suited to address current challenges facing LGMD researchers and clinicians, and its work will improve clinical trial readiness in this group of diseases.”

Critical preparation for clinical trials

An initial step in the development of the network infrastructure is to conduct a longitudinal study of candidate clinical outcome assessments and develop disease-specific patient-reported outcomes. Investigators will initially focus on four different genetic LGMD subtypes and will collect DNA, genetic diagnosis and clinical information to help characterize the natural course of the disease.

“We believe that the absence of tools to measure disease progression is a major barrier to conducting drug trials in this underserved population,” Johnson says. “This is critically important given the exciting progress in gene therapy.

“We are focused on developing these tools, with a particular focus on those assessments that may be used across different LGMD types, and which assessments are unique to specific subtypes,” Johnson adds. “Progress in these areas is best suited for a research network that is geographically distributed and includes investigators with varied expertise in clinical and laboratory methods.”

The network comprises seven medical centers with significant expertise in LGMD research and clinical care, spanning across the United States. Centers are:

• California: University of California-Irvine — Tasheen Mozzaffar, M.D., site investigator
• Colorado: University of Colorado in Aurora — Matt Wicklund, M.D., site investigator
• Iowa: University of Iowa in Iowa City — Kathy Mathews, M.D., site investigator
• Massachusetts: Brigham and Women’s Hospital in Boston — Anthony Amato, M.D., site investigator
• Kansas: University of Kansas Medical Center in Kansas City — Jeff Statland, M.D., site investigator
• Missouri: Washington University in St. Louis — Conrad Weihl, M.D., Ph.D., site investigator
• Virginia: Virginia Commonwealth University in Richmond — Nicholas Johnson, M.D., principal investigator

MDA is committed to finding treatments and cures for LGMD

MDA has funded more than $59 million in LGMD research since 1950, and including this most recent award, currently is funding 10 active LGMD grants, with a total funding commitment of more than $2.8 million.

The new grant was approved by MDA’s Board of Directors after careful deliberations and analysis by MDA advisors and research staff. Currently, MDA is funding 177 research projects around the world, with another 28 pending.

For more, be sure to check back at mda.org.

The post MDA Funds Creation of Limb-Girdle Muscular Dystrophy Clinical Research Network to Speed Therapy Development appeared first on MDA.

Originally published in the Hartford Courant on July 22, 2018. To see the original article, click here.

For many years I was consumed by worry and bitterness, thinking I was the only one who was given an unfair lot in life.

My body, once athletic and fit, was weakening from the uncompromising progression of an adult-onset neuromuscular disease called Limb-girdle muscular dystrophy type 2B. On my 21^st birthday, I was asymptomatic; three years later I was falling on sidewalks with no warning. The divide between where I was at in my life and where I thought I would be had widened into a seemingly insurmountable chasm. I was consumed by jealousy. While my friends were advancing in their careers, buying houses and getting married, I was worried about whether I could get up under my own power if I fell again on my walk home.

I was angry. But above all, I felt alone. I felt that no one could possibly understand what I was going through. That my disease was somehow, incomprehensibly, my fault. As I can only see now with the benefit of hindsight, depression is not a rational beast.

I am 31 now and am in a much better place emotionally than where I was in my mid-20s. I have recovered from that low point and, for the most part, have gotten my life back on track. Two years ago, I graduated from business school and today am working as a market intelligence manager for a large nonprofit organization. But accomplishments aside, I still remember vividly what it was like to suffer silently, depressed, not knowing if I was strong enough to handle my lot in life. Not knowing if anyone could relate to what I was going through. My physical challenges were nothing compared to the suffering I went through emotionally.

If there was one benefit to going through that hellish period, it was learning how to put myself in someone else’s shoes. Once it finally sunk in that I was not the only person in the world going through adversity, I began to see life through a different lens. A more compassionate lens.

I think about that time in my life often, especially in the last few weeks as I learned of the suicides of Kate Spade and Anthony Bourdain. Here were two people who, by all measures, were raging successes, yet who were silently struggling on the inside.

Their passing only reinforces the fact that we are all carrying around heavy burdens in this life. Maybe you are struggling to cope with the constant negativity and anger in the news. Maybe you are tired of comparing your life to the perfect lives everyone seems to be living on Facebook or Instagram, wondering why that can’t be you. Or maybe it’s something else — a health challenge, a loss of a loved one or unfulfilled dreams. Whatever the root cause, no one is immune from experiencing hardship and adversity in life. No one.

But as I eventually grew to appreciate after repeatedly scraping myself off of sidewalks throughout the Boston metro area, our shortcomings, flaws and disabilities can be our greatest source of beauty and intrinsic worth. To paraphrase Leonard Cohen, they are the cracks that allow the light to shine through. The burdens that we carry everyone else carries, even if we don’t initially perceive them in others. No one is perfect. If we were perfect, we would cease to be human.

These burdens we carry are formidable and can cause anyone, even the strongest and most successful among us, to strain under the weight. Yet we can use these burdens in our lives to draw closer to others on a deeper level, once we realize that everyone has a hurt lurking below the surface. In your next interaction, whether with a friend, family member or stranger, know that even if they are not showing outward signs of distress, they are likely hurting in some way on the inside. That deep down, they might be wondering if anyone will ever be able to understand what they are going through.

Without my support system — without the family, friends, classmates and coworkers who were there for me and who figuratively and literally picked me up during my darkest times — I don’t know where I’d be today. Once I finally opened up to them, they opened up to me, and I learned that they were also carrying burdens.

It doesn’t take much effort to reach out to those around you, to ask, simply, how they are doing. You never know — you might very well be the helping hand that someone needs to get back on their feet.

Chris Anselmo lives in Westbrook. Follow Chris’s patient journey at www.sidewalksandstairwells.com.

The post Knocked Down By Disease And Depression, I Got Back Up appeared first on MDA.

George Wood is the official taste-tester for the annual MasterVac Industrial Services Jambalaya Benefit in Baton Rouge, La. He picks the best pot — one of many made up by his dad, Damon, MasterVac co-owner, and the business’ employees — each year.

The benefit is in honor of George, who lives with limb-girdle muscular dystrophy (LGMD), and other kids like him.

“We’ve been doing our benefit for 13 years now, and in our best year raised $15,000,” says Monika Wood, George’s mom. “We couldn’t help George, and felt helpless. There is no treatment or cure for limb-girdle muscular dystrophy. All we could do was try to raise money for MDA hoping one day for a treatment or cure for all children and adults affected by muscular dystrophy.”

George, 16 years old now, started physical therapy at 2 months old after presenting hypotonia, or low muscle tone. He didn’t begin walking until 12 days before his second birthday; a muscle biopsy led to a diagnosis of LGMD.

George’s doctor immediately put the Wood family in contact with their local MDA office. They became involved with MDA’s telethon, and they started their own benefit through Your Way for MDA.

“We never wanted another family to go through having to hear a doctor tell you that your child has MD and life is going to be very difficult for him,” Monika says.

The Woods make a lot of jambalaya. This year, they had 10 large pots of it, plus pots of white beans — even with an unexpected pot theft. Someone stole one of MasterVac’s custom jambalaya pots and burners a few weeks before the benefit this year, but thanks to local news coverage, the pot was located at a pawnshop and returned. A local hardware store donated a replacement pot, too.

Event chefs served up 2,000 plates of jambalaya, raising $13,000.

Monika’s advice to others thinking of starting their own MDA fundraisers?

“You can be creative,” she says. “Get your child involved. Of course, we have amazing volunteers. Every [MasterVac] employee helps out and they look forward to it every year. Helping a charity like MDA just makes people feel good.”

Join the Wood family in the quest to help kids and adults living with neuromuscular diseases live longer and grow stronger.

YOUR WAY FOR MDA 

The post Louisiana Family Puts Their Own Spin on MDA Fundraising appeared first on MDA.

Marshall Hogarth, postdoctoral fellow at Children’s Research Institute, Children’s National Health System in Washington, D.C., was awarded an MDA development grant totaling $180,000 over three years to improve understanding of the molecular and cellular basis of the fatty replacement of muscle in type 2B limb-girdle muscular dystrophy (LGMD) as well as in Miyoshi myopathy.

If successful, Hogarth’s work could enable therapeutic development to slow or block disease progression by preventing muscle loss.

Please describe your current research in LGMD.

Limb-girdle muscular dystrophy type 2B (LGMD2B) is a progressive muscle-wasting disease caused by mutations in the gene coding for the dysferlin protein. Gradual replacement of muscle with fat is a feature of the pathology in both LGMD2B patients and mice with insufficient levels of dysferlin. Loss of muscle function in LGMD2B patients and mice is correlated with the fatty conversion of muscle, which suggests that the processes leading to fatty muscle conversion are significant to disease pathogenesis and are thus potential therapeutic targets. However, little is known about the mechanism of the fatty conversion and how the absence of dysferlin protein disposes muscle into this pathway.

Using a mouse model of dysferlin-deficiency we have mimicked age and injury-induced fatty conversion and degeneration of muscle observed in LGMD2B patients. Further, we have developed a new mouse model where fatty conversion and muscle dysfunction associated with dysferlin deficiency has been attenuated. Using these tools, we will decipher the cellular mechanism underlying the fatty replacement of LGMD2B muscle and identify approaches to prevent this process to improve loss of muscle function in LGMD2B.

Is this your first MDA grant?

This is my first MDA grant, and it is difficult to overstate how much it means to me. A career in academic research has long been a dream and something I have worked hard towards, but the transition from postdoctoral research to an independent investigator is tremendously difficult for all young scientists. Hence, I’m extremely grateful to MDA for their support in providing an opportunity for me to chase my dreams.

What is your focus within the LGMD field and why is it important?

I’m interested in understanding the basis for the age-dependent muscle loss, specifically with regards to the relevance of this process to LGMD2B where appearance of intramuscular fat and replacement of myofibers correlates with the onset and progression of disease in patients.

Fatty replacement of muscle has been observed due to ageing and injury, but this is greatly enhanced in dysferlinopathic muscle. However, there is little understanding of the molecular and cellular basis of this process and consequently it is unclear how one can intervene to prevent it. My work focuses on addressing this lack of understanding and could provide avenues to halt or slow this aspect of the pathology.

Why is it important that MDA continue to fund research in LGMD and Miyoshi myopathy?

There is still considerable unmet need in understanding dysferlinopathy and there are no treatment options available. Exciting progress is being made in this area, and continued funding by MDA is critical to ensure that this momentum is maintained and translated into clinical benefits.

What do you feel people impacted by these diseases can have the most hope about with respect to research right now?

The late onset of clinical symptoms is the most puzzling aspect associated with the dysferlinopathies. Understanding the pathological mechanisms which underpins this and discovering avenues to intervene in the process will be of great benefit to patients, clinicians and researchers.

Does your work have any potential implications for other disease fields?

Fatty replacement of muscle is associated with a number of different diseases, including other muscular dystrophies, denervation/disuse atrophy, sarcopenia and chronic obesity. The biological mechanism we are investigating stands to provide insight into how these processes are activated and may lead to muscle loss in these other disease conditions.

Learn more about MDA’s LGMD genetic testing program.

LEARN MORE

To learn more about how MDA research is accelerating treatments and cures for LGMD and Miyoshi myopathy, please visit mda.org.

The post Five Questions with Researcher Marshall Hogarth appeared first on MDA.

September 30 is Limb Girdle Muscular Dystrophy Awareness Day, and in many ways I am honored to be doing something that I hope will help all of us affected by the many forms of this type of muscular dystrophy. I began to have symptoms of my subtype, LGMD2L, at age 47, and while the progression has been relatively slow, over a dozen years I have definitely seen the wasting away of key muscles.

Despite the disease’s toll, I have continued to be active, and I have especially enjoyed my role on MDA’s National Community Advisory Committee. This has allowed me to get a greater understanding of the work being done by MDA in so many areas, both nationally and locally.

The most exciting learning for me was the amount of funding that MDA provides to so many great researchers across the country, researchers that are looking at a variety of illnesses. I know that LGMD2L is rarer, has a later onset in terms of age and wasn’t even discovered or identified until 2010. (In fact, MDA-supported researchers were behind that important advance, as well.*) Because of these reasons and others, the scientific community hasn’t yet seen a lot of funding earmarked specifically for LGMD2L.

And this is where MDA came through. I read that MDA had awarded funding to Dr. Criss Hartzell, PhD to look specifically at treatments for LGMD2L. Dr. Hartzell does his work at Emory University in Atlanta. I reached out to him to explore how I could help his work. This led to a year of preparation for what happened earlier this month.

I was able to set a three-way call with Dr. Hartzell and my neuromuscular specialist, Dr. Matthew Wicklund, now at the University of Colorado, Denver. We began to research my specific form of the 2L illness, and we concluded I would be a good cell donor. This led me to, ironically, during the month that we designate for LGMD awareness, schedule muscle and skin biopsies so that I could be a part of ongoing research into my disease subtype.

When the day arrived, I was grateful to be attended to by a truly international team of experts. They said that I had more people in the room than for any biopsy they have ever had. It took about two hours, and the doctors used only local anesthesia, which was nice because I was able to talk with the team throughout the process.

They collected one skin specimen and two muscle specimens. Dr. Hyojung Choo from Emory University took my specimens, put them on ice and ran to the airport. She personally transported the skin specimen and one of the muscle specimens to Atlanta. The other muscle specimen stayed at UC Denver for viewing and freezing for the future.

These specimens will be used for years as my cells are harvested and experimented with. As I said at the beginning, I am honored to be at the cutting edge, quite literally, as a patient.

As we look ahead, I want to thank MDA for their foresight and help, and I know that the research funds granted to Dr. Hartzell will lead to exciting new findings. The future is looking brighter as we continue to work together, raise much needed funds and search for treatments and cures.

To a better future!

* Two MDA grants to Bernard Brais resulted in the discovery and characterization of the ANO5 gene as the cause of LGMD2L: in 2005, MDA awarded Brais $180,000 for “Cloning and characterization of the mutated gene responsible for a new form of recessive LGMD;” in 2009, Brais received $168,000 to study “Characterization of the function of TMEM16E/ANO5 gene mutated in LGMD2L.”

Ralph Yaniz is a former regional vice president for AARP and is currently a licensed clinical counselor. He worked his entire career in the nonprofit arena in mental health and aging, and he led major advocacy efforts in Illinois. Ralph also helped start a cancer foundation in Florida that provides bilingual assistance in English and Spanish. He is a member of MDA’s National Community Advisory Committee.

Learn more about MDA’s LGMD genetic testing program.

LEARN MORE

The post I am on the Cutting Edge, Literally, of LGMD Research appeared first on MDA.