Tag: rare disease

A rare disease took her sister. Now, a Burleson mom is helping search for a cure

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A childhood photo of Callie Marshall, left, with sister Rocky Tucker. Marshall was born with Alström syndrome, a rare genetic disease that causes, among other things, vision and hearing loss, heart and lung disease and diabetes.

Courtesy of Rocky Tucker

People hear one-in-half-a-million odds, and they tend to tune out, especially in the context of a medical diagnosis. One in half a million means it’ll happen to someone else, not you or somebody you know. Until it does.

In May, doctors, researchers and affected individuals and families will gather in Fort Worth for an international conference and symposium on Alström syndrome, an exceedingly rare genetic disorder with an estimated 2,000 diagnosed cases worldwide. That’s roughly one in every 500,000 people, though there are likely more living with the disease.

The conference is hosted by Alström Syndrome International, a Burleson-based organization led by Executive Director Rocky Tucker, a Burleson mom.

In 1996, Tucker’s sister Callie Marshall was born with Alström syndrome, which causes, among other things, the loss of sight and hearing, heart and lung disease, diabetes, the accumulation of excess fat around the abdomen during childhood and stunted growth leading to shorter stature in adulthood.

When Marshall was diagnosed at 6, she was the 121st person worldwide to be identified as having Alström syndrome. At that time, her life expectancy was 12 to 15 years, Tucker said. Marshall doubled that, passing away in July 2024 at 28.

Tucker was 9 when her sister was diagnosed. The preceding years had been frustrating for her parents, she said, as they searched for answers about Marshall’s health problems.

Callie Marshall, right, with sister Rocky Tucker. Marshall was born with Alström syndrome, a rare genetic disease. Today, Tucker is the executive director of Alström Syndrome International, a Burleson-based organization supporting Alström syndrome research. Courtesy of Rocky Tucker

The first symptom Marshall displayed as an infant was an eye twitch. Tucker said her parents were angry when a doctor told them their daughter would eventually lose her sight, and they sought a second opinion. That diagnosis, however, proved true. Marshall would go on to also lose much of her hearing and experience issues with her heart, her liver and her kidneys.

Tucker said her mother initially learned about Alström syndrome through a Google search. That led the family to Jan Marshall (no relation), a pioneering Alström syndrome researcher in Bar Harbor, Maine, who helped diagnose Tucker’s sister.

In infants, Alström syndrome most often reveals itself through vision problems and the children being heavier than normal, said Tucker. Today, there are prenatal and postnatal genetic tests that identify Alström syndrome, but there’s no comprehensive treatment or cure, only ways to address individual symptoms to improve the quality of life. But the estimated life span is still short. Tucker said she knows of no Alström syndrome patient who is older than around 40, and most don’t make it past their 20s.

One of the things Tucker hopes will happen through events like the annual conferences, which occur every three years, is that more people will learn to recognize the symptoms of Alström syndrome, leading to more timely diagnoses.

The conferences also bring together top Alström syndrome researchers, of which there are less than 50 in the world, to discuss the latest findings.

A genotype/phenotype study is underway that will hopefully identify the underlying cause of Alström syndrome at the cellular level, Tucker said. She added that this could lead to a treatment breakthrough in the coming years.

Aside from hosting the clinical symposiums and raising awareness, Tucker said the conferences foster a sense of community among people touched by Alström syndrome. Tucker attended her first conference in 2004, when she was 11, and she said it was the first time she found herself among others who understood what it was like to live with a family member suffering from Alström syndrome.

“It’s a family,” Tucker said.

Leading up to the Fort Worth conference, Tucker is organizing a fundraising dinner and auction at Lost Oak Winery in Burleson. The event will be held Saturday, Feb. 28, which is Rare Disease Day. The dinner is open to all, and the money raised will cover expenses for volunteers who attend the conference in May. These volunteers will act as chaperones and translators for children with Alström syndrome, so they can experience activities around Fort Worth while their parents attend the conference sessions.

It’s less than two years since Marshall passed, but Tucker said leading Alström Syndrome International has given her an outlet for her grief. When asked how she remembers her sister, Tucker described her as a force.

“Callie was a very strong personality,” Tucker said. “She was resilient and brave and very sassy. She was a big personality, and the strongest person I ever met.”

In her own way, Tucker hopes to exhibit those same qualities as she does her part to support research initiatives and connect families with physicians.

The Alström syndrome community is small, and it’s likely no one reading this will ever have to confront the disease. But maybe, just maybe, the right person will hear about the conference in Fort Worth, and a life will be changed. It’s a long shot — a one-in-half-a-million chance, perhaps — but there’s a chance nonetheless.

The 11th Alström Syndrome International Family Conference and Scientific Symposium will be May 21-25 at the Sheraton Downtown Fort Worth, 1701 Commerce St.

The Boots and BBQ for a Cause fundraiser will be Feb. 28 at Lost Oak Winery, 8101 County Road 802, Burleson.

For details, visit alstrom.org.

The Alström Syndrome International conference and symposium will be May 21-25, 2026, in Fort Worth. The event is focused on supporting families affected by Alström syndrome and supporting research into finding a cure. Courtesy of Rocky Tucker/Alström Syndrome International

Matt Adams

Fort Worth Star-Telegram

Matt Adams is a news reporter covering Fort Worth, Tarrant County and surrounding areas. He previously wrote about aviation and travel and enjoys a good weekend road trip. Matt joined the Star-Telegram in January 2025.

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Matthew Adams

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February 3, 2026
America’s Most Popular Drug Has a Puzzling Side Effect. We Finally Know Why.

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Statins, one of the most extensively studied drugs on the planet, taken by tens of millions of Americans alone, have long had a perplexing side effect. Many patients—some 5 percent in clinical trials, and up to 30 percent in observational studies—experience sore and achy muscles, especially in the upper arms and legs. A much smaller proportion, less than 1 percent, develop muscle weakness or myopathy severe enough that they find it hard to “climb stairs, get up from a sofa, get up from the toilet,” says Robert Rosenson, a cardiologist at Mount Sinai. He’s had patients fall on the street because they couldn’t lift their leg over a curb.

But why should an anticholesterol drug weaken muscles in the arms and legs? Recently, two groups of scientists stumbled upon an answer. They didn’t set out to study statins. They weren’t studying cholesterol at all. They were hunting for genes behind a rare disease called limb girdle muscle dystrophy, in which muscles of the upper arms and legs—sound familiar?—become weak and waste away. After both teams tracked the disease through a handful of families in the U.S. and a Bedouin family in Israel, their suspicions separately landed on mutations in a gene encoding a particularly intriguing enzyme.

The enzyme is known as HMG-CoA reductase, and to doctors, it is not obscure. It is, in fact, the very enzyme that statins block in the process of halting cholesterol production. And so, the answers to two mysteries suddenly became clear at once: Dysfunction in this enzyme causes muscle weakness from both limb girdle muscular dystrophy and statins.

This connection between a rare disease and a common drug stunned the researchers. “It seemed too good to be true,” says Joel Morales-Rosado, a pathologist who worked on one of the studies as a postdoctoral researcher at the Mayo Clinic. “One of the first things you learn in medical school is association between statins and myopathy.” Now the answer as to why— along with a potential treatment for it—has emerged from the DNA of just a few patients living with a seemingly unrelated genetic disease.

The first patient the Mayo team studied had been showing signs of limb girdle muscular dystrophy since he was a child, and his symptoms worsened over time until he lost the ability to walk or breathe with ease. (The disease can also affect large muscles in the torso.) Now in his 30s, he wanted to know the genetic cause of his disease before having children and potentially passing it on to them. His two brothers had the disease as well. So the team looked for genes in which all three brothers had mutations in both copies, which is how they zeroed in on the gene for HMG-CoA reductase.

Six more patients from four other families confirmed the link. They too all had mutations in the same gene, and they too were all diagnosed with some degree of limb girdle muscular dystrophy. (Interestingly, for reasons we don’t entirely understand, they all have normal or low cholesterol.)

Unbeknownst to the Mayo team, a group of researchers halfway around the world was already studying a large Bedouin family with a history of limb girdle muscular dystrophy. This family also carried mutations in the gene encoding HMG-CoA reductase. Those afflicted began experiencing minor symptoms in their 30s, such as muscle cramps, that worsened over time. The oldest family members, in their late 40s or 50s, had lost all movement in their arms and legs. One bedridden woman had to be ventilated full-time through a hole in her windpipe. Another had died in their mid-50s, Ohad Birk, a geneticist and doctor at Ben-Gurion University of the Negev, in Israel, told me. When his team saw that this family had the mutations in HMG-CoA reductase, they too immediately recognized the potential link to statins.

This pair of studies in the U.S. and Israel “really strongly suggests” that statins cause muscle damage via the same HMG-CoA reductase pathway, says Andrew Mammen, a neurologist at the National Institutes of Health who was not involved in either study. The enzyme’s role had been suspected, he told me, but “it had never been proven, especially in humans.” (Questions still remain, however. The enzyme, for example, is found in tissues throughout the body, so why do these common side effects show up in muscles specifically?) Rosenson, at Mount Sinai, wondered if variations in this gene could explain why statins don’t affect everyone the same. Perhaps patients who suffer particularly severe muscle side effects already have less functional versions of the enzyme, which becomes problematic only when they start taking statins, which reduce its function even further. This research might end up concretely improving the life of at least some of the patients most severely affected by statins.

That’s because Birk’s team in Israel did not stop at simply identifying the mutation. For two decades, he and his colleagues have been studying genetic disorders in this Bedouin community in the Negev and developing genetic tests so parents can avoid passing them on to their children. (Cousin marriages are traditional there, and when two parents are related, they are more likely to carry and pass on the same mutation to a child.) With limb girdle muscular dystrophy, his team went one step further than usual: They found a drug to treat it.

This drug, called mevalonolactone, allows muscle cells to function more normally even without the HMG-CoA reductase enzyme. Birk’s team first tested it in mice given doses of statins high enough to weaken their limbs; those also given mevalonolactone continued to crawl and even hang upside down on a wire just fine. They seemed to suffer no ill effects. When that experimental drug was given to the Bedouin woman bedridden with limb girdle muscular dystrophy, she also started regaining control of her arms and legs. She could eventually lift her arm, sit up by herself, raise her knees, and even feed her grandchild on her own. It was a dramatic improvement. Birk told me he has since heard about dozens of patients with limb girdle muscular dystrophy around the world who may benefit from this experimental drug.

Mammen and others think the drug could help a small subset of patients who take statins as well. However, the majority of patients—those with relatively minor pains or weaknesses that go away after they switch statins or have their dosage reduced—probably don’t need this new treatment. It probably even undermines the whole point of taking statins: Mevalonolactone eventually gets turned into cholesterol in the body, so “you’re basically supplying the building blocks for making more cholesterol,” Mammen said. But for some people, numbering in the thousands, severe muscle weakness does not go away even after they stop taking statins. These patients have developed antibodies to HMG-CoA reductase, which Mammen suspects continue to bind and disable the enzyme.

Mammen is eager for these patients to try mevalonolactone, and he’s been in touch with Birk, who unfortunately doesn’t have enough of the drug to share. In fact, he doesn’t even have enough to treat all of the other family members in Israel who are clamoring for it. “We’re not a factory. We’re a research lab,” Birk told me. Mevalonolactone is available as a research chemical, but that’s not pure and safe enough for human consumption. Birk’s graduate student Yuval Yogev had to manufacture the drug himself by genetically engineering bacteria to make mevalonolactone, which he then painstakingly purified. Making a drug to this standard is a huge amount of work, even for commercial labs. Birk is looking for a pharmaceutical company that could manufacture the drug at scale—for both patients with limb girdle muscular dystrophy and those with the most severe forms of statin-associated muscle damage.

Back in 1980, the very first person to receive an experimental dose of statins suffered muscle weakness so severe, she could not walk. (She had been given an extremely high dose.) Forty years later, muscle pain and weakness are still common reasons patients quit these very effective drugs. This recent breakthrough is finally pointing researchers toward a better understanding of statins’ toll on muscles, even if they still can’t fix it for everyone.

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Sarah Zhang

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June 27, 2023
Newly Discovered Genetic Disease Is More Common Than Expected

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Jan. 25, 2023 – A recently discovered inflammatory disease known as VEXAS syndrome is more widespread and dangerous than previously understood, a new genetic analysis suggests. While it’s rare, researchers believe the disease may affect tens of thousands of men in the U.S. and may frequently go undiagnosed.

“Is VEXAS really more common than we think with patients hiding in plain sight? The answer is yes,” says Mayo Clinic rheumatologist Matthew J. Koster, MD, who’s studied the disease but didn’t take part in the new research project. His institution, he says, sees a patient with the disease every week or two.

Researchers first described VEXAS syndrome in 2020 and gave it its name, which stands for several of its traits – vacuoles, E1-ubiquitin-activating enzyme, X-linked, autoinflammatory, somatic. The disease is linked to a gene mutation that seems to disrupt how the body identifies dysfunctional proteins so they can be eliminated.

“The disease is quite severe,” says study lead author David Beck, MD, PhD, an assistant professor in the Department of Medicine at NYU Langone Health.

Patients with the condition “have a variety of clinical symptoms affecting different parts of the body and are being managed by different medical specialties.”

Symptoms can include anemia – a low level of red blood cells in the body – and inflammation that affects the skin, lungs, bone, cartilage, and joints. “These symptoms are frequently mistaken for other rheumatic or hematologic [blood] diseases,” Beck says. “However, this syndrome has a different cause, is treated differently, requires additional monitoring, and can be far more severe.”

According to Beck, who helped discover the disease, hundreds of people have been diagnosed with VEXAS syndrome in the short time since it was defined. The disease is believed to be fatal in some cases.

For the new study, researchers looked for relevant variants in genetic data from 163,096 people (average age 52.8 years; 94% white; 61% women) who were patients at 10 Pennsylvania hospitals from 1996 to 2022.

Eleven people (nine male, two female) had the likely variants, and all had anemia.

Just over half of the patients – 55% – had a clinical diagnosis that was previously linked to VEXAS syndrome. “This means that slightly less than half of the patients had no clear associated clinical diagnosis,” Beck says. “VEXAS syndrome represents an example of a multi-system disease where patients and their symptoms may get lost in the shuffle.”

Moving forward, he says, doctors should be on the lookout for patients with unexplained inflammation and various symptoms who can’t be diagnosed or don’t respond to their first treatments. “These patients will also frequently be anemic, have low platelet counts and elevated markers of inflammation in the blood, and be dependent on corticosteroids,” which dampen the immune system, he says.

Koster says the disease is so common that “clinicians should consider that some of the patients with diseases that are not responding to treatment may in fact have VEXAS.”

Diagnosis of VEXAS can be made via genetic testing.

As for treatment, Beck says the disease can be partly controlled by medications that aim to tame the immune system. Also, he says, bone marrow transplants have shown signs of being effective.

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January 25, 2023
Balancing the Good With the Bad

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By Stefani Shea-Akers, as told to Keri Wiginton

In 2013, when I was an English professor at a community college, teaching became difficult. I struggled to speak during class. I had some general weakness and trouble breathing. I had to drive between classes because I could no longer walk between them.

I told a nurse practitioner about my mobility issues, but she brushed me off. I was probably imagining things, she told me. But I knew these symptoms weren’t normal. Most 32-year-olds don’t need a cane, walker, or wheelchair to get around.

My “imaginary” problems progressed quickly. And the following year, after a lot more tests, a doctor diagnosed me with myasthenia gravis (MG).

The Good and Bad of Life After MG

I was a bit of a workaholic in my former life. Things are completely different now. I had to stop teaching because my symptoms are so serious. I’m 40 now, but I lost my academic career in my 30s.

MG also took much of my independence and some of my hobbies. I used to write my own songs. But I can’t sing them anymore. Losing all that, and more, has been devastating.

Yet I’ve learned a deep lesson of gratitude. I find joy wherever I can. I know I never would’ve done that if I didn’t have this disease.

Now I try to savor moments every day. Sometimes I sit in my yard, just watching the birds and leaves. It’s a good form of mindfulness. I started painting again — I never had spare time for my art when I worked a lot.

And I still love music. I play the piano and keep up my vinyl collection.

Plus, I tap into my research and writing background. I use those skills to raise awareness about MG and share stories about my journey through chronic illness.

I also have postural orthostatic tachycardia syndrome, or POTS, an autonomic nervous system disorder. And I advocate online for the dysautonomia, MG, and rare disease communities.

How Do I Have Fun?

I’ll save my energy to play the piano, paint, or do something creative. Sometimes my husband and I will go for walks outside, and I’ll use my power chair. And like everyone else, I enjoy spending time with friends and family.

When I have to do something overwhelming — I have a lot of medical appointments, tests, and infusions — I plan a reward for myself after. It’s a lot easier to get through the hard parts of my illness when I have something to look forward to.

My reward can be something small, like watching a movie, buying a new album from a favorite artist, or eating something I enjoy. I’m a chocolate lover. But when I have to travel for appointments, my husband and I will plan what take-out food we’ll get. That makes it feel a little more fun.

What Treatments Help My MG Symptoms?

I take meds throughout the day, including an immunosuppressant. I also get IVIg infusions every week, a treatment that affects my antibodies in a way that helps my immune system.

Every day I use a BiPap (bilevel positive airway pressure) machine to help me breathe.

I also had a thymectomy in early September. That’s a surgery to remove the thymus gland. This procedure may help ease symptoms for some people with MG. It’s not right for everyone, but my doctor and I decided it’s my best chance for long-term improvement.

When I’m not recovering from surgery, I try to stay active and build up my strength. Right now, I’m working on walking longer distances. I do short walks inside my house or outdoors nearly every day. I also stretch regularly, which helps manage some of my chronic pain from injuries.

What Are My Other Strategies to Manage MG?

I follow a pretty strict routine each day. I try to eat my meals at the same time. That helps me stay on track with my treatment schedule — it’s essential to take my medication and infusion at the right time.

If I have to make a call, I’ll schedule it in the morning and plan to rest afterward. But I have to be careful about how much I speak. Talking, especially on the phone, can make my weakness worse very fast. Respiratory problems are a big issue for me.

Sometimes I can’t fully recover if I push myself too hard. So it’s second nature for me to take breaks throughout the day. But it’s not possible to avoid my triggers all the time. That includes stress and overexertion.

I’ll go into survival mode when I feel like I’m on the verge of a serious flare. I do what I call “militant” resting — I seriously limit how much I speak and move. I’ll stay on my BiPap. I may have to get my IVIg infusion earlier than usual to avoid a hospitalization.

How Do I Get Support?

My husband is my caregiver and has been for the last 6 years. He helps me with lots of things. I haven’t been able to drive in many years, so I often rely on him to go places. And he does all the cooking and a vast majority of the cleaning.

But he has a full-time job, and I know he gets tired. We try to make sure he gets breaks, too.

I’m also grateful for my family and friends who offer their support.

I’d never heard of MG when I was diagnosed. And I’m guessing most other people haven’t either. It brings me joy when someone tells me they’ve researched my condition or treatment. I know it means they’ll have a better understanding of what my life is really like.

You have MG. Now What?

A rare disease diagnosis can be the beginning of a new life. It’s OK to grieve what you’ve lost. But prepare yourself for the changes ahead. How will you accomplish everyday tasks? How will you manage your schedule?

It’s important to pace yourself. Plan for appointments and treatments. Schedule some recovery time after each task.

You may have to reframe how you think about rest. You aren’t being lazy. Breaks aren’t wasted time. Your body and mind need them, especially if you want to avoid flares.

Chronic illness can feel like a marathon. There may not be a finish line, and you may not be able to make it through the way you did before. But give yourself time and space to adapt to your new body and life.

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December 15, 2022
TS Alliance Advocates for Prioritization of Rare Disease Patients and Caregivers for COVID-19 Vaccines

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Press Release
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updated: Mar 3, 2021

SILVER SPRING, Md., March 3, 2021 (Newswire.com)
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In partnership with more than 70 advocacy groups, healthcare providers, and biotech companies, the Tuberous Sclerosis Alliance (TS Alliance), an internationally recognized nonprofit that raises awareness and funds to fight the rare genetic disease tuberous sclerosis complex (TSC), recently issued a letter to the National Governors Association that calls on states to immediately prioritize Americans with life-threatening rare diseases in their COVID-19 vaccine rollouts.

In late January, President Biden announced a strategy committed to vaccine distribution for high-risk individuals, specifically those with underlying conditions, including rare diseases. However, the 25-30 million individuals in the United States with rare diseases and their caregivers have yet to be prioritized in many states. The letter has already been submitted to several states and will be presented to every state in the coming weeks.

“Due to the complexity of such diseases like TSC, rare disease patients are at an increased high risk for neurological and organ damage if they are infected with COVID-19,” said Kari Rosbeck, President and Chief Executive Officer of the TS Alliance. “Additionally, if their caregivers are exposed and forced to quarantine, it adds additional concerns for irreversible outcomes associated with lack of care and potentially catastrophic consequences for those with rare diseases. This is why prioritizing individuals with rare diseases — as well as their caregivers — in state vaccination plans is an urgent matter.”

Over the course of the past year, the pandemic has uniquely impacted the rare disease community, in some cases leading to disease regression. Families have lost access to vital resources such as physical, occupational, and speech therapies, and many have also experienced delays in routine care management due to the high risk of exposure to COVID-19 in their communities.

“This pandemic has highlighted the unique struggles of the rare disease community. We feel we have the responsibility to join forces with nonprofits and advocacy groups to the betterment of the patients we serve,” said Dr. Jeremy Levin, Chairman and CEO of Ovid Therapeutics, Inc., one of the letter’s signatories. “As states work through their vaccination rollout plans, we strongly urge them to prioritize rare disease communities because of the unique and heightened risks they face.”

About TS Alliance

The TS Alliance is dedicated to finding a cure for tuberous sclerosis complex while improving the lives of those affected. For more information, visit tsalliance.org, call 800-225-6872 or email info@tsalliance.org.

About Ovid Therapeutics

Ovid Therapeutics Inc. is a New York-based biopharmaceutical company using its BoldMedicine^® approach to develop medicines that transform the lives of patients with rare neurological disorders. The company is working in rare epilepsies, rare developmental and epileptic encephalopathies. Angelman syndrome, Fragile X syndrome, KIF1A, and other disorders. For more information on Ovid, visit ovidrx.com.

Co-Signers to the Letter:

Alagille Syndrome Alliance; Allergy & Asthma Network; Alport Syndrome Foundation; Angelman Syndrome Foundation; Autism Science Foundation; Batten Disease Support and Research Association; Neil S. Belloff, Esq. – Chief Operating Officer and General Counsel, Eloxx Pharmaceuticals, Inc.; BPAN Warriors; Brain Donor Project; Bridge the Gap – SYNGAP Education and Research Foundation; Jeffrey R. Buchhalter, MD; CACNA1A Foundation; Child Neurology Foundation; Wendy Chung, MD, PhD – Kennedy Family Professor of Pediatrics and Medicine, Chief, Clinical Genetics, Columbia University; Coalition to Cure CHD2; COMBINEDBrain; Peter B. Crino, MD, PhD – Chair, Department of Neurology, University of Maryland School of Medicine, Chair, Tuberous Sclerosis Alliance Board of Directors; CURE Epilepsy; CureSHANK; Cute Syndrome Foundation; Cystic Fibrosis Research, Inc.; Danny Did Foundation; Dravet Syndrome Foundation; Dup15q Alliance; Epilepsy Foundation; FamilieSCN2A Foundation; Kyle Fink, PhD – Institute for Regenerative Cures, UC Davis School of Medicine; FOXG1 Research Foundation; Global Genes; Global Liver Institute; Glut1 Deficiency Foundation; GRIN2B Foundation; HCU Network America; Hermansky-Pudlak Syndrome Network; Hope for Hypothalamic Hamartomas; Hope for ULD; IGA Nephropathy Foundation; International Cystinuria Foundation; International Foundation for CDKL5 Research; KCNQ2 Cure Alliance; KIF1A.ORG; Darcy A. Krueger, MD PhD – Clack Endowed Chair in Tuberous Sclerosis, Director, Tuberous Sclerosis Clinic, Professor of Clinical Pediatrics and Neurology, Cincinnati Children’s Hospital Medical Center, University of Cincinnati College of Medicine and Chair, Tuberous Sclerosis Alliance Professional Advisory Board; Patroski Lawson, MSP – CEO, KPM Group DC; Jeremy Levin, DPhil, MB BChir – CEO, Ovid Therapeutics, Chairman, The Biotechnology Innovation Organization; LGS (Lennox-Gastaut Syndrome) Foundation; National Alliance for Caregiving; NORSE Institute; PACS1 Syndrome Research Foundation; PCDH19 Alliance; phaware global association; Phelan-McDermid Syndrome Foundation; Primary Ciliary Dyskinesia Foundation; Project 8p; Pulmonary Fibrosis Foundation; Amit Rakhit, MD, MBA – President and Chief Medical Officer, Ovid Therapeutics; RARE-X; Rare Epilepsy Network (REN); RASopathies Network; Ring14 USA; Mustafa Sahin, MD, PhD – Director, Translational Neuroscience Center, Director, Translational Research Program, Rosamund Stone Zander Chair, Professor of Neurology, Harvard Medical School, Chair, Tuberous Sclerosis Alliance International Scientific Advisory Board; Scleroderma Foundation; Jill Silverman, PhD – MIND Institute, UC Davis School of Medicine; SLC6A1 Connect; SNAP25 Foundation; STXBP1 Foundation; SynGAP Research Fund (SRF); Tbc1d24 Foundation; TESS Research Foundation for SLC13A5 Epilepsy; The Brain Recovery Project: Childhood Epilepsy Surgery Foundation; The Global Foundation for Peroxisomal Disorders; The LAM Foundation; The Schinzel-Giedion Syndrome Foundation; Tuberous Sclerosis Alliance; Wishes for Elliott/DEE-P Connections

MEDIA CONTACT
Jaye Isham, jisham@tsalliance.org
Vice President, Communications Strategy
Tuberous Sclerosis Alliance

Source: Tuberous Sclerosis Alliance

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March 3, 2021
Uplifting Athletes Non-Profit to Host Third Annual Young Investigator Draft Presented by CSL Behring on Saturday, March 7, 2020 at Lincoln Financial Field in Philadelphia

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An Event Celebrating the Next Generation of All-Star Researchers Who Are Working on Breakthrough Treatments and Cures for Rare Diseases

Press Release
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updated: Feb 27, 2020

PHILADELPHIA, February 27, 2020 (Newswire.com)
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Uplifting Athletes, a Philadelphia-based nonprofit organization that inspires the Rare Disease Community with hope through the power of sport, announced plans today for the third annual Young Investigator Draft, presented by CSL Behring, taking place on Saturday, March 7, 2020 at Lincoln Financial Field, home of the Philadelphia Eagles of the National Football League (NFL).

The football theme of the Young Investigator Draft is inspired by the NFL Draft. Instead of drafting emerging young football talent, this unique draft turns the spotlight on the next generation of promising young medical researchers who are “drafted” and awarded research grants by Uplifting Athletes in order to help them pursue new treatments and potential cures for many of the world’s rarest diseases.

“The Young Investigator Draft serves as a powerful celebration of research within the field of rare diseases, providing a platform to distribute research funding to up-and-coming young researchers and honoring our ‘Rare Disease Champion Team’,” says Rob Long, Executive Director of Uplifting Athletes. “We’re proud to have already awarded $180,000 in grants over the past two years alone and look forward to continued success. With every new year, we discover brilliant young researchers who help us learn more about these underserved diseases.”

“CSL Behring is proud to continue sponsoring this innovative program that supports emerging science and rare disease research,” added Kevin Kovaleski, Vice President, Global Commercial Development, Transplant, CSL Behring. “The Young Investigator Draft reinforces our promise to patients by empowering researchers to focus on the rare disease community.”

Uplifting Athletes and its annual Young Investigator Draft focus on rare diseases because they are often underserved and so diverse. Rare diseases are so prevalent that 1 in 10 Americans are affected by rare diseases. That’s a higher percentage than cancer and AIDS combined. Additionally, they transcend gender, race, age, sexual orientation and socioeconomic status. Unfortunately, due to the large variety and complexity of rare diseases, there is very little support for rare disease research, especially compared to funding for more common diseases such as heart disease and diabetes. Uplifting Athletes exists to close this significant funding gap.

Uplifting Athletes emphasis for the 2020 Young Investigator Draft is on building greater audience participation for the draft event on Saturday, March 7, 2020, as well as inviting more medical research-related corporate sponsorship and involvement in the event. By doing so, Uplifting Athletes believes it can help transform the way society views, engages with and supports the research that will benefit many future generations. If you are not able to attend the event in person, please tune into the live stream on our Facebook page at bit.ly/2020YID at 7 p.m. EST.

ABOUT UPLIFTING ATHLETES

Founded in 2007, Uplifting Athletes fulfills its mission to inspire the Rare Disease Community with hope through the power of sport with a powerful network of over 20 college football student-athlete led chapters, Uplifting Ambassadors and Team UA participants.

Since its inception, Uplifting Athletes has raised more than $5 million to support the mission of Uplifting Athletes and its charitable programs: Rare Disease Awareness, Rare Disease Research, Uplifting Experiences and Uplifting Leaders. To learn more, please visit upliftingathletes.org

Uplifting Athletes Media Contact:

Rob Long
Office: +717-737-7900 ex 701
Email: rob.long@upliftingathletes.org

Source: Uplifting Athletes

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February 27, 2020
Becoming ZebraStrong: Ehlers-Danlos Society Launches International Patient Empowerment and EDS Awareness Tour

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Patient Advocate and International Executive Director Lara Bloom to screen inspiring documentary, “Issues with my Tissues,” to empower patients, families, and raise awareness for EDS and associated disorders

BALTIMORE, October 9, 2018 (Newswire.com)
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The Ehlers-Danlos Society is proud to announce its first International Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD), awareness tour, “Becoming Zebra Strong,” featuring Lara Bloom, International Executive Director of The Ehlers-Danlos Society. Hosted by local affiliates from Northern California to South East England, event includes public screenings of Bloom’s 2015 documentary,“Issues With My Tissues.”

The acclaimed documentary follows Lara’s seemingly unthinkable journey to raise awareness and funding for EDS research by achieving what her doctors believe to be the impossible—becoming the first known person living with EDS to complete the London Marathon.

Becoming #ZebraStrong in the face of adversity and chronic pain

Affected by numerous multisystemi cchallenges for nearly three decades, Bloom’s diagnosis of hypermobile EDS (hEDS) serves as a catalyst for nothing less than a total metamorphosis.

Driven to reconstruct her life, physically, emotionally, and spiritually, Bloom embarks on a journey of total transformation.

Despite rarely walking more than a few miles at any point in her life, the film documents Bloom’s training, her pain, her endurance—including her heroic drive to complete the final thirteen miles on a fractured foot—and her ultimate triumph, as Bloom pushes herself to successfully finish the entire 2011 marathon, in just eight hours and 18 minutes.

To get across the finish line, Bloom seeks out the advice of renowned medical professionals and numerous families and individuals whose suffering has been compounded by years of misdiagnosis, uneven treatment, and the heart-wrenching challenges of life with EDS.

Following each screening, Bloom will answer questions and discuss how people can become “ZebraStrong” in the face of EDS, HSD, and the numerous related symptoms and associated conditions, which confront those living with these disorders.

All events are free and open to the public. For more information and to RSVP, please click here.

Current schedule includes:

SAN FRANCISCO METRO AREA
Tuesday, October 9th
7:00 PM to 9:00 PM
5353 Betsy Ross Dr.
Santa Clara, CA

Wednesday, October 10th
7:00 PM to 9:00 PM
Ed Roberts Campus
Osher BC
3075 Adeline Street
Berkeley, CA

LOS ANGELES METRO AREA
Thursday, October 18th
4:30 PM to 6:00 PM
Laemmle Claremont
450 W 2nd Street
Claremont, CA

MARYLAND
Tuesday, October 23rd
7:00 PM to 8:45 PM
Miller Branch Library
Ellicott Room
9421 Frederick Rd
Ellicott City, MD

WASHINGTON, DC
Thursday, October 25th
6:30 PM to 8:30 PM
Tenley-Friendship Library
Second Floor Large Conference Room
4450 Wisconsin Avenue, NW
Washington, DC

NEW YORK CITY
Tuesday, October 30th
6:30 PM to 8:30 PM
92nd Street Y
2nd Floor, Room S252
1395 Lexington Ave
Manhattan, NY

RHODE ISLAND/SOUTHERN MASSACHUSETTS
Sunday, November 4th
4:00 PM to 6:00 PM
Bell Street Chapel Unitarian Church
3 Bell Street
Providence, RI

UCKFIELD, EAST SUSSEX, UK
Wednesday, November 21
7:00 PM
Temple Grove Care Home
Herons Ghyll
Uckfield
East Sussex TN22 4BY UK

ABOUT THE EHLERS-DANLOS SOCIETY

The Ehlers-Danlos Society is a global community of patients, caregivers, healthcare professionals and supporters dedicated to saving and improving the lives of those affected by the Ehlers-Danlos syndromes, hypermobility spectrum disorders, and related conditions.

A 501(c)(3) nonprofit organization with offices in the U.S. and the U.K., we support collaborative research, education, advocacy, community-building and care for people with EDS and HSD.

The Ehlers-Danlos Society seeks to grow worldwide awareness — and a better quality of life for all who suffer from these conditions. Research is at the center of what we do so that one day we will have a cure.

ABOUT THE EHLERS-DANLOS SYNDROMES AND HYPERMOBILITY SPECTRUM DISORDERS

The Ehlers-Danlos syndromes (EDS) are a group of 14 heritable connective tissue gene disorders that produce a spectrum of complex problems across multiple systems of the body. The physical characteristics that are common to all types of EDS include hypermobile joints, skin hyperextensibility, and tissue fragility. EDS is known to affect more than one in 5,000 men and women of every race and ethnicity.

Each person’s case of Ehlers-Danlos syndrome is unique. Severity may range dramatically, even within families. Prognosis depends on the type of Ehlers-Danlos syndrome and the individual.

Hypermobile Ehlers-Danlos Syndrome (hEDS)

Hypermobile EDS (hEDS) typically begins with extreme joint hypermobility, joints which can stretch beyond normal limits; a propensity for sprains, strains, subluxations and dislocations; pain, often in lower limbs, and with fine motor or repetitive tasks; and easy fatigability.

Although each person with hEDS faces their own set of problems out of the wide range of possible effects, hEDS generally evolves. The initial “hypermobility” phase may involve the ability to hyperextend various body parts to extremes normally attributed to contortionists, gymnasts or elite dancers. Over time, the extreme hypermobility and connective tissue instability of hypermobile EDS may lead to permanent injuries. The “pain” phase involves widespread and worsening pain and headache; pelvic pain in women; and worsened fatigue. The “stiffness” phase seen in some adults and in the elderly results in general reduction in joint hypermobility; significant losses in functionality because of disabling pain and fatigue; and increased limitations, due to reduced muscle mass and weakness, prior injuries and arthritis.

While certain features of hypermobile EDS are not yet in the diagnostic criteria — as more research is needed to prove causation and the relationships between the hEDS and potential comorbidities — clinical descriptions of hEDS have expanded beyond joint hypermobility to include: chronic pain and fatigue, gastrointestinal disorders, neurological issues, dysautonomia, and anxiety. As of this time, hypermobile EDS has no identified distinctive cause.

Hypermobility Spectrum Disorders (HSD)

The hypermobility spectrum disorders (HSD) describe patients with symptomatic joint hypermobility not corresponding to other known conditions. The spectrum of HSD ranges from secondary musculoskeletal manifestations and a simplified categorization of genetic syndromes featuring joint hypermobility.

Vascular Ehlers-Danlos Syndrome (vEDS)

Life expectancy can be significantly shortened for those with the Vascular Ehlers-Danlos syndrome (vEDS) due to the potential for organ and/or blood vessel rupture. While significantly diminished life expectancy is not usually a factor in the other types, quality of life can be severely affected by chronic pain, disability, and myriad comorbidities. There are no cures for the Ehlers-Danlos syndromes, but there are treatments which address many symptoms and preventative measures that may help slow their progression.

Source: The Ehlers-Danlos Society

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October 9, 2018