Rare Diseases

Three Actions That Lift the Voices of Those With Rare Diseases

The president and CEO of the National Organization for Rare Disorders (NORD) shares three ways anyone can get involved in rare disease advocacy for faster diagnoses, better treatments, and more innovations.

Each year on the last day of February, the worldwide community celebrates Rare Disease Day — a patient-led awareness campaign highlighting the challenges of the 300 million individuals around the globe who are impacted by rare diseases.

Chances are high that you or someone close to you has a rare disease. Rare diseases affect more than 25 million Americans and their families, but we still have a long way to go to ensure those affected get the care and support they deserve. On average, it takes 5-7 years for rare disease patients to get a diagnosis. And once patients complete the long journey to diagnosis, the path remains

difficult, since 90% of all rare diseases have no FDAapproved therapy.

As a result, it’s essential that we build public support to advocate for faster diagnoses, better treatments, and more innovations.

Year-long energy and action

That’s why we must carry forward the momentum generated on Rare Disease Day and continue to advocate for the patients and caregivers who live with rare diseases 365 days a year.

This is especially important this year, since we are also celebrating two milestone 40th birthdays that demonstrate the power of sustained advocacy.

The first is Congress’ passage of the Orphan Drug

Act, the original 1983 legislation to incentivize the development of therapies for rare diseases. The Orphan Drug Act was born out of the advocacy of rare disease champions who raised their collective voice for change. Because of the Orphan Drug Act, and the pioneering work of these early advocates, more than 600 treatments have been approved for rare diseases.

The second is the 40th anniversary of the National Organization for Rare Disorders (NORD), the grassroots advocacy organization that was born out of the passage of the Orphan Drug Act and has been bringing together advocates during the four decades since to influence change.

Continuing to seek medical and equitable victories

In 2022 alone, the rare disease community helped make it possible for millions of Americans with rare diseases to gain or keep access to affordable, high-quality health insurance. We saw Medicare patients get relief on medication costs through caps on out-of-pocket expenses. We saw critical FDA programs reauthorized and

improvements made to the drug development process. We ensured increased representation of diverse and underserved populations in clinical trials supporting FDA approval of drugs and medical devices.

Despite these victories, so much important work remains ahead of us. To keep the spirit and energy of Rare Disease Day alive throughout the year, join the Rare Action Network, connect with patient organizations, or participate in events. Your voice and advocacy make a difference.

By coming together and raising our collective voice, we can create a better and more equitable future for all people living with rare diseases. n

Peter L. Saltonstall President and CEO, National Organization for Rare Disorders

Publisher Shannon Ruggiero Managing Director Julia Colavecchia Lead Designer Kayla Mendez Designer Celia Hazard Lead Editor Dustin Brennan Copy Editor Amara Hartman Digital Success & Production Manager Taylor Daniels Cover Photo THEO & JULIET All photos are credited to Getty Images unless otherwise specified. This section was created by Mediaplanet and did not involve USA Today.

Driving Innovation Against Blood Cancer

POLYCYTHEMIA

blood thicker, which can lead to strokes, heart attacks, organ and tissue damage. The established goal of therapy is to maintain red blood cell levels, as measured by hematocrit, below 45%.

INNOVATING SOLUTIONS

Protagonist Therapeutics is developing rusfertide, an investigational drug designed to control the amount of iron available to make red blood cells. Rusfertide therapy is being studied in the VERIFY trial to evaluate its safety and ability to control the production of red blood cells in the blood, potentially reducing the need for phlebotomy treatment and improving patients’ quality of life.

AT PROTAGONIST we are focused on improving the health and well-being of patients living with polycythemia vera.

Learn more at: www.protagonist-inc.com

A Rare Blood Cancer May Lead to Heart Attack and Stroke

A cancer that thickens the blood and causes fatigue can also lead to heart attack and stroke.

Polycythemia

vera (PV) is a chronic cancer that leads to overproduction of red blood cells, increasing “stickiness” of blood. People with PV experience a range of symptoms, some of which may be dismissed as less serious. These include visual disturbances, shortness of breath, severe itching, and poor concentration.

But the excess number of red blood cells slows blood flow, which puts people with PV at risk for additional serious health threats, including blood clots and cardiovascu-

lar events like heart attacks, strokes, and mini-strokes.

If diagnosed, people with PV can regularly undergo a procedure called phlebotomy. Phlebotomy removes blood from the body using the same procedure as donating a unit of blood.

“The established goal of phlebotomy therapy is to maintain red blood cell levels, as measured by hematocrit, below 45%,” said Dr. Ronald Hoffman, Albert A. and Vera G. List Professor of Medicine and director of the Myeloproliferative Disorders Research Program at the Icahn School of Medicine at Mount Sinai

in New York, New York. “Research shows phlebotomy is an effective treatment, but frequently the target hematocrit level is not achieved between physician visits, leaving the patient at risk for developing clots.”

Patients with poorly controlled PV can develop scarring of their marrow known as myelofibrosis and can sometimes develop leukemia.

“PV is one of those blood cancers that you don’t hear about as much, but it is a serious disease. It’s important that patients get diagnosed and understand their treatment options,” Dr. Hoffman said.

“In addition to phlebotomy, there are a number of approved medicines that can be used to control this condition, and experimental therapeutics are also being evaluated,” he said.

An example is rusfertide. An investigational medicine, it is still being studied by doctors and is not approved by regulatory authorities like the U.S. Food and Drug Administration or the European Medicines Agency.

levels within the recommended range, potentially reducing the need for phlebotomies, PV’s ability to impact symptoms, and patients’ likelihood of experiencing blood clots or cardiovascular complications.

“We hope that by advancing research and development of drug candidates like rusfertide, we may be able to potentially add to available treatment options for PV and other rare diseases,” said Dr. Arturo Molina, a physician-scientist specializing in the development of new treatments for rare and more prevalent diseases at Protagonist Therapeutics. n

Rusfertide is currently being studied to evaluate its safety and ability to control the production of red blood cells, and to keep hematocrit ENMedia

Understanding MPNs and What ET, PV, and MF Patients Need to Know

Approximately 295,000 Americans have one of a rare group of blood cancers — polycythemia vera (PV), essential thrombocythemia (ET), or myelofibrosis —collectively known as myeloproliferative neoplasms (MPN), which are characterized by an increase in red blood cells, white blood cells, or platelets.

In polycythemia vera, there are too many red blood cells made in the bone marrow. Essential thrombocythemia occurs when the bone marrow produces too many platelets.

Both PV and ET may put the patient at risk for heart attack, stroke, or pulmonary embolism.

People with primary myelofibrosis have “fibrosis,” a buildup of scar tissue in the bone marrow, causing problems such as an enlarged spleen or liver.

On a mission

While MPNs are chronic and there are a few therapies available, there isn’t a cure. But one group — the MPN Research Foundation (MPNRF)

— is on a mission to fund research toward discovering

new treatments, improving patients’ quality of life, and, ultimately, finding a cure.

“MPNs, specifically new treatment options, have become a hot topic,” said Kapila Viges, CEO of MPN Research Foundation. “The promising news is we now have four treatments available for some MPN patients. The hopeful news is also the several treatments in latestage development that could become available in the next 18-24 months.”

Symptoms and diagnosis

Symptoms of MPNs, such as

fatigue, bleeding or bruising, nights sweats, and itchy skin, often start months or years before diagnosis. However, symptoms are often overlooked since they may overlap with another diagnosis.

Diagnosis often occurs after abnormal bloodwork, such as high or low blood counts. MPNs are typically diagnosed in men and women who are over the age of 50, with most being in their 60s. With proper treatment, many people with MPNs live normal life spans. However, others may experience

complications, including clots and abnormal bleeding.

Patient voices MPNRF held an externally led, patient-focused drug development meeting with 135 in-person and web-based participants, which gave the MPN patient community an opportunity to educate about the challenges of living with an MPN.

MPNRF is committed to raising awareness among all stakeholders, including patients and providers. n

Kristen Castillo

This article has been paid for by Protagonist Therapeutics.

Driving groundbreaking research. Improving lives.

For 22 years, MPN Research Foundation has delivered on a bold commitment to fund global pioneers studying innovative approaches to prevention, halting progression, and improving quality of life for people living with an MPN. Convening patients and caregivers, researchers and clinicians, biopharmaceutical industry leaders and advocates around the world, together we are conquering MPNs.

See our IMPACT at mpnresearchfoundation.org/impact

MPN Research Foundation’s mission is to help people with an MPN live a better quality of life as we work toward answers to prevention, progression and a cure for polycythemia vera (PV), essential thrombocythemia (ET), and myelofibrosis (MF) – blood cancers collectively known as myeloproliferative neoplasms (MPNs).

To learn more, visit our website at mpnresearchfoundation.org

Adam Rose Shares His Rare Disease Story One Video at a Time

Actor and influencer Adam Rose doesn’t shy away from talking about Gaucher disease. He’s open about his experience and wants to shine a light on rare diseases and chronic illness.

Adam Rose, known for acting roles on “Veronica Mars” and “L.A.’s Finest,” was born with Gaucher disease (pronounced go-SHAY), which affects one in 40,000 live births. It’s a genetic condition in which the body can’t break down lipids, the fatty substances in organs. The lipids build up and strain organs, including the spleen and liver.

There are three types of

Gaucher disease, and Rose has type 1, which affects 95% of people with the rare disease. Symptoms typically include enlarged spleen and liver, bone problems, and fatigue.

Living with Gaucher

Rose, 35, has known about his rare disease most of his life. He was diagnosed when he was 8, after a new pediatrician noticed his spleen was enlarged.

“I was having some symptoms,” he said. “I was

really short for my age. I had a pretty bad complexion. My blood did not clot very well. And I had really low energy.”

A CAT scan showed Rose’s spleen was 16 times its normal size — bigger than a basketball in his stomach. A bone marrow test confirmed he had Gaucher disease.

Rose doesn’t remember a lot about that time, but he does recall getting infusions at the hospital twice a month. These days, he has checkups with his doctor and gets annual bone

parents must be carriers of the Gaucher gene, and Rose’s wife is not a carrier.

“Blue cardigan guy”

Rose is active on social media, especially TikTok, where many of his videos have gone viral. There, he’s known as “blue cardigan guy,” but he didn’t start that way.

Usually, he wears hoodies when he shoots his videos. But one day, all his hoodies were in the wash, so he wore the blue cardigan — a handme-down from his brother — and the video went viral. Soon, fans recognized his look and demanded he wear the cardigan all the time.

While his videos often include fun observations, his take on TikTok trends, and sometimes feature special guests like actors Jessica Alba, Ashley Tisdale, and Jensen Ackles, Rose is also using his platform to talk about rare diseases. In one of his videos, he tells his 8-year-old self that everything’s going to be OK, even though his rare disease doesn’t have a cure, and it will limit him from playing sports and doing a lot of things his peers can do.

density tests and MRIs, and he receives a monthly infusion administered by a nurse who comes to his home. He was getting his monthly infusion, which lasts about an hour and a half, during the phone interview for this article.

He’s grateful to spend quality time with his wife, Joanna, and their son, Emmett, who was born in 2021. Since Gaucher disease is inherited, Rose was worried about passing the disease on to his child. But both

“Telling that side of the story is really important to me, because I think a lot of people with chronic illness feel like it’s going to define the rest of their lives,” Rose said. “I think I’m a good example of someone who has not let their chronic illness define their entire life. I’m lucky enough to have an illness that does not force me to do daily medicines, daily infusions, or impair me in any real way. I’m one of the lucky ones.” n

Kristen Castillo

PHOTO: THEO & JULIET

Global Genes CEO Talks

Next-Generation Advocacy

Global Genes addresses challenges in the rare disease community. CEO Charlene Son Rigby has spent her career building organizations at the intersection of data, technology, and life sciences, and continues to create advocacy networks and programs.

My introduction to the rare disease world was like many in the community: a diagnosis. My daughter, Juno, was diagnosed with a very rare neurodevelopmental condition called STXBP1-related disorder after a threeyear diagnostic journey that started when she was four months old. It changed the way we thought we would live our lives.

When we received Juno’s diagnosis, I remember feeling utterly alone. I slowly began to meet other families, and together, we started a foundation.

We began driving forward collaborative research, community support, and awareness for STXBP1. This experience as a next-generation advocate led me to thinking about ways to advance work across rare diseases, which

led me to becoming CEO of RARE-X and now Global Genes.

Next-generation advocacy, the center of Global Genes’ mission and vision following the merger with RARE-X, allows individuals to utilize the tools and resources needed to accelerate advocacy efforts and also support opportunities to drive research and therapy development.

Next-gen advocates work in many ways to accelerate progress for their disorder — and their work spans diagnosis, becoming disease experts, and starting a nonprofit organization, all the way to finding funders and researchers, doing research, and working with pharmaceutical companies.

You’re never alone

Progress does not come without challenges. While the word “rare” is the word that defines

our community, Global Genes sees many similar challenges among our patients, families, advocates, and researchers. Last year, we asked our communities where they felt challenges existed and identified three areas of strategic focus: mental health, health equity, and research readiness.

Mental health is a serious and complex matter, especially for rare disease families. Our scientific advisory board, partners, advocates, and mental health professionals are helping to identify the best approach and strategy for Global Genes to support patients, caregivers, and advocates, and get them the most appropriate resources quickly. We also introduced a grant program open to Global Advocacy Alliance members to allow patient advocacy groups to develop mental health resources.

Also more crucial in the rare disease community is health equity. Last year, RARE-X published a landmark equity, diversity, and inclusion report that evolved into a collaborative pilot program, in partnership with RareKC and University of Alabama-Birmingham, that will reach underserved and underrepresented communities.

The two pilots starting in 2023 will help community leaders (e.g., faith-based leaders, rural community liaisons) identify patients with rare diseases, learn about rare diseases, provide family support, and build trusted relationships with community health workers, and then engage where appropriate in research.

In addition, health equity grants are open to Global Advocacy Alliance members to develop initiatives to

improve outreach strategies and address challenges that affect underserved and underrepresented communities. Our RARE Health Equity Forum, in partnership with the Rare Disease Diversity Coalition, brings together stakeholders in the rare disease community to identify the challenges that disproportionately affect underrepresented populations and define collaborative efforts to address those inequities.

Upcoming forums

In September, we will be hosting a Week in RARE, combining the RARE Health Equity Forum, RARE Advocacy Summit, and a RARE Partnering and Investor Forum. The community of key stakeholders will appreciate meaningful and actionable takeaways that should positively impact this important work. n

Charlene Son Rigby CEO, Global Genes

Celebrating 40 Years of the Orphan Drug Act

2023 marks the 40th anniversary of the Orphan Drug Act, which has been critical to stimulating a robust pipeline of rare disease therapies and drugs.

Prior to 1983, rare disease patients faced diseases with very few options for treatment. At that time, incentives for traditional larger-population medicines could not meet the need of generating a robust pipeline for smaller-patient populations. With limited numbers of patients that a particular therapy may serve, the cost to research and develop these drugs was simply out of reach.

In response to the marketplace needs, the Department of Health and Human Services and the U.S. Food and Drug Administration (specifically the Office of Orphan Products Development) began organizing with outside stakeholders to promote the development of products to treat these “orphan” diseases.

Paving the way

Patient advocates affected by rare diseases like Gaucher disease, Tourette’s syndrome, Huntington’s disease, severe

combined immunodeficiency, and many other disorders got involved in the effort. These pioneer rare disease advocates formed a coalition in the early 1980s. This coalition evolved into the National Organization for Rare Disorders (NORD), which formed in 1983 and championed advocacy efforts that led to the enactment of the Orphan Drug Act.

As Abbey Meyers, the head of the organization and the mother of a Tourette’s syndrome patient, later noted, “We look back on this

adventure with a great sense of accomplishment and relief. It was an opportunity for patients with rare diseases to empower themselves.  I doubt if we would have [had] such an effective and cohesive group if we had not faced opposition at every turn.”

Incentives

The Orphan Drug Act’s primary components allow for a seven-year marketing exclusivity to sponsors of approved orphan drugs/ products, a 50% tax credit for the cost of conducting human

ranging from public and commercial payer efforts to limit access, government policies that skew costs and incentives, and limited tools to identify rare diseases, such as the newborn screening program administered by the states.

The road ahead

With all the success generated by the Orphan Drug Act, the unmet need is great. Of the more than 7,000 rare diseases currently identified, approximately 700 have a drug approved for treatment. The Orphan Drug Act has provided hope to the 1 in 10 Americans who have a rare disease. These patients and their families are our neighbors, our friends, our school teachers, neighborhood coaches, and mentors.

clinical testing, and research grants for clinical testing of new drugs and therapies to treat rare diseases, and ensures that exclusive marketing rights limit competition by preventing other companies from marketing identical versions of the drug.

Over the years, there has been pressure to scale back the Orphan Drug Act, whether cutting back on the exclusivity or scaling down the tax credits. In addition, products that reach the market face challenges

Yet, most rare disease patients do not have therapies to treat their conditions. Revolutions in cell and gene therapy could provide many rare patients who have genetic diseases with targeted therapies that could be cures. In addition, small- and large-molecule research has developed a robust pipeline that the next generation of rare patients will benefit from.

While we celebrate the passage of the landmark Orphan Drug Act, there is still much to be done. Not just to keep the rare disease pipelines providing hope to patients, but to actually meet the promise of the Orphan Drug Act by making sure rare therapies are available to patients when they need them. n

Michael Eging, Executive Director, Rare Access Action Project

Seeing the Patterns of Primary Immunodeficiency

Education and awareness are the keys to improving the diagnosis and treatment of primary immunodeficiencies — and access to both.

For most people, the occasional infection is a perfectly normal experience. But for some, it’s a different story: They’re dealing with “mystery illnesses” that keep coming back despite being treated, or they’re dealing with the same infections over and over again. Many of these people are among the half million in the United States alone dealing with a primary immunodeficiency (PI).

“Primary immunodeficiencies are conditions that are caused by hereditary or genetic defects,” explained Nicole T. Rochester, M.D., health equity medical advisor for the Immune Deficiency Foundation. “It’s really a blanket term that is used to describe over 450 rare chronic disorders that have in common the fact that the body’s immune system is unable to effectively fight infection. They can affect anyone.”

Resources

Dr. Rochester advises you to speak with your primary care doctor or to access a nearby clinic if you think you might have a PI, and stresses that education is the key. “I would encourage anyone who has concerns to visit the Immune Deficiency Foundation’s website. There’s a lot of information there, much of it offered in multiple languages. The foundation exists to serve patients and families — and that includes those who have concerns about possible immunodeficiency.”

The ultimate goal is to improve people’s lives. “Their mission is to improve the diagnosis, the treatment, and the quality of life for those that are impacted by primary immunodeficiency,” Dr. Rochester said.

Jeff Somers

The Healing Power of Advocacy

Patients like me know all too well the feelings of isolation that living with a rare disease can bring. The reality can seem bleak. Only five percent of us have an FDA-approved treatment for our condition. Even if an effective therapy exists, often it is unaffordable, or we spend hours battling with our insurance provider to cover it. That’s if we have received a diagnosis at all. A recent study from the EveryLife Foundation for Rare Diseases determined the average amount of time that patients suffer without diagnosis is 6.3 years. I went 10.

While evidence now suggests there are more than 10,000 known rare diseases affecting more than 30 million Americans, many of these diseases impact as few as one patient. Having a sense of belonging is a basic human need, but it’s hard to join a club when you’re the only member.

Patient organizations bring all kinds together

One way to overcome the loneliness of rare disease is by engaging with patient organizations. Disease-specific nonprofit organizations offer resources, support, and ways to help raise funds for the

development of treatments and cures. Umbrella organizations like the National Organization of Rare Diseases, Global Genes, EURORDIS Rare Diseases Europe, and the EveryLife Foundation provide opportunities to interact with the broader rare-disease community.

In February, for example, EURORDIS, with financial and consultative support from the EveryLife Foundation, brought together 44 patient advocates from 21 countries for Brussels Rare Disease Week to share the challenges of their rare disease journey with European Union decision-makers. What better way to combat the rare disease public health crisis globally than by reaching across borders? Stateside, the EveryLife Foundation welcomed hundreds of rare disease patients and caregivers to Washington, D.C. for the 12th annual Rare Disease Week on Capitol Hill. The event attracted participants from all 50 states and Puerto Rico, ranging in age from one to 82 years and representing more than 100 patient organizations and 250 rare diseases. From Brooklyn, New York to Bismarck, North Dakota to Brush Prairie, Washington, advocates converged to share their personal stories with members

of Congress. They were even joined by citizens of the Cherokee Nation (the largest federally recognized tribe in America) from their tribal reservation in Oklahoma.

Traveling for rare disease patients is often a challenge (and not inexpensive), but determined individuals from across the country made the journey so they could join their voices — on whatever issues mattered to them. These advocates know legislation backed by evidence and supported with personal stories has the power to drastically improve quality of life and perhaps even to save lives. But worthwhile policies don’t pass unless brave patients demand it.

Community keeps hope alive

Advocating in numbers is not only effective, but also uplifting. Having a sense of purpose and working toward a shared goal is good for our mental health. Rare disease can be isolating, but it need not be defeating. By engaging in advocacy, you can do good while feeling good. Learn more at everylifefoundation.org. n

Britta Dornan, Senior Director of Communications and Marketing, EveryLife Foundation for Rare Diseases

A rare disease diagnosis may feel isolating, but there are global networks created to combine community and advocacy.

THE POWER OF RARE NMO

Neuromyelitis Optica (NMO) is a rare autoimmune disease that is often misdiagnosed as MS.

WHAT YOU NEED TO KNOW

NMO AND RELATED AUTOIMMUNE DISEASES ARE A SECRET EPIDEMIC : MORE COMMON THAN CANCER OR HEART DISEASE

TOP 10 CAUSES OF DEATH IN WOMEN < 65 YEARS

INCREASING & PROJECTED TO DOUBLE PREVALENCE BY 2050

Source: US DHHS / Office of Women’s Health

A rare approach to a rare disease. www.guthyjacksonfoundation.org

Finding Strength and Inspiring Others After 17 Years of Misdiagnosis

A TV news writer with a career spanning three decades, Nika Beamon has made a living telling other people’s stories. After 17 years of living with a mystery disease, she turned her focus inward to share her rare disease story.

Nika Beamon was a promising student at Boston College and a notable athlete. So it was bizarre when she developed an illness that just wouldn’t go away.

“I was a pretty well-tuned and well-oiled machine,” said Beamon, who started feeling symptoms at age 20. “So, the fact I was breaking down, running spontaneous fever, suffering pain — but not from an injury — I knew something was wrong.”

For 17 years, Beamon was misdiagnosed. Beamon kept managing the disease’s symptoms but continued to feel ill. That didn’t stop her from working a storybook career.

She’s been a news writer and producer in the ABC family for 25 years — including 2.5 at ESPN Classic. She currently works at WABC in New York. In 2001, she was part of the news team that won a Peabody Award for its coverage of the 9/11 terrorist attacks, and she has won two individual New York Emmys.

At long last At 37, Beamon received longawaited news. While driving through the Lincoln Tunnel, she got a phone call from her doctor. She could finally put a name to the ailment she’d lived with for almost half her life.

“I just thought, ‘Thank God, they’ve got it,’” she said.

The disease was identified as IgG4-related sclerosing disease — or just IgG4 for short — autoimmune disorder that involves inflammation of one or more organ systems in the body.

In the 17 years she went misdiagnosed, Beamon was extremely private about her struggles — almost none of her coworkers were aware she even had an autoimmune disorder. She credits a famous actress with getting her to come out of her shell.

“A coworker of mine saw that Rita Wilson was hosting a contest for The Huffington Post,” Beamon explained. “And she was asking people to submit essays.”

Beamon’s coworker

encouraged her to write about her rare disease journey. She submitted a piece titled “My 17-Year Quest For The Correct Medical Diagnosis,” which won the contest.

The essay’s success convinced Beamon there was interest in expanding on her story. She had nearly finished writing a book when her prognosis took a turn for the worse.

Diagnosed with chronic lymphadenopathy with suspicion of lymphoma several years beforehand, Beamon endured four surgeries from 2013-14 to remove lymph nodes. But the condition started to flare up again.

“When the lymphoma came back, I had an agent deal with Serendipity Literary in

Brooklyn, and they were like, ‘We think we can sell it,’ and I was like, ‘I think I need to do it myself, because I think I’m going to die,’” she said.

While fearing for her life, she self-published “Misdiagnosis: The Search for Dr. House” in 2014.

Finding support

One thing Beamon stresses to others navigating their own rare disease journeys is the importance of being your own advocate in the healthcare system, rather than a passive participant.

“Constantly listen to your body,” she said.

Autoimmune disorders can impact anybody. Beamon was in essentially perfect health at the onset of her condition — a sterling example of how no one is immune.

“With anybody who’s chronically ill, your first question is always, ‘Why me?’” she said. “And then you go, ‘Well, now that it’s me, what does the future hold?’

“It was important for me to show other people that life isn’t over just because you’re sick — there are still so many other things you can do. It may limit some of your possibilities, but it doesn’t end them.” n

Dustin Brennan

Rare Diseases Working Group

The Alliance for Patient Access’ Rare Diseases Working Group, a network of policy-minded healthcare providers, advocates for patientcentered care and bridges the gap between rare disease patients and timely, uniquely tailored treatments.

Accessing the right care shouldn’t be rare. But for many rare disease patients, getting the right treatment can be a difficult process.

A lack of awareness about rare diseases can make it challenging to receive an accurate diagnosis. Limited research, innovation, and funding may

mean there are no treatments targeted toward a specific condition. And in cases where treatments are available, uniform care models, limited research, and utilization management tactics like prior authorization and step therapy can prevent patients from accessing what they need.

Rare disease patients need timely treatment that’s tailored to their unique conditions, needs, and preferences.

That’s where the Alliance for Patient Access’ Rare Diseases Working Group comes in. This network of policyminded healthcare providers advocates for patient-centered care.

Combining access, awareness, and care

To promote patient-centered care for rare disease patients, the working group participates in advocacy initiatives to encourage better policy at the state-, federal-, or healthplan level. It also entails developing educational resources, which raise awareness about rare diseases and ensure that the clinician’s perspective informs policy discussions.

Through initiatives on rare conditions like amyloidosis and IgG4-RD, the Alliance for Patient Access’ Rare Diseases Working

Group helps patients, providers, and caregivers better understand the rare condition they experience.

The term “rare” may make these diseases seem uncommon. But between 25 and 30 million Americans have a rare disease. Rare is everywhere. The Rare Disease Working Group works to make access, awareness, and personalized care as common as the diseases that patients face.

To learn more, contact Elizabeth Simpson at esimpson@ allianceforpatientaccess.org. n

Alliance for Patient Access

Greater Equity Is Needed for Those in the Spinal Muscular Atrophy Community

Spinal muscular atrophy (SMA) is a genetic neurodegenerative disease that robs people of physical strength, impacting their ability to walk, eat, and breathe. Due to muscle weakness, many people with SMA use power wheelchairs.

Three FDA-approved treatments have gone to market since 2016, greatly improving outcomes and providing new hope for people living with SMA. Additionally, 98 percent of newborns in the U.S. are now screened for the disease at birth. While this medical progress is immense, roadblocks in society persist.

“Besides the physical side of SMA, the emotional aspects have evolved over the years. Anxiety about the unknown — will I have any issue getting into a new building, will I be able to get into a friend’s house, will it be hard for me to get up from my seat at the restaurant — are always present,” shared Brad Nunemaker, a member of

the Cure SMA board.

Through continued advocacy and awareness amongst the general public, members of the SMA community are hopeful of change.

“The system doesn’t work in our favor,” Nunemaker said.

Many adults with SMA utilize Medicaid for care services such as in-home aids to assist with basic tasks or physical therapy, in addition to other home- and community-based services. However, income and asset limits that exist in some state programs force individuals with SMA to choose between a meaningful career and independence.

“I didn’t realize this was a problem until I grew up,” shared 26-year-old Janelle Fiesta of Hawaii. “When I found out about the $2,000 asset limit, I was like, ‘How am I ever going to buy a house or pay for a car?’”

Fiesta is currently employed at the U.S. Navy’s Equal Opportunity Office and operates a small business, Cute Loot

Arts. She is still figuring life out but feels proud of what she has accomplished and is capable of expanding her horizons.

“I know my rights as a disabled person on a flight.”   Air travel itself can be stressful. For people with SMA, the chance of an airline losing or breaking their wheelchair adds additional anxiety.

In 2007, an airline broke Allie Williams’ wheelchair to the tune of $20,000 in damages. It took eight months to fix. In that time, she lost so much function and movement that she could no longer do her makeup, something she cherished.

Nearly 15 years later, thanks to a new treatment, Williams has once again mastered the art of makeup, and with the support and encouragement of friends and family, she also returned to air travel.

“I know my rights as a disabled person on a flight, and I really think that’s important,” she said.

Self-advocacy, as Williams describes it, is equally important. While there is a strong need to be able to use power wheelchairs on aircrafts, asking for proper accommodations and stating your needs helps alleviate confusion in the meantime.

“I’ve taken extra precautions for my chair. I have a piece of paper on there with my picture, because I want them to put a face to it,” Williams said. “It gave the kids an opportunity to connect on a deeper level.”

In December, 12-year-old Brady Chan organized neighborhood bake sales with a group of his sixth-grade friends to benefit SMA research and support programs. The kids planned every detail, had a taste test, and connected about the importance of raising critical funds.

“Brady still kind of struggles with educating others about SMA,” said Chan’s mom, Mimi. “He would much rather drive away and avoid the topic. This

was the first time he’d faced it straight on and talked about the disease that he lives with and how the organization Cure SMA has helped him.

“It gave the kids an opportunity to connect on a deeper level and to have a better understanding of what Brady lives with. It brought them closer.”

Not only did the kids raise over $64,000, but they also made a new connection with another local family affected by SMA.

A common thread amongst Nunemaker, Fiesta, Williams, and the Chans’ stories is one of belonging.

“Reach out to others and connect,” Fiesta said. “It’s easy to feel isolated or that others don’t understand what you’re going through; we are meant to build relationships and share our stories with other people. n

Sarah McCall, Communications Director, Cure SMA

Rapid advancements in FDA-approved treatments have improved the quality of life for people living with spinal muscular atrophy, but societal barriers remain.

Rare diseases afflict more than 30 million Americans, according to the U.S. Food and Drug Administration, and treating them remains a challenge. Many rare disease treatments are considered “orphan” drugs because of the economics of developing therapies for small patient populations. But even when a treatment exists for a rare disease, getting those treatments from a manufacturer to the patient can be difficult.

“What we saw going on in the market was industry consolidation,” said Jon Peters, co-founder and CEO of Anovo, a provider of comprehensive end-to-end services for manufacturers of rare disease drugs and the patients who need them, including specialty wholesale/3PL distribution services, specialty pharmacy services, and patient support hub programs. Anovo has the in-house capabilities to take the product from the point the drug is manufactured all the way to the patient, wherever the patient is located and needs services. “All the independent specialty pharmacies were being acquired by larger payer entities and distributors, which created a void in the market for a single-source provider focused on rare diseases.”

Nimble and responsive

Anovo aimed to fill that void with a focus on rare diseases and ultra-orphan specialty pharmacy products — and a unique approach: They only work on an exclusive basis with manufacturers and do not participate in limited distribution networks; they offer a complete, end-to-end distribution model; and they keep

The Benefits of Customized “Endto-End” Distribution Services for Rare Disease Drugs

distribution

the focus firmly on the patient experience for the benefit of the manufacturer.

Anovo’s chief commercial officer, Alan Erck, worked on the manufacturing side of the business for 25 years. “Anovo’s ability to react to the business’ needs, which are ultimately the patient’s needs, is really, really important,” Erck noted. “Bigger pharmacies are typically governed by a lot more internal processes that delay the ability to react to patient’s needs.”

That exclusivity and ability to be responsive helps get patients access to the manufacturer’s product faster, because there is no question about which pharmacy manages the patient, which is the ultimate goal. And Anovo’s streamlined, dedicated approach can typically obtain 80-90% coverage for the drug in question within one month.

Patient-centric

The patient experience is also much different than other specialty pharmacies. “We

have a dedicated pharmacy approach,” Peters explained. “For each product that we service, we have a team of intake specialists, reimbursement specialists, billing specialists, patient assistance program specialists, pharmacy technicians, pharmacists and nurses — the full continuum of people who need to be involved in the patient’s treatment to ensure the best therapeutic and health outcome.”

“These customized pharmacy teams are focused and committed to the manufacturer’s product, which allows them to essentially be an expert,” Erck said. “It allows customization and personalization. Relationships are formed. There’s a continuity, which drives accountability and increased communication with patients.”

The impact of that dedicated, patient-centric approach is easy to measure: Anovo’s adherence rate exceeds 96% across all products and its patient satisfaction ratings have exceeded 99% for the past seven years.

Driving value

For manufacturers, Anovo drives value in several ways:

• Anovo offers efficiency via a single point of accountability. For every aspect of the manufacturer’s business, and patient’s needs, there is always a member of the Anovo team readily available to find a solution.

• Under Anovo’s exclusive model, drug reimbursement is consistent throughout the market and positively impacts the manufacturer’s gross to net (GTN), and mitigates the need for increased manufacturer discounts over the life of the product.

• Anovo’s exclusive model is more cost-effective for manufacturers. “In a limited or open distribution network, you have multiple pharmacies, wholesalers, and hub providers, and you’re paying for each one of them,” Erck noted. “You are spending a lot more

money and internal time managing all of them with a resulting overall lower quality and consistency of patient care.”

For Peters, this is all about putting a vision into practice. “We built this company to be able to take a product from the manufacturer all the way to the end consumer,” he noted. “Once a manufacturer establishes a relationship with us, we are really an extension of their team. We become their supply chain, patient services and fulfillment department.

“I talk to our manufacturers every day, sometimes multiple times a day, and when manufacturers have a question they know who to call — they call me or one of our other executives.” n

Jeff Somers

To learn more, visit anovoRx.com

Limited

networks with disaggregated services often don’t serve patients with rare diseases well. One specialty pharmacy offers an alternative.