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Get Your Flu Shot Now

For some, getting a flu shot is just part of the fall routine every year. Immunization against the virus that causes influenza prevents millions of people from getting the disease, makes the disease less severe if you do get it, and can prevent death from severe disease and its complications. According to the Centers for Disease Control and Prevention (CDC), influenza causes an estimated 12,000 to 61,000 deaths every year in this country.

This year, because of the COVID-19 pandemic, physicians and public health officials say it’s even more important that everyone over the age of six months get a flu shot. This is especially important if you have an underlying health condition that makes you more at risk for developing complications if you get the flu. While the influenza vaccine will not prevent you from getting COVID-19 (researchers are still working on a vaccine for this different virus), it will help you avoid getting seriously sick with or—heaven forbid—dying from the flu. And the fewer people who get the flu, the more it saves healthcare resources that are still urgently needed for treating COVID-19 patients.

Those who are at high risk for flu complications are also at greater risk for getting COVID-19 and having serious outcomes. If you have an autoimmune condition or immune deficiency disease, such as myositis, myasthenia gravis, pemphigus and pemphigoid, chronic inflammatory demyelinating polyneuropathy (CIDP), and primary immunodeficiency (PI), this means you. You are at a much greater risk for getting sick with the flu and at greater risk for developing complications like pneumonia if you do. If you have heart disease, cancer, or diabetes, getting the flu can also make these conditions worse.

Getting the flu vaccine, however, is not a straightforward decision for some who have these conditions. For example, some people with a history of Guillain-Barré Syndrome (GBS) may have developed this form of muscle paralysis after receiving an influenza immunization. According to the GBS|CIDP Foundation International, the association between GBS and flu vaccines is inconclusive, but they suggest these individuals avoid the vaccine in the future. If you have had GBS, especially if it developed four to six weeks after getting a flu shot, you should talk with your doctor about the risks and benefits of getting the vaccine again.

Another consideration is the aerosol form of the flu vaccine. This is a live attenuated (weakened) influenza vaccine that is given through the nose. While the injected vaccines are made with inactivated virus, the nasal spray is made with live organisms that have been weakened but are still able to activate the body’s immune response against the disease.

The intranasal vaccine is not recommended for those younger than two, older than 50, or those who have a weakened immune system, including some patients who take immune suppressing medications. If you care for or live with someone who is immune compromised, you should also avoid the nasal spray. And if you have an underlying medical condition that puts you at risk for developing severe complications from the flu (such as chronic lung disease, heart disease, kidney disease, liver disorders, neurologic and neuromuscular disorders, blood disorders, and diabetes), it’s important to check with your physician before taking the nasal flu vaccine.

According to the Immune Deficiency Foundation, those with certain forms of immune deficiency (common variable immune deficiency [CVID], severe combined immune deficiency [SCID] or Bruton’s agammaglobulinemia) are unable to develop protective immunity following vaccination. This means their bodies don’t have the infrastructure to develop the immunity needed to keep them from getting sick, so vaccines will not do them any good. In fact, for individuals with these forms of PI, live vaccines—including the influenza nasal spray—may put them in danger of developing severe disease.

The only reason not to get a flu shot is if you have a severe, life-threatening allergy to the vaccine or any of its ingredients. This might include gelatin, certain antibiotics, or other ingredients. If you get hives when you eat eggs, studies have shown that most times you can still get the flu shot. If you have a more serious reaction to eggs or you are worried about this, you should of course talk with your doctor. Egg-free alternative vaccines are available.

The CDC has more information about seasonal influenza and how to prevent it.

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Clinical Trials for Rare Diseases

The idea of clinical trials is much in the news these days as medical researchers work hard to identify new treatments and vaccines for COVID-19. A clinical trial is a formal research study that, among other things, tests new therapies to see how well they work and if they are safe to use in humans. It’s an essential step in the Food and Drug Administration’s (FDA) process for approving new therapies.

For those who live with rare diseases, though, clinical drug trials have a more direct impact on their day-to-day lives. Many rare disease patients have few or no options when it comes to effective treatment of their symptoms. Even when medications with confirmed effectiveness are prescribed, they often are used without FDA approval (a practice known as off-label use), which sometimes makes it difficult to get insurance to cover the cost.

Getting new medications to market requires extensive testing in order to attain FDA approval. These studies need to have a sizable number of participants in order to show accurate results. That’s not a problem for common diseases like heart disease and cancer. But with so few people with diseases like myositis, myasthenia gravis, or pemphigus, it can be difficult to get enough qualified participants to show clear results.

That’s why many of the patient organizations that we work with encourage their members to consider taking part in a clinical trial if at all possible. This can be a big decision, one that you should discuss with family members and your doctor to be sure they are comfortable with your participation and the role they may need to play in the process. But it’s a great way feel like you are contributing to a cure.

Clinical trials are not limited to testing medications, but here we focus on clinical trials testing safety and effectiveness of new drugs. We’ve outlined answers to some common questions that can help you understand the general process of participation in such trials. Specific questions about a particular trial can be answered by the study coordinator of that trial.

How does a clinical trial work? Each clinical trial follows a strict set of rules outlining who can participate, what processes will be done, how participants are protected against risks, how long the trial is expected to last, and more. This protocol is designed to clearly answer specific research questions about the treatment. These protocols are outlined for all medications being tested in the US on the NIH website ClinicalTrials.gov. Here you can search for a trial based on disease, drug, location, or other criteria. Each trial also has contact information for additional information.

What is informed consent? All research participants have the right to know exactly what they are getting into. Informed consent is the process of providing you with essential information about the study before you decide to take part. Members of the research team will provide written and verbal explanation of the details of the study, including its purpose, how long it’s expected to last, tests or procedures that will be done as part of the research, and who to contact for further information. All known risks and potential benefits are also explained and included in the document. Before you decide to sign this document (which means you agree to participate) you should ask questions and be sure you understand everything included in it. It’s important to note that taking part in a clinical trial is voluntary, and you can leave the study at any time. 

Why do some patients not receive the treatment? Clinical trial protocols often involve comparing outcomes of patients who receive the new drug or treatment with those who are given a placebo (a non-active substitute). Most times neither the researcher nor the participant knows whether the drug or a placebo is being given. Participants are usually randomly assigned to the treatment or the placebo group. In this way, researchers can clearly see that the medication was responsible for the effect and not some other cause, such as participants getting better on their own.

What are “phases” of clinical trials? New medications and other treatments take place using a step-by-step process that begins in the laboratory (preclinical phases) then moves on to testing in humans. Each of these phases seeks answers to different questions.

These are the questions posed during each of the phases:

  • Phase 1 – Different doses of the drug are tested for the first time in a small group of healthy people—usually less than 100.
    • What are the side effects?
    • Is this drug safe to continue testing?
  • Phase 2 – The drug is tested in a larger group of people who have the disease—ideally a few hundred (but usually fewer in rare diseases).
    • What are the side effects in this population?
    • Does the drug work as treatment for this specific disease?
  • Phase 3 – The drug is tested in a much larger group of people who have the disease—ideally several hundred to several thousand.
    • What are the side effects?
    • How well does the drug work to treat the disease?
    • How much of the drug should people take?
    • How does the drug compare to currently available treatments?
  • Phase 4 – This phase happens after the drug is approved by the FDA and is being used by patients.
    • What are the long-term effects of the drug?
    • What is the best way to use this drug as treatment?
    • Are there other risks to using this drug?
    • Are there other benefits not previously identified?

How safe are these experiments? While all medical interventions carry some amount of risk, those who participate in clinical trials are not “guinea pigs.” The FDA requires researchers to include in their protocols certain measures to ensure the study is ethical, that the rights and welfare of participants are protected, and that the risks are reasonable when compared to potential benefits. And all research organizations require any protocol that involves human subjects to be reviewed, monitored, and approved by an independent Institutional Review Board (IRB) of scientists and ethicists.

You can learn more about clinical trials at the National Institutes of Health (NIH) website.

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Advocacy Patient stories

Disability Benefits in Danger

Andrea Williams had a panic attack when she opened her mail earlier this year. Her hands were shaking even before she tore into the envelope from the Social Security Administration (SSA). The letter inside informed her that, according to SSA, she was no longer disabled and would no longer receive disability benefits, including Social Security Disability Income (SSDI) and Medicare.

Andrea is one of thousands of American citizens who are unable to work because of severe, chronic health problems who can expect to receive these notices in the coming year. This is because SSA wants to cut $2.6 billion dollars from SSDI and its sister program Supplemental Security Income (SSI) by changing the rules they use to terminate people like Andrea, who have depended on the disability safety net for years.

Six years ago, Andrea was diagnosed with a rare, debilitating disease of the muscles called myositis. She had trouble lifting her head, she couldn’t pick up her newborn baby, she couldn’t climb stairs, she couldn’t even lift her arms enough to wash her hair. For months she went back and forth to the doctor saying, “I feel like I’m dying.” It wasn’t until she was referred to a specialist and ended up in the hospital for a week that she was finally diagnosed.

Myositis causes chronic pain, disabling weakness, and extreme fatigue. Treatment has helped Andrea, but she has lost too much muscle tissue that she will never regain. She can’t stand for any length of time, she drops things, and the brain fog from her medications makes it difficult for her to think. Her doctor told her she would never work again. When she applied for SSDI benefits in 2016, her application was accepted on the first try, which almost never happens.

“I’m scared to death,” she says. “My biggest fear is not having the medications, and I already can’t afford the doctors.”

An “Explanation of Determination” letter like the one Andrea received is a notice an SSDI or SSI recipient gets when they have been identified by SSA for “Continuing Disability Review” (CDR). This is the agency’s review process to see if beneficiaries are still medically eligible for the program. After this review, if SSA believes the person no longer meets their criteria for disability, their benefits are terminated.

A medical CDR is done at least once every three years, unless the SSA expects your medical condition to improve sooner. Those who have a medical condition that is not expected to improve undergo a CDR every seven years.

A rules change that took effect earlier this year, however, dramatically increases how often a person must undergo a CDR review. This change adds a new category for those whose condition is “likely to improve.” Hundreds of thousands of people now in less frequent CDR categories will be moved into this new category to be reviewed every two years.

This new rules change is especially disturbing because it targets people like Andrea who have chronic conditions that flare up unpredictably. Those who are approaching retirement age and those with mental illness are some of the other people this rules change aims to remove from benefits.

“If you get one of these letters, the first thing you need to do is notify Social Security that you want to appeal this decision,” says Michelle Vogel, CSI’s vice president for patient advocacy.

To appeal, you need to submit a Request for Reconsideration form within 60 days of receiving the notice of denial of benefits. If you want to continue receiving benefits while your case is being decided, you will need to submit this form withing 10 days of the denial, and you need to specifically ask that benefits continue. Be aware, however, that if your case is unsuccessful, SSA can require you to return the overpaid benefits.

Andrea has followed this advice and is awaiting a response from SSA. She is hopeful that, with the support of her doctors and her patient advocate, her appeal will be granted and she will once again be able to sleep at night.  

For others like her, Andrea offers this advice:

“You have to reach out and get some help from someone like a patient advocate,” she says. “You have to have your medicine. You have to see your doctors. You can’t take no for an answer.”

CSI Pharmacy has patient advocates who can help you navigate this and other health care access challenges. We offer this service regardless of whether you are a CSI Pharmacy patient.

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Advocacy CSI Pharmacy stories

CSI Pharmacy’s Plasma Donor Superhero

Maddie was in high school when she developed juvenile dermatomyositis, a rare autoimmune disease of the muscles that made her so weak she couldn’t walk. Bill developed myasthenia gravis, another autoimmune neuromuscular disease, after having anesthesia for bypass surgery. Amanda and her daughter have immune deficiency diseases that make them susceptible to all kinds of infections. Immune globulin (IG) has been a life-saving therapy for all of these individuals.

IG is one of a number of treatments that can only be made from donated human plasma. This year, as a result of coronavirus restrictions, plasma therapeutics companies have experienced a significant drop in donations, which will limit supplies of plasma products such as IG by the end of the year. For patients, this is their worst fear. It means they may not be able to get the medications that allow them to live a normal life.

When Justin McNeill learned that plasma donations were down by as much as 40%, he thought of patients like Maddie, Bill, Amanda, and her daughter. Much of CSI Pharmacy’s business involves providing home infusion services for those who depend on IG therapy. As a delivery technician for CSI Pharmacy, it’s Justin’s job to pack up shipments of immune globulin and the supplies needed to administer it and make sure it all gets to the patient’s home in time for their infusion. 

In the spring, CSI Pharmacy joined the Immunoglobulin National Society in an effort to raise awareness about plasma donation and to inspire more healthy donors to contribute. As part of that effort, the company initiated an internal contest to encourage employees to become plasma donors. Justin was among the first to respond.

“We were told that with all the coronavirus restrictions, people aren’t donating plasma as much,” Justin says. “That means patients aren’t going to be able to get the medicine they need. I figured I’m able to give, so there’s no reason not to.”

Justin started donating in May and has given twice a week ever since—the maximum weekly donations allowed. To date, he has donated plasma 24 times. And even though he works full time and goes to school in the evenings, showing up at the BPL Plasma donation center is part of his weekly routine. He plans to keep on giving as long as they’ll let him.

Justin may have run away with this contest, but he’s not the only CSI Pharmacy employee to participate in the plasma donor drive. Eleven other members of the staff have also donated at least twice. (Regulations require two donations before the plasma can be used to make plasma protein therapies like IG.)

The rules governing who can qualify as a plasma donor are very strict. Justin, who is 24 years old and healthy, had no problem qualifying. When several other employees attempted to donate, however, they were turned away because they have chronic health conditions or other restrictions. This only made Justin more committed to continue donating.

“I knew a lot of the people here in the office couldn’t donate because of various health issues or medications, so I said, why not me?”

“Justin is very modest,” says James Sheets, CEO of CSI Pharmacy. “I know he doesn’t like to call attention to himself. But for us he is a superhero. We are pleased that our employees take this so seriously and are willing to donate plasma. And we’re extremely proud of Justin for his ongoing commitment to making plasma donation a part of his life.”

For Justin, it’s all about Maddie, Bill, Amanda and her daughter, and others for whom he packs up the products and supplies for their home infusions. He urges anyone who qualifies to consider becoming a plasma donor.

“We’re probably about to get hit with a really bad shortage of IG products,” he says. “Our patients need this medicine that’s made from human plasma. We’ve got a lot of people who are really sick and really need this medicine. Even donating just twice will help save lives. You can make a big difference.”

As the winner of CSI Pharmacy’s Plasma Donation Incentive Program, Justin McNeill was presented with a trophy and a monetary gift during a ceremony in September.

Find a plasma donation center near you.

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Be an Advocate

COVID-19 was the last thing on Michelle Vogel’s mind the day she raced to South Florida to care for her elderly mother who had fallen in her home. Her mom hadn’t been feeling well that week. She thought she had a urinary tract infection again. As it turned out, Judy Vogel had COVID pneumonia. She died a week later in ICU.

Michelle is the head of CSI Pharmacy’s Patient Advocacy team. Since the beginning of the pandemic, she has tirelessly insisted that everyone needs to wear a face mask, wash their hands or use hand sanitizer, and maintain social distancing. And she walks the talk. She knows that the lives of the immune compromised patients she cares for depend on this.

It never occurred to her, however, that she would need to protect herself from her own mother. Judy lived alone. She rarely left the house. And she took precautions. No one knows how she might have contracted this highly contagious condition, but she gave it to her daughter.

Five days after learning of her mom’s diagnosis, Michelle herself tested positive for COVID. As someone who lives with several rare, chronic conditions, she knew her chances of developing severe COVID pneumonia were high, and over the next few days she did become very sick.

“I’ve had migraine headaches, but they’re nothing compared to COVID headaches,” Michelle says. “And I’ve never been so tired. I’ve never had so much pain in my legs that they just give out. The coughing is worse than any bronchitis. And then it’s just odd to lose your smell and taste. My stomach, the diarrhea, the chills and fevers…it just hits every part of you. I even have skin lesions.”

With the support of daily telemedicine checks, Michelle battled the disease at home for a week. Her doctors started her on a corticosteroid (prednisone), which has been shown to reduce lung inflammation in COVID patients. They tried azithromycin (Z-Pak), which has antiviral properties, although it has not been reliably tested in COVID patients.

They also ordered cough suppressant medicine and a portable nebulizer that helped her to breathe in a bigger dose of medication to open her lung passages. From an online supplier, she ordered a pulse oximeter (a medical device that fits over your finger) to be sure her blood oxygen levels stayed adequate. Still, she ended up in the hospital with COVID pneumonia.

“There’s a lot doctors can’t see on a telemedicine call,” she says. “They don’t see you when you’re gasping for air. They can’t listen to your lungs to hear how congested you are. And how do you get a chest x-ray or labs drawn when you’re too exhausted to drag yourself out of the house?”

Michelle is the person many rare disease patients turn to for advice on navigating the maze that is our healthcare system, overcoming health insurance obstacles, and accessing the expensive therapies that keep them alive. She is an expert who loves sorting out these challenges.

So during the week she spent in the hospital, Michelle became her own advocate. She knew, for example, that remdesivir (an antiviral medication) and convalescent plasma (blood serum with antibodies from COVID patients who have recovered from the disease) had shown some positive results, so she requested these. She also asked about other treatments and was offered a clinical trial to test a new biological therapy.

While no one expects to come down with COVID—or any other disease, for that matter—Michelle’s experience shows the importance of educating yourself about whatever condition you find yourself burdened with. Know what drugs and therapies are used to treat the disease and ask if they might be right for you (or your loved one). And if you don’t understand what the doctors are saying, ask questions until you do.

“COVID-19 has affected all of us in one way or another,” Michelle says. “I have stayed vigilant in wearing my mask and isolating to stay safe. I never imagined that it would touch my family, take my mother, and leave me battling with COVID pneumonia. Please stay safe so this doesn’t happen to you or someone you love. And if it does, be an advocate for yourself or your loved one.”

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Can’t be Complacent with COVID

Judith Vogel had lovely hands, always perfectly manicured, and beautiful, beautiful eyes with long lashes. She taught fifth grade for most of her life in Montville, New Jersey and saved every letter her daughter Michelle wrote to her from camp as a child.

At 81, she lived alone, but she enjoyed a full social life: playing canasta and mahjong, going to movies, eating out. She had lots of friends. With this year’s pandemic restrictions, though, Judy lost all that. All she could do was sit at home and watch the news and fret. She was afraid she would get sick. And she worried about our country, all the hatred she saw. All the fear.

What she really wanted was to see her grandson get married (his wedding was postponed twice because of the pandemic). And on her birthday, November 3, she wanted to celebrate by voting for Joe Biden. He could turn things around in this country. She was convinced.

Judy will enjoy neither of these dreams. She passed away on August 20. She died, as she feared, of COVID-19.

It was a Thursday morning. Michelle hadn’t been able to get her mom on the phone for two days. She threw some things in the car and drove the 300 miles to South Florida. She made it in record time. On the way, she called her cousin who lived closer and asked her to go check. They found Judy on the floor. She had probably lain there for a full day.

When the paramedics arrived, they decided she was OK. She was conscious. She didn’t have a fever. She wasn’t coughing. They didn’t want to risk taking this elderly lady to the hospital where she might catch COVID.

When Michelle got there, her mom was sitting comfortably in a chair, sipping fluids. She made an appointment for Judy to be seen by her primary care provider the following morning. Judy had a history of urinary tract infections (UTIs). Michelle assumed that’s what was making her confused and fatigued. That and the fact that she’d lain on the floor for the last 24 hours.

Michelle, who serves as CSI Pharmacy’s Vice President of Patient Advocacy and Provider Relations, took her mom to the doctor and got her started on treatment. But that afternoon, when Judy was too weak to stand up from a chair, Michelle knew something more serious was going on.

She had to call 911. It was the only way to get her mom to the emergency room. But she couldn’t go with her; no one is allowed in hospitals these days except the patient. That evening when she called the hospital, she learned that Judy had tested positive for COVID. Judy was in ICU. Soon she would be on a ventilator. Michelle would never see her mom again.

“I was shocked,” Michelle says. “I thought she had a UTI. I didn’t put the symptoms together. I never thought of COVID.”

Looking back, Michelle realizes there were a lot of signs she missed when she talked to her mom every day. She thought, for example, that her mom’s decreased appetite was related to the isolation and depression Judy was feeling. But maybe she wasn’t eating because she couldn’t taste or smell. These are symptoms of COVID.

Judy complained of headaches and muscle aches, but she didn’t have a fever. She just thought she was coming down with a cold. When Michelle talked to her mom’s best friend, though, she said Judy had been coughing for weeks. Maybe she’d been sick for weeks, but no one realized it. Judy didn’t like to bother anyone.

The thought of her mother lying on the floor alone all day and all night before she was finally found will never leave Michelle. But even as she moves through her own grief, Michelle wants her family’s experience to serve as a lesson for others.

“Isolation is hard on everyone,” she says, “but it is especially difficult for our seniors. It affects us both physically and emotionally. It can be really horrible. But as much as people want to be more socially active and get back to their lives, this virus is going to go on for years. And the more complacent we are, the more severe it will be. We can’t assume COVID hasn’t affected anyone in our personal circle. We still need to take precautions. We need to be safe.”

Secondly, she wants people to be aware that COVID is a threat that is with us everywhere, and that coronavirus should be at the top of our minds at all times.

“We don’t really understand all the symptoms of COVID-19,” she says. “A lot of patients never present with a fever, but they have all these other symptoms: severe headaches, body pain, diarrhea, rashes, weakness, tingling toes…all kinds of things. We need to understand that there are many more symptoms than just the cough and fever that you always hear about. And if you are feeling bad, you need to get yourself to the doctor.”

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Patient stories

Rolling with It

When Linda Matthews started having trouble standing up out of a chair, she wasn’t surprised. She was 70 years old, about the same age as her mother when she was diagnosed with inclusion body myositis (IBM).

“I was her caretaker, so I knew all about IBM,” Linda says. “As soon as I started showing symptoms, I went to my doctor and I said I’ve got IBM. They did the muscle biopsy and the bloodwork and the EMG. Within a week, it was definitely diagnosed.”

Often when someone is diagnosed with a disabling condition like IBM, they rely on their partner or a family member to care for them as the tasks of daily living become more difficult to manage alone. Linda, however, was already serving as caregiver for her husband Bill, who had been recently diagnosed with a different rare, autoimmune muscle disease: myasthenia gravis (MG).

In March of 2012, Bill had heart bypass surgery. About a month or so later during a routine eye exam, his ophthalmologist noticed his eyes looked a bit droopy. Linda’s brother, who had a friend with MG suggested he see a neurologist. When he did, it didn’t take long for the diagnosis to be confirmed. Bill says his neurologist thought it was the surgery that set it off.

Despite their disabling diagnoses, the Matthews do not despair. In fact, sharing similar diseases makes them more sensitive to each other’s needs. They have many of the same symptoms—muscle weakness, fatigue, mobility challenges—so they each understand, for example, when the other says they need to rest.

“Nothing is as important as getting the rest you need and taking care of yourself,” Linda says. “And it’s good that I know he’s got my back. I can say, ‘No, not right now,’ and I don’t have to justify it.”

“Sometimes you can tell when the care partner doesn’t understand that,” says Bill of other couples they’ve met. “And you can see how difficult it makes it for the person who’s got the disease. In a way, it’s to our advantage that we understand firsthand what the disease is doing to each other. We don’t have to have that fight.”

Having her mother pave the way for her has also made Linda’s journey just a bit easier. She knows what to expect, and she can plan accordingly as her muscle weakness progresses.

When she saw a Hoyer lift at an estate sale, for example, she scooped it up, knowing that one day it may come in handy if she starts having trouble moving from the bed to the chair. She has a motorized wheelchair that somebody gave her. It’s parked in the garage, though, since she still gets around fine with a rollator. The couple also recently traded their car for a wheelchair accessible van.

When they downsized their home earlier this year, Linda and Bill moved to a one-story (stairs had become a challenge) duplex next to their daughter’s family. Before they moved in, they remodeled the house to accommodate their future needs, adding a roll-in shower, raised toilets, grab bars in the bathroom, and wider doors that will accommodate a wheelchair.

The one thing that couldn’t be retrofitted for accessibility, though, was the kitchen. But Linda just winks and says, “Maybe by then I’ll teach Bill to cook, because I’m the one in the wheelchair.”

That’s not a problem for Bill. “We’ve been married for 56 years. We know how it’s done,” he says.

Linda and Bill feel very lucky to have the support of their family. They love living next to their daughter, son-in-law, and nine-year-old grandson and call on them when they need a hand. When they want to give their son-in-law a break—like when Bill needed to get to the hospital recently for cataract surgery—one of their two sons is always willing to step in and help out too.

Being part of a patient support community helps the couple in other ways. They belong to MG Texas, an MG support group in the Dallas/Fort Worth area. And they are active in Northeast Texas support group of The Myositis Association as well as on Facebook forums through Myositis Support and Understanding.

Getting together with others who share their disease helps Linda and Bill learn the medical ins and outs of both diseases, so they are better able to care for themselves and each other. It also gives them access to a whole pool of practical information that’s not readily available elsewhere: things like who is the best neurologist in a certain area, or tips and tricks people have used for managing certain challenges.

“The myositis Facebook site is wonderful, because people ask questions, and a lot of times it’s a question I have too,” Linda says. “And then in the MG group, we love it when we are able to go to the meetings. They’re always interesting, with new speakers and new ideas. It’s also nice getting to know other members who are in the same situation as we are.”

While living with conditions they know can cause significant health concerns, Linda and Bill remain upbeat.

“My mother was a wonderful example for me how to live my life with this disease,” Linda says. “You just roll with it and try to figure out another way of accomplishing your tasks.”

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Partnering with Patients to Solve the Mystery of Myositis

When Lisa Christopher-Stine, MD, MPH and her colleagues formed the Myositis Center at Johns Hopkins University 13 years ago, they wanted to create a place where those affected by this collection of rare autoimmune muscle diseases could receive the very best care possible. The Center is a patient-centered, multidisciplinary clinic in which specialists in rheumatology, neurology, pulmonology, and rehabilitation come together to collaborate in the care of these very complex patients.

The Center also aims to better understanding myositis diseases and help develop new, more effective treatments. One way they are doing this is by partnering with patients. From the very beginning, the Center’s clinicians and researchers invited all of their patients to be part of a large, long-term registry, a research database that included blood samples, DNA, and clinical information acquired during clinic visits. This database now includes information from about 2,500 patients.

“That clinical care–research interface is an important way to think about rare diseases,” Dr. Christopher-Stine says. “You need lots of data points in order to see patterns that you just can’t see in caring for one, two, or three people. Especially when you follow people over time, you can look back and compare that data with their blood samples and DNA and find things that you weren’t even sure were true when you saw the patient in real time.”

Recently, this database facilitated one of the most significant discoveries in myositis. For many years, Dr. Christopher-Stine and her colleagues heard from patients that their muscle weakness and fatigue came on after they started taking statin medications, a widely used drug to lower cholesterol and prevent heart disease. The weakness didn’t go away after they stopped taking the drug, and the cardiologists who prescribed it said that meant their symptoms were unrelated to the statin. Scientists at the Center proved that wasn’t true.

“It’s a great example of how patients drive what we do,” Dr. Christopher-Stine says. “After a while, you hear that story enough times and you say that’s really curious.”

She remembers vividly the evening a young research assistant came up to her after clinic and said, “This is an unusual antibody here. What do you think this is?”

The research assistant, Grace Hong, had been working with Dr. Christopher-Stine in concert with the Myositis Center team, including Dr. Livia Casciola-Rosen PhD, an expert on autoantibodies, to understand how autoimmune diseases work in the body.

What Grace had first noticed turned out to be a new myositis-specific autoantibody that had not been described before. After comparing a number of the patient samples from the Center’s database, it became clear that many of the patients who said their weakness started after taking statins were the same people who had those antibodies. Now we know that that antibody—Anti-HMG-CoA reductase (HMGCR)—is associated with a form of myositis called necrotizing autoimmune myopathy (NAM), which causes muscle cells to die.

This was a valuable discovery, but there is still much more to learn about myositis diseases and how we can help improve patients’ lives. Among the first tasks that must be achieved, says Dr. Christopher-Stine, is to get more drugs approved by the Food and Drug Administration (FDA) for treatment of myositis diseases.

While a number of medications are very effective in treating myositis, most of these are used “off-label,” meaning outside the official approved indications. Insurance companies often challenge these uses, causing delays in treatment as patients and providers fight for access.

Along with this goal is finding an effective way to treat inclusion body myositis (IBM). Currently, the only treatment available for this chronically debilitating form of muscle disease is exercise, which only serves to slow the progress of disability. Those who live with IBM are understandably desperate for any therapy that can improve their condition.

Besides new therapies, a consistent treatment protocol is needed that has been scientifically verified, rather than based on “what we’ve always done.” Currently, there is no such standardized formula for deciding which drugs to try first when a patient is diagnosed with dermatomyositis (DM), for example. Providers differ widely on how they use corticosteroids and other treatments, how they evaluate effectiveness, and when they add to or change the regimen. Patients often suffer prolonged or worsening symptoms because of ineffective protocols.

Dr. Christopher-Stine also suggests that even the way providers refer to these diseases is confusing and not based on the science. Specifically, she challenges the term polymyositis (PM), calling it a diagnosis of exclusion. When myositis diseases were first classified more than 40 years ago, someone with the typical pattern of myositis muscle weakness but without the rash associated with DM was identified as PM. Modern science has refined the picture of all forms of myositis, yet old terminology remains, causing confusion and possibly hindering further progress in understanding these diseases.

“We need to put people into the right category so that they’re studied properly,” Dr. Christopher-Stine says. “The way the disease works is very different between NAM, DM and PM. If you put too many people in one box who have entirely different disease states, you’re going to bias the results.”

If a drug company has a new drug, for example, they need to test it on a fairly similar group of patients so they can tell if it is effective. If the group they study includes both DM and PM patients, the results may be mixed rather than showing a strong positive effect. This may mean that a treatment that worked well for, say, DM patients shows statistically that it isn’t effective because it didn’t work well for PM patients. 

None of these challenges are insurmountable, however. The myositis research community is one of the most collegial communities in academic medicine. Myositis experts from the Johns Hopkins Myositis Center are working together with colleagues from around the world to solve these and other questions with the goal of improving the lives of those who live with myositis diseases.

“I dream that one day we can take care of people with targeted therapies that are personalized just for them,” says Dr. Christopher-Stine. “When I retire, I want to leave the field knowing that I and others made a significant contribution to this personalized approach for all myositis patients.”

With the collaboration of the myositis research community along with data from patient registries like the one established at the Center, Dr. Christopher-Stine is optimistic they will achieve this goal.

The Johns Hopkins Myositis Center is one of the most highly respected centers in the country. It brings together a wide range of clinical expertise in rheumatology, neurology, pulmonology, and physical medicine rehabilitation along with basic science research. Patients with a suspected or confirmed diagnosis of myositis from across the country can be evaluated at the Center, with follow-up consultations with local practitioners.

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Patient stories

Service Dog Brings More than Self-sufficiency

Bitsy Anderson was literally teetering on the edge of a cliff when she started taking seriously the muscle weakness she had been feeling off and on for a while. She and her husband Terry were hiking in Utah, and she was stuck. She had lost her sense of balance, kept tripping over nothing, and needed help to get down off that mountain. In hindsight, symptoms like these had been creeping up on her for years.

That was twelve years ago, and Terry had just retired. The couple was planning to spend their golden years traveling. They had just bought a pair of matching bicycles. They had taken some paddling lessons and were about to buy a couple kayaks. But when they returned home after the hiking trip Bitsy was diagnosed with a rare muscle disease called inclusion body myositis (IBM), a disease that causes disability through increasing muscle loss in one’s legs and arms, difficulty grasping objects, and often trouble swallowing.

“IBM has pretty much changed our whole life,” says Bitsy, who leads the Maryland/Delaware/DC/Northern Virginia support group for The Myositis Association.

“It’s had an impact on both of us,” Terry says. “But it’s an impact we share, and we’re doing the best we can.”

Perhaps the hardest change for Bitsy was adapting to the loss of her independence. As her disease progresses, she’s had to give up driving, has trouble putting on her shoes and managing the housework, and she is always dropping things. She does not like having to constantly call on Terry just to get through the day. Fortunately, a fair-haired helper recently arrived.

Maya, an English Labrador retriever and Bitsy’s service dog, officially arrived in January of this year. Now it is her job to bring in the newspaper, help with the laundry, open the freezer, find things Bitsy has dropped, and dozens of other little tasks that make Bitsy more self-sufficient. She even helps Bitsy on with her jacket and off with her shoes.

“I don’t think she could have come to our home at a better time,” Bitsy says. “Maya makes it possible for me to maintain my independence and also adds an element of fun. If she hears the click of the brakes on my walker, in two seconds she is right by my side to see what she can do. She is very devoted.”

Aside from the help she provides for Bitsy, Maya has brought an added dimension of joy to the Anderson’s lives. Both Terry and Bitsy love her like a family member.

We love to play with her,” Terry says. “We take her out to the backyard. I will throw the tennis ball, and she always brings it back to Bitsy. It is a good opportunity for us to be outside and enjoy each other. It’s good exercise for her, too.”

“She loves to have her belly rubbed, but I can’t get down on the floor anymore,” Bitsy says. “So, when Terry comes along, she jumps all over him, so he’ll scratch her belly.”

Maya came to Bitsy from Fidos for Freedom, a local volunteer organization that trains service, hearing, and therapy dogs. Fidos is a member of Assistance Dogs International, Inc., a worldwide coalition of nonprofit programs that creates quality standards for assistance dog acquisition, training, and partnership. Fidos also educates the public about individuals with disabilities and about the benefits of assistance dogs and therapy dogs.

As Bitsy and Terry learned, getting a service animal is a big commitment. And the process is far from simple…or easy! Years of training are involved, and not just for the dog. Maya spent a year with a puppy trainer, becoming socialized and learning basic commands before coming to Fidos to find a partner.

Bitsy was accepted into the program in September 2017 and spent more than two years participating in twice-weekly training sessions before she was matched with Maya and allowed to bring her home. Even now Maya’s stay is probationary for a year before her adoption is final, allowing Bitsy and Terry to be certain the arrangement is working out. And even when their probation is over, Bitsy can still consult with a trainer to help her figure out how to help Maya adapt to her needs.

“The program is intense,” Bitsy says. “There was a time I almost quit. There were days when I came home from training saying, I am not doing this anymore. But you must have perseverance. You have to hang in there.”

Terry agrees. “You have to go into the program with your eyes wide open, knowing that there is a commitment there.”

Both Terry and Bitsy are thrilled to have Maya in their lives now and cannot even imagine giving her back at the end of the year. And once the limitations of the coronavirus pandemic have passed, they look forward to getting out into the world again. While they may not be traveling internationally again, they do hope to flee to Florida for winters again and to explore some or our beautiful National Parks. And they will have Maya right beside them.

“This has been a great experience,” Bitsy says. “You just have to go with the idea that I’m going to do this no matter what it takes, that it’s going to be a benefit. It really is well worthwhile.”

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Patient communities

Connecting with Patients is the Reward

As a research scientist, immunologist Huub Kreuwel, PhD never really worked with patients. He spent most of his time in an academic lab, trying to understand the basic biology of certain diseases and identifying molecules that could serve as targets for new therapies. He never got to see what happened in the later stages of drug development—that part where patients got better because of the discoveries he’d made.

When he left academia to serve as medical science liaison at Johnson and Johnson, however, he discovered a whole new experience. Now, years later, as Vice President for Scientific and Medical Affairs in the United States for Octapharma, talking to patients and providers about the plasma-based products his company produces is the best part of his job.

“When I came out of academia, I found it was very satisfying to actually talk to a patient who had tried our drug and had good results,” he says. “As an immunologist, it made sense to work on a lot of these rare diseases like primary immune deficiency and dermatomyositis. And it’s gotten more and more interesting over the years.”

Working in the medical affairs department also offers the opportunity to get involved with a wide variety of projects. Huub and his team work with regulatory agencies when the company is seeking approval for new products. They help set up clinical trials to test new therapies and answer physicians’ questions about how those therapies work. Best of all, he meets the people who benefit from Octapharma’s treatments, such as immune globulin (IG) therapies, and helps them enroll as research subjects in the company’s clinical trials.

Recently, the company completed a trial testing intravenous immune globulin (IVIG) therapy in patients with dermatomyositis (DM). While the results have not yet been made public, Huub says the trial did meet its primary endpoints, so it looks very promising that Octagam 10% will eventually become one of the few FDA-approved treatments for this disabling disease that affects the skin and muscles.

Part of what made this trial so successful was the feedback Huub and his team received from patients. In the process of developing the clinical trial, they worked with patient organizations, including The Myositis Association and Myositis Support and Understanding, to understand how patients experienced the disease so they could improve the study protocol and to help recruit participants for the trial.

“We work on a lot of orphan drugs,” Huub says. “And there aren’t that many patients sometimes, so we need everybody to help us to finish these trials. It worked quite well in the DM trial. Those were very productive relationships.”

The success Octapharma had with this phase III clinical trial with DM will also pave the way for future clinical trials for this indication. When rare diseases have few previous clinical trials, researchers often fumble to find tests that will tell them whether a particular drug is working or not. Octapharma’s trial in DM not only proved that the treatment was effective, it also showed that their measures of effectiveness worked in this patient population.

Huub is now developing protocols to test Octapharma products with other diseases. Among these are pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS for short—a disease in which psychiatric symptoms such as obsessive-compulsive disorder appear suddenly after a strep infection) and secondary immune deficiency (SID—a problem that occurs when immune system deficiencies occur because of something other than genetics, such as HIV or chemotherapy).

As they did with the DM study, he and his team are talking to patients to get input that will improve these studies. One way they do this is by recruiting an advisory board of about a dozen patients who spend the day with company representatives sharing their experiences and suggestions. These open-ended discussions provide insights into all manner of ideas: how to better explain data, ideas for new trials, how patients need to be supported during a trial, and more.

“Those discussions are really good for the company, and usually they’re very productive,” Huub says. “Often patients have ideas for new products or practical solutions that might make our products better. And a lot of times it actually has led to either different products or different marketing material or revamping our website or providing patient education sessions.”

These days the thing that has captured Huub’s interest is COVID-19. Healthcare providers on the front lines of the pandemic are finding success in treating the virus with IG. In fact, recent events have made Octapharma a leader in exploring new therapies for COVID-19.

The company is currently supporting two investigator-initiated projects—one testing IVIG as a treatment for COVID-related respiratory failure, the other using IVIG and steroids to treat COVID-19 patients who are developing heart problems. Octapharma is also conducting their own phase III clinical trial to see if high-dose IVIG can be used to improve severe COVID-19 symptoms. Initial results from the investigator-initiated study with COVID-related respiratory failure are very promising.

“Of course COVID is horrible,” Huub says. “But it also became an opportunity for us to delve deeper into IVIG and how it can potentially work in that disease. It’s very satisfying for me personally and for my team to try and come up with other drugs that could help COVID. So overall, it’s been a very interesting ride.”