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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. 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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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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Patient communities Patient stories

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.”

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Patient stories

When You Need a Little Help from Your Friends

Madison Davis had been planning her career in the military since she was seven or eight years old. Living near the Naval Academy in Annapolis, Maryland, she joined the Naval Sea Cadets and was intent on moving up through the ranks. She strategized her high school resume to help her get accepted into the Coast Guard Academy, as a soccer player, if possible.

“She was obsessed with the Naval Academy,” says her mom, Christine Davis. “She always wanted to visit there and wear the uniform and work on advancing her ranks. She was a big creator, too, a lego girl, up until she was 13 or so. She always talked about wanting to work on Lear Jets, fixing planes. She always knew what she wanted to do, and she was excited.”

In May 2017, however, gazing down at her daughter lying limply in a hospital bed as doctors gave their diagnosis, a strange, rare disease that seven weeks earlier had weakened Maddie’s muscles, given her a rash over large portions of her body, and paralyzed her into the worst pain she’d ever experienced, Chris cried. Not only was her daughter suffering, but she knew all Maddie’s dreams had just been evaporated by an autoimmune disease they couldn’t even pronounce: juvenile dermatomyositis (JDM).

“I was so numb to everything in the hospital. It really didn’t hit me,” Maddie says. “I wasn’t actually facing all these things I had just lost. I was just on to the next thing. Like, okay, so what do I do now? What schools do I apply to now? I didn’t really give myself a lot of time to deal with it in the moment. And believe it or not, I felt like I was handling everything very well.”

The next few years were difficult for Maddie. She is fortunate that she lives near one of the world’s leading Myositis Centers at Johns Hopkins University, so the medical treatment she received, including prednisone, methotrexate, and intravenous venous immune globulin (IVIG) therapy, was excellent and effective. Her mental health, however, was a different story.

Maddie missed out on much of the excitement of her senior year of high school because she was too weak to participate in many of the activities. Not only was her athletic strength gone, but the prednisone, a steroid medication, made her gain weight and gave her what she calls “’roid rage,” making her emotionally erratic. She lost friendships, because she missed a lot of school and couldn’t go out on weekends, and her friends just didn’t understand why she was behaving so strangely.

“She suffered a lot in many different ways,” Chris says. “We were just trying to survive it every day and trying to seek answers to make it better.”

Maddie and Chris did find answers, mostly from others who live with rare diseases and know what Maddie was going through. On her first outing after spending three weeks in the hospital followed by two weeks in rehab to relearn how to walk, Maddie and Chris attended a local support group meeting of The Myositis Association (TMA). The speakers at that meeting happened to be three members of the CSI Pharmacy team, talking about immune globulin (IG) therapy and home infusion.

During the presentation, a representative from CSI Pharmacy shared her own journey with myasthenia gravis—another rare autoimmune disease—and IG therapy. In her talk, she described how her disease had ended her career as a Navy nurse, and how hard that was to deal with.

Maddie remembers glancing at her mother and whispering, incredulous, “Did she just say she was in the Navy?”

After the talk, Maddie and Chris approached the speaker and shared Maddie’s similar regrets about losing her own dream career in the military. After that, The two not only became good friends, but she also became Maddie’s home infusion nurse, allowing Maddie to receive her IVIG treatments at home rather than in the hospital infusion center. Later, when Maddie went off to York College of Pennsylvania, her new friend helped her learn how to give her own IG treatments subcutaneously (SCIG, under the skin, rather than in the vein).

The Davises also found out about Cure JM Foundation, a group more focused on children with myositis. They attended the Cure JM annual patient conference, and there Maddie befriended a group of other teens who also lived with myositis. It didn’t take long for Maddie to become a leader in this organization, one of the “older kids” who, the following year, helped lead the panels she had learned so much from the previous year.

Maddie discovered a passion for helping others through the rough spots of living with JDM. She had a Facebook page and website, Maddie Strong, where she talked about her challenges with her disease. Once she even posted a video demonstrating how she gives herself SCIG treatments.

Maddie may have powered through at the beginning of her disease, but eventually the walls started crumbling. During the summer before college, she started looking around and realizing how much had been taken away from her.

“That’s when I started dealing with depression,” she says. “I was thrown so much off course. It was really, really hard. I know everything happens for a reason and I’m really I glad to be where I am. I’m glad I’m at York. I’m actually really happy I’m not playing soccer. But it took a lot out of me.”

It’s the friends she met along the way, the other kids who share this disease and understand the journey, who have helped her get through that dark time.

“They have always been the first families that we’ve reached out to,” Chris says. “If she was feeling really low or like life isn’t worth living anymore or the medicine is just too much, she always had people to turn to who could walk her through it, because they’ve already been there.”

Now as she prepares to start her junior year of college, Maddie is strong. She’s an education major, making the dean’s list, works with K through eighth graders at the York City schools, and is an education technology entrepreneur with a fun teaching app for kids she’s hoping to market. Best of all, her disease is in remission.

Still, kids who are struggling with coming to terms with the life-altering experience of a disabling rare disease diagnosis like JDM are never far from this young advocate’s mind.

“The one thing that I wish I could tell parents is, for kids who are going through this, the mental health aspects are a really big deal,” Maddie says. “I would say focus your attention more on the fact that your kid is going through a lot of mental stuff right now. They are confused and they don’t understand and its really scary. Just talk about what’s going on.”

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Health Information

How to Reengage with Less Risk

We’re now four months into a global pandemic, and lots of us are just tired of staying home. Most of the folks in our patient communities, however, have underlying medical conditions that put them at higher risk for developing severe COVID-19 infections. So while others consider reemerging into the world again as states start lifting social distancing restrictions, our patients might be reluctant to take this step.

Still, completely avoiding contact with others for an indefinite period of time is not a viable option either. Human beings need physical and social contact with other human beings, if only to stay sane. The social isolation we’ve been enduring since shutdowns in March has caused serious anxiety and depression for a significant number of people, especially those who live alone.

Fortunately, public health experts say the decision doesn’t have to be either/or. While staying home is still the lowest-risk option for avoiding infection, there are lots of ways to socialize that don’t involve crowded indoor spaces where no one is wearing a face mask (the highest risk option). Weighing the risks of contact with others against the possible benefits to your health can help make the decision-making process easier. Here are some things to think about:

Consider the risk for you and your immediate contacts. If you or someone you live with is especially vulnerable to infection, this is an important factor in weighing how much you want to risk coming in contact with someone who might give you COVID-19.

It’s also important to think about those outside your household with whom you may want to socialize and how much exposure they might have had too. You may want to consider creating a pandemic “pod,” a small cohort of friends or relatives with whom you choose to interact somewhat normally but who agree to stay socially distant outside the pod.

Keep tabs on how the virus is spreading in your community. The number of new cases, hospitalizations, and deaths varies widely in different areas of the country. Check local health department reports or find out here whether these numbers are increasing or decreasing where you live. If they are climbing or remain high, you may want to rethink whether going to a salon for a haircut is a good idea, even if restrictions have been lifted.

Think about how risky the activity is. Most people know the basics of how to stay safe from coronavirus infection. Keep these ideas in mind as you make decisions about venturing out in public. These include:

  • Wearing face covering when out in public significantly reduces transmission, both for the wearer and the ones they are with.
  • Maintaining a distance of at least six feet from others decreases the chances of contact with infected droplets.
  • Large gatherings, especially if they are indoors and especially if others are not wearing face covering, significantly increase the risk that someone will pass on the virus.
  • Encounters in the outdoors are safer than those in close indoor spaces.
  • Limiting the time you spend among others, especially if it is indoors, reduces the chances of encountering the virus.
  • Bringing your own (BYO) food and drink means a lower risk of transmitting the virus through touching a contaminated surface. Bringing your own chairs or picnic blankets also helps you keep your distance from others in an outdoors group.
  • Handwashing with soap and water or using hand sanitizer is still the most effective way to prevent transmission of coronavirus and other disease-causing organisms.

And finally, here are additional tips from NYC Health to keep yourself and your loved ones safe and healthy as pandemic restrictions start to lift. Be careful out there!

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Patient communities Patient stories

Meeting Patients Where They Are

Like most neurologists, Dr. Charlene Hafer-Macko treats patients with a variety of neuromuscular conditions. Her focus, though, is myasthenia gravis (MG). It’s MG patients who provide her with the intellectual challenge she loves.

“I really like this population,” she says. “There are so many things you can do to help them stay in control of their disease. And this is a group that really uses the information they have to help themselves. Helping people through the journey is the part I find the most fun.”

As an associate professor of neurology at the University of Maryland School of Medicine, Dr. Hafer-Macko serves as director of the university’s multidisciplinary Myasthenia Gravis Center. This clinic pulls together all the services an MG patient needs in one coordinated package—including an infusion suite that provides intravenous immune globulin (IVIG), plasmapheresis service, and thoracic surgeons that focus care for thymectomy for myasthenia gravis.

“Our team is very well versed in myasthenia,” Hafer-Macko says. “So not only are they providing care, but they’re also monitoring for side effects and providing education and support at the same time.”

For Dr. Hafer-Macko, it’s the education and support part of working with MG patients that she finds most satisfying. Several years into her career, she realized that she wasn’t feeling fully fulfilled by her interactions with patients. She would assess their weakness and check their blood work and tweak their medications, but these exchanges with mostly stable patients felt flat. She needed something more.

She discovered that something more in the stories her patients told about their daily experiences. They reported, for example, that even when their double vision was controlled or they were back to walking normally, they still had trouble reading or watching TV, and they felt exhausted after a trip to the grocery store or just walking across the room.

“Even when many patients are well controlled, fatigue is an element that just stays with them,” Hafer-Macko says. “Fatigue is such a tricky thing. It’s something that is not often addressed effectively. So really understanding what’s driving that fatigue was something that I got very interested in.”

She teamed up with occupational, physical, and respiratory therapists to develop a better understanding of fatigue and the needs of MG patients. Together with this team, Hafer-Macko developed a toolbox of techniques for helping patients avoid or overcome fatigue and other challenges.

Listening to her patients’ stories has also helped Hafer-Macko become a better doctor.

“I learned how to ask questions differently, questions that gave me better data,” she says. “And then once I’d ask them differently, I could coach individuals on how to give me better information.”

When she would ask a question like, “Are you better,” for example, she found the patient’s response—“Yes, I’m better now”—didn’t provide much in terms of measurable outcomes. If, however, she asks about how long the patient can read before their eye symptoms make them put the book down, she has a benchmark that she can compare to a previous exam. It’s data that shows a meaningful response to treatment.

Stories of her patients’ fatigue also inspired Hafer-Macko’s research. She is part of a group at the Baltimore Veterans Association Medical Center that is exploring exercise, nutrition, and fitness in older adults. One of the things they have learned is that, because of their weakness, those with MG must work extra hard to accomplish even minor tasks like walking to the bathroom. This leaves far less energy for all other activities.

“It’s like every time they walk to the bathroom, they’re running a marathon,” Hafer-Macko says. “They have very little reserve. They’re just working very hard because of that weakness.”

Dr. Hafer-Macko has been recognized by the Myasthenia Gravis Foundation of America (MGFA) for her outstanding work with the MG community. She has served on the board of directors for the organization and currently serves on two of their committees.

Ironically, Hafer-Macko’s greatest inspiration is not a patient at all. It’s her mother. At 82, Charlotte Hafer still teaches dance—these days remotely by zoom. In 41 years of teaching elementary school during the day and dance at night, she never took a sick day. She continues to work as a math and reading specialist by day and teaches dance at night. As a devoted theater fan, her mother saved up her sick leave compensation so she could go to shows in New York City and in the Pennsylvania/Maryland/DC area to see shows. This year, Charlotte engaged the brave new world of Facebook to win a contest in which she was named Broadway’s Biggest Fan.

“She’s actually my inspiration,” Hafer-Macko says. “To deal with my mom and her medical hang ups, I’ve learned so much about taking care of people. You’ve got to meet folks where they’re coming from. They’ve got nuances, and that makes such a difference in working with a patient to find a care plan that will work well for them.” 


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Advocacy Health Information

Tips and Tricks for Managing MG

We recently spoke with neurologist Charlene Hafer-Macko, MD from the University of Maryland’s Myasthenia Gravis Center about ways myasthenia gravis (MG) patients can keep themselves healthy and stay out of crisis. Here are some of her tips and tricks:

Communicating about your condition with healthcare providers, especially in an emergency situation, can be a challenge.

  • Wear a medical ID bracelet, such as the MedicAlert, that identifies you as having myasthenia gravis.
  • Know what medications MG patients need to avoid, and carry a list of them in your wallet for easy reference.
  • Download the MyMG app from the Myasthenia Gravis Foundation of America. The app also has a list of medications to be avoided with MG.
  • Document your symptoms, treatments, and how they affect your daily life so you can have these data readily available when your doctor asks, “How have you been feeling?”
  • Always ask your healthcare provider or pharmacist if a newly prescribed medication is on the list of drugs MG patients need to avoid.
  • Use online resources to look up conditions and medications. Just be sure the source is reliable and informed by science.

Weak muscles can make breathing difficult, but there are things you can do to make breathing more efficient.

  • Use pursed-lip breathing, a technique in which you breathe out through puckered lips. See this demonstration.
  • Learn how to breathe into your belly by lowering your diaphragm. Learn how here.
  • Explore mindfulness practices that focus on breathing. This is also helpful for stress reduction. Find a guided exercise here.

MG symptoms tend to get worse with heat for many people. To avoid melting when it’s warm:

  • Take tepid showers. If you really like a hot shower, finish it off with a cold splash.
  • Avoid being out in the sun for long periods of time.
  • When the weather is hot, plan big activities for the cooler part of the day, and take advantage of air conditioning as much as possible. Ask your electric power company for a form that will ensure you are a higher priority for power when the electric goes out a storm.
  • Consider using a cooling vest if, for example, you want to sit in the hot sun for hours at the baseball game. Here is a sample of some available models.
  • Sporting goods stores also sell cooling towels and reusable, freezable gel packs.

Not getting enough sleep will make anybody more fatigued. For those with MG, insomnia can be related to corticosteroid use, anxiety, stress, and other effects of chronic illness. Good sleep habits can help. Here are some tips:

  • If you take prednisone, do so early in the day.
  • Schedule your bedtime so you get at least 7-8 hours of sleep.
  • Make a habit of going to bed at the same time every night and getting up at the same time each morning, even on the weekends.
  • Keep your bedroom quiet, dark, relaxing, and at a cool temperature.
  • Create a relaxing bedtime routine.
  • Ban electronic devices, such as TVs, computers, and smart phones, from the bedroom, and avoid using screens during the hour before you go to sleep.
  • Avoid large meals, caffeine, and alcohol before bedtime.
  • Exercise regularly to help you fall asleep at night.

And finally, Hafer-Macko advises that those living with MG watch their bodies, learn how their treatments affect them, and plan activities accordingly. For example, if you (or those you live with) notice that you start to slow down as you get closer to your next pyridostigmine (Mestinon) dose or IVIG infusion, that may not be the best time to schedule a big day with the kids that will use up a lot of your energy.

Similarly, if you take pyridostigmine, notice how it affects you. If it starts to wear off too soon, mention it to your doctor; you might need to adjust the dose. Also, be aware of scheduling high-energy activities like shopping or cleaning during times when your meds are wearing off.

The following organizations offer additional resources, including support groups, education, and research: