Category: Patient communities

Categories
Patient communities

Never Say Die

Vickie Henderson refused to give up on finding the care she needed.

Vickie Henderson is the kind of person you want to have on your team if you want to win. She’s driven. She gives it her all. And she never gives up. But seven years ago, that never-say-die attitude became a liability for her.

Vickie, who is an obstetrician/gynecologist, started noticing her eyes weren’t focusing quite right, especially when she was tired. She told her eye doctor, who kept adjusting her contact lenses, trying to compensate for the blurred vision, but it was never quite right. At home, she would go to bed early, not because she was sleepy, but because she literally could not keep her eyes open.

As it turned out, she had ocular myasthenia gravis (MG), a chronic autoimmune disease that affects the muscles that move the eyes and eyelids. It was a huge surprise, but she refused to see it as a setback. She was training for a five-day, two-hundred-fifty-seven-mile bicycle ride across the state of Missouri, and she was pushing herself. She couldn’t let up now.

“One thing I learned is, if you push MG, it pushes back,” Vickie says. “Of course I pushed it, and six weeks after my diagnosis—just days before the race—it progressed to generalized MG.”

That day of reckoning came at the worst possible time: when she was in the operating room performing a Cesarean section. The muscle weakness of MG started affecting her hands. Still, she kept pushing herself until not only was she unable to hold the instruments properly, but her legs started buckling and she had trouble breathing because her diaphragm was getting weak.

“I was a surgeon in an operating room one minute, and the next I was a patient in a wheelchair on my way to the emergency department,” she says.

Vickie was sent to a larger medical center where she could receive more advanced care. But the neuromuscular specialists at the tertiary care hospital couldn’t figure out what was wrong with her. Even though she already had a diagnosis of ocular MG, she was seronegative. This means that, like 10-20% of myasthenia patients, her bloodwork did not show acetylcholine receptor antibodies. Because this diagnostic test was negative, the doctors didn’t believe her profound muscle weakness was caused by MG.

“They pretty much accused me of faking it,” she says.

She was fifty years old and, thanks to her training for the bike trip, she was in extremely good physical shape. She could do 80 pushups and bike a hundred miles in one day. So when they tested her for strength, she crushed it. But one of the hallmarks of MG is “fatigable” weakness that sets in after you’ve been using the muscle.

“They didn’t test me for fatigable weakness,” she says. “Doctors would come in and they would have me resist, do straight leg raises, do an arm curl. But when they left the room, I couldn’t even get my fork to my mouth. And even if I could, I couldn’t chew my food, because I had weakness in my jaw. So they didn’t take me seriously.”

Talking to support group leaders from the Myasthenia Gravis Foundation of America (MGFA) was one of the things that helped Vickie find her footing again. These were the myasthenia experts she needed, because they too lived with the disease. Not only were they very knowledgeable about how she needed to take care of herself, but they believed her. They reassured her that she was not crazy.

Buoyed by this support, Vickie’s never-say-die attitude became a force in helping her to advocate for herself. She searched both locally and beyond for a doctor who would listen to her and treat her appropriately. She finally found a myasthenia doctor who believed her, but he was 1,000 miles away. This neurologist did electromyography (EMG) studies to measure the electrical activity of her muscles and, backed by the abnormal results, was able to accurately diagnose and treat her.  

Now Vickie speaks out for rare disease patients everywhere, urging them not to give up until they find the care they need. She’s a powerful motivational speaker who uses stories and humor and her own experience to also urge her physician colleagues, even when they don’t understand, to trust their patients and believe their story.

Categories
Patient communities

Friends Who Get It

Being with people who understand what you’re going through can be a life line for those with a rare disease.

“It’s like explaining how chocolate tastes to someone who’s never had chocolate,” Rose Mary Istre says of trying to explain dermatomyositis to her friends and family. “They don’t get it.”

When she was diagnosed more than twenty years ago, even doctors didn’t have a good understanding of this autoimmune muscle disease or how to treat it. Which made Rose Mary feel very much alone and anxious. This is also what made her want to find other people with myositis, people who had tasted this sort of chocolate and knew what it was like.

She contacted The Myositis Association who gave her a list of people in the Houston area who had some form of the disease. In those pre-internet days, Rose Mary sent everyone on the list a survey with a self-addressed, stamped envelope, asking about their interest in getting together for some sort of support group. Shortly after that, 48 of the 50 people on that list showed up at Rose Mary’s house for their first meeting, including one woman who literally crawled in the front door because she was too weak to walk.

“That’s how desperate people were to find someone else who got it,” Rose Mary says. “But the best part was, we realized we weren’t alone. There was somebody else out there struggling with the same issues we had. Even if we thought we just couldn’t cope with it, someone else was out there coping. It gave us hope. So we held hands and became friends and formed a support group, a community.”

When Lekiha Morgan was also diagnosed with dermatomyositis five or six years ago, she too realized she needed to talk to someone. Rose Mary’s group in Houston was almost an hour away from her home in Galveston, but knew she needed to get herself there.

“People around me kept saying you don’t look sick, but my body was catching hell,” she says. “It was great to be around people I could relate to. They also knew more about the disease and taught me things that I could bring home and share with my family and my kids to help them to better understand what I was facing.”

Feeling less alone and having words to express what you’re dealing with are only a few of the ways support groups help those who live with rare diseases like myositis. Simply being able to talk about your feelings and share the frustrations of living with a disease that leaves you unable to pick up your baby or walk up the stairs can be very therapeutic. Even caregivers can benefit from this form of social support, developing improved coping, lower stress levels, less anxiety, and finding hope and purpose in life.

Each support group has their own way of doing things, but they often involve opportunities to both share personal experiences and learn from expert speakers. Rose Mary, for example, has tapped contacts in the medical community, including her own treating physician, infusion nurses, a clinical psychologist, art therapists, a tai chi instructor, and even members of the group who have a special talent they can share.

Among the more popular speakers are medical professionals who are experienced in treating myositis. Members are eager for their answers to questions about everything from treatments and side effects to research and “am I ever going to get better.”

Group members don’t give medical advice, but they are able to talk about what worked for them and to guide people on how to navigate where they are with the disease. Still, this personal experience is often more informed than some physicians who have little experience working with a person with myositis.

“I believe we actually have saved lives at our support group,” Rose Mary says. “We’ve had people who wander into meetings who are going to a medical clinic or seeing a doctor who is not following what we have learned to be a really strong protocol in combating this condition. So our group is a good resource to let people know what’s out there, what’s available in the medical community, and who to contact.”

Lekiha is one of those people who was struggling with treatments that were not working well to control her symptoms and were causing complications. At the Houston support group, she learned about intravenous immune globulin (IVIG) therapy, which had been very effective for several people, including Rose Mary.

“I was having a hard time getting around, and I couldn’t work anymore,” Lekiha says. “But the doctor I was seeing at the time said I wasn’t affected to the degree that she felt I needed IVIG. After talking with people at the support group, I ended up going to see a different neurologist who said I was a perfect candidate for IVIG. She said they don’t want you to get to the point where you’re completely immobile and they can’t bring you out of it. Now IVIG is the only medication that I’m on. IVIG changed my life.”

For many people who live with rare diseases like myositis, having a support group to depend on is a life-saving experience.

“I’m so glad and grateful for this group,” Lekiha says. “It’s a scary disease to face by yourself, especially when nobody you know knows anything about it, even doctors. I’m so thankful for these support groups. I don’t think I would be here without them, honestly.”

Rose Mary, too, is grateful for the folks who have shown up at her meetings.

“I don’t know how I would have survived,” she says. “I feel like I needed them more than they needed me. I felt like I finally had purpose in helping somebody else. So many people benefited, and helping them gave me real courage to carry on. I shudder to think where I would be had I not had that support group.”

Resources

CSI Pharmacy provides a resources page with information that may be helpful for all of our patient communities.

The IVIG/SCIG Patient & Provider Support Group is a private Facebook group for those who use immune globulin therapies.

Cure JM Foundation seeks to find a cure and better treatments for Juvenile Myositis (JM) and improve the lives of families affected by JM.

The Myositis Association (TMA) is the leading international organization committed to the global community of people living with myositis, their care partners, family members, and the medical community.

Myositis Support and Understanding (MSU) is a patient-centered, all-volunteer, 501(c)(3) nonprofit organization empowering the myositis community through education, support, awareness, advocacy, access to research, and need-based financial assistance.

Categories
Patient communities

Finding Hope through Community

Larry and JoAnn smiling at CSI Pharmacy success

Larry Leisher had no idea what inclusion body myositis (IBM) was when he was diagnosed with this slowly progressive muscle disease 16 years ago. He’d been having trouble going up and down the stairs for a while before that. His legs were looking very thin, and he was falling too often for it to be normal. When the diagnosis came, it threw Larry and his wife JoAnn for a loop.

“The biggest problem was not having any idea where it came from or how it started,” Larry says. “I’d never really been a sick person, so to have this come upon me the way it did was really devastating for both JoAnn and me.”

The Leishers are not alone in feeling confused and overwhelmed. Being diagnosed with a rare, chronic condition, especially one like IBM that has no treatments, can be one of the most difficult and stressful life experiences, for both the patient and her or his partner. Suddenly, a spouse becomes a caregiver and the life they thought they were living has been upended. Plans for the future, work and social life, and relationships all have to be retooled to include medical interventions and disability. None of that is easy.

About a year into his diagnosis, Larry ran across an article in the local paper written by Lee Thames, the first person Larry ever heard of who had IBM. So he called him.

“Lee and I got together and decided to start a support group,” Larry says. “At first it was just he and I. Our first meeting was in February of 2007, and it’s been going ever since.”

Getting together with other people who also live with myositis can be a life saver. It’s a way to learn more about this condition that most people have never heard of before. And because no one else in your life really knows what you’re going through, sharing the story of your journey with someone else who understands the challenges of living with this life-changing disease can lighten the load, whether you’re the patient or the caregiver.

Over the years, the myositis support group Larry helped to start in Jacksonville has grown to include 20-25 people, both patients and their caregivers. Eventually they connected with The Myositis Association (TMA) and became an official part of the organization’s national network of support groups.

Before the pandemic ended in-person meetings, they would try to get together quarterly. Larry arranged for speakers to come in and talk with the group about different aspects of their disease. 

“A support group is a good thing to have,” Larry says. “It gives hope to those who have none. It gives people a chance to talk with others who have the same difficulties. We talk about things that get us through the day, things that you can’t just turn on the computer and find.”

But it’s not just about the meetings. Larry works hard to make sure members of his group are taken care of. He calls everyone every few weeks, just to check in. And pre-pandemic, he and another member, Jim Farrlley, would also get in the car and drive as far as 70 miles to visit members who were no longer able to make it to meetings.

These efforts have paid off. Before the pandemic, the group was so connected that, even after their loved one passed away, a couple of caregivers still attended in-person meetings. And more than one member continued with the group even after their doctor decided they didn’t have myositis after all. 

Like everything in our lives over the last year or so, however, the social distancing has made it difficult for members to be there for each other. While many events have moved online through video meeting apps like Zoom, that hasn’t been an option for the Jacksonville group. Too many of the members are unfamiliar and uncomfortable with this technology, and some don’t have access to a computer.

So Larry has been on the phone a lot. He calls members weekly or biweekly, just to let them know they’re still part of a supportive community that cares about them and to keep them abreast of what’s going on at TMA and in the myositis research world.

“It’s been hard since we can’t get out to visit people,” Larry says. “So I just try to keep the conversations going. A lot of people are disappointed because we’re no longer getting together. Things are getting more and more difficult for folks…problems at home and such.”

More than anything, Larry has an unwavering positive attitude. He is committed to his mission of passing on hope to folks who may be feeling even more lost and alone than in normal times.

Recently, for example, a report on arimoclomol, a new medication being tested for IBM, showed the drug had failed to meet research expectations in clinical trials. It was devastating news for IBM patients who had pinned all their hopes on this, the only drug anywhere close to being a possible therapy for their disease.

“I contacted our members who have IBM and let them know about the results,” Larry says. “But I also let them know that, although it failed, this was not a time to give up. We still have to have hope. We still have to support the research and TMA.”

In the end, this optimistic attitude and sharing it with others keeps him going too. He refuses to let this disease take him down.

“I don’t want to lose the group,” Larry says. “Even if it’s shrinking in size, I still feel that, between our group and TMA, there’s a lot of hope that can be passed around.”

Categories
Health Information Patient communities

COVID Vaccine and Our Patient Communities

COVID-19 Vaccine Bottle that says Injections Only
Photo by Artem Podrez from Pexels

Across the country we are starting to see the light at the end of the tunnel as the rollout of COVID-19 vaccines has begun. For many of our patients with primary immunodeficiency diseases or autoimmune conditions, however, getting vaccinated is not a straightforward decision. They have lots of questions and must weigh carefully a number of considerations.

Immunologist and rheumatologist Dr. Terry Harville has some concerns, too. “There are questions in my mind that haven’t been fully answered,” he says about the new vaccines that have recently been granted emergency use authorization by the Food and Drug Administration (FDA). “And I’m worried that there will be unintended consequences.”

The fact that we have only two months’ worth of safety data from the clinical trials testing these new vaccines from Pfizer/BioNTech and Moderna leaves many medical professionals worried about longer-term effects. Others are unsure about how the vaccines will react in patients with rare autoimmune and primary immunodeficiency diseases, because testing did not include people who live with these conditions.

Despite these concerns, Dr. Harville—along with most other healthcare practitioners—stresses that most people should still get the vaccine. Because when hundreds of thousands of people get COVID and one or two percent of them die, the statistics overwhelmingly support COVID-19 vaccination.

Dr. Harville, who is a professor of medicine at the University of Arkansas for Medical Sciences and an expert in primary immunodeficiency disorders, offers some guidelines for those who are trying to make a decision about the vaccine and might be at greater risk for complications from it.

If you have a primary immunodeficiency (PI) disease, you probably already know that you need to be careful about taking immunizations, especially if they are made with live virus. The COVID-19 vaccines that are currently being administered, however, are not made with live virus. They are created from a man-made part of the virus’s genetic code called mRNA. This means they are safer for those who are unable to take live virus vaccines.

With a few exceptions, Dr. Harville says, “It is the general consensus that we don’t see any reason to not vaccinate those with primary immune deficiency diseases.”

One exception is interferonopathies, IDs associated with dysfunction in components of the immune system called interferons. Another exception is CTLA4 deficiency. These are conditions in which patients tend to develop autoimmune disorders. Dr. Harville recommends that individuals with these types of ID should probably not get the currently available COVID vaccines. While there is no data to support this at this time, there is concern among immunologists that vaccination in this group of patients may trigger an overly aggressive immune response that would be harmful. As more data becomes available, better recommendations will be forthcoming.

If you use immune globulin therapy, there appears to be no reason you shouldn’t get the vaccine. In fact, even if you get the disease, you may actually be better off than others.

“What’s interesting is,” Dr. Harville says, “if you look at SARS-CoV-2 infection in patients with antibody deficiencies—whether that’s X-linked agammaglobulinemia (XLA) or common variable immunodeficiency (CVID)—when these patients are receiving appropriate immunoglobulin (IG) replacement therapy, they tend to have milder disease.”

Intravenous immunoglobulin (IVIG) has even been used, in some cases, to treat COVID-19 infection. While clinical trials to prove effectiveness are still ongoing, some physicians believe IVIG does decrease the risk of severe complications. IG manufactured from the plasma of people who have recovered from COVID-19 infection is also being tested as a treatment.

If you have had a severe reaction to immunizations in the past, this may be a reason to opt out of getting the COVID vaccine. This includes those who have a primary immunodeficiency disorder and developed the infection after receiving a vaccine. It also includes autoimmune disease patients who have experienced a severe flare of their symptoms after a vaccination.

In the 1976, there was a rise in cases of the autoimmune condition known as Guillain-Barré syndrome (GBS) that was thought to be triggered by the swine flu vaccine given that year. This was an inactivated virus vaccine, not the type of mRNA vaccine we now have with COVID. Nevertheless, if you’ve had GBS in the past, be sure to let your healthcare provider know this, as it may be a consideration for whether or not you should get the COVID vaccine.

During the COVID vaccine clinical trials, a very small number of participants who received the Pfizer vaccine developed a severe, life-threatening allergic reaction. Since then, others have also had what is called an anaphylactic response soon after getting vaccinated. If you have ever experienced shortness of breath, tightening in the throat, swollen lips or face, or other severe allergic symptoms, you should probably not get this vaccine in particular. (Other vaccines using whole virus are currently in development and will likely be safer.) Anyone who does get a COVID vaccine should be observed for at least 15 minutes and be sure the healthcare personnel administering it have emergency equipment needed to respond to anaphylaxis.

Regardless of your disease, everyone can reduce their own risk. Dr. Harville stresses that, even if you get vaccinated, it’s still important to wear a mask, wash your hands, and maintain physical distance from others.

“Ultimately whether you take or do not take the vaccine is an individual patient decision,” Dr. Harville says. “This should be made after weighing all the risks and benefits and based on a discussion with your physician.”

We highly recommend that you learn more about the risks and benefits of COVID-19 vaccination as it relates to your particular situation. The Centers for Disease Control and Prevention (CDC) offers these guidelines for COVID-19 vaccination for those with underlying medical conditions. In addition, a number of disease organizations offer educational programming about the impact of the virus and the vaccine on specific disease conditions.

Please also see disease-specific statements about COVID-19 vaccines from these patient organizations:

Guillain-Barré syndrome – GBS|CIDP Foundation

Immune Deficiency Foundation

Myasthenia Gravis Foundation of America

The Myositis Association

Myositis Support and Understanding

Platelet Disorder Support Association

Categories
Health Information IG Therapy Patient communities

Choices: IVIG versus SCIG

Good. Better. Best.

Many patients with autoimmune disorders and primary immune deficiency diseases depend on regular infusions of immune globulin (IG) to keep them healthy. For most of the nearly four decades since immune globulin therapies have been available, patients have had only one viable option for how this treatment was given. It was only available as an intravenous (IV) infusion.

Since 2006, however, when the first IG product was approved for subcutaneous (SC) administration, patients have had a choice about how they received their treatments. Both products are considered equivalent in terms of efficacy, but there are lots of other factors that may make one preferable over the other. Providers usually have their own sense about how IG should be administered, but we asked IG users for their thoughts on the pros and cons of each option.

Convenience is the biggest factor in which route patients prefer. Ironically, both IV and SC users think their choice is most convenient.

Rebecca, for example, has been getting IVIG for 12 years after being diagnosed with common variable immunodeficiency (CVID). She speaks for many when she says, “I like that I only sacrifice one day every three weeks for treatment.”

The convenience of once-a-month infusions with IVIG comes at the expense of independence, though. IVIG poses higher risks, because it goes directly into the vein rather than under the skin. So it must be given under a nurse’s supervision, whether that is in the hospital, an infusion center, or at home. This means it also has to take place on a schedule that may not always be convenient.

Those who use SCIG usually take their infusions once a week rather than once every three to four weeks or so. Still they prefer the control they have over when they infuse, because they do it themselves. As Brandina, who has myasthenia gravis, says, “I love that I can administer it myself. The treatment days are flexible, and I can take the medication with me, so I don’t have to plan my vacation around treatments.”

Infusing once a week is also inconvenient for some SCIG users, but for most this is a minor drawback. As Jen, who has specific antibody deficiency, says, “I absolutely love SCIG. There are so many more pros that I could list and only this one con.”

Getting infusions at home, whether it is IV or SC, is also a convenience. This has become especially important since the COVID-19 pandemic has made it less desirable to go to a healthcare clinic. Brynne, whose six-year-old daughter uses IVIG for juvenile dermatomyositis (JDM), was grateful when her overnight hospital infusions were changed to in-home infusions because of coronavirus restrictions.

Making the most of infusion time is something IVIG users have worked into their lives. Sitting in an infusion center or even hanging out at home with a nurse for six to eight hours or more can be a huge inconvenience, but it doesn’t have to be wasted time. Dana, who has dermatomyositis, likes IVIG, because it forces her to take time for herself and relax. And Robin, who has CVID, uses the time to crochet.

Mary, whose husband has myasthenia gravis (MG), prefers to get his IVIG at the hospital infusion center for other self-care reasons. “He loves the heated, vibrating recliner,” she says. “And they provide snacks and lunch.”

Adverse effects can be more of a problem with IVIG. In fact, this is often the reason patients switch to SCIG, which has far fewer reactions. Symptoms can range from fatigue, fever, flushing, chills, and ‘‘flu-like’’ symptoms to more life-threatening reactions like anaphylaxis (severe allergic reaction) and blood clots.

The most frequent side effect is headache, which can last several days and be more severe than a migraine. Some, like Lola, who has Sjögren’s syndrome, even get aseptic meningitis (inflammation of the membrane covering the brain) after infusions. This causes debilitating headaches, dizziness, and other symptoms.

Scar tissue and knots of fluid under the skin from subcutaneous infusions was a drawback for those using SCIG. These knots usually disappear within a few hours, though, and any redness or swelling at the injection site usually decreases over time.

Pain from being stuck with needles is not an insignificant side effect, regardless of whether it’s IV or SC. Whether it’s having to stick oneself multiple times or whether it’s having difficult-to-access veins, nobody likes to feel like a pincushion.

This can be especially challenging for children. Nancy’s nine-year-old daughter has JDM and receives IVIG at a pediatric infusion center. She says having ultrasound to find and insert the IV needle makes a world of difference for her daughter. Being spoiled by the nurses also takes some of the sting out of the whole ordeal.

Fluctuations in therapeutic effect is another reason many people switch to SCIG. An IG dose is mostly metabolized by the body over about 22 days, whether it’s given IV or SC. With IV infusion the dose reaches its peak immediately and dissipates over the next three to four weeks. This means that some patients will feel their symptoms returning as IG levels in the blood go down.

“As I got closer to my next treatment date, I would start to feel the effects of needing my next treatment,” says Karon, who has MG. “After I received it, I could tell I had just received a boost and had more energy.”

Giving IG under the skin makes the blood levels rise more slowly. And because SCIG is given more frequently—usually weekly—IG levels in the bloodstream fluctuate far less, so patients don’t feel that fatigue and other symptoms returning.

Whatever you decide about IG therapy, Lea, who has used IVIG for 22 years to treat CVID, offers this important advice: “You have to listen to your body and watch how it reacts to everything and try things until they work for you.”

For those who would like to learn more about IVIG or SCIG, please contact the CSI Pharmacy advocacy team at [email protected].

Categories
Patient communities

Stumbling onto Rare Disease

Susan Foley

Susan Foley used to brag that if she told you she forgot, she was lying. For most of her life, she remembered everything. In the last ten years, however, her mind is more like someone with a traumatic brain injury. She loses her train of thought, and sometimes she can’t get the right words to come out when she talks.

Susan has Hashimoto’s encephalopathy (HE), a type of autoimmune encephalitis (AE) that causes swelling in the brain. When this happens, patients experience an odd array of symptoms. They can say strange things, act like they have no feelings, and stumble, as Susan says, like a drunken sailor. Too often, family members and even doctors think these people are just behaving badly. So getting an accurate diagnosis for this rare disease can be a challenge.

About a year before she was diagnosed, Susan started having trouble walking up steps, noticed tremors in her hands, suffered debilitating headaches, and couldn’t make her bed in the morning without needing to take a nap. She blamed these symptoms on her stressful job. When she began having absence seizures (a type of epilepsy in which the person blanks out for a few seconds, staring off into space) it scared her. She knew she needed to get help.

“I had so many different symptoms that the doctors had no idea what was going on,” Susan says. “My primary doctor kept telling me it was stress related, but I knew there was something more going on. Finally, I asked her to send me to a neurologist.”

Still, it took almost a year of every imaginable diagnostic test and a trip to see a specialist at a large teaching hospital for the neurologist to put all the pieces together. Among the tests the specialist did was a blood test for thyroid antibodies. The results were off the charts. This was the clue the neurologist needed.

“HE has nothing to do with your thyroid,” Susan says. But doctors have noticed that this form of encephalitis is associated with elevated thyroid antibodies. As in Susan’s case, this is often how physicians identify the disease.

Having a diagnosis is one thing but figuring out what this means for your life is a whole different process. When Susan went to the internet in search of accurate information about HE, all she found was a single article. It took a lot more digging through online forums and support groups to find even one other person who had the disease.

That one other person turned out to be Nicola Nelson, a Chicago attorney who had also been recently diagnosed with HE. The two became good friends and, when Susan told Nicola about her idea to write a book, she wholeheartedly agreed.

“I had big dreams, you know?” Susan says. “I thought, people who are diagnosed with HE have no information. They need to know from other patients what to expect, what that patient has gone through.”

Hashimoto’s Encephalitis: A Guide for Patients, Families, and Caregivers, now in its second edition, is still the only book about HE available. It includes stories of patient experiences along with interviews with prominent physicians who specialize in the disease.

In addition to the book, Susan and Nicola started a nonprofit patient organization to provide ongoing support and information for those affected by HE and other autoimmune encephalopathies. HESA (Hashimoto’s Encephalopathy/SREAT Alliance), provides both scientific and experiential information on living with HE (also known as steroid-responsive encephalopathy associated with thyroiditis [SREAT]; encephalopathy associated with autoimmune thyroid disease [EAATD]; and nonvasculitic autoimmune inflammatory meningoencephalitis [NAIM]).

HESA raises awareness and advocates for the HE community and raises funds to support research that patients hope will one day shed more light on the underlying cause of HE/AE and create new, more effective therapies. Last year, HESA joined together with other AE organizations to host a symposium to educate physicians and other healthcare professionals. (Recordings of these and other presentations are available on the HESA website.)

HESA’s support groups include two private Facebook pages, one specifically for teens. Susan and her medical advisory board also consult with individuals privately on everything from physician referrals to how to get insurance to approve IVIG therapy to sensitive issues such as incontinence.

Despite the fact that Susan’s career in business ended when she became sick, she’s busier now than she’s ever been. HESA is her labor of love.

“I will tell you, when one door closes, another door opens,” she says. “HESA has been a life saver to me. I still feel like I’ve got something to give, and I tell people when they’re feeling sorry for themselves, they need to find a purpose. Do not feel sorry for yourself. Do something. It will give you a reason to get up in the morning.”

One of the most effective therapies for autoimmune encephalopathy is IVIG. CSI Pharmacy is excited to welcome HESA and those with AEs into our family of care.

Categories
Patient communities Patient stories

Partnering with Patients to Solve the Mystery of Myositis

Christopher Stine headshot

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.

Categories
Patient communities

Connecting with Patients is the Reward

Huub Kreuwel

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.”

Categories
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.” 

Categories
Advocacy Patient communities Patient stories

Being There for Those in Need

Rebekah Dorr never set out to become a myasthenia gravis patient advocate. It started with her Facebook page, Myasthenia Gravis Unmasked, and just sort of evolved. That’s where, in 2014, Rebekah first shared the story of her own harrowing journey with myasthenia gravis (MG) and some of what she learned along the way. She wanted to bring hope to those who live with the disease by raising awareness about how it affects individuals and correct some of the misconceptions even the medical community still endorses.

When someone messaged her on the page asking for help, she wasn’t sure what she could do. “But I’d advocated for myself,” she says. “So I thought, let me see if I can help this person. I think she was indebted to me, because she turned around and started sharing about me in other groups.”

Since that time, Rebekah has lived on her phone. She posts educational content about living with MG and provides a platform for the personal stories that give voice to the challenges myasthenics face every day. She also responds to every comment and private message—sometimes dozens a day—from those with questions or who need her help to get the care they need.

“I was frustrated with what was available at the time,” Rebekah says of the MG support system. “There was research, there were support groups, and that was it. There was this huge no man’s land for what was happening for the patients. And I was like, who’s taking care of patients the way I needed to be taken care of? So that ended up becoming my passion.”

At least part of this passion for walking with patients in their time of need comes from her own experience. She knows what it’s like to be alone and afraid, not understanding what was happening to her, and not trusting the medical community to make the right decisions for her care.

Rebekah’s symptoms began one summer when, out of the blue, she started feeling really tired, like she had the flu. Very quickly, however, those symptoms escalated to significant shortness of breath. She had trouble chewing and swallowing, and her legs became so weak she couldn’t walk. It seemed like one minute she was playing on the beach with her cousins and the next she was unable to get out of bed.

The next two years was a terrifying odyssey that included countless ER visits, hospitalizations—including several stays in ICU and more than one time when she had to be resuscitated—lab tests, scans, surgeries, spinal taps, and specialist consultations. It was a time when, looking back, she wished she’d had someone she could have called upon to help her know what to do.

Doctors refused to believe that a woman of 22 could develop MG, despite the fact that her grandmother also has MG and other evidence to support the diagnosis. Instead, they said she was faking the fact that she couldn’t walk and couldn’t breathe, and diagnosed her with somatic conversion disorder (meaning she was mentally ill, making it up). This label, together with the disrespect with which she was treated, did more damage to her health and spirit than MG ever could. It made her question her own truth and made her terrified to seek the care she desperately needed.

“I didn’t know anything,” Rebekah says. “I didn’t know blood tests for antibodies had to be sent to a special reference lab. I didn’t know my shortness of breath wouldn’t necessarily make my oxygen saturation go down. They didn’t explain the drugs to me. I had no idea I was being overdosed. I had no idea what any of it was.”

But she learned. Having people who depended on her for answers forced Rebekah to dig into the research and understand all she could about MG. She quizzed her own neurologist, listened closely to conversations she heard in hospital hallways, and read everything she could get her hands on. She also listened to the stories of patients. And she became the expert others needed.

“Word of mouth was spreading about me,” she says. “I don’t think the word advocacy was ever used, but it was just, hey, contact this woman, she’ll help you. And so I started getting flooded with messages. It became a job for me. It became my life.”

Rebekah now has clients all over the world, some of whom she works with for months or years at a time, sharing knowledge and awareness. More often, however, she’s there with patients—in-person for local clients, but by phone for most—when they need to go to the ER or are admitted to the hospital to help them navigate a system that often doesn’t understand this rare disease.

By 2016, however, Rebekah realized she was not receiving the kind of respect she needed from the healthcare community. She didn’t have credentials or the backing of some authority that would make medical professionals take her seriously. So she started her own nonprofit organization: The Myasthenia Gravis Hope Foundation.

“Our whole focus is advocacy,” she says of the Foundation. “I define that as clinical advocacy. We’re not just doing awareness or education. We’re actually coming in for the patient when they are most vulnerable to challenge the stigmas and misconceptions about MG that severely affect how they are perceived and treated.”

Beyond Rebekah’s lifesaving advocacy, MG Hope also provides funds for patients to travel for care and to cover the cost of critical medication until they can get enrolled with manufacturers’ assistance programs. The organization also helps patients access medical and specialty care and emergency medications.

For Rebekah this work—none of which she is paid for—is all about helping others avoid the hell she went through. She remembers sitting in a tiny closet of a hospital room which she had occupied for thirty-five days. She’d gone in for a thymectomy, but never got it. Instead, she experienced anaphylactic shock as a reaction to blood products, endured two resuscitation codes, went through cholinergic crisis because of titration mistakes, and so much more.

She remembers thinking if only somebody had educated her about these possibilities, she could have prevented nearly all of them. As a person of faith, that’s when she vowed to be the one to help others overcome or avoid these challenges. Now as the founder and CEO—and the only active member of the staff—of the MG Hope Foundation, she’s doing that work.

“I’m passionate about focusing on the patient experience,” Rebekah says. “I think that honesty and vulnerability is where we have the power to transform things, to actually step into somebody’s life and to maybe change it for the better. Whether they need emotional support or education, I want to show up for them in whatever way I can. That’s just where my heart is.”

Rebekah’s grandmother, Doris (95) was diagnosed with MG more than 60 years ago. This photo of Doris and Rebekah was part of MG Hope Foundation’s project called The Humanity Behind MG, designed to capture the essence of the human experience of those who live with the disease.