July, 2019
	Along the Path to Better Treatments
	IVIG Shortage
	Then her life changed overnight
	Walk Strong to Cure JM®
	Upcoming Events

Along the Path to Better Treatments

By Cure JM Executive Director Jim Minow

Jim Minow

Executive Director Jim Minow

At last month’s Cure JM Family Conference, I was very moved by the extraordinary level of engagement and commitment from our volunteer leaders and families as they shared their stories and plans to make a better future for their JMer. This conference is the culmination of our year’s work to discover better treatments and improve the lives of families living with JM, and reports and presentations from families, doctors, and researchers were, in a word, promising.

In leadership it is said that a promise made must be a promise kept—a challenging axiom in the complex world of JM medical research where there is more we don’t know abut the disease than what we do know. The promise is not if we will find better or alternative treatments and treatment regimens. We already have. Over the past 10 years JM clinicians have, on the whole, made remarkable progress and improvements in how the disease is treated.

The question before us is not if we will find a cure, but when? How fast can we go?

Certainly, one area where progress is accelerating is in the study of biologics and what are known as JAK/STAT inhibitor drugs. I’ve written about the promise of JAK/STATS earlier this year, but reporting on the use of other drugs, such as rituximab, bears repeating.

At Duke Children’s Hospital, Drs. Cory Stingl and Ann Reed are focusing research efforts on why some children with JM respond to treatment and others do not, and which children specifically respond to the drug rituximab. If we know which children respond and why, doctors can better predict where rituximab can be used as a first-line therapy when children are not be responding to prednisone/methotrexate or IVIG regimen in combatting disease.

At present, clinicians at Duke are using rituximab in many patients who have failed traditional first-line treatments, or who are not able to wean off steroids without flare of their symptoms.

Rituximab works by killing aberrant B-cells which are attacking muscle and skin and causing weakness. We know that these B-cells have a role in JM, but not to what extent. In some patients they have enough of a role that if they are knocked out the patient will improve. The hope is that as the body replaces the knocked-out B-Cells with new ones, and that the new cells won’t be autoreactive and attack muscle and skin.

Currently, JM patients who are responding to rituximab receive a first dose of two IV infusions. Depending on response, some patients will receive a second dose (but in a single infusion) about six months later.

There is a correlation between certain myositis-specific autoantibodies—or MSAs—and the effectiveness of rituximab, although this data is mostly from adult studies. An antibody is a protein that is part of a child’s normal immune system. An autoantibody is an antibody that is autoreactive. That is, instead of recognizing and attacking foreign “invaders” (such as a virus) autoantibodies recognize normal cell proteins and attack them as if they were invaders.

Autoantibodies will appear in the blood, and a child can be tested as a part of a clinical evaluation. And while the study at Duke is seeking to determine which MSA profile will better respond to rituximab, perhaps a more important reason a JM child should complete an autoantibody profile is that knowing which autoantibody a child has can help predict disease course, symptoms, and the level of severity. As autoantibodies are biomarkers (a biomarker is typically a protein in the blood used as a measurement tool), they are also useful in determining if a treatment is working.

To better understand the how and why rituximab is effective in some children and not others, Dr. Stingl will utilize a specialized blood test called, “ribonucleic acid sequencing,” or “RNA Seq.” RNA Seq is a way for researchers to understand what biologic pathways are active or inactive in the body. Stingl will compare the RNA seq analysis with the traditional MSA only model to determine if the additional data is useful in disease management. This project is funded by Cure JM.

Many of the biologic drugs such as rituximab can be costly, but Duke has found that insurance companies will generally reimburse for its use when patients fail other (and less expensive) first line treatments. Reimbursement rates will vary among insurance companies, but Duke’s experience is that coverage is similar to coverage with other infusions (such as IVIG) and that costs have not been an issue for most families.

Duke Children’s is Cure JM’s most recent Center of Excellence in research and clinical care. I’d like to express my heartfelt thanks to the JM clinicians there for all of their leadership to the field—Drs. Ann Reed (a Cure JM Medical Advisory Board Member), Jeff Dvergsten, and Cory Stingl. And congratulations to Dr. Kaveh Ardalan, who will be making a transition from the Lurie Children’s Center of Excellence and joining the Duke faculty this fall.

Jim
Jim Minow
Cure JM Executive Director

IVIG Shortage:
A Statement from IG Living Magazine

IVIG hardware

Since the U.S. Food and Drug Administration approved the first intravenous immune globulin (IVIG) product in 1981, IG has experienced a sustained record of near-continuous demand growth. More than 35 years after they were first introduced, demand for IG products continues to grow more than 8 percent a year. In 2018, as it has over each of the past several years, demand for IG products grew by more than 7 million grams. Collectively, IVIG and subcutaneous IG (SCIG) product shipments last year approached 88 million grams.

Even though there are currently 15 IG products available today, this demand growth nevertheless poses two special challenges for IG manufacturers: 1) they must forecast and invest in plasma collection facilities to ensure sufficient additional donor plasma is available to process into IG products, and 2) they must plan, invest and provide adequate lead time to construct and secure regulatory approval to operate new or expanded fractionation (how plasma is manufactured into IG products) and related IG production facilities.

IG manufacturers are making every effort to address these issues. In fact, every major plasma fractionator is investing in new production capacity, and manufacturers are producing IG products at top capacity. In addition, some new products are coming to market this year, and one that was removed from the market is being reintroduced. It is hoped these efforts will help to better meet demand in the near future.

If you are a patient who has been told future treatments with your brand of IG will not be possible, here are some steps you can take:

If being treated in the home, ask if there is another brand to which you can switch. If no product is available, talk to your ordering physician about another homecare provider.
If being treated in a physician’s office, ask if there is another brand to which you can switch. If no product is available, look for other sites of care. Specifically, check with the hospital where your ordering physician has privileges. Or, check with a homecare provider.
If being treated in a hospital outpatient infusion center, go back to your ordering physician and ask about another outpatient center. Or, check with a homecare provider.
Consider exploring the subcutaneous route of infusion if it makes sense for your condition.

IG Living will be hosting a Reader Teleconference today at 4 p.m. Pacific Standard Time (6 p.m. Central Standard Time; 7 p.m. Eastern Standard Time) to discuss increased IG demand and the impact it is having on some patients. We encourage readers to sign up for this teleconference and to submit questions prior to the date. Only presubmitted questions will be addressed during the teleconference due to time constraints. To sign up for the teleconference, go to: www.igliving.com/ life-with-ig/ readers-online-forum.html

“Then her life changed overnight.”

Water Therapy

Rachel Maynard does water therapy at home with her father, Ray.

Rachel Maynard was a typical little girl before the new year. She enjoyed school, ballet and playing with her friends. Then her life changed overnight.

Rachel, 8, was diagnosed with juvenile dermatomyositis, and the rarity of the disease and severity of her case took a heavy toll.
Now Rachel’s parents, Cheryl and Ray, want to raise awareness so other families can act faster and find treatment better suited to their child’s needs.

Cheryl said stress and exposure to other illnesses may have led to triggering JDM in Rachel. Cheryl’s two children, Rachel and Dylan, 12, switched schools from Tucson to Sahuarita and then back to Tucson. Plus, they visited family in California over the holidays and Rachel was exposed to strep throat.

After New Year’s, Cheryl said Rachel’s otherwise good health took a sudden turn.
"She had sores in her mouth and she couldn't walk," she said. "That’s how it all started and just day by day it just kept getting worse."

Rachel’s diagnosis

Rachel’s parents first took her to Banner University Medical Center in Tucson when she developed sores in her mouth, a rash on her face and had difficulty walking after New Year’s.

At first, UMC thought Rachel had strep throat and released her, but as Rachel’s condition worsened, the Maynards decided to take her to Santa Cruz Valley Regional Hospital. However, Rachel received the same diagnosis, Cheryl said.

A few more days passed with no improvement so the Maynards went back to UMC. This time, the hospital diagnosed Rachel with JDM and returned with a low-dose treatment of steroids, which didn't work, Cheryl said.

With no juvenile rheumatologist specialists in Tucson, the Maynards were transferred to Phoenix Children’s Hospital. There are only three specialists in Arizona and they are all in Phoenix, she said.

"In Phoenix, even there, they don't have the experience like anywhere else in the country," Cheryl said. "So they dealt with some, maybe a handful of JDM, but Rachel’s case was severe because she was decreasing in muscle strength day by day. We fought the general pediatric team because they were forcing her to take medication by mouth."

Cheryl said Rachel was having trouble with oral medication because of her weakened muscles. The Maynards met another family at the Children’s Hospital whose child also had juvenile myositis and gave them the information for a specialist in Washington, D.C. The specialist consulted with the Maynards and developed a new treatment plan that began to improve Rachel’s condition. By this time, Rachel had already spent a week in the intensive care unit and required a breathing tube.

Rachel spent January through May in the hospital undergoing treatments, observation and rehabilitation.

"I think if we would have gotten the right treatments right from the beginning we could have avoided going to the ICU, we could have avoided losing all of this muscle strength and now she’s having to relearn how to walk and all of that," Cheryl said. "Because when we got to Phoenix she was still able to take steps."

Rachel’s rehabilitation

Rachel has been doing regular therapy sessions at Tucson Medical Center since leaving Phoenix Children’s Hospital. During a recent session, Rachel gave her therapist a couple of high fives from her wheelchair while her brother, Dylan, sat next to her. The high fives weren't just given for accomplishments – they were a display of the progress Rachel has made since leaving the hospital.

"You know, you take for granted your kids walking," Ray said. "But to see her stand there and take four or five steps forward, you know, three or four months ago (she) wouldn't have."

That progress has only been possible through the Maynards' determination.

Five days a week they make the long trek to TMC for Rachel’s rehab sessions with some additional sessions on the weekends. She typically has 10 sessions of 40 minutes Monday through Friday. Rachel also does water therapy at home in the family pool most evenings.
On one recent afternoon, Ray tossed diving rings in a circle while Rachel, sporting eyelash-wearing, purple goggles, swam down to get as many as she could. Her time in the pool isn't just about rehab, but it also gives her a chance to move and play with the mobility she had before JDM attacked her muscle strength.

"The pool is an escape," Ray said. "It’s a chance for her to be a kid without the things that come with the JDM — the hard to walk, lack of strength. In the pool she doesn't have lack of strength, she can be independent. She was a very independent little girl."

As she floated in her backyard, Rachel was quick to say the pool is good therapy and pretty fun, too.

All of this effort doesn't come without stress and sacrifice. Between work, caring for both children, financial costs and meeting Rachel’s medical needs there is some natural strain the Maynards have had to learn to deal with.

"It’s a new normal," Ray said. "We're both self-employed and while the kids were in school we always had a moment to go have lunch together, spend some time together. There’s none of that. It’s all for (Rachel) and we gladly do it, it’s got to be that way. There’s tension sometimes between us — one feels like they're working more than the other."

And even though Cheryl and Ray may have to deal with the tension, they don't stay mad with each other at the end of the day, he said.

Raising awareness

What the Maynards want most is to raise awareness about juvenile myositis in the hopes other parents may be able to recognize the signs and get treatment quicker.

"Check out those aches and pains," Ray said. "What we thought was a growing pain, muscle soreness, was a muscle breakdown—not just a growing pain."

Cheryl wants parents to be the best advocates they can be should they have a child facing a similar situation, she said.

The Maynards credit having met the family at Phoenix Children’s Hospital with connecting them to new resources that helped improve Rachel’s condition. Now they want to be a resource for other families to point them to valuable sources of information like the Cure JM Foundation or specialists like Rider who can help them develop treatment plans.

Rachel has made progress since leaving the hospital. While she hasn't fully recovered, the Maynards are hopeful she'll continue to progress and gain strength. They also hope Rachel, who will be home-schooled in the fall, will eventually be able to return to campus.

Excerpts taken from the July 30th Green Valley News piece by Jorge Encinas