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."
Juvenile myositis is an autoimmune disease where the body's immune system attacks its own healthy cells and tissues, causing damage to muscles and pain. The disease is rare; it’s estimated two to four children in a million are diagnosed with it annually.
It comes in two forms. The kind Rachel has, JDM; and juvenile polymyositis, JPM.
Cases of juvenile myositis can be fatal, but with treatment, the mortality rate has drastically dropped.
James Minow, executive director at the Washington, D.C.,-based Cure JM Foundation, said current treatments have cut the mortality rate from 30 percent to about 5 percent.
Dr. Lisa Rider, deputy chief and senior research physician with the National Institute of Environmental Health Services in Bethesda, Maryland, said there was a time when one-third of cases would be fatal, another third would leave the patient wheelchair-bound, and one-third would make a full recovery.
There is no cure for juvenile myositis, but the disease can go into remission with treatment.
Getting to remission can be a long road. Rachel was diagnosed with JDM and admitted to the hospital in January. She stayed in the hospital until May and has been doing rehabilitation to recover lost muscle strength since then. She is still receiving treatments to prevent her immune system from attacking healthy cells all over again, but the disease is now under control.
"What was really a game-changer for managing this disease was the understanding that steroids treatments, basically a drug called Prednisone, coupled with Methotrexate together would essentially knock out the immune system," Minow said. "So you knock out the immune system so that it can't do anymore damage to the body."
However, the steroid treatment can take a while to complete and has to be carefully reduced or the disease can flare back up, Minow said.
Doctors and researchers have learned that treating the disease harder up front works better in getting the patient's immune system back under control and stops the aggressive attack on the body's own cells, Rider said.
Catching a virus, such as flu, or overexposure to UV rays can cause a flare-up for people with juvenile myositis. When the immune system detects illnesses, it will actively attack what it determines to be harmful invaders. Once the harmful cells have been removed the immune system will relax, but for those with juvenile myositis, the immune system does not simply stand down. In juvenile myositis patients' immune systems will continue to seek out cells to attack and the result is often damage to healthy cells and tissues, such as muscles.
What to look for
There are times when parents may not initially recognize the signs of the disease, especially if symptoms are mild, or they may mistake warnings as growing pains, laziness or crankiness, Rider said.
"It's really one thing if (symptoms) are progressing and getting worse," Rider said. "There's more difficulty doing things, there's progression of symptoms, maybe even involvement of other things like the skin, swallowing is troubled or having joint pain and stiffness. When other things start to happen or progress then it's definitely time to go to the doctor and get checked out."
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 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.
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.