Regaining Quality of Life

IN JULY 2001, Thelma Christison’s sister came for a visit, and during an afternoon of errand running, their car came to a stop in the middle of a busy intersection. Her children remember laughing later about their mom’s stamina; even though she was nearly 70 at the time, she hopped out of that car and helped push it to the side of the road. Just four months later, Thelma would be too weak and incapacitated to lift the newest of her 10 grandchildren. The Fresno, Calif., resident didn’t know it at the time, but she was suffering from the early stages of a rare neuromuscular disease that would alter the course of her life.

“I had always been very healthy, and at first I thought the symptoms were all in my head,” says Thelma. “My first doctor was puzzled too — early blood tests showed I had high CK levels and I was taken off all my medications to see if Lipitor or another prescription was the problem. But instead of getting better, I got worse.”

Doctors were puzzled about why Thelma’s creatine kinase (CK) levels were high. CK is an enzyme that becomes elevated in the bloodstream by conditions that damage the skeletal muscles, and also can be influenced by cholesterol lowering medications, which is what Thelma’s first doctors suspected.

Thelma’s journey to diagnosis was difficult given her weak physical state. She was frequently bedridden and her daughter, Terri, who is a chemist, acted as a patient advocate, going with her to all her doctor’s appointments and often helping to interpret the sometimes complex assessments of her mother’s health crisis.

After struggling for several months to find an answer to her deteriorating condition, Thelma began taking prednisone and improved dramatically. But whenever the prednisone dose was reduced, her symptoms returned. Thelma switched doctors, a move that led her to be referred to neurologist Dr. Jonathan Katz. Dr. Katz assessed her symptoms and her muscle biopsy, which led to the diagnosis of an immune-mediated necrotizing myopathy that was suspected to be related to her statin medication.

Understanding Immune-Mediated Necrotizing Myopathy Associated with Statins

Immune-mediated necrotizing myopathy is a newly reported muscle disease that responds to immune medications. It is less known than polymyositis, which is easier to diagnose because of the chronic muscle inflammation seen on biopsy. All these disorders affect skeletal muscles (those involved with making movement) on both sides of the body. Here are some facts about this new condition:

• The disease presents with progressive muscle weakness that starts in the proximal muscles (muscles closest to the trunk of the body), which eventually leads to difficulties climbing stairs, rising from a seated position, lifting objects or reaching overhead.
• It results in elevated CK levels in the thousands.
• It usually begins while taking statins, and continues despite discontinuation.
• Muscle biopsies show no evidence of inflammatory cells and, instead, show only necrosis (dying tissue).
• The disease is responsive to immune medications like IVIG, prednisone and others.
• Thelma was one of the first patients diagnosed with this new disorder and was one of 25 cases reported in one of the first descriptions of the disease, which was reported on in the February 2010 issue of Muscle & Nerve.

Thelma was re-treated with 60 mg per day of prednisone, and she gradually improved. But the doses could never be lowered enough to avoid the side effects, and relapses kept occurring whenever tapering was attempted. After prednisone was stopped, she improved with cyclosporine, but it also had to be stopped because of kidney failure. Several other agents were attempted but did not work well, and she had numerous relapses of weakness. Thelma also underwent a second muscle biopsy that, according to Dr. Katz, confirmed she was suffering from necrotizing myopathy. Dr. Katz finally decided to start her on a regimen of IVIG, a move that would dramatically improve Thelma’s physical strength and energy levels.

An Uphill Battle with Insurance

Like many patients who are prescribed IVIG off label, Thelma undergoes an annual ritual of being denied coverage for her infusions. Thankfully, Dr. Katz and his office team have acted as advocates on her behalf, getting her approved annually for another year of treatment. “They turn me down every year, and then Dr.Katz has to go back and prove to them that it is necessary,” Thelma says.

Even though Thelma has obviously responded positively to her infusions, which have tapered off to once every six weeks, her insurance battle is not an unusual one. Most often, when an insurance company denies coverage of IVIG, it is on the grounds that the treatment is considered experimental or investigational. Insurers may take this position when IVIG — indeed, any treatment — is prescribed for what is called an “offlabel use.” An off-label use is one that is not listed in the labeling approved by the U.S. Food and Drug Administration. As a general rule, when an insurer denies coverage of an off-label use, it is very hard to convince them to make an exception — making Thelma’s case even more unique. Her case has been so fascinating that Dr.Katz and several other physicians used her as an index case in a medical journal article about new IVIGresponsive muscle diseases. The article was published in October 2009.

“Dealing with this insurance company was as frustrating as you can ever imagine,” says Dr. Katz. “The condition was clearly responsive to immune medications, and we had tried just about everything else before starting the IVIG. We made every effort, including publishing with doctors from Harvard in a respected peer-reviewed journal. We provided the insurance company with all the information they could ever want about the medications, improvements and relapses. Nonetheless, they would send us these thoughtless notes saying the therapy was ‘experimental,’ whatever that means. They asked us for the same records over and over, and did nothing to facilitate finding someone who could just listen to us. We’d kick and scream, but Thelma still missed some of her therapy, and my office personnel put in hours of unnecessary work.”

From a Dire to a Positive Prognosis

Thelma has been undergoing IVIG treatments for more than three years now, and she remains in complete remission. She receives her treatments in a homecare setting, and each infusion takes about four hours to complete, a time investment Thelma says is well worth the effort. “I have five children and 10 grandchildren, so I have a lot of motivation to get well,” she says while laughing. “When I was first diagnosed, I would have the grandbabies come sit beside me on the couch. I was afraid to pick up the little ones because I was so weak — I thought I would drop them.” At 80 years old, Thelma knows she will never be as active as she once was, but she is thankful that a “miraculous” treatment like IVIG exists and that it has restored so much of her quality of life. “I went from being bedridden to being able to go on trips and cruises since I started IVIG,” she says. “I’ve gotten strong enough to walk, make meals, and lead a somewhat normal life.”