it might be a reaction to too much sun exposure. He put her on cortisone and advised staying out of the sun. Although San Nicolas followed this advice, there was no improvement. Kendyl's cheeks turned a bright red, and she developed foot pain. She also became more tired, and all her cuticles became painful and seemed to be infected.
San Nicolas learned later that the cuticles weren't infected. Instead, the disease was causing the blood vessels to atrophy. When Kendyl's cuticles grew, they turned brown from lack of blood flow.
After another false diagnosis, San Nicolas was referred to a San Francisco specialist who confirmed JM through a blood test. It is not uncommon for doctors to misdiagnose JM sufferers since the disease is so rare that most doctors won't encounter it during their careers.
Although Kendyl had a difficult time taking her pills and dealing with medication side effects, she responded well to treatment. Now approaching her eighth birthday and another year at Franklin Elementary, Kendyl is symptom-free. Her disease is in remission, meaning she has been off medication for at least a year. San Nicolas is still cautious, however, because relapses could happen at any time.
One-third of JM sufferers will go into permanent remission, one-third will enter remission and suffer relapses and one-third will always be on medication. JM affects each patient differently. Some have mild symptoms while others might die as a result of the disease.
"I will always worry about it," says San Nicolas. "As a person who never got sick, I thought it was just a rash. But it was something terrible. Now I question everything. If she gets sick, I wonder if it will trigger (the disease). What happens when she grows up and gets pregnant; will it trigger something?"
San Nicolas was able to provide much-needed support when Suzy Clement's daughter was diagnosed with JM. Mielle, also a Franklin student, started having red blotches on her cheeks in early 2007. By fall of that year, the six-and-a-half-year-old had developed muscle weakness and soon couldn't walk far without getting tired. To walk up stairs, she had to pull on the railing or push on her legs. Her parents, Clement and Lenny Gonzalez, thought her kindergarten schedule might be wearing her out. But soon, Mielle couldn't go up stairs at all. She wasn't able to get up off the floor without crawling to a piece of furniture and using it to push herself up. Initially suspecting lupus, her doctor referred her to a pediatric rheumatologist. The diagnosis was JM.
Mielle initially responded well to treatment. But the drugs commonly used to treat JM are strong with powerful side effects. Mielle began a high dose of the corticosteroid Prednisone, which can cause mood swings, increased appetite and weight gain, altered weight distribution, bone density loss, stunted growth, high blood pressure and cataracts. She also began Methotrexate (a chemotherapy drug when used in higher doses), which can partially take the place of corticosteroids after it has had time to build up in the body.
Mielle has experienced various plateaus during the course of her treatments. She switched doctors and now goes to Stanford every week for intravenous injections of Methotrexate. She is also on Prednisone and Cyclosporine, an immuno-suppressant drug typically used in organ transplant recipients to prevent rejection of a new organ.
Although her strength has improved and she is occasionally able to ride her bike for brief periods, she still has a facial rash and signs of active disease, such as inflammation. Her weekly treatments often leave her so exhausted that she needs to sleep most of the weekend. She also deals with mood swings and anger, a side effect of the Prednisone.
"Mielle recently told me, 'My brain feels like it wants to jump out of my head and beat someone up,'" said Clement.
One problem of dealing with an uncommon disease is that treatment methods vary, and effectiveness is not guaranteed.
"There's no standard protocol of treatment," said Clement. "Every case and every kid is different. Kids don't respond to treatments the same way. So your kids start to feel like an experiment. Your 6-year-old is taking a combination of toxic, lethal chemicals, but that's what we have to do. It's bad enough knowing your kid has this disease and she has to undergo this treatment with horrible side effects. But we don't know if it's going to work or if what we're giving her is right."
Next month, the Gonzalez family, which includes 16-month-old brother Lucien, will travel to Chicago to seek more aggressive treatment from one of the few facilities specializing in JM. Even in a best-case scenario, Mielle will be under treatment for at least two to three more years. Her medical bills are costly for self-employed photographers Clement and Gonzalez, who pay completely out-of-pocket for their medical insurance.
This Saturday, the Gonzalez family and friends will host a multi-family yard sale that includes a wide variety of items donated by community members. Proceeds will help pay for the Gonzalez family's medical bills and a portion will go toward JM research.
Items for sale include toys and other items for babies and children, furniture, clothes and bikes, and more. Friends of the family, who are musicians, will be playing for tips, and Mielle will be hosting a lemonade stand.
