De Soto family finds knowledge heals in dealing with girl’s rare genetic disease
As Kate Baublitz recounted a recent change in her daughter Amanda's medication, the 7-year-old interjected the correct name for the antibiotic.
"Ranitidine," she said, before rattling off the names of other polysyllabic medications she took regularly.
It is typical of the interest the young De Soto girl has in the treatment of her rare genetic condition, her mother said. At 2 years old, Amanda disarmed a Sunday school teacher when she ran through the long list of items of which she was allergic, including "all lactate derivatives."
The youngster, prone to asking the exact reasons for her mother's requests, appears to accept little unquestioned -- even from her many doctors.
"They're dumb, but they're smart in ways too," said the girl who recently caught a doctor in what could have been a life-threatening prescription error.
Amanda's conflicted feelings toward the medical profession are understandable. She has seen and baffled many doctors in her seven-plus years.
Amanda suffers from Hyper IgE Syndrome. The infection-fighting T-cells in Amanda's body produce incredible high levels of the immune globulin IgE. The consequence, Kate explained, was that her daughter's immune system was so hyperactive that it attacked her own system.
The condition in the fourth of the Baublitz's six children first manifested itself when Amanda was 3 months old, her mother said.
"She had what we thought at the time was an allergic reaction," Kate said. "She had projectile vomiting, wheezing in her lungs, and a bright red rash from head to toe."
From her first outbreak, Amanda's life has been filled with physicians and examinations.
"When she was little, we were at the doctor's office or urgent-care at least once a week," Kate said. "We had lots of specialty visits at Children's Mercy and KU, going from department to department. We were seeing all these individual specialists for each symptom."
To make matters worse, Amanda contracted MRSA, an antibiotic-resistant staff infection. Still, Amanda only had one extended hospital stay. Those were avoided because of Kate's experience in home health care that allows doctors to trust her and her husband, Brent, to take on emergency room procedures.
"They let us give her emergency breathing treatments every 30 minutes and administer high doses of steroids like they would in the emergency room," Kate said. "I've even done wound cultures."
Amanda has only been completely clear of rashes or sores that give her condition its common name, Job's Syndrome, for three to four short periods when she was taking oral steroids, Kate said.
Steroids however had side effects that now limit their use to severe asthma attacks.
"They clean me up but totally break me out," Amanda said of the rebound effect when she stopped taking the drug.
In her infant and toddler years, doctors told the Baublitzs the eczema, asthma and numerous allergies were childhood conditions that would disappear when she was about 5 years of age.
Unfortunately, Amanda kept getting worse, with the only respite from the eczema, asthma and allergies coming in the rare instance she had a flu or cold.
"That's when we began to think there's more to this because whenever she got a fever she cleared up," Kate said. "Her body was too busy fighting something else to attack itself."
Kate said she had read something amongst the material provided by different physicians that mentioned Hyper IgE Syndrome. It mentioned the eczema, asthma and rashes, but also other characteristics of the condition, such as some curvature of the spine, which seemed to fit with Amanda. When Amanda was 5, her doctor found her IgE level was at an "off-the-charts" level and concluded the girl probably had the syndrome.
"That's pretty much where they left it," Kate said. "They really didn't do anything with it."
That's where things remained until January 2003, when Amanda had a severe asthma attack and saw a worsening of her constant rash and eczema -- or in her mother's words, was "hit by everything at once."
A new medication was suggested at that time, but Amanda needed testing to ensure she wasn't allergic to the drug, Kate said. The family was told the testing could be done in three to four months.
"She was having all these problems, and they were saying three months," Kate said. "That just wasn't going to work."
Instead, the Baublitzs took Amanda to Kansas University Medical Center, where Dr. Nancy Olson and a resident, Dr. Timothy Nichols, not only agreed to do the antibiotic testing but researched and confirmed Kate's suspicions of Hyper IgE Syndrome.
The diagnosis was of a condition without a cure. Although a drug was being tested that acted as an anti-IgE agent, Amanda wasn't a candidate for the study because of the incredible high level of the chemical her body produced.
"It has to be matched with the level of IgE in the body," Kate said. "Amanda has such a high level it would be dangerous and too expensive."
With the diagnosis, Amanda got a regular prescription to one drug she had taken in the past that had been shown to cut the level of IgE in the body
After Amanda's severe 2003 outbreak, the De Soto USD 232 health nurse informed the family Amanda could only attend school when she was free of open sores because of her MRSA infection.
That, coupled with the many days Amanda wasn't physically capable of going to school, made traditional schooling impossible, Kate said. The Baublitzs decided to home school Amanda through the Basehor-Linwood school district's Internet program.
"I miss playing with the kids, but it was boring because I wasn't learning anything new," said the girl who loves to play chess, draws surprisingly realistic human figures, and picks out songs on the piano she has heard in church and elsewhere.
This spring, Kate's sister Diana Zwahlen heard a radio program on a Christian station that provided children sponsorships for a food supplement. At the urging of her sister, Kate made an application and got a sponsorship for Amanda.
The opinions of Amanda's doctors of the food supplement were mixed, Kate said. Some were openly skeptical, others conceded it should give some boost to her daughter's immune system and energy level, she said. By contrast, Amanda's pain management doctor, who researches alternative medicines, was encouraging.
Kate is convinced the supplement made a difference. On Easter Sunday, three days after starting on the supplement, Amanda had the strength to play outside with her cousins.
Her mother said Amanda's increased energy level was evident Monday as the girl raced through her home playing with the family's 4-year-old dog, Jozi.
"I'm finding out what it's like to have a normal 7-year-old," the mother said.
The supplement was supposed to help the body's cells communicate better and work better the longer it was in the body, Kate said. She remained hopeful it would provide continuing benefits to her daughter.
But even on that good day, Amanda ran with a limp as she favored a leg with a persistent sore. Although not as severe as in the past, Amanda's sores and rashes have flared up recently. Kate attributed the outbreak to a change in Amanda's basic antibiotic that came when Medicaid substituted a cheaper drug for one her daughter had been taking. Kate said doctors now had to adjust the level of the new medication to make it more effective.
"We live and learn," she said. "Every couple of months, we learn something new. We've been told we're kind of a walking textbook for other people."
Kate is anxious to share her knowledge of Job's Syndrome. At a recent visit to Worlds of Fun, she noticed a young girl with eczema. From the child's mother, she learned she had many predictors of the syndrome, including a family history of late retention of baby teeth. Kate suggested the woman explore the possibility of Job's Syndrome and the two families have remained in touch.
Amanda may soon contribute to medical science's basic understanding of the syndrome. Kate said her daughter was on the list to be part of a study at the National Research Center in Bethesda, Md., that was attempting to identify the gene responsible for the syndrome. Amanda would undergo DNA tests, bone-density scans, and an MRI among other tests. In addition, doctors would probe the family's medical history.
"They'll do a lot of medical testing over a three-day period," Kate said. "A lot of those things they'll do on Brent and I."
Research offered hope that doctors might one day treat the syndrome instead of its symptoms or that the food supplement would work on the cellular level as suggested, Kate said. But she said she and her husband have learned that patience and wisdom were the best way to deal with the appropriately named Job's Syndrome.
"We have very strong faith," she said. "We've prayed and prayed over this. What I've come to believe is her healing is in knowledge.
"If we can find one thing she is allergic to, we can remove and prevent her from suffering. Everything we do on a daily basis, that is healing. That wisdom is just as important in the end."