On Oct. 28, 1987, Tami and Don Slawson celebrated the premature arrival of their son Jacob into the world. It did not matter that he was a month early, as long as he was healthy. Like any first-time parents, they checked to make sure he had all 10 fingers and all 10 toes.
Their relief did not last long. After a couple hours, Tami learned that Jacob had been born with premature lungs and needed a respirator to breathe. After 10 days of anguish, Jacob began to breathe on his own.
However, that was not the end. Jacob developed regular infections in his respiratory system and ears. Because he was a preemie, his parents thought it was normal. It would be 14 years and a blur of specialists before they knew the truth about the rare disorder afflicting their son; years filled with the agony of uncertainty.
In 1991, the Slawsons rounded out their family with the birth of Samantha. Although not premature, Samantha would soon give her parents another scare. “The phone rang, and I looked at the clock. It was exactly four hours after Sami’s birth,” Tami recalls. “Again, it was the NICU [Neonatal Intensive Care Unit] doctor, but this time he was talking about a hole in her mouth.” Samantha was born with a cleft palate and needed surgery.
Jacob continued to show worrying signs. His shoulders developed an abnormal hunch. Don is a lieutenant for the Los Angeles County Sheriffs Department. So when Jacob started to show signs of a hunched back, a family member joked that he was wearing a bulletproof vest. Although treated lightly, it became obvious to Tami that this was serious, and something was definitely wrong. One day, it all came together.
“I picked him up to throw him into the pool by his arms,” she motions. “He couldn’t do it.” At four years old, Jacob’s muscles in his shoulders, elbows, back and ribs stiffened and prevented him from lifting his arms over his head. He was not weak; his body was incapable of moving that way.
Desperate for an answer, the Slawsons took Jacob to a series of orthopedic doctors, only to receive many inconclusive diagnoses. Hope for Jacob’s future was unpromising because of the ambiguous nature of the illness. Although unsure of Jacob’s ailment, doctors told the Slawsons there were no surgical options.
“My pediatrician, after exhausting all the orthopedics, said we needed to see a geneticist,” Tami recalls. That is when they met Dr. Rena Falk. Initially, Falk thought Jacob had a type of Emery-Dreifuss Muscular Dystrophy but could not confirm this because no test existed for the disease. “My head was spinning! I kept thinking ‘Jerry’s kids, death, wheelchairs, no!’”
Tami remembers thinking that day, as she drove the children home, pretending to be calm. When she got home, she ran. “I couldn’t see where I was running; I was crying too hard,” she remembers.
Over the next year, Tami absorbed all she could about the disease. She volunteered with the Muscular Dystrophy Association.
Hopes rose when a test was developed. Jacob took it. Five weeks later, it came back negative. The Slawsons were told Jacob had a “rare progressive neuromuscular disease of unknown origin,” which Tami and Don referred to as the “damned-if-we-know disease.”
They were back to square one.
Meanwhile, 18-month old Samantha developed severe breathing problems. Growing up, she watched television when she was not napping from exhaustion. One day, she turned blue from sleep apnea and required emergency surgery. Next, Samantha began showing more symptoms that made even less sense to her mother.
When she could not close her hands, Tami tried to excuse it by suggesting that maybe Samantha had slept on them wrong. And while Samantha experienced symptoms similar to Jacob, Tami and Don continued to link them to the cleft palate. It never occurred to them that their two children might be suffering from the same disease. “I could not handle another child like that,” Tami explains.
When Jacob went for his next visit to Dr. Falk, Tami took her daughter with them. “She started looking at her and looking at her, and I sent the kids out of the room because I could tell the look on her face,” Tami recalls. “She knew something.”
“After the kids left, she just looked at me and said, ‘Whatever’s wrong with Jacob, is definitely wrong with Samantha. You’ve got two kids with whatever’s going on.’” Tami broke down in front of the doctor. “It took everything in my soul to drive home with a smile on my face,” she said.
Jacob began having more breathing problems and grew a cyst under his chin. He came close to death during surgery because of breathing problems. Knowing that Jacob and Samantha had the same disease, doctors administered an array of tests including skin biopsies, blood work, ultrasounds and MRIs, to name only a few. “Oh God, the tests we did,” recalls Tami.
Eventually, the tests started forming a pattern; doctors administered yet another one. By this time, an overwhelmed Tami quit doing her homework on every new test.
“I’m just tired of thinking about it, and it’s just some stupid test that’s going to come out negative,” Tami recalls telling Don.
But three weeks later, a phone call forced her look to their family computer for answers. “We’re close. The test came back positive; we’re close to an answer,” the doctor’s assistant told Tami. “We think we know what’s wrong with them.”
Not knowing what the test had been for, Tami grabbed the paperwork from the doctor’s office and found mention of a single acronym that would change their lives.
“What’s an MPS disorder?” she panicked, “What is this?”
Prior to their diagnosis, Tami had heard almost nothing about MPS. The only familiarity came from a pamphlet she had seen at City of Hope when Samantha began having breathing problems of her own.
After the phone call from the doctor’s office, she logged onto the Internet. While searching on the Web, she came across a picture of a boy named Spencer. Just then, “Samantha walks in behind me and asks, ‘Why is Jake on the computer?’ It was Jacob; that was my son. I folded up and burst into tears,” she says.
On the screen of the computer, the little boy, Spencer, had all the same attributes as Jacob. “You could see the shoulders; you could see the hands; you could see all the characteristics of what this disease does,” she remembers. Spencer was the first clinical trial for treating MPS type one.
It was two years ago that Jacob and Samantha were diagnosed with a fatal mucopolysaccharide disorder, or MPS. A mucopolysaccharide is a long, jelly-like sugar molecule used in the connective tissues in the body. Children with MPS disorder lack alpha-L-iduronidase, an enzyme essential to normal functioning. The enzyme is needed for the body’s constant recycling of used cell materials, and without it, they accumulate, damaging organs, tissues and impeding function.
Symptoms and effects of MPS vary but can include headaches, vision and hearing problems, blockage of the airway, abnormal heart valves, carpal tunnel syndrome, sleep apnea, liver and kidney problems, hernias and problems with bone formation. Jacob and Samantha underwent even more tests. Doctors hoped to find MPS type six, because it allows for a longer life span.
According to the Food and Drug Administration, the life span for those with MPS type one varies with the severity of the disease. Children with the most severe case, Hurler syndrome, usually die early. Those with a less severe form, Hurler-Scheie, are not expected to live past their 20s. Those with a mild form of the disease, called Scheie syndrome, have a greater chance of living into adulthood.
June 14, 2001: the day Tami’s heart broke when she found out her children had type one.
“I still want to cry when I think about that day. It was a horrible day,” she says. “It took me about a week to digest it . . . and cry a lot. Then I got really, really angry and thought ‘nobody’s going to tell me my kids are going to die.’ So I started the walk/run.”
No cure exists for MPS.
With no treatment available, Samantha and Jacob managed their symptoms with over the counter medications. They took Advil for their headaches and slept connected to oxygen tanks. Then Aldurazyme, a synthetic enzyme treatment, was developed. Tami just missed getting her children into the clinical trial.
Fortunately, on April 30, 2003, the FDA approved the enzyme. Finally, 15 years after Jacob’s birth, came the first treatment for MPS type one. Although not a cure, the medication substitutes for the enzyme they are lacking, allowing their bodies to break down the mucopolysaccharides. Although it halts further deterioration, it cannot repair the damage done. “We started the enzyme in June; they’ve just been doing wonderfully on it. I didn’t expect such an improvement so quickly. They have tons of energy, liver size in both of them is reducing although they’re not back to normal yet. But they’re getting there. Their range of motion has been tremendous,” Tami says.
Jacob and Samantha receive a six-hour infusion of the medication once a week, every week. For the first six months, the Slawsons left their house at dawn to drive almost 50 miles to Cedars-Sinai hospital in Los Angeles. The children usually sleep during their treatment, while Tami stays up to monitor them and insure they do not have a bad reaction. “And a lot of times, when they get home, they sleep again,” Tami says. “The hardest part is that you lose a whole day. But it’s so worth it. Their quality of life has improved so much. I’d give up a week, every week if that’s what it took.”
As of January, Tami is able to treat the children at home. Although they are still on oxygen at night, Tami says she hopes to take them off it soon. Since treatment for Jacob and Samantha began in the summer, coordinating life and school around them has been a big adjustment for them; they have to miss one day of school each week. Tami says that the children at school were the ones who asked all the questions; the adults and teachers hardly noticed anything abnormal. “You know, Sami has got such a strong spirit, and to watch her come home and say ‘nobody will sit with me . . . .,’” Tami remembers with difficulty.
A sophomore at Bonita High School, Jacob says things are improving. “Now people are getting older, so they accept it more,” he explains. He says that in high school, his classmates are more accepting than in junior high, where little differences were a huge deal.
Currently, neither Jacob nor Samantha is involved in physical education. Tami says that it would be too difficult because their enlarged livers prevent their lungs from expanding to get enough air. However, both of them do physical therapy at home for one hour, every night.
It is hard to believe that these two ever lacked energy. Any time lost in the past is more than made up for now. Lively jokes dart across the living room between the two siblings as they playfully tease each other. On Jacob’s right arm is a display of wild colors, compliments of various markers. Samantha, with long hair and freckles, is on the verge of becoming a teen. “They’re the best of friends and worst of enemies,” says Tami. Between impersonating Arnold Schwarzenegger and singing a song she made up, Samantha talks about her dad, pointing out pictures of birds and Mammoth, Calif., hanging on the living room walls. “Are you looking at those pictures?” she says with a smile. “My dad took those. And he took that one. I’m not that good,” Samantha confesses, “but I take pictures like my dad.”
“We’re kind of a team,” Tami says of Don. “When I fall, he picks me back up. He’s so supportive. And it’s hard, it’s hard to have children to face something like this.
“I think that’s the hardest part on us . . . to see them struggle with it,” Tami confesses. “You know, your kids fall down and get a boo-boo; you’re supposed to put a Band-Aid on it, and they’re supposed to be fine. There’s no real quick Band-Aid for this one.”
But things are still tough. Samantha had to start chemotherapy treatments in February for painful tumors.
Although she is an advocate, openly working to promote MPS awareness and treatment, Tami was not always willing to talk about her children’s disease.
“When you’re first diagnosed with something like this, you’re trying to understand it yourself,” she attests. “You try to go on with your life and just try to pretend that it just isn’t there. And then you get to a point where you have to talk about it for your sanity. If not for your own sanity, for your children’s sanity. People don’t understand and are picking on them, saying, ‘What’s different about him or her?’ And so you have to start talking about it. It saves your life, I think.
“I digested all the facts and realized that this is something people need to know about, and not just for me,” Tami admits.
Many people have never heard of the disease, and since her children’s diagnosis, Tami has made it her goal to increase awareness. For the past three years, she has held a walk and run in La Verne to raise money for MPS research. “It’s really not only raised awareness for the community. It’s raised awareness for MPS families,” Tami says, “realizing we’re all so close, but we just didn’t know about each other.”
At the time of diagnosis, Tami thought she was the only one with MPS children. For last October’s walk and run in La Verne’s Oak Mesa Park, she managed to get 12 MPS families involved. Tami says she’ll continue to organize them until they find a cure.
Currently, enzyme replacement therapy has only been approved for MPS type one. Therapy for types two and six are in clinical trials, and type four is under research.
For more information about MPS, visit the MPS Society at www.mpssociety.org. For information about the annual MPS walk and run in La Verne, visit www.mpsrun.com.