Anything for a Cure
When Randall and Marylyn House adopted their infant daughter Tiffany in 1983, they imagined her life would be without limits. “She was so beautiful and perfect,” Marylyn recalls. “We knew she was going to be President or a movie star.” But as their little girl grew, trouble emerged. Tiffany was slow to walk and climb stairs and struggled to fight off even a minor cold. By grade school, she was healthy enough to play tennis and join a swim team but remained clumsier and weaker than her peers. “I tripped a lot and couldn’t do a sit-up,” she says. “I thought I wasn’t good at sports. I didn’t think why.”
At 11, the answer became searingly apparent. Swimming in the family pool in San Antonio, Texas, Tiffany suddenly couldn’t kick her legs hard enough to keep from sinking. “That’s when I panicked,” says Randall. Finally, after seeing several doctors, came a grim diagnosis—acid maltase deficiency, or Pompe disease, an incurable genetic disorder that affects one out of every 40,000 babies born in the U.S. Specialists told the Houses that Tiffany’s muscles would inexorably deteriorate, and within a few years she would no longer be able to walk or breathe on her own. Pompe would also cause her spine to curve into an organ-crunching “S”. If she lived to celebrate her 20th birthday, they would be lucky. It was a verdict the Houses simply refused to accept. “She was our baby,” says Marylyn. “We couldn’t watch her die piece by piece.”
Now they may not have to. Powered by parental love, a family fortune and sheer determination, the couple have spent $4.6 million of their own money on conferences and research on Pompe disease—helping fund a groundbreaking enzyme replacement therapy headed for FDA review later this year. Since participating in clinical trials of the treatment partially funded by her parents at Erasmus Medical Center in Holland, Tiffany’s own recovery has been remarkable. Now 22, she is set to graduate with honors from the University of Texas at San Antonio. Although confined to a wheelchair, she has undergone surgery to straighten her spine and has regained significant muscle function. Above all, she dares to dream—of graduate school, marriage, a family. “I would not be alive today,” Tiffany says, “if it weren’t for everything my parents have done.”
Scientists who study Tiffany’s condition agree. While it remains too soon to tell if the new therapy offers a lasting cure for Pompe disease, experts say it may improve the quality of life for thousands of sufferers. “It’s not just for their own child—they move heaven and earth for other children as well,” says Dr. Rochelle Hirschhorn, a researcher at the New York University Medical Center.
It’s a role the high school sweethearts never dreamed they’d have when they wed in 1970. Shortly after their marriage, Randall took over his family’s construction firm, and Marylyn did the books. Business boomed, allowing the couple to build a Spanish-style home on 56 acres. But what the Houses longed for most was a family. They adopted Tiffany and, in 1985, Andrea, now 19. That year Marylyn also gave birth to a son, Randy.
By then, the Houses began to notice that Tiffany was lagging behind physically. “We just thought she was slow to develop,” says Randall, 58. Doctors tested her for an array of diseases, but each time the results came back negative. “I’d say, ‘She’s fine,'” Marylyn, 58, recalls. “And I’d say, ‘No, she’s not,'” says Randall. “‘She has something.'”
After watching Tiffany struggle to stand up from a chair during a family visit, Randall’s cousin Dr. Roy House, a pediatrician at the Mayo Clinic, first suspected a muscular disorder. On his advice, the family flew to the Rochester, Minn., clinic, where, just before Tiffany’s 12th birthday, doctors gave them the news. “I was like, ‘Okay, give us a pill and let’s fix it,’ ” Marylyn says. But it wasn’t that simple. Pompe sufferers lack an enzyme that breaks down sugars in the muscles and turns them into glucose, the body’s energy source. Instead, sugars clog the muscles, causing them to deteriorate. Newborns with the disease rarely live more than a year. Late onset cases, like Tiffany, typically die of respiratory failure. There was scant research on the ailment—and no hope.
By mid-seventh grade, Tiffany was too weak to go to school and spent up to 20 hours a day on a ventilator. Eventually her spinal curvature made it impossible to walk. Embarrassed by her appearance, she grew reclusive. But the disease had the opposite effect on her parents. Determined to better Tiffany’s odds, they founded the Acid Maltase Deficiency Association, a research organization and support group. They helped fund four conferences on the disorder and traveled the world meeting scientists.
Encouraged by word of an experimental therapy to inject the missing enzyme into Pompe patients, the Houses poured money into two research centers about to launch clinical trials. One, at Duke University, focused on infant patients; the other, in Holland, would include three late-onset sufferers. In 1999 Marylyn moved to Europe with Tiffany in hopes of having her included in the Dutch study but refused to use money as leverage. “They never said, ‘If you don’t treat Tiffany, we’re not interested,'” says Dr. Arnold Reuser, who helped run the trial. Three months later, after passing tests that proved her eligible, Tiffany was accepted for treatment.
Initially, weekly enzyme injections seemed to have little effect. While Marylyn rarely left her daughter’s side, Randall held the family together in Texas. “I made some ridiculous comment, like, ‘If she doesn’t make it, she’ll have made headway for others,'” recalls Jordan Overcash, a family friend and Tiffany’s personal trainer. “He broke down in tears and said, ‘I just want my baby to live.'”
Then in 2000, after surgery to straighten her spine, Tiffany’s breathing and muscle control dramatically improved. Later, the Houses got the FDA to allow them to have the enzymes shipped to Texas. Doctors don’t know if her symptoms will again worsen, but for now, she is able to work out in a home gym with weights and a bike. “It used to be she could barely pedal,” says Overcash. “She goes a mile and a half now.”
Tiffany says she may channel that energy into a career as a patient advocate. For now, she cherishes little victories. “I’ve proved them all wrong!” she says. All, that is, but the mother and father who refused to quit on her. “I hope one day they won’t have to worry about this,” Tiffany says. “They deserve not to have to fight.”
By Richard Jerome. Macon Morehouse in San Antonio