Tiffany House was just 11 when she was diagnosed with a rare and often fatal disease called Acid Maltase Deficiency. Doctors told her she wouldn’t live into her 20s.
Now 26, House has been called a medical marvel, bucking her prognosis and leading a full life. She is president of the Acid Maltase Deficiency Association, created in 1995 by her parents, Randall and Marylyn House, to assist in funding research on her disease, often called Pompe disease, and to promote knowledge of Pompe. She is also a board member of the International Pompe Association and is the patient representative to the Food and Drug Administration, fighting to extend treatment possibilities to all patients.
“As I see it, when you are dealing with a disease as rare as Pompe, it is vital for patients to learn how to advocate for themselves,” says House, who received bachelor’s and master’s degrees in English from UTSA. She’s now in her second year of law school at St. Mary’s University and was the first president of the school’s Evening Student Bar Association.
Pompe disease is a double-recessive genetic disorder that causes progressive muscle weakness. It is caused by a deficiency of acid alpha-glucosidase, a lysosomal enzyme that breaks down glycogen, converts it to glucose and is required for normal muscle development and function. It occurs in about one in every 40,000 births and affects approximately 5,000 to 10,000 people worldwide.
Most babies with the disease die from cardiac or respiratory complications before their first birthday. House was afflicted with the delayed onset form of Pompe, which is less rapid but also fatal. Patients who develop symptoms while they are young typically die by the second or third decade of life.
By the time of her diagnosis, House’s lungs were functioning at 40 percent of normal. She was given a breathing machine to wear nightly. Her health rapidly declined. But the family never gave up. Shortly after House’s diagnosis, her parents created the Acid Maltase Deficiency Association and gathered together a team of researchers from around the world who were working on the disease.
Four years later, they learned of a clinical drug trial in the Netherlands that would eventually change their daughter’s prognosis, and her life.
“In 1995 there was nothing, no cure for the disease,” House says. “But by 1999, they started trials in the Netherlands. It was the only place they were treating [the] late onset form of the disease.”
House was accepted as the first patient to try an experimental enzyme replacement therapy, using first rabbit’s milk then Chinese hamster ovary cells to replenish the acid alpha-glucosidase enzyme her body was lacking.
“It was all very surreal,” she says. “There was nothing else to do, so we went with the flow.”
In all, the Houses spent $4.6 million of their own money to fund her treatment and research. And it worked. Not only was the disease halted, but her stamina has also increased. House is able to talk about facing life in the next decade.
Treatment for the disease is now available in the United States, but on a limited basis. Patients routinely get turned away. So House continues advocating for treatment for others, juggling law school, family and friends. Still, she doesn’t consider herself a marvel or a savior.
“I haven’t done anything spectacular,” she says. “All the credit goes to my parents for forming the organization and by getting scientists together to start things. They showed me you don’t just give up. You try to find the solution.”
- Jason B. Johnson
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