Alyssa's angels: one family's partnership with NIH research
By Raymond MacDougall
Associate Director of Communications, Division of Intramural Research
For many high school students, life is a balancing act of school, friends and outside activities. For 15-year-old Alyssa Meisel, juggling her schoolwork and hobbies is the easy part. She rides horses, plays softball and is learning to play the piano. But she also manages, with the support of her family and her doctors, to keep a rare metabolic condition in check.
Before Ms. Meisel was born, doctors tested and diagnosed her with a genetic condition called methylmalonic acidemia (MMA). The disorder limits her body's ability to metabolize protein; an excess can damage organs such as her kidneys or pancreas or could cause cognitive impairment.
"Alyssa has lived with a restricted protein diet her entire life," said Denny Meisel, her father. "She is allowed to eat other foods, but we measure them and make sure we understand how much protein she is getting." She receives much, but not all, of her daily nutrition through a feeding tube. Some of her favorite foods to eat are dill pickles, popcorn and French fries.
For a week in July, Ms. Meisel and her family visited the National Institutes of Health (NIH) Clinical Center, where the teenager is participating in a clinical and laboratory study of MMA. "I've been here four times," she said, recalling that her first visit was at the age of 7. That was shortly after Charles Venditti, M.D., Ph.D., investigator in the Genetic and Molecular Biology Branch of the National Human Genome Research Institute (NHGRI) launched his NIH lab as part of the Physician Scientist Development Program, called the Organic Acid Research Section.
Dr. Venditti's research team and the Meisel family are working together to improve therapies and ultimately find a successful treatment for patients with MMA. For their part, the Meisels launched "Angels for Alyssa," a charitable foundation that helps fund research on MMA.
"We created the Angels for Allyssa Foundation so we could get tax deductible contributions associated with the research," said Bonnie Meisel, Alyssa's mother, who serves as the foundation's treasurer. The foundation has raised money to support MMA research at NIH and has worked to expand its network of supporters, which includes other families who raise research funds. "We're very grateful that this team right here is together and researching Alyssa's disease," Mrs. Meisel said.
MMA is a recessive condition, so neither parent is affected. Her older brother, Clayton is not affected either. But a baby brother who would be just a year older than Ms. Meisel, named Blake, was diagnosed soon after he was born and survived just one month with the condition. MMA affects as many as one in 67,000 children born in the United States annually.
"My understanding of methylmalonic acidemia is that there's an enzyme deficiency," Mr. Meisel explained. "It's a genetic disease that affects the metabolism of protein."
The key to staying healthy, for Ms. Meisel, is management of her nutrient intake. Her diet is formulated by a metabolic physician and additional foods require her and her parents' care in selection. But her sometimes-precarious health doesn't slow down Ms. Meisel. In response to Mr. Meisel's prompting about the things she can't do, she replied: "Eat protein."
"Alyssa was fortunate to have the prenatal diagnosis," said Mrs. Meisel. "She's been treated since really before birth. She has been doing really well with the disorder compared with other kids." But Ms. Meisel still faces health challenges, including frequent hospitalizations, cyclic vomiting and acute pancreatitis.
On their recent visit, Ms. Meisel and her parents attended multiple tests and consultations. The research team measured Ms. Meisel's kidney function, used stable isotope breath testing to assess her MMA enzyme activity, studied her brain structure and biochemistry and analyzed her blood and urine. She also met with Jennifer Sloan, Ph.D., an NHGRI certified genetic counselor who has been part of the MMA research team for the past 9 years.
"The parents have been amazing this week in helping us develop new testing strategies for our protocol" said Irini Manoli, M.D., Ph.D., a physician scientist and staff clinician in NHGRI's Genetics and Molecular Biology Branch, who was an ever present part of the clinical visit. "They have been very helpful and very committed to the research-and we don't have that every day."
"We're part of a wonderful collaboration between the families dealing with MMA, who have long supported our research programs and the NIH," Dr. Venditti agreed. "This is allowing us to make strides in our understanding of the disease and possible treatment approaches."