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The Wilderness of Rare Genetic Diseases and the Parents Navigating It

Paula M Naranjo/Parent Editor

By Brendan Borrell | July 7, 2020 Updated 5:57 a.m. ET

“Rare parents” are often left charting a world of unknowns. But their persistence has paid off with more advanced treatment options.

Credit…Lisk Feng

Anne and Jerry Van Wyk didn’t notice anything unusual about their son, Reid, in the days after his birth in June 2001. But on his 10th day, when Anne Van Wyk tried to wake her newborn, she thought his breathing was irregular.

Jerry Van Wyk observed something was off, too. They rushed their son to a clinic near their home in Mancato, Minn., and then to a hospital emergency room, where doctors discovered Reid had an enlarged liver. He was airlifted to Minneapolis, where he underwent a battery of tests over the next four days.

Doctors told the couple that Reid’s arteries were turning to stone. Calcium was building up, blocking the flow of blood, and straining his heart. There were fewer than 200 documented cases worldwide of generalized arterial calcification of infancy, or GACI. Most were not surviving past their first year. “They sent us home without much hope at all,” Anne Van Wyk said.

About a month later Reid died. He was seven weeks.

At the time, there was no test available to examine the genetic cause of GACI, and almost no information about the rare genetic disease online, the Van Wyks said. Over the next decade, the couple experienced six miscarriages and another death linked to the condition. They had three healthy children during that time, but still felt cursed and alone. “How could this be happening with us?” Jerry Van Wyk asked.

person holding baby's index finger

Rare diseases are quite common, conversely. In the United States, the National Institutes of Health defines a rare disease as any condition affecting fewer than 200,000 people. But the 7,000 or so known rare diseases affect as many as 10 percent of the U.S. population. About 80 percent are genetic and about half appear in children, many of whom don’t survive into adulthood.

Shortly after learning that their child has a rare disease, parents often feel alone as they navigate a sea of acronyms, a maze of hospital corridors and piles of unpaid bills. Some will start to lose faith in their doctors and the medical system to provide for their child’s particular needs. But treatment options for children have gotten better in recent years — in part, as a result of parents’ grit.

The parents, also called “rare parents,” have discovered power in numbers. They’ve learned how to connect with other families experiencing what they are going through, and then join forces to raise money and support research that could change their child’s life.

“When I was practicing clinical genetics, it was limited to diagnosis and prognosis,” said Jim Wilson, M.D., Ph.D., the director of the gene therapy program and the orphan disease center at the University of Pennsylvania’s School of Medicine. “Now, in a limited number of diseases, there are potential treatments, if not cures.”

Diagnosis represents the first step on this rare disease journey. Sometimes doctors will notice something off about the child during a newborn screening, and a genetic test will identify a known mutation in the DNA. But not all conditions are so quickly detected, and it can take several years for parents to get a confirmed diagnosis.

About half of all children never get that far, according to Marshall Summar, M.D., the director of the Rare Disease Institute at Children’s National Hospital in Washington, D.C. “When you sequence someone’s DNA, you are going to find a lot of changes,” Dr. Summar said. “Figuring out which change might be the one that is causing it is a tremendous challenge.”

woman in white scrub suit standing near white printer

Genetic counselors warn parents beforehand that they may not get a definitive answer as to what condition their child could have. They may have to check back each year. Dr. Summar estimates that between five and 10 new rare diseases are described in the scientific literature every week, making it challenging for the medical field to keep up.

Meanwhile, the realization that a child may have a debilitating, lifelong condition weighs heavily. “Some parents, particularly mothers, blame themselves,” said Lemuel Pelentsov, Ph.D., a nurse who studies the needs of rare disease families at the University of South Australia, in Adelaide. In a 2016 study by Dr. Pelentsov and his colleagues, about 40 percent of the 300 rare parents surveyed reported being treated for depression and an equal number for anxiety. “One of the things they do to combat that,” he said, “is get very invested in the child’s disease.”

When parents reach out to other parents, they are not simply looking for emotional support or advice. They are rebuilding a social life, one that will revolve around their child’s disease. Many rare diseases have their own support groups. Global Genes is an umbrella group that supports 600 disease-specific foundations, as well as parents of children whose diseases are so rare they have no foundation.

“We encourage folks to work together,” said Kimberly Haugstad, the organization’s executive director whose son has a rare form of hemophilia, a condition in which the blood doesn’t clot normally. “The parent is going to come from such different places in their own walk of life.”

Each year, Global Genes hosts a “Rare Boot Camp” to mentor and teach parents how to set up a nonprofit, create patient registries and fund research. After attending the boot camp, the Van Wyks and other parents founded GACI Global, an organization that connects families affected by GACI, along with medical professionals.

Adding to the unknowns, parents must figure out if they want to create a support group, raise awareness or fund research. Rather than setting up a small nonprofit specifically for a rare disease, they may decide to establish a research fund with a pre-existing organization.

If the research is far enough along, families also seek ways to accelerate cures or therapies, forging relationships with scientists and companies.

For common diseases, like heart disease or diabetes, pharmaceutical companies compete with each other to get patients to ask their doctors for their drugs. With rare diseases the situation is essentially reversed, with parents courting researchers and drugmakers to get even a single drug on the market for their children. To do this, parents compile detailed records of symptoms and create polished presentations to persuade them the disease is a good investment.

Every parent brings their own set of skills. In October 2012, Maria Picone’s daughter was born with Prader-Willi syndrome, which causes severe intellectual disability. After joining a Facebook group called “Living Well with Prader-Willi Syndrome,” Picone learned from other parents that children were also passing out frequently, a symptom that wasn’t widely studied or properly treated.

person in white long sleeve shirt

Picone and her husband, who both had a background in software development, started a company called TREND Community that turns such data-rich Facebook discussions into what she calls “Community Voice Reports.” Those reports can then be shared with companies and regulators, like the U.S. Food and Drug Administration.

Dr. Wilson said his 360-person team at the University of Pennsylvania’s School of Medicine not only runs clinical trials on potential therapies, but the Orphan Disease Center, which is part of the School of Medicine, also distributes up to $5 million in grants each year to other research teams in the rare disease space. “The question is how do you select what disease or what disease groups to work with?” Wilson asked. “I wish I could tell you there is a magic formula.”

While the Orphan Drug Act in the United States has helped get new drugs for rare diseases on the market, its exclusivity provision, critics say, has kept drug prices high. Some parents and organizations have kept a financial stake in technologies coming out of the research they fund, or founded their own companies to develop drugs. These moves give them more control in the drug development process and the potential to ensure that the drugs are affordable to those who need them.

The Foundation for Angelman Syndrome Therapeutics, for example, an all voluntary organization of families and professionals, hopes to commercialize a drug candidate for the neurological disease. Clinical trials began in January. That accomplishment “speaks volumes to the determination of some parents,” said the organization’s founder, Paula Evans.

As for the Van Wyks, they ended up having the large family they always wanted. In late 2012, however, the couple learned that their youngest daughter, Natalie, tested positive for GACI while in utero. The ultrasound showed that calcification was rapidly progressing. The couple reached out to a specialist in Germany that they had been in contact with since Reid’s death. They wanted to know if there was anything they could do for Natalie.

He sent the couple a 1992 report of a child who had been successfully treated with an osteoporosis drug while still in the womb, at Children’s Hospital of Philadelphia. It was an experimental treatment and would require close monitoring. Anne Van Wyk moved to Philadelphia to undergo treatment, and could be monitored over the course of the pregnancy.

In 2013, Natalie was born. Although she has hearing loss and will have to take a phosphorus supplement and calcium-boosting medicine for the rest of her life, she will be starting first grade in the fall near their new home in Fort Worth, Tex.

Six out of seven GACI babies have now survived in the last eight years, thanks to the prenatal treatment given at that hospital, according to Michael A. Levine, M.D., director of the hospital’s Center for Bone Health. Dr. Levine plans to publish the results in a medical journal, but in the meantime, the treatment’s existence and potential has spread through word-of-mouth and been shared on the GACI Global website. “We are glad to be that glimmer of hope in a dark space,” Anne Van Wyk said.Rare Diseases and Treatments.

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Paula M Naranjo

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