What to Do If Your Child Is Diagnosed With a Rare Disease

Lisa Esposito

Parents often struggle to get the right diagnosis for a child with a rare disease. But identifying a child's condition is only the beginning of a family's journey.

Finding specialists who understand the condition and learning enough to make informed treatment decisions -- all the while taking care of your sick child -- is more than a full-time job. Most agonizing of all is that the majority of rare diseases don't even have a definitive treatment. Meanwhile, even as some diseases only affect a small number of people, collectively tens of millions of Americans suffer from a rare disease.

In the U.S., a condition is considered a rare disease if it affects fewer than 200,000 people nationwide. at any given time. "The reality is that for the 7,000-plus rare diseases that are identified, the populations are really much smaller, with some as few as 200 patients worldwide," says Monique Molloy, executive director for research administration in the Gene Therapy Program at the Orphan Disease Center at Penn Medicine.

The term "rare disease" is a bit misleading, notes Dr. Marshall Summar, director of the Rare Disease Institute and division chief of genetics and metabolism at Children's National Hospital in the District of Columbia. "When you say 'rare,' most people eventually tune out and think: Well, I don't have to worry about that," he says. But overall, when you look at all rare diseases as a group, he adds, they may affect as much as 8% to 10% of the population.

Choosing to try an investigational drug that might help your child is difficult. Even harder is when experimental options aren't available at all for a recently discovered disease that maybe only a handful of people have worldwide.

To know how to move forward, it's important to consider advice from clinicians who treat rare diseases and heed lessons from parents of children who have uncommon conditions.

Born With a Rare Disease

Liam Ferguson is 5 -- and a half -- years old. At first, Meghann Ferguson, his mother, says he's 5, but then she quickly corrects herself. After all, every month is hard won.

Liam was born with end-stage liver failure. "Right at his 24-hour checkup, the doctors realized something was wrong," Meghann says, noting he was severely jaundiced and his liver and spleen were enlarged. "So we spent about three weeks in neonatal intensive care while they ran a battery of tests to try and figure out why his liver wasn't working."

Clinicians took genetic material from Liam and his parents for testing. Four months later, the results came back: Liam had Niemann-Pick disease type C1. With an estimated 500 cases worldwide, this is a genetic disorder that children are born with, according to the National Niemann-Pick Disease Foundation.

Niemann-Pick C is a progressive, degenerative neurologic condition that currently has no cure. It can eventually lead to deterioration in memory and the normal ability to think and make decisions. The disease often causes damage to the liver, spleen or lungs. It's called Niemann-Pick C to differentiate it from two other forms of the disease. In this type, patients are not able to properly break down cholesterol or other fats within the body's cells.

Compared to some families dealing with a rare childhood disease, the Fergusons received Liam's diagnosis in a relatively short time period. In other cases, families and patients embark on a what's described as diagnostic odyssey, where it can take months or even years to find out which disease is really involved.

[See: 5 Rare Diseases You've Never Heard Of (Until Now).]

A Lack of Treatment

Rare diseases are often referred to as orphan diseases. "That's because the pharmaceutical industry, for many years, did not pay attention to them since the patient population is so small," Molloy explains. "There has been a shift in recent years, whereby there is currently broad biotech and pharma interest in rare diseases."

Disease-specific and patient advocacy groups have been calling for stepped-up research opportunities and funding, and the Food and Drug Administration has adapted some clinical trial requirements in recognition that fewer participants may be available than with other conditions.

Oftentimes, people with rare diseases only have access to treatment for symptoms and complications resulting from the condition, while there may not be any existing therapy aimed at curing or improving the condition itself. "We believe, in the Orphan Disease Center, that no population is too small to deserve research toward the development of a therapeutic treatment," Molloy says. "Everybody deserves hope."

Such research can't come soon enough for many who have an uncommon condition but no defined treatment.

Even when including treatments that aren't necessarily disease-specific, but that would work for particular rare disease, Summar says, only about 10% of rare disorders have "a true, honest-to-goodness therapy."

Grueling Complications

At 7 months old, Liam needed a liver transplant. "The disease had just destroyed the liver so much that it could not repair itself," Meghann says. Fortunately, Nicholas Ferguson, Liam's father, had a compatible blood type and was a match. Nicholas became a living donor, giving a portion of his liver to his son.

After about two years during which Liam endured multiple fevers and hospitalizations, and had a follow-up surgical procedure to treat liver-related side effects, his post-transplant condition seemed to stabilize. Then, after a period where his health was relatively stable, fever and high levels of bilirubin in Liam's blood -- a sign of liver problems -- prompted a liver biopsy on Christmas morning in 2019.

Expertise Gap

"There's a limited pool of people who work in the rare disease area," Summar says. So first off, it can take a significant amount of times, sometimes as much as a year, to just find and schedule to see a clinician who treats the disorder, he says.

Leveraging digital medicine and virtual consultations can give families greater access to specialists, and help shorten the diagnostic journey, Summar says. Newborn screening is also expanding to test for more conditions.

DNA technology is also helping. "We've started to expand the use of next-generation sequencing," Summar says. "We've shaved some time off the diagnostic odyssey." That's because instead of only being able to test one disease or gene at a time, it's now possible test a large number of genes and even all of them at once, he says, "which can significantly shorten the process."

The pace of progress in genetic science and diagnosis is hard to keep up with in terms of treatment. "We can diagnose about 8,000 different rare diseases now," Summar says. "We actually add about five to six new ones a week that we can start to tie to a physical condition. It's not that these are new diseases -- it's just that we didn't know what they were before."

[See: 9 Things You Didn't Know About Sickle Cell Disease.]

Experimental Treatment

Today, Liam takes an oral medication called Zavesca to help slow the progression of his Niemann-Pick disease. He also receives cyclodextrin, an experimental medication that's injected into his spinal column.

After almost a year of having to travel to Chicago once every two weeks for the experimental treatment at Rush University Hospital, Liam has now started receiving treatment much closer to home, at Children's National Hospital.

If you learn that your child has a rare disease, experts recommending doing the following:

-- Tap into rare disease resources. The National Organization for Rare Disorders is a nonprofit dedicated to helping individuals with rare disease. It also serves as an umbrella organization for advocacy groups around specific diseases. "You'd be surprised at the level of sophistication of many of the patient advocacy groups," says Summar, who is chairman of the board of directors at NORD. "They know very much what's going on in their field." (See the rare diseases resources list below.)

-- Seek clinical experts. Locate doctors and a medical center with experience treating kids with the rare disease your child has. That could be a ertiary care center, where higher-level, specialized care is provided. Or your child may benefit from quaternary care, which involves uncommon, extremely specialized and experimental treatments.

-- Collaborate with your treatment team. As a patient or family member with firsthand experience of the condition, you have valuable information to share. "It's funny: For a lot of our diseases, our patients are the world's experts," Summar says. "Because, literally, they know more about (their disease) than anyone else."

-- Get guidance on experimental treatment. By the time most families connect with the Orphan Disease Center at Penn Medicine, they have an accurate diagnosis and are trying to figure out what to do next. "We focus on research and trying to help patients, foundations and orphan disease groups identify a research agenda -- a path," Molloy says. "Many of these diseases -- 95% of rare diseases -- have no FDA-approved products. So (patients and families) are often left trying to deal with and treat symptoms." What they really want to know is how to treat the condition itself.

-- Connect with peers. It's essential to connect to others in your situation. You can share mutual experiences via online patient forums through NORD or disease-specific groups. Eventually, you could make face-to-face connections, perhaps through an international event like the Million Dollar Bike Ride hosted by the Orphan Disease Center. "People will come and say: Before today, we never met another person with our rare disease," Molloy says. "It's really powerful when they meet, in person, for the first time. It's like: Wow, another parent who understands what we've been going through."

[See: 12 Medical Emergencies You Need to Address Right Away.]

No Treatment -- Now What?

The reality is that for many rare diseases, there may be little or no research in progress. The Orphan Disease Center's Jump Start program is dedicated to identifying the gaps in disease research and the research tools needed, and then establishing a research agenda for the specific condition.

Funding is a major challenge with rare diseases, and families often take the initiative with events such as bake sales and golf outings. "Many families do fundraising and then want to know: Well, what should we do with the money?" Molloy says. "We try to identify viable options of scientists who would or could be working in their space."

In the absence of an established treatment approved by the FDA, patients enroll in clinical trials for access to experimental drugs. Locating and gaining access to appropriate clinical studies is a challenge -- if any relevant studies even exist.

The FDA has several rare disease drug development programs in place. Even so, creating a potential therapy for a rare disease is a complex, time-consuming process and costly undertaking. Phases including basic research, drug discovery, preclinical testing, clinical testing, regulatory review and treatment approval and more can add up to many years.

Cause for Hope

Hope is on the upswing. "This is probably going to go down as the golden age for families with rare diseases, because of all the new options coming along, all the discovery, all the new understanding," Summar says.

Meghann Ferguson, for one, sees cause for optimism and signs of progress. Liam is now able to accomplish developmental milestones that he once struggled with, rather than having his abilities gradually deteriorate, which unfortunately has been the typical course of this disease.

"We're really hopeful," Meghann says. "There are more options available for the children now than there were even 10 years ago. I think we're really moving in a positive direction."

She and her husband believe Liam will continue to make progress despite his condition. "When we first got this diagnosis, the timeline they gave us was that they did not anticipate that he would live past 10 years old," Meghann says. "But we're hopeful that current and new drug therapies will help him surpass these expectations."

Liam isn't defined by his disease, his mother emphasizes: "He's an awesome kid with an infectious spirit."

Rare Disease Resources

Families -- and clinicians -- dealing with rare diseases have places to turn:

EveryLife Foundation for Rare Disease. This nonprofit organization focuses on public policy to advance rare disease research.

Genetic and Rare Diseases Information Center. GARD, a program of the National Center for Advancing Translational Sciences, funded by the National Institutes of Health, provides consumer-friendly information.

Global Genes. Addressing both rare and genetic conditions, this nonprofit group offers patient advocacy, education, resources and support.

National Organization for Rare Disorders. As an umbrella organization, NORD maintains more than 7,000 web pages for individual rare conditions.

Orphan Disease Center. Experts connect the dots for patients and researchers in the rare disease community.