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Wendy Fry had just celebrated her first Christmas with her first child, 8-month-old Penny, when she woke the next day to another first: Her daughter having her first seizure.
“I have never felt more panicked in my life,” she says. “When we told the triage team in the ER she had a 12- to 15-minute seizure, the look on their faces told me something was seriously wrong.” A week and a half later after an hour-long seizure, Penny was airlifted to Children’s Hospital of Pennsylvania (CHOP).
After extensive testing, Penny was diagnosed with Dravet syndrome, a serious, genetic form of epilepsy.
“When she was 11 months old, we received the results that she had a mutation of the SCN1A gene, which is associated with most cases of Dravet syndrome,” Fry says. The first neurologist they saw dismissed some of Penny’s symptoms as “weird baby things,” but they soon found another who officially diagnosed her at 17 months old. “It was confirmed in subsequent hospitalizations and video EEG testing that she was, in fact, having hundreds or even thousands of small seizures every day,” Fry says.
Just one in nearly 16,000 children are born with Dravet syndrome, yet Penny and her family are not alone.
“There are over 7,000 rare diseases affecting 25 to 30 million Americans,” says Liz Varga, director of Clinical Genomics Research and Development in the Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children’s Hospital in Columbus, Ohio. That’s one in 10 people. “When grouped together, rare diseases are not rare at all.”
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What Is a Rare Disease?
“Rare disorders are defined as less than 200,000 affected patients in the U.S.,” says Dr. Jerry Vockley, Chief of Medical Genetics and Director of the Center for Rare Disease Therapy at UPMC Children’s Hospital of Pittsburgh. They’re also called “orphan” diseases, because of the lack of care and attention historically paid to them. Unfortunately, more than half of rare diseases occur in children.
Despite their vast differences, these diseases have some things in common: Difficulty identifying the diagnosis, lack of specialists familiar with the disease and few treatments available. But the news isn’t all bad, as researchers are making new advances every day. Still, for parents of a child with a rare disease, those advancements can’t come soon enough. 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.
So what can families of a child with a rare disease do right now? Here are some steps to take.
Rare Diseases: Numbers and Statistics
— There are more than 7,000 rare diseases.
— In the U.S., rare diseases are defined as less than 200,000 patients.
— Rare diseases collectively affect 25 to 30 million Americans, or one in 10.
— Almost two-thirds of rare diseases have a genetic cause.
— 70% of rare diseases start in childhood.
— Incidence of rare diseases can range from one in 5,000 to less than one in 1,000,000.
— Rare diseases affect 2% to 3% of babies worldwide.
— 95% of rare diseases have no FDA-approved treatment.
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Tips for Parents of a Child With a Rare Disease
1: Know you’re not alone.
Although each child’s individual condition is rare, many families are dealing with diseases that aren’t as obscure as you think. A “most common rare diseases list” sounds like a contradiction in terms — how can a disease be both common and rare? — and with 7,000 to choose from yet limited data for each, researchers can’t easily put them in order. For example, it’s hard to know how rare is mixed connective tissue disease, because recent research indicates its exact incidence is unknown.
But measured by how well-known they are, the list we came up with of the top 10 rare diseases would probably surprise you, because you’ve probably heard of many of them:
— Spina bifida
— Cystic fibrosis
— Muscular dystrophy
— Tay-Sachs syndrome
— Tourette’s syndrome
— Turner syndrome
— Hemophilia
— Phenylketonuria
— Mixed connective tissue disease
2: Realize it’s not your fault.
Parents didn’t do anything to cause their child’s disease. Although environmental factors, infections or complications during pregnancy can be factors, genetic causes account for around 80% of rare diseases.
“Many rare diseases are genetic and often result from mutations in a single gene,” Varga says.
According to Vockley, these mutations, or mistakes, in one or more genes affect the function of the protein or RNA that they encode, leading to symptoms. “These disorders range in incidence from one in 5,000 to less than one in a 1,000,000,” he says. “Although individually rare, in aggregate, they affect 2% to 3% of all babies born in the U.S. and worldwide.”
They can also show up in adults, but “many rare diseases affect children, as many genes are necessary for normal growth and development,” Vockley says.
3: Look beyond your regular doctor.
Your primary care doctor or pediatrician may never have seen a particular rare disease before.
“Most physicians are taught about common diseases in medical school, as this is the bread and butter of most primary care physicians,” Vockley says. “Historically, many rare diseases did not have tests to identify them, and physicians needed to recognize them due to specific symptoms or lab findings to make a diagnosis. Modern DNA-based testing has made diagnosis more straightforward, but interpreting the tests requires knowledge and skills outside most physicians’ training and expertise.”
Plus, rare diseases sometimes mimic more common ones and have non-specific symptoms, Varga says. “It may take time for medical providers to connect the dots,” she says. Because of this, many patients and their families go on a “diagnostic odyssey” to simply identify the disease that’s causing symptoms. “On average, it takes around seven years to diagnose a rare disease.”
4. Consult a geneticist.
Finding the right specialist (and then waiting for an appointment) can be difficult, so Vockley suggests first visiting a one-stop-shop for rare diseases: a geneticist.
“Some physicians become interested in rare diseases at some point in their training and elect to study them more in depth. Geneticists specialize in the diagnosis and management of these diseases,” he says. “Asking for a referral to a geneticist is always a good starting point. They can coordinate an evaluation that could include referrals to additional physicians and specific testing. They will then meet with the family to review results and suggest next steps for treatment.”
Parents are no doubt eager to get their child in to see a specialist as soon as possible.
“However, geneticists are the primary specialty with a focus solely on rare disorders,” Vockley says. “Working with a geneticist to establish a correct diagnosis and then reviewing treatment options is the first step for any patient and parent.”
Once you have a diagnosis, you can find a specialist in the area of the body the disease affects, or a “multidisciplinary team,” Varga says. In addition to a geneticist or a genetic counselor, this could include neurologists, metabolic specialists, cardiologists and more. Although it may be necessary to travel to visit a top specialist, today many doctors offer virtual consultations and telehealth follow-ups.
[Read: How to Find the Best Neurologist.]
5: Consider treatment options.
Up to 95%t of rare diseases have no FDA-approved treatment available.
When Fry’s daughter was diagnosed in 2016, “there were no FDA-approved treatments for Dravet syndrome, and we had already failed two common first-line epilepsy medications,” she says. Her situation is not unique.
“There are thousands of rare diseases, and the development of specific drugs for each is not economically feasible in our healthcare system,” Vockley says. “Treatments tend to be developed for the more common of rare diseases, ones that can be identified readily and diagnosed in time to make a difference with treatment.” Sometimes this is through newborn screening tests, he says, which have expanded in recent years.
However, “the FDA has special rules in place to encourage development of drugs for rare diseases,” Vockley says.
In 1983, the Orphan Drug Act was created to incentivize drug companies to research medications for rare diseases with tax credits, market exclusivity and grants for funding, Varga says. Since the law was enacted, the FDA has approved hundreds of drugs. But it’s still not enough. The problem with research is not solely an economic issue: Establishing a big enough pool of participants with a specific rare disease to even conduct a study can be a challenge.
If there aren’t treatments to address the actual disease, symptoms are treated instead. Fry’s daughter went on a special ketogenic diet, which has been proven to reduce seizures, at 18 months old.
“Though we saw significant improvement from this treatment, it didn’t stop all of her seizures,” Fry says. “She stayed on that diet for four years as we cycled through medications trying to get control before we decided to come off the diet. Since then she’s had so many ups and downs.”
6: Connect with advocacy groups.
It’s frustrating for families to not have a true treatment, let alone a cure, but parents aren’t powerless. “If no specific treatment is available, patients and parents can interact with disease advocacy groups to help reduce or remove barriers to perform the research necessary to develop a treatment, as well as help fundraise for research,” Vockley says.
Today, patients and families from around the world can find each other online, as well as groups that provide advocacy and support.
“Nonprofit organizations can often assist with navigating treatment options,” Varga says.
This was extremely helpful for Fry. “Initially we found support through the Epilepsy Foundation of Eastern Pennsylvania,” Fry says. “Their parent support groups were an early lifeline for us.”
Then, she joined an even more targeted advocacy group, the disease-specific Dravet Syndrome Foundation. “The impact this organization has had is astounding. Since Penny was born in 2015, three different treatments have been approved and several more are in the pipeline,” she says. “I’m prepping for a fundraising walk this weekend to help raise more money for research. We still have a long way to go, but there is so much hope for the future.”
7: Look into clinical trials.
Fry also traveled across the country so Penny could join a clinical trial, which tests out drugs for FDA approval.
“For many rare diseases, clinical trials may be the only way to access cutting-edge treatments,” Varga says. “Participating in trials offers access to experimental therapies and helps advance scientific understanding of the disease.”
It may seem risky for children, but a trial may be the best shot at improving their health and quality of life.
“If no approved treatment exists, a clinical trial, if available, will be the only option for one,” Vockley says. “It is always worth considering, as doing so doesn’t commit to participating. Reviewing the trial with a trusted care provider as well as the clinical trial team will help establish eligibility and provide information to allow an informed decision about participating.”
8: Make a plan to cover healthcare costs.
Rare diseases don’t just take an emotional toll, they take a financial toll as well. Families of these patients incur much higher healthcare costs than an average family, plus lost income, travel expenses and more.
For Fry, “we’ve become a single income family because this nonstop care in addition to constant appointments requires at least one full-time parent ‘on call,'” she says. “Dravet has restructured everything we planned for our lives and our futures.”
Even exciting new tests and treatments can come with a downside: their cost. Parents often need to battle with their insurance company.
“Reimbursement is often a challenge since health insurers may not cover genetic testing under their plan,” Varga says. Resources from your advocacy group can help in your fight, and also connect you with government or charity assistance. Setting up a GoFundMe is another option: When friends and family don’t know how to help, this is one thing they can do.
9: Keep up to date on new technologies.
Genome sequencing
Patients are reaping the benefits of new technologies to diagnose and treat rare diseases. For example, whole genome sequencing, once a global research project, is now a routine clinical test for identifying mutations.
“Since many rare diseases have a genetic basis, increased access to broad genetic sequencing can help patients get a diagnosis faster — in fact, with rapid genome sequencing, a diagnosis can be made in a matter of days,” Varga says.
Precision medicine
A new approach called precision medicine tailors treatments based on the individual’s genetic makeup, leading to more personalized and effective interventions, Varga says. This is one of the “emerging fields that offer new hope for previously untreatable conditions,” she says.
Gene therapy
Gene therapy can literally fix faulty genes.
“There have been breakthroughs in gene therapy for certain rare conditions like hemophilia A and B, Duchenne Muscular Dystrophy and Spinal Muscular Atrophy (SMA),” Varga says. “CRISPR and other gene-editing technologies are being explored for rare genetic disorders, and RNA-based therapies are being developed for conditions previously considered untreatable.”
10: Don’t lose hope.
Even though your child’s situation may seem bleak right now, at this pace of discovery things may turn around quickly.
“The field of genetics reinvents itself every five years due to advances in technology and knowledge,” Vockley says. Today’s new treatments “will almost certainly continue to be superseded by new advances at a rapid pace,” he says. “The best option for families and patients is to establish a care relationship with a geneticist and review options for treatment frequently, typically on a yearly basis.”
As for Penny, she’s now a happy third-grader who dances and sings everywhere she goes, Fry says. “Her life is not average or typical, but we take advantage of the good times. We are so proud of her for how hard she works and how much joy she spreads to everyone. We do our best to focus on the joy, keep working towards a cure, and take this one day, sometimes one minute, at a time.”
Rare Disease Resources
— National Organization for Rare Disorders maintains a rare disease database, plus resources, advocacy and support for families.
— EveryLife Foundation for Rare Disease focuses on public policy to advance rare disease research.
— Genetic and Rare Diseases Information Center (GARD) is funded by the National Institutes of Health.
— Global Genes offers patient advocacy, education, resources and support.
— Orpha.net provides global databases for rare diseases, expert centers, available drugs, clinical trials and more.
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What to Do If Your Child Is Diagnosed With a Rare Disease originally appeared on usnews.com
Update 10/07/24: This story was published at an earlier date and has been updated with new information.
Update 10/10/24: An earlier version of this story misstated the number of children born with Dravet syndrome.
