Kansas City,
08:28 AM

Rare Diseases: More Common Than You Think

Dr. Sarah Soden

Dr. Sarah Soden, Director, Center for Pediatric Genomic Medicine

Rare diseases may be “rare,” but collectively they’re quite common and affect up to 30 million Americans, which is nearly one in 10 people. Half of those are children.

To really grasp how many people are impacted by rare disease, picture this. The National Organization for Rare Disorders says if everyone with a rare disease held hands, they would circle the globe almost one-and-a-half times. When you start to talk to colleagues, friends and neighbors, you begin to realize just how many families are dealing with rare diseases.

What are Rare Diseases?

Any disorder, illness or condition that affects fewer than 200,000 people is considered a rare disease.

It's difficult to put a finger on how many distinct rare disorders exist because our understanding of them has changed so rapidly in recent years. This is especially true for disorders caused by mutations in a single gene. Nearly 7000 inherited disorders have been recognized in humans. When I first joined the Genome Center at Children’s Mercy in 2011, the cause was only known for about 2,500 of these. That number has since doubled to over 5000, which is great news, but our work is not done. Many families are left without answers. And even among the rare disorders whose causes are known, treatment options are limited.

Rare Disease Diagnosis

For patients whose conditions do have effective treatments, early diagnosis can be transformative, even lifesaving. But, the power of early and accurate diagnosis is bigger than that. It may lead to an awareness of other tests that are needed to catch the effect on other organs such as the heart or kidney early. Or steer us away from treatments that may be ineffective, even harmful.

Identifying the cause of a rare disorder allows specific genetic counseling to occur so families can begin to understand whether or not other relatives might be at risk. And of course, for many, getting an answer to "why" helps as they adapt to the challenges of having a rare disease in their family.

In my clinic as a Developmental Pediatrician I see this first hand. When I started 15 years ago, it was unusual for our families to come in knowing the cause of their child's rare disorder. Now we see it every day.

Genetic Testing and Research

Research is extremely important when it comes to studying rare diseases, because it leads to new breakthroughs in diagnosis and treatments. Genomic sequencing technologies are continually becoming less expensive and more widely available across the country. Technological advances will continue to increase the rate of diagnosis through additional discovery and better detection. For example, when we sequence a genome, we do it chunks (called reads) and line them up together. However, the technology is improving and the lengths of these reads is growing which allows us to detect genetic changes that used to allude us.

Sometimes what we learn from studying rare diseases teaches us about the overall human biology, which can be applied more broadly across medicine. One of the exciting directions the Genome Center Children’s Mercy, is taking is a move toward a broader “integrated genomics” approach to help us understand what’s going on in complex diseases. Integrated genomics combines numerous next-generation sequencing methods to understand the effect of a disease on the body and allows deeper investigation into the relationship between genes, environment and disease.

Advice for Parents

There's not a one size fits all approach to dealing with a diagnosis.

Find a support system. Many families enjoy the opportunity to connect with other families whether or not they have same disorder, because the struggles are the same whether it’s navigating education systems, sub-specialty clinics or the change in the parenting dynamics. All these things are common across many conditions, even if you’re not battling the same rare disease. A really good organization here in Kansas City is The RareKC Project. Another good source of information is the National Organization for Rare Diseases.

Be organized. Having a rare disease usually means you’ll be dealing with complicated health care. Make sure you have a digital file (or notebook) with all your child’s medical history. This way you’re prepared for all your appointments and you’ll feel a sense of control.

Feel empowered. You’re the expert of your child. Let your doctor or school district know if there’s a better way to interact with you. If it doesn’t feel right, speak up. Your voice is not just important, it is perhaps the most crucial tool your family has.


Learn more about Pediatric Genomic Medicine at Children’s Mercy.

Learn more about Children’s Research Institute at Children’s Mercy.

The Children’s Mercy Center for Pediatric Genomic Medicine is offering a four-day CME/CEU program for researchers and healthcare professionals interested in translational genomics. Click here for event dates and registration.