Families are pioneers in the world of pediatric research

Rare diseases require years of research, and that's often not possible without families taking a risk.

In the world of pediatric research, the success stories of children overcoming rare diseases are what keep families hopeful.

However, the reality is that of the more than 7,000 rare pediatric diseases, only five percent of those have an FDA approved drug.
and one-in-three children with a rare disease won’t see their fifth birthday.

It’s a cruel reality, but the reason that one child *does* see their fifth birthday and the reason 350 of those rare diseases *do* have an FDA approved drug… is research.

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Each year, the national institute of health puts $1 out of every $10 in its research budget toward pediatric research. and recently opened in Kansas City, the Children’s Mercy Research Institute collects genomic data from kids with these rare and complex diseases to assist in finding new treatments and cures.

However, signing your child up to be part of a trial and any kind of research can be a very difficult decision for those families to make — especially when every choice and every second is that much more sacred.

That’s why Dr. Tom Curran, PhD, FRS, Executive Director for the Kansas City institute, stresses the importance of understanding and care when speaking with new families.

“The families that partner with us are true pioneers,” he tells us. “They’re taking a chance on new technologies, and we can’t say that we’ll find a target or a drug. Because that can actually be pretty rare. So when we approach families we make it clear that we are looking for answers, but we can’t promise answers and if we find an answer it may end up not effecting the therapy. So we want the families to know that they are real partners in discovery and that they are helping us treat future generations of children. Even if they themselves don’t directly benefit.”

The genomic testing being done at the institute has played a critical role in both the diagnosis and recovery of many kids already. The goal is to acquire genomic information from as many as 30,000 children with rare or complex diseases. By doing so, they’ll be able to create a database of close to 100,000 genomes.

This coming Sunday is Rare Disease Day, and not only are the majority of them genetic, but 70% of genetic rare diseases actually begin in childhood.

One of many reasons why pediatric research has the ability to make such a difference, and why these children and their families are pioneers who deserve all the credit in the world.