Personalized Health Care: Why it takes All of Us
Allie and Kelly Ranallo
By Kelly Ranallo, Founder/President, Turner Syndrome Global Alliance and Founder of RareKC
The National Institutes of Health recently launched the All of Us Research Program, a historic effort to gather data from one million (or more) people living in the United States. The goal is to accelerate research by using data from the program to learn more about how individual differences in lifestyle, environment and biological makeup can influence a person’s overall health. This tailored approach, which is commonly referred to as “precision medicine,” is key to preventing and treating diseases, and I’ve witnessed firsthand the impact it can have on a person.
My Daughter’s Story
In 2008, our oldest daughter Allie, who was eight years old at the time, was diagnosed with Turner Syndrome.
Turner Syndrome is a rare genetic condition that affects one in 2000 females, in which a female will lose part or all of her second “X” chromosome during fetal development. Symptoms include short stature, delayed puberty, infertility, heart defects and certain learning disabilities.
After the diagnosis, Allie underwent several surgeries and multiple rounds of anesthesia during a sixth month span. For unknown reasons, she didn’t respond well to the anesthesia and pain management wasn’t working. It seemed as if the over-the-counter medications worked better than the prescriptions meds. No one knew why this was the case, and her care providers (myself included) started to doubt her when she said the pain medications weren’t working.
Allie started hormone replacement therapy two years later. Once again, she complained of the horrible side effects from the medication. At this point, I knew we needed to do something since she would need treatment throughout her lifetime. That’s when we were referred to Children’s Mercy to undergo genetic testing to understand how Allie was metabolizing drugs.
Genetic Testing Changed Everything
What we found out changed everything. We learned Allie’s body does indeed metabolize drugs differently than most kids. You can only imagine how I felt as a mom after doubting her all those years. Armed with her genetic results, her medical team was able to adjust her medication and prescribe the correct dose that would work for her. It also enabled her doctors to make more informed decisions regarding other medications and empowered Allie to know when something wasn’t working, which was especially important when she went off to college in 2016.
We Are All Rare
Since Allie’s genetic results were strangely odd, we were asked to enroll in a research project that would some day help other children and families benefit from precision medicine. We jumped at the chance to give back and it quickly became apparent to me although Turner syndrome itself is a rare condition, we as humans are actually all rare. We each have a unique genetic makeup, which impacts our own health or that of our loved ones.
In fact, I wonder how many people have not responded to medication the way they should or why a child didn’t respond to the same treatment as another child. If we are all rare in our own genetic makeup than is “rare” actually common? It’s so common, and that’s why it takes All of Us to really understand and advance innovation in research with the hope of new treatments and cure for disease.
Commitment to Research
We are very fortunate here in Kansas City to have the commitment to bring a healthier future to our entire community. We are home to some of the top medical innovation in the country and although sometimes we are thought of as the “fly over” state, I would argue that we should be thought of the “fly to” state for medical treatment, research and innovation.
But it will certainly take All of Us to make that happen. Each one of us can choose to be ONE of the million people that will participate with research and make a difference not only for my daughter Allie, but also for you and your loved ones that may someday join us in this journey.
Learn more about the Children’s Research Institute at Children’s Mercy.
Learn more about Pediatric Genomic Medicine at Children’s Mercy.
Learn more about the Turner Syndrome Clinic at Children's Mercy.