This article is part of the recurring Bench to Bedside Podcast feature, which presents stories of patients who have benefited from medical research. The podcast is part of the AAMC Research Means Hope campaign, which promotes the value of medical research and advocates for sustained, predictable federal funding for the National Institutes of Health.
Growing up, Noah Beery experienced almost constant nausea and vomiting, and his twin sister Alexis had shortness of breath and would progressively lose control of her body each day. The symptoms made life extremely difficult for them and for their parents, Retta and Joe Beery. “Anyplace we would go, we would have to constantly look for a bathroom for me to throw up in, just in case. That was really hard as a child,” Noah said.
Retta Beery did all she could, taking her children to various specialists and therapists and reviewing thousands of research articles, reports, and other materials in search of a cause for their symptoms. She tried to keep up the family’s hope for a cure or treatment.
“I started doing research when they were nine months old. I looked through every book that I could get my hands on; I went to a resource center at the Children’s Hospital in Phoenix, where I accessed everything that I could possibly read,” she said. “This was pre-Google, [before there was easy] Internet access. I would go there and use their computers, and I would send off to the World Research Foundation for [information] and papers that I would pore through, trying to find an answer for them, so that I could sincerely say, ‘We’re going to fight this, and we’re going to figure this out.’”
When the twins were nine months old, a doctor determined they were developmentally delayed, and they started physical, occupational, speech, and early intervention therapies. When they were two, an MRI of Noah’s brain led doctors to diagnose both of them with cerebral palsy.
Despite the diagnosis, Retta continued her research. In April 2002, when the twins were five, she found an article about a disorder with symptoms that were similar to what Alexis experienced.
“I found an article that spoke of a different disorder that mimics cerebral palsy, but it’s treatable with a medication. One of the common threads in this other disorder that separates it from cerebral palsy is how the patients function at a higher level in the morning, but become more debilitated as the day goes on. And that [described] Alexis,” she said.
The article explained the work of John K. Fink, MD, director of the Neurogenetic Disorders Program at the University of Michigan Medical School, who had been conducting research into dopa-responsive dystonia.
After the Beerys met with Fink and consulted with their neurologist, the children began taking the drug aldopa, and their symptoms stopped.
“I had seen a number of individuals with dopa-responsive dystonia. It’s hard to express just how powerful it is when you have a person with the inability to walk or other additional neurological problems. And then they’re treated and literally the next day—for many individuals, not all individuals—there is a dramatic benefit; people are literally walking out of their wheelchairs. I can’t understate just how dramatic it is in their lives, and [for me], as a physician,” Fink said. “[Retta] came across that article and called me up. It was really a testimony to her persistence and the care of her children that led to this diagnosis.”
Six years later, after the family had moved to San Diego, Alexis’s symptoms came back.
“I [thought], ‘We already found all the answers. So why am I now struggling with this horrible breathing issue, years after we already found all the answers?’”
The following year was filled with emergency medical services and trips to the hospital as Alexis battled with respiratory issues. Then, after hearing a speech from digital medicine researcher Eric J. Topol, MD, director of the Scripps Translational Science Institute, on the advancements of genomic testing, the Beerys took Noah and Alexis to the Human Genome Sequencing Center at Baylor College of Medicine and had their whole genomes sequenced.
The team at Baylor found that both Joe’s mother and Retta’s mother had passed on a gene to their offspring. When Alexis and Noah, in turn, inherited those genes, the children developed an extremely rare form of dopa-responsive dystonia that required serotonin for treatment, in addition to the aldopa. Alexis rebounded quickly after she began taking the new medication.
Importance of medical research
The Beerys acknowledge the important role of medical research in finding the correct diagnosis for Noah and Alexis.
“For every dollar that we spend on medical research, we will have so much more benefit from that and save so much more money in the future,” Retta said. “Medical research is improving not only in the area of finding answers and cures, but also in improving the quality of lives for so many people. And the struggles with disease that people like Noah and Alexis are dealing with can be changed through medical research and through supporting the medical research.”
Alexis now urges other children and young adults battling life-altering diseases to stay strong. “Don’t let go of hope.... Know that you are loved and know that people are working so hard to figure out your condition and to figure out solutions,” she said.
Fink added his thoughts on the importance of research saying that early detection and treatment of, and even cures for, life-altering diseases are possible. For these goals to be met, Fink emphasizes the need for sustained NIH funding to support medical research.