WRIGHT-PATTERSON AIR FORCE BASE, Ohio – For the Anderson family, protecting their 8-year-old son, Reeve, has proven to be the fight of his lifetime.
Reeve, born with Down syndrome, lived as a normal kid until he started to develop curious symptoms. His parents, Shana and Jason, were completely surprised and knew they weren’t normal.
“Right after he turned 4, he developed a very high fever that lasted a few days and started getting random nosebleeds all the time,” Shana said. “On the fifth day of the high fever, Reeve couldn’t stand or walk, and we were unaware of what was going on.”
Once Reeve was immobile, his parents rushed him to the emergency room at Dayton Children’s Hospital. At the time, doctors couldn’t find anything wrong and summed up Reeve’s inability to walk or stand to inflammation.
Reeve started to walk again after his hospital visit but soon displayed other medical issues such as loss of muscle use, lack of energy and dental health.
Shana and Jason took Reeve to Dayton Children’s Hospital multiple times over a few weeks, but the doctors had no solution other than advising them to take Reeve to his pediatrician.
Knowing Reeve was going through this degenerative process with no simple solution caused stress and anxiety, the Andersons recalled, with only hope that an answer would soon come.
“I was in total denial,” said Jason, now a colonel and faculty member at the Air Force Institute of Technology. “I wanted to be able to fix what was going on with Reeve, but I knew that I had to harness the energy to be protective and caring of him.
“Even with all of the issues that we’ve had, it didn’t stop us from continuing to find the necessary help for our son.”
Finding hope in a familiar place
The Andersons visited multiple community doctors to seek an explanation and diagnosis for Reeve, but they ran into an impasse. Doctors told them Reeve’s symptoms were due to his Down syndrome and they were just struggling to come to terms with his limitations.
Time after time, they were either provided with information that partially diagnosed Reeve’s symptoms without any connection to the others or told nothing could be done, with no next step.
“After many visits, we got a referral to see a doctor from Wright-Patterson Air Force Base, and thankfully, we were already familiar with who she was,” Shana said.
Dr. (Lt. Col.) Cassandra Burns, 88th Medical Group pediatric neurologist, first saw Reeve when he was a baby. At the time, Burns was examining him due to his speedy development as a child with Down syndrome.
“She didn’t know what it was at first, but what I appreciated about that initial appointment is that she spent about two hours with Reeve,” Shana said. “She listened to me and Jason, took a lot of notes, asked questions and started to put together a list of things that it could be.
“For once, we didn’t get sent away with an ‘I don’t know’ and ‘good luck.’”
Shana said Burns took the initiative to learn more about other possible solutions and showed she truly cared.
She scheduled multiple tests for Reeve, including a spinal tap, to diagnose the cause of his health decline in coordination with Dayton Children’s Hospital, Cincinnati Children’s Hospital Medical Center and Nationwide Children’s Hospital in Columbus.
After collaborating with other doctors and interpreting test results, Burns discovered Reeve’s symptoms were due to a rare condition called cerebral folate deficiency.
With this discovery, Burns determined that none of the local hospitals could treat Reeve’s condition. So, he was referred to one of the few medical facilities in the country that specializes in cerebral folate deficiency – Phoenix Children’s Hospital – where Dr. Richard Frye, Rossignol Medical Center director of research and neurologist, treated him.
“Cerebral folate deficiency is associated with poor transport of folate from the blood into the nervous system,” Frye said. “We are recognizing that this problem is associated with neurodevelopmental disorders such as autism spectrum disorder, psychiatric disorders such as depression and schizophrenia, and metabolic disorders such as mitochondrial disease and dysfunction. Thus, we are coming to understand that it might affect many more individuals than previously thought.”
A ‘wonderful’ recovery, ongoing battle
Once Reeve and his family arrived in Phoenix, doctors there also diagnosed him with mitochondrial dysfunction, which occurs when structures fail to produce enough energy for cells to function. There’s no cure, but physical therapy and medications can manage symptoms.
Frye understood the best way to help Reeve and find a lasting solution would be to analyze him over time.
“Reeve was enrolled in our clinical study and mitochondrial natural history studies,” he said. “These studies allow us to understand biomarkers of disease so we can diagnose disorders better and follow patients over time to help determine which treatments might be helpful for children with certain underlying conditions like cerebral folate and mitochondrial disorders.
“This approach to following patients over time in a standardized manner has led to the development of treatments in my research program, such as leucovorin, which treats cerebral folate deficiency and has led to federally funded clinical trials on this compound.”
Frye affirmed that once he was able to utilize data, samples and time from ongoing clinical care dedicated to Reeve, finding a solution was imminent.
“Our son went from being nonverbal, barely able to walk, not able to feed himself and suffering from excessive fatigue to now speaking, eating and running,” Shana said. “He has improved so much over the past year and is achieving things that we did not think would ever be possible. His recovery has impacted our whole family in wonderful ways.”
Although Reeve’s condition has bettered, the Andersons are still battling his condition every day with a number of medications. Jason says the medication is absolutely necessary for Reeve, but it’s only a temporary fix.
“I do have hope that we will be able to get a long-term solution that will work, and in that event, I do believe that we will get a bigger chunk of the old Reeve back,” he added.
Reeve has made leaps and bounds toward his recovery. He may not be the same kid as before, his parents say, but Shana and Jason are ecstatic to see Reeve embrace his childhood again.
They both believe if it wasn’t for the Air Force and Burns, Reeve would be in much-worse condition.
“Being able to see Reeve have an important part of his life taken away from him and then start to get it back meant everything to me,” Burns said. “This case has always been beyond my expertise, but I needed to ensure that Reeve’s health was in the hands of doctors more capable than I am.”
She still monitors Reeve’s progress and remains available to the Andersons for any help or advice they might need.
“When you are in the military and have access to military doctors and base hospitals and other Air Force resources, it’s a missing step that a lot of families don’t have and can’t appreciate,” Shana said. “We don’t know where Reeve would be without Dr. Burns and without this path she put us on that led us to these treatments he is getting. We hope that she knows how much of a blessing she is to us.”
Added Jason: “Had we not had Dr. Burns by our side, we have no doubt that the outcome of our story and the ultimate well-being of our son would have been very different. Dr. Burns is brilliant. She is so smart, methodical and caring. She has every characteristic that we would ever hope for in a medical provider.”