Tonya Harvey choked back sobs while talking about her son Kyler's ordeal. She truly did her best, trying not to cry as she stood before a legislative panel at the Statehouse in February, but even when she introduced Kyler, her smile was framed by tears.
"This is Kyler. He just turned 2-years-old," said Tonya on Feb. 24. "I'm sorry. I'm going to do my best not to cry. I brought him here today to introduce you to Kyler, because he looks normal. But I also need you to put a face to rare disease."
Boise Weekly first met Kyler at the Statehouse in late 2016, months before his February appearance in front of the Idaho House Health and Welfare Committee. Upon on our introduction, Tonya explained her son had been diagnosed with Glucose Transporter Type 1 Deficiency Syndrome aka Glut 1. In layperson's terms, Kyler lacks an enzyme that allows glucose (simple sugar) to cross the blood/brain barrier, thus starving the brain. It wreaks havoc on brain development and triggers epileptic seizures. Given that 85 percent of the brain's development occurs within the first three years of life, a proper diagnosis of Glut 1 and subsequent treatment is critical. Unfortunately, Kyler's diagnosis wouldn't come until after what Tonya said were endless visits to more than a dozen different doctors.
"All of my children had been born healthy," said Tonya. Her teenage daughter Kortney reached over and took Kyler as Tonya chronicled the toddler's medical history. "But within the first week after his birth, we were in a doctor's office. It started with Kyler losing weight; then it was breathing issues, then it was..."
Tonya paused and took a breath as she told yet another stranger about her son's journey from doctor to doctor to doctor.
"His brain is starved. He can't talk. He can't walk. I know he looks normal..." said Tonya as Kyler, wearing a "Captain Adorable" shirt, looked at her. "There are over 30 million Americans struggling with a rare disease, half of them children. About 30 percent of them won't live to the age of 5."
Kyler's story may be less about his specific diagnosis and more about how many Idaho families are burdened by a rare disease. The Gem State offers few, if any, solutions to those diagnoses and, as a result, an untold number of patients—children in particular—remain on long waiting lists to see a small number of specialists. Kyler may be the best example to date of Idaho's extreme shortage of specialists, the increasing number of Medicaid dollars leaving Idaho to pay for out-of-state care and, above all, the isolation but also tenacity of parents who won't take "no" for an answer.
"I would go to another doctor and another one and another one. Kyler was first hospitalized when he was 5 weeks old, the first of five hospital admissions. He's undergone three major surgeries, the first for laryngomalacia," said Tonya, referring to a congenital softening of tissues in the larynx. "Then it was his gastrointestinal system, then it was infant torticollis, then it was severe hypotonia. Every month it was a different diagnosis. I kept hearing, 'He'll catch up to this.' I can't tell you how many times I've gotten the 'let's wait and see' approach."
The Nine-Month Wait List
Tonya Harvey already had enough drama in her life before Kyler was born. In her early 30s she suffered a minor heart attack, prompting her to reevaluate her priorities. With encouragement from her children, she went back to school, received an associate's degree in medical assisting and began working in research clinics, most recently at Advanced Clinical Research in Meridian. After Kyler was born in February 2015, she said her ACR colleagues were "amazing" in accommodating Kyler's medical emergencies.
"I was referred to ear, nose and throat specialists, but the wait lists were months long. I was referred to the genetics and metabolic clinic here in Boise in August of 2015. I received a phone call from the clinic in January 2016 saying they could get us an appointment in June 2016. That would have been nine months."
Now, every month, Tonya flies Kyler to Seattle to see a pediatric neurologist at Seattle Children's Hospital.
"There really is no cure. Kyler is on something called a ketogenic diet. It's incredibly high in fat, very greasy," said Tonya, referring to a low-carbohydrate formula often used to help curb epilepsy because it tricks the brain to accept ketone bodies converted from fatty acids.
"But please, please. In spite of the fact that there have been so many negatives in my story, I'm not here to criticize all of the physicians we had to see, many of them who took the time to listen," said Tonya, beginning to cry again. After a pause and a deep breath, she continued. "This isn't about pointing out which medical professionals did something wrong. I'm so incredibly thankful for some very caring doctors, but it felt like I was beating my head up against a wall. My heart breaks for the moms who can't push as hard as I did. Can you imagine what it must be like for someone who doesn't even live near Boise, let alone an airport?"
As Tonya continued sharing Kyler's story, she flashed a smile at a man sitting on the other side of the room.
"Believe me, I'm a pretty private person," she said, pointing to the man, "but Dr. Quinn told me, 'There are some people you need to meet,' He's really the driving force of me talking to you."
'It's the Money'
Dr. James Quinn served as an orthopedic surgeon and emergency room physician before his latest role at Advanced Clinical Research, Tonya's employer, where he helps conduct clinical trials.
"Kyler's diagnosis makes my hair stand on end everything time I think about it," said Quinn. "It's stunning to me when I think of how many families are out there dealing with rare diseases, particularly involving children."
Quinn has a theory on why there's a shortage of health care specialists.
"Think back to the 1960s and early '70s, when we saw a breakthrough in heart surgeries, even transplants. It inspired a wave of Americans wanting to be cardiologists or heart surgeons. All of a sudden, it dropped down," said Quinn. "Think about it: Who are the people who need specialized care the most? Older people on Medicare and children on Medicaid. Quite simply, the financial rewards aren't there for a doctor to be a specialist. I'm trying not to be cynical, but if a doctor gets paid more for seeing 10 kids with a cold than a specialist gets paid by Medicare or Medicaid, they're going to think twice."
Idaho's specialist shortage is only part of the problem. Tonya said Kyler's diagnosis allows for Medicaid to pay for in-home nursing, but finding someone to provide the care is a challenge.
"We were on a waiting list for two months," said Tonya. "A nurse became available, but then Health and Welfare had to come conduct another evaluation. In the meantime, the nurse became unavailable. So, take a guess—we're on another waiting list. So, we're currently without a nurse."
Medicaid pays Gem State agencies $29 per hour for LPNs, compared to Oregon where Medicaid pays $35 and Washington where it pays $37. Training is another issue. Currently, the only LPN certification program in the Treasure Valley is at Carrington College.
When it comes to physicians, a 2013 analysis from the Idaho Department of Labor concluded Idaho ranked 50th in the nation for the number of primary care physicians per capita. A 2016 assessment conducted for the Idaho Department of Health and Welfare revealed Idaho was last in the nation for the number of pediatricians per capita.
As Quinn and Tonya spoke about Idaho's shortcomings, particularly in regard to caring for children with rare diseases, Rep. Melissa Wintrow (D-Boise) sat listening and taking copious notes.
"The shortage is a national problem, and it's magnified tenfold here in Idaho. We have shortages across the state because of our rural nature; shortages of physicians, shortages of nurses and certainly shortages of specialists," Wintrow said. "And it somehow always seems to come back to money, doesn't it? The good, the bad or the ugly. It's the money."
Wintrow turned to Tonya and, her voice softened, said, "Look, the Idaho Legislature spends a lot of time talking about money and policies, but I think we've got a pretty good opportunity here to connect us to the human side of this issue."
Tonya teared up, took a breath and said, "Believe me, I know about Idaho's shortages and the waiting lists. I made excuses for that. I know it's hard. Our hospitals try hard but if you're met with a brick wall as a patient—let me put it this way: What happens when the needs for your child aren't met? You end up seeking help elsewhere."
Wintrow again spoke softly to Tonya.
"Listen, you shouldn't be doing this alone," she said. "This is much bigger than all of us. I have an idea."
Taking It to the Legislature
Wintrow's idea resulted in House Concurrent Resolution No. 9, which she sponsored. She said it was time for lawmakers to "raise awareness and knowledge for diagnosing rare neurological diseases," reminding them Idaho has only eight pediatric neurologists, each with long waiting lists. When it came time for Wintrow to push for votes from the House Health and Welfare Committee, she invited Tonya to put a voice to the need.
"I want to introduce you to Kyler," said Tonya, holding the non-verbal Kyler, who looked around in wonder at the panel of legislators. "I want you to put a face to rare diseases in Idaho. Our most vulnerable boys and girls are on wait lists that can be as long as nine months."
Also testifying in favor of HCR 9 was Dr. Nicolas Camilo, pediatric hematologist at St. Luke's Mountain States Tumor Institute.
"I see a number of patients with rare disease and quite often, we have to send them out of state when we can't perform more sophisticated treatments," he said. "But I'm also here to say there is something we can do about this."
Camilo told the panel about Project ECHO, a model developed by the University of New Mexico and the Centers for Disease Control and Prevention to "break down the walls between specialty and primary care."
"It could link, for example, Seattle as a hub with spokes stretching out to other cities across the region, developing expertise to help treat rare diseases in those cities," said Camilo. "Honestly, I'm not sure how a state begins to attract more pediatric neurologists versus another state, but something like Project ECHO could begin to increase patient access to specialty care."
On March 14, the Idaho Senate approved HCR 9. And since the measure has won approval from the Idaho Senate, it now heads to the desk of Governor C.L. "Butch" Otter for his signature.
"Tonya Harvey and the doctors have done a great job telling their story, " Wintrow said.
Their story has people at the Statehouse talking about effecting real change. It's a kind of life-affirming dialogue rarely heard from both sides of the political aisle of the Idaho Legislature, who have an opportunity to be the voice for a 2-year-old boy who can't speak for himself.