Arica Svoboda, of Mountain Lake, says her oldest son’s medical needs introduced her to hospitals, but her youngest son’s even more complex condition make her feel like something of a nurse.

The two boys, Hendrix, 3, and Hayes, 18 months, have a super rare genetic mutation causing pulmonary arterial hypertension, or PH. Arica and their father, Dan Melheim, have spent months in hospitals and clinics becoming all too familiar with medical terms as they looked for the best course of treatment for the boys.

The medical journey brought them to Children’s Hospital Colorado’s Heart Institute, which has a team well versed in the condition in part due to its location in high altitude.

“They’re lifesavers, each and every one of them,” Arica said. “I would consider them family.”

Hendrix was about a month old when he first went to the Heart Institute. The couple had brought him to Sanford Health in Sioux Falls originally, where Hendrix’s pediatric cardiologist, Dr. Theresa Stamato, recommended they immediately take him to Colorado.

Over the course of a month, doctors there devised a treatment plan for him. It involved additional oxygen until he was about 2 years old, a medication pump similar to those used for people with diabetes from the time he was 9 months old to now, and more.

The little guy is doing well enough now to receive care closer to home in coordination with his Colorado team. Although he had a harrowing start to his life and the condition is progressive, he’s now a smiley 3-year-old who regularly makes his family — and himself — laugh.

Less clear than his treatment plan was how he developed the rare condition in the first place.

The biggest group of children with PH are former premature infants born before 30 weeks, said Dr. Ben Frank, pediatric cardiologist at the Heart Institute. The next biggest group gets it from genetics, about a one in a million risk.

Genetic testing on Hendrix showed he was one of fewer than 10 known people in the world with a rare type of genetic mutation causing PH. The results helped prepare the family for what ended up being in store for his little brother.

Arica was pregnant with Hayes when they received results from Hendrix’s genetic exome testing. After Hayes was born and struggled with breathing, he went to Colorado for treatment and testing and they found out he had the same genetic mutation.

The odds of both boys randomly having the mutation would be longer than one in a million, Frank said. There’s a second level to their bad luck, though. Each boy inherited both genes with mutations from their parents, about a one in 16 chance.

Hendrix and Hayes’ experiences with the condition started to diverge once Hayes got to Colorado. Unlike Hendrix, Hayes didn’t respond as well to similar treatment, requiring Frank and the care team to try a novel approach.

Hayes was only the second child in the world to receive a treatment previously reserved for adults. Because the medication, under the brand name Adempas, had been almost entirely used on adults, doctors took special care in determining the right dosage for Hayes.

There were also medicine interaction risks to consider. Someone receiving more standard medicines for PH likely can’t take Adempas, but the more standard medicines weren’t working on Hayes.

At this time Hayes was in the intensive care unit, contributing to the 315 days or so he’s spent in the hospital over his 18 months. He needed a significant amount of oxygen along with nitric oxide.

Within about three weeks, Frank said, the boy came off nitric oxide. The medication didn’t cure his PH, but it did mean he didn’t need constant hospital care and could be monitored closer to home.

“It’s the right medicine for the right patient,” Frank said. “Hayes is the right patient and he’s helping us be better at recognizing who the right patient is.”

While the Heart Institute specializes in PH in response to the high number of patients with it, some patients struggle in the altitude and are better served receiving treatment closer to sea level. Frank and the medical team coordinated with Children’s Hospital in Milwaukee to continue the treatment plan.

The Melheims were splitting months upon months of their time between Colorado and back home in Minnesota. Wisconsin isn’t a short drive from southern Minnesota by any means, but it does lessen the travel burden.

“They’ve moved mountains for their boys very effectively, but it would be hard to overestimate what the burden has been on them traveling from Minnesota to South Dakota and then South Dakota to Denver,” Frank said. “That’s what you do for your kids, and they’ve done it all with a smile on their faces.”

Arica said the family won’t ever forget the care they received in Colorado. Amid all the uncertainty surrounding a rare condition in a child, the family trusted the boys were in good hands.

“It meant the world knowing they were OK with them,” she said. “As a normal parent you have to find a good babysitter you can trust with them, and this was five times that.”

So much time in the hospital meant Dr. Frank was seeing some of the boy’s major milestones. He doesn’t take being there for those moments lightly, and said he was getting misty-eyed when told about how the family described him and his care team as family.

“It’s why we all do this,” he said. “Our team is two docs, a nurse practitioner and four nurses. Every one of us chose this field for the right reason, not just to help kids but help families.”

They want every family to feel like the Melheim boys and their parents did.

“It’s a tough disease I wouldn’t wish upon anyone,” he said. “But for those families who find themselves in this position, I always say if you’re worried, I want to be worried with you, and on the flip side, if you’re cheering, I want to be cheering with you.”

Looking forward, there’s both uncertainty and optimism about Hendrix’s and Hayes’ condition. Uncertainty stems from how rare their condition is, leaving all involved a thin playbook on what to expect.

Optimism stems from how far they’ve come in their young lives. Through it all, they manage to find the moments of joy that any child should experience.

“It’s a joy watching those two grow together now,” Arica said. “They understand each other’s pain.”

Ideally the two will keep growing and keep responding well to their treatments. No matter what comes, the family will go wherever it takes to help them, knowing they have a “family” of medical professionals supporting them.

Follow Brian Arola @BrianArola

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