Parents of patient with 2 rare diseases thankful for Sanford Health partnership

This paid piece is sponsored by Sanford Health.

Through their miracle child Eyeris Harbor, Keshia Whetsel and Joshua Harbor have learned to embrace uncertainty.

The two had a “normal” pregnancy and delivery with their first child — Eyeris’ older brother, Kamar Harbor.

The pregnancy with Eyeris “was also a normal pregnancy,” Whetsel said.

Normal pregnancy, ‘rare’ birth

The family calls Sioux Falls home. They didn’t think anything was out of the ordinary, or rare, with Eyeris before he was born.

“Nothing showed up, even with his pre-screening that they do. Nothing showed up or was abnormal,” Whetsel said.

Then came time to welcome Eyeris into the world.

“When he came out, he was not doing the best at all,” Whetsel said.

“He was gray. If you’ve never seen a gray baby, it’s something very scary,” Harbor said. “He wasn’t breathing very well, and he did not cry. He did not cry at all.”

The family stayed at Sanford Children’s Hospital an extra day. Eyeris’ beloved genetics doctor at Sanford, Dr. Rachel Li, did more tests. Everything came back normal.

So Eyeris went home.

“When we got home, we realized that he just would not cry. He wouldn’t wake to feed; we had to set alarms to feed him. He also had a very bent foot, several spots on him, his teeth and jaw protruded a little bit,” Harbor and Whetsel said.

“The final straw was we took him in for constipation because he didn’t have a dirty diaper for a long time. We were told he looked like a failure-to-thrive baby. He had even lost some weight from when he was born.”

Not one, but two rare diseases

Eyeris was hospitalized at Sanford Children’s Hospital, also known as “The Castle,” for a few weeks. During that time, he underwent a thorough genetic test, specifically a whole exome sequence, according to Li.

Those results showed the rare genetic disorder Prader-Willi syndrome.

“This disorder causes low muscle tone in babies, issues with failure to thrive initially and then developmental delay later on. When they reach age 2 to 3, they have really huge appetites and can get really obese,” Li  explained.

But that wasn’t the only rare disease Eyeris had.

The tests also showed Bloom syndrome, a cancer predisposition disorder.

Symptoms of Bloom syndrome include:

• Shorter than average height.
• Narrow face.
• Skin rash after sun exposure.

“He has two really rare disorders that are just completely by chance,” Li said.

“One in 10 million,” Harbor said.

Partnering with Sanford

One rare disease diagnosis can be overwhelming, much less two, but Li said there is help at Sanford Health.

“What’s so great about ‘The Castle’ is that we’re all here together and work with each other. In addition to myself to help treat his PWS, we have him on a hormone growth, which the endocrine team helps manage.

“He’s being seen by a dermatologist here for Bloom syndrome because it predisposes to a lot of cancer risk. He’s also well plugged in to all of our therapy teams. He’s a little celebrity,” Li said.

Sanford Health also has resources for Harbor and Whetsel, and other parents who find themselves in similar situations.

“We have our complex care clinic that helps parents manage a child with a rare disorder, which can become a full-time job between therapies and appointments,” Li explained.

Committed to fighting rare diseases

Sanford Health is uniquely positioned to partner with Eyeris and his family through this diagnosis because of the health system’s commitment to rare and undiagnosed diseases.

There’s a lot that’s unknown and uncertain about the future for Eyeris. However, Li said he’s on a good path because of the work his parents and Sanford Health did to diagnose him early.

“His parents were huge advocates. He started on the growth hormone very, very early on. The growth hormone has been shown for PWS to improve developmental outcomes. So he’s making great gains in development,” Li said.

“So I think he’s going to have a really great outcome. He’s meeting milestones and making those really good gains. Every time I see him, he’s doing something new, which is awesome.”

Eyeris is working with the Sanford Dermatology Clinic. The team is monitoring him for skin cancer symptoms, which he is at risk for with Bloom syndrome.

“We’re not 100 percent that he will develop it, but again, because we knew early, we can intervene and treat as soon as possible,” Li explained.

Bloom syndrome puts Eyeris at higher risk for all types of cancers, not just skin cancer. Because of this, he gets abdominal scans every few months to make sure there’s no cancer growing in his kidneys or any other part of his body.

‘You can tell they genuinely care’

Whatever the future holds, Harbor and Whetsel said they’ll take it in stride and face challenges as they come.

They said they’re comforted to know that they have partners like Li and Sanford Health on their side.

“You can tell they genuinely care. I never once felt like they were trying to pass us on. Dr. Li’s been there from the beginning. I will forever be grateful,” Harbor said.

“As far as Eyeris knows, this is life as he knows it,” Whetsel said. “He doesn’t know there’s anything wrong with him. Your child is created and beautiful just the way God or the creator you believe in intended it. Your child doesn’t know there’s anything wrong with them, so why would you live on that? Enjoy the time that you have and the beauty that they are.”

Learn more

• Rare disease registry: Giving hope and impacting research
• Family faces multiple diagnoses for genetic condition NF1
• Netflix ‘Diagnosis’ family searches for rare disease clues