Family lives with daughter's illness
Paetyn Harpstead, 3, runs because it can be too difficult to walk.
"She runs because she doesn't want to fall down," her grandpa Phil Harpstead said.
"When she runs around the house or at the park by herself, she looks perfectly fine," Paetyn's mom Amber Harpstead said. "But when she's at the park with other kids the same age, I can tell the difference and it sucks."
Paetyn has Ataxia-Telangiectasia or A-T. It is a rare genetic disease that attacks in early childhood. Kids with A-T are predisposed to having cancer and have severely compromised immune systems. The disease progressively attacks coordination. It's as rare as 1 in 40,000 births. Children are usually unable to walk by age 10 and may not survive beyond their teens. They rarely survive beyond their early 20s.
"You see how it is going to be in the future," Amber said. "You can already see it now."
Paetyn is an independent 3-year-old, her parents said.
"She's just a bubble of fun," her dad Kyle said. "She's always smiley and always on the go."
And as with many three-year-olds, she wants to keep up with her older brothers Logan, 9, and Jasper, 6. But she can't and it's not just because she's three. The A-T causes even more of a disadvantage.
To know that his daughter's future is destined to be different than his sons' is something so tough, Kyle can't complete the sentence.
The Harpsteads and her grandparents, Phil and Gail Harpstead and Michele Clark, all live in Morris. Paetyn's illness has put them all on a series of days and nights that can shift as swiftly as the weather.
"Within 12 hours we can go from her being perfectly fine to us being in the ER," Amber said.
Paetyn is susceptible to germs that can trigger a breakdown in her immune system. And the breakdown can be dramatic which leads to the emergency room.
But the Harpsteads are accustomed to doctors, clinics and hospitals. And they are more hopeful these days, not necessarily for a cure but for an improved life for Paetyn for as long as she lives. Paetyn is scheduled for an October visit to Johns Hopkins in Bethesda, Maryland. It's a leading clinic in treating patients with A-T.
This October visit was scheduled after Paetyn was diagnosed with A-T on June 16. The diagnosis came after nearly three years of testing because A-T is a sneaky disease with symptoms similar to other illnesses.
Paetyn was diagnosed with severe combined immunodeficiency symptoms in her newborn screening.
Although it was later learned SCID was an incorrect diagnosis, Amber said the newborn screening was an important factor in her child's life.
The screening caught a problem, and eventually, A-T was identified.
The SCID diagnosis meant Paetyn was going to be like a child in a bubble, Amber said.
"We moved forward with the SCID diagnosis ...," Amber said.
The Harpsteads were working with their doctor in Morris, doctors in Fargo, North Dakota, and doctors at the Mayo Clinic in Rochester. The Mayo Clinic had decided to take on Paetyn as a research patient, Amber said.
Doctors determined Paetyn would need a bone marrow transplant. But the next year Paetyn endured ear infections and bladder infections. Doctors drew blood and took skin samples from Paetyn and Kyle.
And the family prepared for a bone marrow marrow transplant that was scheduled for this past spring
"I'd come home from work and I'd have to strip and shower and put a mask on," said Kyle, who works at the family business, Mohr Plumbing and Heating.
"We were preparing for them to be gone for six months," Clark said of the expected bone marrow transplant.
The skin tests led to the A-T diagnosis.
"Doctors knew something was wrong ...," Clark said. "We finally got the diagnosis. Of course, it wasn't the diagnosis we were hoping for." But now the family knew what it was dealing with.
A world of doctors, nurses
Amber knows the names and all about the three babies the nurses at the clinic in Fargo have had in the past three years.
"She has to go to Fargo for an IV infusion all day once a month," Phil said. "Currently, those are on hold."
"We've been seeing the same nurses the same doctors, since she was a week old," Amber said.
Paetyn's veins are not easy to tap. An anesthesiologist is now the only staff member who can insert the IV into Paetyn's vein.
"He's mommy's favorite because he can get her on the first poke," Amber said,
But he's not Paetyn's favorite.
"When she sees him she starts screaming," Paetyn said.
"The last few times we've gone up there, she's said, 'No doctor. No poke,'" Amber said. "It takes three people to hold her down to start an IV."
It's tough. Although the staff is great to Paetyn, no one can relieve all the fears or even the pain, Amber said.
"I don't want her to fear going. It's not something she's ever going to get away from," Amber said.
Family, friend support
"Something like this is almost impossible without a support group," Michele Clark said.
The support system not only exists for Paetyn but for the entire family.
The Harpsteads and Clark are ready to care for Paetyn or Logan or Jasper, often on a minute's notice.
"It's not just family but friends," Amber said. Friends help mow the lawn or handle other chores when the Harpsteads are gone with a sick child or a clinic visit.
Amber is a stay-at-home mom and all three grandparents work.
"We try to help with whatever we can," Gail said.
"Of all of us, Gail is the most patient," Michele said.
"Not too much shakes me," Gail said.
While Amber and Kyle are coping with Paetyn's illness they are also the parents of Logan and Jasper.
Amber and Kyle schedule one-on-one activities for each of the boys. Kyle will take one son out for the night and Amber will be with the other son when Paetyn has gone to sleep.
The boys are also helpful with Paetyn even though they don't always understand her illness or why she may get a toy after a doctor's visit.
Gail is often the one talking about things with Logan and Jasper. "There is a lot the boys don't understand," Gail said. "They ask questions and I try to give them an answer I think they will understand, so they know what's going on."
Phil worries the couple may internalize too many emotions.
"Last year, we started seeing a counselor, discussing things," Amber said. "Talking about stuff ..."
The couple rarely has time alone. Michele said Amber and Kyle have learned each other's stressors and she's watched them support each other and deal with the stress.
The mutual support is good but Michele doesn't want them to ever think they have to handle the situation on their own.
There is no cure for A-T.
"This is not something that is going to go away like cancer," Michele said. "You can't have a surgery, raise funds and the thing will go away."
"Things will get better, then, they will get worse," Michele said.
The hope for the Johns Hopkins visit is to get treatment advice and a care plan that will connect all of Paetyn's doctors in Fargo, Morris and Rochester, Amber said.
"They will put together a care plan they think is best for her," Amber said. "We will all be on the same page. The continuity of care will be nice."
This care won't be a cure but it's a hope that Paetyn's life will be the best it can be, family members said.
The hope is that there could be a cure for Paetyn and other kids.
Yet, the reality is there. "I never expected to outlive one of my grandkids," Phil said.
But Paetyn's illness is not something to run from instead, Amber said, they, move forward to make it better.
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