Family seeks awareness, support for rare disorder

By Tammy Keith Published September 15, 2013 at 12:00 a.m.
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Eilish Palmer / Contributing Photographer

Charity and Jimmy Luyet of Conway have four children, including Samuel, 5. He was diagnosed in 2011 with mitochondrial disease, which ranges in severity. Samuel’s disease affects his muscle tone and energy levels, as well his ability to tolerate heat. This week is National Mitochondrial Disease Awareness Week. Charity said Samuel has been “a blessing to all our family” and always has a smile on his face. More information is available at www.umdf.org.

— Charity Luyet of Conway said her fourth pregnancy was her easiest, but the delivery was the worst, and the news didn’t get better.

Samuel, 5, was diagnosed in 2011 with a mitochondrial disease, a rare genetic disorder.

“It’s so hard because nobody knows anything about it,” she said.

Today through Saturday is National Mitochondrial Disease Awareness Week.

Luyet and her husband, Jimmy, have three older children: James, 22; Emily, 21; and William, 18.

Luyet had Samuel when she was 37. When he was born, Samuel had problems breathing, and as he grew, he wasn’t meeting developmental milestones, she said.

“You could just tell — he had very low muscle tone, was sick all the time,” she said.

A Conway pediatrician sent them to Arkansas Children’s Hospital, and genetic testing confirmed that Samuel has a mitochondrial disease, “but we don’t know where his specific defect is,” Luyet said.

“I was a little overwhelmed and didn’t understand it,” said Luyet, who is a nurse at St. Joseph School in Conway. “The hardest thing was there was no awareness and no support, so I had to look up everything on my own.”

Mitochondria are specialized compartments present in every cell of the body except for red blood cells, according to the United Mitochondria Disease Foundation website. Mitochondria are responsible for creating more than 90 percent of the energy needed by the body to sustain life and support growth.

Mitochondria disease seems to cause the most damage to the cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems. The disease can be mild or fatal.

The child or adult with the diseases may have seizures, severe vomiting, failure to thrive, heat/cold intolerance, poor muscle tone, delayed achievement of milestones, severe diarrhea/constipation, feeding problems, inability to fight typical childhood infections or repeated infections, and fevers without a known origin, the website states.

Samuel is in a regular kindergarten classroom at St. Joseph School.

His disease manifests itself in several ways.

“He consumes 50 percent more oxygen than the normal child. We don’t know why, and it’s causing problems with his heart,” Luyet said.

“He fatigues extremely easily. He cannot tolerate heat. He wears a cooling vest at recess — it’s the only way he can go outside and play with the kids,” she said.

Because people are so unfamiliar with the disease, Luyet said, she made a “mitochondrial action plan” for the school, and she said the teachers are attentive to her son’s needs.

Luyet said Samuel also has problems regulating his blood sugar and has to eat every two hours.

Still, he acts like a typical 5-year-old boy, she said.

“If you met him, the first thing you would think is there’s nothing wrong with him. He’s so social and just loves to be around people,” she said.

“He’s extremely, extremely intelligent, but [the disease] has affected his muscles and his development,” she said.

He has taken physical, occupational and speech therapy at Pediatrics Plus Therapy Services in Conway since he was 18 months old.

One of the part-time therapists there, Alisha Holloway of Vilonia, has two biological children and two foster children with the disease, and was herself diagnosed with the disease two years ago.

Holloway said she once worked with Samuel when another therapist was out, but last week was the first time the families met.

“Of course, it’s great for me to know there’s somebody else. She’s been on this journey,” Holloway said of Luyet.

The parents agree that a support group is needed, and they are trying to get the word out about the disease.

“We are getting our stories out and hopefully reaching out if there are any other families out there we’re not aware of,” Luyet said.

“I’ve bought T-shirts for his therapists to wear and ordered bracelets,” she said.

Luyet said she and some friends are training to run the Little Rock Marathon in March and will wear T-shirts imprinted with, “For Samuel and those with mitochondrial disease.”

Holloway said a 5K walk/race is being planned for the third week of September 2014, and a Facebook page will be set up in the next few weeks.

Luyet said she takes Samuel to Arkansas Children’s Hospital a couple of times a month.

She said that in October, Samuel will start participating in a mitochondrial research study.

“We hope during that study to learn more about his disease,” she said.

Dealing with this disease is not something she ever could have imagined.

“After you get through the denial and anger stage, I guess our faith now is what’s carrying us through,” Luyet said.

“To have three normal [children], I would have never in a million years thought I’d be [a] parent raising a special-needs child, and to me, he’s not — he’s perfect,” she said.

Senior writer Tammy Keith can be reached at (501) 327-0370 or tkeith@arkansasonline.com.

Niche Publications Senior Writer Tammy Keith can be reached at 501-327-0370 or tkeith@arkansasonline.com.

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