'With their disease you don't know what their future is. We have faith that ultimately our kids are going to be okay,' says Kathy McElhinny:

'I know God is there'

GREG & KATHY, John Mark, 7, Heather, 2, & Andrew, 9 months.

Rare disorder hits Melbourne family three times

By Betty Morris
FLORIDA TODAY
Sunday, September 28, 1997

  Their children's rare disease is playing havoc with the lives of Kathy and Greg McElhinny.  They worry every waking hour and wonder what the future holds.

  John Mark, 7, Heather, 2, and Andrew, 9 months, have been sick most of their lives, afflicted with mitochondrial disease, for which there is no known cure.

  The disease prevents cells from creating the energy needed to sustain life and growth.

  "This is kind of every parent's nightmare," says Kathy McElhinny, 29.  "When you have a baby, you say, 'Thank God it's healthy.'  But when you have three children who are not, it's really hard for us to think they might not grow up."

  Facing this unpredictable future is even harder because so little is known about the disease.  The limited treatment available consists mainly of a combination of vitamins.

  There are no available statistics on how many children and adults are affected.

  But scientists say the disease is more common than diagnoses would indicate, according to Kathryn Parsons, director of the United Mitochondrial Disease Foundation.

  "We just want people to know about the disease," Kathy McElhinny said.  "People are being misdiagnosed.  Babies and children are being diagnosed as 'failure to thrive', when its really mitochondrial disease, not neglect."

  Two of the McElhinny children are attached to feeding tubes and must have round the clock care.  The parents face mounting medical bills and constant emotional agony.

  In a letter to another mother of children with mitochondrial disease, Kathy wrote, "Some days I am so angry at how unfair life is.  Some days I am so exhausted, I go to the right doctor on the right day but with the wrong kid.  Some days I watch my son struggle to breathe.  I try to console a baby who screams sometimes 20 straight hours."
WHAT IS IT?
  Mitochondrial diseases result from failures of the mitochondria, which are specialized compartments present in almost every cell in the body.  They are responsible for creating more than 90 percent of the energy needed by the body to sustain life and support growth.
  Mitochondria are composed of tiny packages of enzymes that turn nutrients into energy.
  When mitochondria fail, less energy is generated within the cell and can lead to the death of the cell.  If this process is repeated on a large scale throughout the body, whole systems in the body begin to fail.
  Symptoms may include poor growth, loss of motor control, muscle weakness, gastro-intestinal disorders, reflux and swallowing difficulties, cardiac disease, liver disease, diabetes, respiratory complications visual or hearing problems, susceptibility to infection, developmental delay, learning disabilities or retardation, seizures and lactic acidosis.
  Source: United Mitochondrial Disease Foundation

'Do something'

  When John Mark was five years old, doctors discovered that one of his kidneys had shriveled up, and that he had kidney stones in the other.  He was born with a malfunctioning thyroid, and has taken a synthetic thyroid hormone all of his life.  As a baby, he repeatedly had pneumonia, respiratory and ear infections.

  Also, he seemed to have an incredible tolerance for pain, Kathy said.  "They'd do IV's and he'd never flinch.  He fell on the coffee table when he was one year old and broke his nose and hardly even cried."

  The Creel Elementary School second-grader had said only two words by his second birthday and was diagnosed as developmentally delayed, she said.  Through physical therapy and speech therapy he progressed, and was reading by age 3.

  He was doing well by the time Heather was born on March 3, 1995.  She weighed only 4 pounds 12 ounces, and was sick from the start.

  She couldn't suck.  Her fingers were limp.  She didn't grow like a typical baby.  Instead, she [stayed thin].  At eight months, she weighed ten pounds.

  "I could see her getting tinier, weaker every day and I kept screaming for someone to do something," Kathy said "I said, 'My kid is dying.'"

  Dr. Joseph Cimino with Melbourne Neurologic was the first to mention mitochondrial disease to Kathy and Greg, and the one who eventually did a muscle biopsy on Heather to confirm it.

  Many children are affected in the muscles first, he said, but the disease can affect major organs, vision, hearing and even cause strokes and seizures.

  Cimino said he is following six cases in Brevard County.

  "What we have here is probably the tip of the iceberg.  We're screening more and I think the more you look for it, the more likely you are to come up with a diagnosis."

  Cimino gave Kathy a book to read on mitochondrial disease, filled with grim information.  He prescribed the vitamin supplement, Coenzyme Q-10, plus carnitine and riboflavin.

  "We left the office and Greg goes, 'Oh, this is great. We'll just give her vitamins and she'll be [fine].' I said, 'No, she won't be [fine],'" Kathy said.

  Greg, a software engineer with United Space Alliance, said, "It's hard to believe that there's anything wrong with Heather the way she runs around."

  But, one look at her feeding tube tells the story.  It was permanently placed in her stomach when she was eight months old because she had stopped eating.

  She was too tired to eat and would close her mouth, Kathy said.  With the tube, she is fed every three hours during the day and is on the "drip" machine at night.  "The tube saved her life," her mother said.

  Now, at 2 , Heather weighs 21 pounds.  She attends South Pine Grove School in Melbourne because she was born with a small brain, and has slight delays in her development.

  In March, the results of a January muscle biopsy confirmed that Heather has mitochondrial disease.

GREG McELHINNY helps daughter Heather, 2, with her shoes.
Familiar footsteps

  Andrew, who weighed 6 pounds, 6 ounces at birth last November 25 and still is underweight at 15 pounds, has had a skin biopsy, but the results are not back yet.

  He has been sick a lot, often screaming for hours at a time.

  Geneticist John McReynolds with Nemours Children's Clinic in Orlando diagnosed him with lactic acidosis, one of about 30 known disorders caused by mitochondrial disease.  (Since, John Mark and Heather also have been diagnosed with lactic acidosis.)

  Heather and Andrew have been accepted in an upcoming drug trial for drugs to lower lactic acid at Shands Teaching Hospital in Gainesville.

  In Heather's case, McReynolds still is trying to find the cause of her metabolic abnormality so he can come up with a better treatment plan, and also to find out whether she inherited the disease from her mother, which is usually the case, or from both parents.

  "It's just in the last five years or so that we really understand this kind of inheritance," McReynolds said.

  Following in familiar footsteps, Andrew ended up in Health First Holmes Regional Medical Center Sept. 8-9, suffering from dehydration because he couldn't swallow.

  Pediatrician Mahesh Soni put a temporary feeding tube in his nose, and is considering a permanent feeding tube.  He is fed every four hours during the day, and for ten hours at night.

  Kathy has had to learn to operate the equipment.  Before connecting the feeding tube, she puts a stethoscope on Andrew's stomach and shoots air in.  When she hears it bubble she knows its in the right place.

  "It's real scary," she said.  "Every time I do this I say, 'Please God, let it be in the right place.'"

Support System

  Her parents, Gerhard and Marilee Pietsch of Melbourne, have been the McElhinnys greatest support system, giving them thousands of dollars to get settled in a house big enough for five and money for expenses when needed.

  "They've given us money left and right," Kathy said.  "Thank God for them.  I can call my dad and he'll come over to baby sit even if it's 3 a.m.  He never complains."

  Her dad says it's his nature to do what he can to help.

  "They need a lot of help.  And, I love the kids," he said.  John Mark usually spends Saturday nights with his grandparents and is treated to church and breakfast out on Sunday mornings.

  Even though Greg has a salary in the low $40,000 range, medical bills are nonstop, and staggering.  Because she is developmentally delayed, Heather qualified for $148 every other month from Supplemental Security Income from Social Security, and Medicaid covers her medical expenses.

  The Women, Infants and Children program under the Department of Children and Families provides Heather's special high calorie Pediasure formula, Kathy said.

  Even though their insurance covers the other two children, Kathy said they had out of pocket expenses of about $7000 dollars last year.  There have been months when they received 40 medical bills.

  The community has extended help.  Members of their church, Satellite Beach United Methodist, frequently baby sit sit so Greg and Kathy can go out, or to give Kathy relief at home.  Also, ARC-Brevard, Inc., through the United Cerebral Palsy Foundation, provides 12 hours of respite care a month, at $2 an hour.

  "This is in-home care for children with developmental disabilities and their siblings," said Susan Suomi, director of respite services for ARC.

  A fellow church member, Gary Balinsky, franchise owner of the General Nutrition Center at Melbourne Square Mall, donates about $150 dollars worth of vitamins for the children each month.

  Wendy Potter, a therapist with Child and Family Consultants, contracted by Children's Medical Services Early Intervention Program, helps the family with stress and monitors the children.

  "We just try to live one day at a time," Kathy said.  "With their disease you don't know what the future is.  We have faith that ultimately our kids will be OK. I know God is there."

You may use these URL's (links) to visit the following related websites:

The McElhinny Family's Website, and information about MITO-DOC - MITOchondrial Disease Outreach Center, the support group that the McElhinny's participate in.  The Mitochondrial Disease Outreach Center is a group of individuals in the Central Florida area that is working together to support research into, promote awareness of, and offer support to families affected by a Mitochondrial disease.


'She's not dead, she's not dead, she's just restin' in the busom of Jesus.'

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Photographs: Copyright © 1997 Craig Rubadoux
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