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Surviving and thriving with an incurable disease
Aug. 12, 2013

By Kristen Miller
News Editor

DASSEL, MN – “Despite what she has gone through, Rachel has an unbelievable spirit,” said Julie Ardoff of her 5-year-old daughter who was diagnosed with a rare and fatal genetic disorder known as mitochondrial disease at 18 months of age.

Mitochondrial disease occurs when the mitochondria in a person’s cell cannot convert food into life-sustaining energy.

For Rachel, this means low muscle tone, delayed speech, and difficulty with fine motor skills.

Though she can walk independently for short distances, Rachel uses a walker, wheelchair, and specialized leg braces for stability.

“Usually when a child is diagnosed as an infant, they don’t survive childhood,” Julie said. The older the child gets, however, the better chance they will have the strength to fight it. Julie noted that children who survive likely only live through their teenage years.

“Eventually, her organs will fail,” she said, which is why they live life day by day and see each day with Rachel as a blessing.

Leading up to the diagnosis

Rachel was born in June 2008, and following her return home, her parents, Chad and Julie, received an urgent call from the doctor regarding an abnormal amino acid test.

It was decided that the low-levels of citrulline, an amino acid needed to assist in digestion of protein, was not significant enough to be too concerned, but that it would be monitored as Rachel grew.

Julie described Rachel as a “fussy baby who was known for spitting and vomiting frequently.”

Though the couple tried different formulas, nothing seemed to help.

As far as development, she progressed normally for the first few months, but then seemed to stop. Oftentimes, Rachel was in the lower 25 percentile for weight, and wasn’t reaching the milestones expected at 9 months.

Julie pushed to have Rachel see a specialist at the University when she was 10 months old.

More tests were performed, but the doctor assured them that Rachel was most likely a “late bloomer.”

Later that evening, the Ardoffs received an urgent call from the university doctor informing them that Rachel’s citrulline levels were non-existent. Because this aids in digestion of protein, the family was advised that Rachel begin the necessary medication.

For seven months, Rachel underwent several tests ruling out other metabolic and genetic disorders.

Finally, her doctor suggested her mitochondrial DNA be tested because of a “hunch” she had.

“Her hunch was confirmed in October 2009,” Julie said, five months after she was tested for it.

Finding this specific mutation in the mitochondria can take years, Julie said, adding Rachel’s results came very quickly.

Mitochondrial mutations are maternally inherited, Julie noted. Both she and her mother, Lois Dahl, were tested and found to carry the mutation.

It was noted that adults can develop the disease later in life and children are becoming diagnosed more often.

Leaders in mitochondrial medicine agree that the disease is diagnosed in at least one in 4,000 (as common as cystic fibrosis). But they also believe that since there are many more people affected than currently diagnosed, that number is likely to be closer to one in 1,000, according to the book “Living Well with Mitochondrial Disease.”

It was noted that people find themselves living with the symptoms for months or years before finally getting a diagnosis. Such symptoms may include seizures, lack of energy, muscle pain and weakness, memory and concentration issues, heat intolerance, developmental delay, constipation, reflux, nausea, and difficulty recovering from an illness.

Living with the disease

Because the cells are damaged, getting the stomach flu for Rachel can be very dangerous, Julie commented. In fact, the last two times she was sick with the flu, she was transferred to the University of Minnesota for care.

The family is cautious about putting her into certain environments, such as daycare and school, because of her susceptibility to illness and lack of strength to combat it.

Every time she gets sick, the family hopes and prays Rachel will survive it.

“You just do what you can . . . it’s not on our time,” Julie said, adding that every day is a blessing. “Having a strong faith has made a world of difference, too.”

Also, because of Rachel’s instability, someone needs to be by her side when she walks.

“Safety is the biggest concern,” Julie said.

Because there is currently no cure for the disease, Rachel is on a “mitochondrial cocktail” of vitamins and supplements and also sees a specialist every four months.

Seeing the smile on Rachel’s face and how happy she is, one couldn’t tell the complications she lives with each day.

“Despite what she’s gone through, she has an unbelievable spirit,” Julie commented. She also noted that Rachel continues to amaze her specialists with her progress.

As parents, Chad and Julie try to learn as much as they can about the disease and how they can make life for Rachel as comfortable as possible.

They have a strong support network through their church, Dassel Covenant, and with families that are also living with the disease.

Rachel’s specialist has also been fantastic. “It’s amazing the support we get from [the University of Minnesota],” Julie commented.

Finding a cure, raising awareness

Three years ago, the Ardoff family participated in their first Energy for Life Walkathon, a 1.9-mile walk in Bloomington raising money and awareness for the United Mitochondrial Disease Foundation.

For Julie, this was at a time when she was still in denial about Rachel’s condition and wasn’t sure if she even wanted to participate. Julie noted that it’s like the grieving process – shock, disbelief, grief, sorrow, anger, isolation, and denial.

However, when Julie arrived at the location of the walk, being there and seeing all the families going through similar trials, she became eager to do what she could to raise awareness and help find a cure.

This year, the Ardoff family and friends will again walk as part of the team Rachel’s Rockets Saturday, Aug. 17. To walk or show financial support, visit www.energyforlifewalk.org/minnesota.

Lights of Love for Rachel

In an effort to show support for the Ardoffs, a Lights of Love for Rachel luminary lighting is planned for Saturday, Aug. 17 at their home, 407 Circle View Drive, Dassel at sunset (approximately 8:15 p.m.).

For a free-will donation, luminaries will be decorated on behalf of the donor for the lighting, and donations will go toward the United Mitochondrial Disease Foundation.

Donations for luminaries can be made at both Red Rooster Foods and The Marketplace grocery stores Monday through Friday this week from 4 to 6 p.m. Online donors for Rachel’s Rockets team will also have a luminary made on their behalf.

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