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Youngster copes with rare genetic disorder

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The change comes almost like flipping a switch.

Audrey Howe can be outside in the summer heat, running around in the grass and playing with her three older siblings. Laughing and jumping, she acts just like any kid.

But her parents know better. Katy and Jason Howe watch her carefully for the telltale signs that her body is running on empty — limp muscles or a droopy eyelid.

Like a power plant that can’t produce enough electricity to run a city, Audrey Howe’s cells don’t give her the energy she needs to function. The Center Grove area girl suffers from mitochondrial disease, a genetic disorder that affects one out of 2,500 people in the U.S.

Though it can be treated and controlled, patients and their families live with the constant threat of the debilitating disease being fatal.

“It’s about energy conservation, so that her liver and her heart and her kidneys can use that energy to keep her alive,” Katy Howe said.

Found in nearly every cell in the human body, mitochondria are responsible for creating energy. The organ-like section of the cell turns food and oxygen into usable energy.

Mitochondrial disease is a broad descriptor for more than 40 diseases that affect the mitochondria. People with mitochondrial disease find that, often, their cells produce just enough energy for them to keep their brains, heart, lungs and other organs functioning.

On days that are very hot, if a patient fights a cold or is in any other situation that taxes their systems, their body can fail.

“When she gets sick, something does shut down, and you don’t know what it’s going to be,” Jason Howe said.

More about Mitochondrial disease

What is mitochondrial disease?

A collection of diseases that result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells.

What is the role of mitochondria?

Mitochondria are responsible for creating more than 90 percent of the energy needed by the body to sustain life and support growth.

What is the danger in these diseases?

When mitochondria fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised.

What parts so the body are most susceptible?

It appears to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.

Who does mitochondrial disease affect?

The disease primarily affects children, but adult onset is becoming more and more common.

What are the symptoms?

Symptoms may include loss of motor control, muscle weakness and pain, gastrointestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual and hearing problems, developmental delays and susceptibility to infection.

Where can I find out more information?

Grasping for causes

The disease is caused by a recessive gene that both parents have to have to pass on. Even if both parents have the recessive gene, there is only a 25 percent chance that each child born would have the disease.

“It was one in a million that we’d find each other and have children and this would happen,” Katy Howe said.

Audrey was born Dec. 24, 2008. The fourth child of Katy and Jason Howe, she seemed like a healthy, happy little girl.

There were no complications with the birth, and the family was able to go home after two days.

But that’s when the nightmare started. While lying in her grandmother’s arms, Audrey stopped breathing.

Her body was limp, a sickly purple-blue color, and even after Katy Howe performed mouth-to-mouth resuscitation, she didn’t respond.

“I don’t remember much from that day, but I remember turning and saying, ‘Call 911,’” Katy Howe said. “In my mind, I thought I was going to lose my daughter.”

Audrey was taken immediately to IU Health Methodist Hospital in Indianapolis. Immediately, her case puzzled doctors. She had low muscle tone, and her heart rate had dropped to less than half what a healthy newborn should be. Every 15 minutes, she stopped breathing.

Doctors grasped for potential causes. The initial culprit seemed to be liver failure, since Audrey was extremely jaundiced when she came into the hospital.

But a team of doctors trained in metabolism diseases was called in from Riley Hospital for Children at IU Health. They were the first to suggest it might be a mitochondrial problem.

Audrey was sent home from intensive care, and her parents were instructed to give her medication that would allow her cells to better process energy.

The Howes also were given a heart monitor that would beep incessantly if Audrey stopped breathing.

Audrey also was going through occupational and physical therapy, working on grasping items, moving her arms and legs and rolling over. But her muscles kept breaking down and robbing her of strength.

Diagnosis confirmed

Changes in medication rendered her almost completely immobile, with only her eyes following people when they came into the room. At that point, doctors were confident that Audrey had mitochondrial disease.

Unfortunately, the only way to know for sure was to take a muscle biopsy at Medical Neurogenetics, a lab in Atlanta.

“We could have had it done at Riley, but they would have to freeze the specimen and send it to Atlanta. But if they freeze it, they can’t test certain things,” Jason Howe said. “I didn’t want her to get the muscle biopsy and still have certain things they couldn’t figure out.”

When the results came back two months later, the Howes learned that more than half of Audrey’s mitochondria didn’t work. She also couldn’t convert folic acid into folate, a necessity for cell growth and function of the nervous system.

Once they realized what was happening to their daughter, the Howes wanted to know how to treat the disease.

Every day, Audrey takes eight medications. She has to take a natural substance called coenzyme Q-10 to help with energy generation. Riboflavin aids in metabolism. Carnitine, leucovorin and a multivitamin allow her body to replace the energy that she doesn’t get naturally.

“We put all of it together in a cocktail, and she just swallows it down. She’s a trooper,” Katy Howe said.

She constantly has to deal with fluid in her lungs, as she doesn’t have the muscle coordination and development to swallow properly. That has damaged her lungs and left her with asthma-like symptoms, so she has to use an inhaler.

Life at home

The Howes learned how to manage the disease to give Audrey as normal a life as possible. She can still play with her siblings Isaac, 16, Hannah, 13, and Eliza, 7.

The best strategy is to run, jump and play for 15 minutes, before taking a short rest, said Dr. Bryan Hainline, one of Audrey’s doctors at Riley. She has to balance activity and rest to maximize energy, he said.

Her body is constantly breaking down her muscle tissue to try to compensate for the lack of energy being created by the cells.

Audrey gets dehydrated quickly, so she also needs to drink as many glasses of water each day as possible.

“Some days, like when it’s cool, it’s wonderful for her. She can go out and play for an hour without sitting down,” Katy Howe said. “But in the summer, the Howe kids are the ones playing outside at night, when it’s dark and cooler.”

At times, Audrey will have to wear a cooling vest, a contraption that holds frozen packets and help keep the body cool. Her body can’t compensate for the heat, and she could spiral into listlessness.

“It’s almost like she reverts to being a baby. She can’t do anything,” Katy Howe said.

Sometimes, they’ll have to push her in a special stroller. Though she could walk on her own, burning the energy it would take would wipe Audrey out.

“It’s not that they can’t walk or are being lazy, it’s about saving it for what she needs,” Katy Howe said.

Reaching out for support

The family also found it helpful to reach out to others who suffered from the disease and were living reasonably typical lives.

One of them was Colby Wren. The 22-year-old was a standout football and baseball player who realized he was getting sick after every practice. He was diagnosed with mitochondrial disease but learned to manage it enough to earn a scholarship for baseball to the Georgia Institute of Technology.

Wren has become a friend of the family. He attended a fundraiser that the Howes organized in September to raise money for research into mitochondrial disease. He also presented a standing invitation to call if they ever needed to talk.

“He let Jason and I know, this doesn’t have to be a death sentence,” Katy Howe said.

The Howes plan to send her to kindergarten at SS. Francis and Clare School and are working with occupational therapists to learn how they can have her adjust to the rigors of school without putting herself in danger.

Audrey attends preschool at SS. Francis and Clare three mornings each week. She said her favorite things are painting and playing with her friends.

The family wants to give her as typical of a childhood as she can. And while they can’t escape the disease that has made their daughter’s first four years so difficult, they don’t have to lie down and give in to it, either, Katy Howe said.

“Mitochondrial disease is one part of Audrey,” her mother said. “It doesn’t define her. It’s not all that she is.”

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