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Vital Signs

Genetic disease: Mother hopes for cure for dying children

By Stephanie Shapiro, Special to CNN
STORY HIGHLIGHTS
  • Stephanie Shapiro has two children with mitochondrial disease
  • They suffer from seizures, are unable to speak and are not expected to live very long
  • "I pray other families do not have to go through the heartache we have endured," she says
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Stephanie Shapiro is an Atlanta, Georgia-based mum of two, whose children, Hannah, six, and Jake, four, have a rare genetic condition. She is featured in this month's Vital Signs show. She writes for CNN about the challenges of raising two children with mitochondrial disease and her hopes for the future.

Atlanta, Georgia (CNN) -- Every 30 minutes, somewhere in the world a child is born who will develop a mitochondrial disease by the age of 10 (according to the United Mitochondrial Disease Foundation).

I know this statement by heart. Prior to my daughter's birth, I had never heard of mitochondrial disease. My only vague recollection of mitochondria came from high school biology. I remembered "The mighty mitochondria, the powerhouse of the cell."

When our daughter Hannah was born, she was so perfect, at least that's what the AGPAR scores (a method for assessing the health of newborns) and doctors told us, even when we, her parents, knew something wasn't quite right.

It all began so simply, as the nurse calmly told my husband and me: "Hannah seems a little cold; I'm going to take her down to the NICU Unit to warm her up a bit."

Video: Living with genetic disease

An hour later, a doctor told us: "We think Hannah has a metabolic disease, we don't know if she will make it through the night."

Hannah was less than 24 hours old. Quickly, our world became filled with words like seizure disorder, brain atrophy, global delay, and mitochondrial disease.

Determined to have a large family, and believing this couldn't possibly happen again, 18 months later our son was born.

Jake's entrance into the world was fast and furious...an emergency C-Section, a "blue baby..." The cord had wrapped around his neck. No one could tell how long he had been deprived oxygen.

Just like Hannah, though, quickly came the medical terms ... seizures, atrophy, and delay. First the doctors diagnosed him with cerebral palsy. Children are often under-diagnosed with cerebral palsy because the symptoms of that and mitochondrial diseases can be so similar.

We pushed forward and later he was given the same diagnosis as his sister. I am a carrier. I too may someday show symptoms of the disease. What makes me cry at night, however, is the thought I gave this to my children.

RESEARCH BREAKTHROUGH
In August, researchers at Oregon Health and Science University, in Portland, announced they had found a way to potentially prevent mitochondrial disease.

Mitochondria are tiny structures with their own DNA, found in all cells in our bodies. They produce most of the energy we need to function normally.

Mitochondrial disease is caused by a genetic defect in the mitochondrial DNA inside a mother's egg.

The researchers took healthy nuclear DNA from a monkey that had genetically defective mitochondria and transferred it into an egg from another monkey, from which the nuclear DNA had been removed, but which still contained its own healthy mitochondria.

They reported that the eggs resulted in the birth of three healthy monkeys with no sign of birth defects.

The researchers are now hoping to work with human eggs and embryos, to find out if the technique also works in humans.

Mitochondria are tiny structures found in all cells in our bodies and produce most of the energy we need to function normally.

Since almost all of our body's organs rely on mitochondria for energy, people suffering from a mitochondrial disease may have a wide variety of symptoms. There are many faces of mitochondrial disease.

They are young, old, and in-between. Some run and play, laugh and dance. Others are confined to a wheelchair and technological devices simply to sustain life. Symptoms can start at any age: from birth till death.

Watch Stephanie's story on Vital Signs.

It is difficult to diagnose mitochondrial diseases and the only current test is a muscle biopsy. This procedure in itself can be painful, intrusive, and expensive. Individuals may suffer from high levels of fatigue, muscle or heart weakness, diabetes, strokes, or vision and hearing loss.

Hannah and Jake's condition is severe. Their prognosis is poor and they are not expected to live very long. They suffer from a variety of seizures, ranging in length from seconds to hours. Hannah and Jake are non-verbal and non-ambulatory.

Two years ago, they lost the ability to safely swallow; they cannot digest food at the same rate as a child their age. They are fed through a 24-hour g-tube surgically placed in their stomach.

Often they suffer from cyclic vomiting and we worry about dehydration. Their bodies are unable to self-regulate their core body temperature and we must be vigilant they are not too cold or too hot. They rely on me and my husband for their every basic need.

Although they cannot speak in words, cannot wrap their arms around me, hugging me tight, or wipe the tears I cry, they have an inner force and passion that surpasses their developmental limitations and age.

When I look at Hannah and Jake, and the many other children suffering from mitochondrial disease, I do not see what they can't do, but what they have already done. They have taught me patience, hope, strength, and grace.

Through organizations such as the United Mitochondrial Disease Foundation my husband and I found emotional support, educational support and parents facing issues similar to ours. We are not alone. There are too many families with stories similar to mine.

I am aware my children will die some day in the near future. I have attended the funerals of far too many children. I have sat during services praying my children won't be next.

For us, every day is a gift. Through awareness and research, I do see a day where parents will receive a diagnosis and continue to save for college rather than their child's funeral.

I pray for a cure. I hope and pray other families do not have to go through the heartache we have endured. Currently there is no cure for mitochondrial disease.

It is a nasty, progressive monster. In the five years since my family has begun this journey, I have watched research towards a cure increase, as well as awareness. This is the proof of a better future for children and adults struggling with this disease. It is proof tomorrow can be a better day.

 
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