Mother's Story Brings Attention To Issue Of Mitochondrial Diseases, Cerebral Palsy In Young Children

 -- 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.

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.

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."

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The story is a heartbreaking one.  Although the afflictions in this story are likely the result of a genetic disease, too often young children suffer from birth injuries, such as cerebral palsy, or being misdaignosed, as the result of medical neglience.    The law firm of Gray and White Law repesents victims of medical malpractice, including birth-related injuries.  If your family has been the victim of a birth-related injury, please contact, or email, the experienced attorneys of Gray and White Law for your free consultation.