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Reagan's story

Our daughter, Reagan Leigh, was born in March 2007. The first few months of her life were relatively normal. Like all new parents, we were adjusting to sleep deprivation while learning to console a fussy, colicky baby, or so we thought at the time.

When Reagan was about 5 months old, during my day care pickup, I found her crying. This was not out of the ordinary. What immediately caught my attention was a strange jerking-type movement. It was almost as if she was startled. Her arms would extend forward and her head and neck would jerk back. She was twitching every few seconds. Her caregivers said she had been doing this for the past hour. I immediately felt sick to my stomach and knew something was wrong.

Reagan’s pediatrician was very concerned and suspected that it may have been a seizure episode. She referred us to Texas Children’s Hospital for a battery of tests. An abnormal electroencephalogram (EEG) pattern confirmed our fears.

Reagan was diagnosed with a catastrophic seizure disorder called infantile spasms, for which there is no cure. Our hearts sank, and at that moment, we experienced how a person’s entire life could change with the blink of an eye!

We were told the seemingly insignificant twitches were, in fact, very harmful to her brain development and needed to be controlled immediately. Her neurologists at Texas Children’s tried many different combinations of anti-epileptic drugs to get her seizures under control. Unfortunately, the seizures continued to increase. At one point, she was having more than 1,000 seizures a day!

It took many attempts to find the right anti-epileptic drug that would reduce Reagan’s seizures. We were so glad that her neurologists at Texas Children’s worked with us until they found the right one that worked for her.

Reagan is now on her 14 medication. We are relieved this medication has not only decreased the frequency of her seizures but has slowly stopped them altogether.

Reagan’s seizures were not the only thing we were battling. She had substantial developmental delays, unable to talk, walk or even sit. She was diagnosed with cortical visual impairment and later diagnosed with cataracts in both eyes. She was a poor eater, her GI system wasn't functioning properly and she eventually required a G-tube to keep her fed. She was also diagnosed with a suppressed immune system.

When Reagan was a baby, I started a blog, A day in the life of Reagan Leigh, to keep track of Reagan’s symptoms and also to regularly update my family and friends. The blog became the lifeline that connected me to many parents whose children had similar health issues. Many of these children would eventually be diagnosed with mitochondrial disorders.

As a biomedical researcher, I thought that there had to be a common biological cause related to Reagan's seizures and other symptoms. I would spend hours reading up on scientific articles to find a common molecular mechanism. Everything pointed to a possible dysfunction in mitochondria, the energy generators of all cells, including neurons. However, I was unsure if this information was relevant or how to proceed with that information.

We contacted Dr. John Belmont at Texas Children’s, who was Reagan’s geneticist at the time, and scheduled a muscle biopsy. The results determined she had defects in multiple mitochondrial complexes. While we were relieved to have finally found some molecular reason behind Reagan’s issues, it led to even more questions. Did she have a primary mitochondrial disease or was this mitochondrial dysfunction secondary to some other mutation?

The physicians at Texas Children’s eventually reanalyzed the results of her exome sequencing to see if they could unearth any new clues. It was discovered she had a mutation in a master controller gene, NACC1. Shortly after receiving this news, we were contacted by Dr. Michael Wangler, geneticist at Texas Children’s who is also an investigator at the Jan and Dan Duncan Neurological Research Institute. He informed us he had found six other children through the Undiagnosed Disease Network as well as the Centers for Mendelian Genomics and the Baylor Genetics laboratories. All these children had symptoms similar to Reagan and also carried this mutation! You can read more about this finding which was recently published in the American Journal of Human Genetics.

It is not clear how mutations in the NACC1 gene cause these diverse symptoms but we are relieved to have finally found a link to Reagan’s health problems! Dr. Wangler’s team is continuing to study the biological function of this gene and we feel assured they will find answers to those questions soon.

Our faith, family and the many friends we have made online through the blog have helped us through these difficult years. We would like to pass on those blessings. We ask that if you are a parent or a relative of a child who has symptoms similar to Reagan, please feel free to connect with me through the blog or the NACC1 Family Facebook page. It is important we not only support each other, but we aid researchers, like Dr. Wangler, in their efforts to find a cure for our children.

Dr. Tera Guidry, mother of the patient
Wednesday, March 22, 2017