Kailyn and Charis’ Story
According to the United Mitochondrial Disease Foundation, every 30 minutes a child is born who will develop mitochondrial disease by age 10. Statistically, only 20% of kids with a mitochondrial disease will live passed the age of 20. We have two of these kids. On May 10, 2012, my husband and I were told that our 3-year-old daughter has this disease, and that if not treated, could eventually lead to her early death. On August 30, 2012, we found out that our other daughter, Charis, just one year old, is carrying that same disease.
Our heart-wrenching journey began on a very positive note. I had always wanted a big family, and just a few short years ago, I was blessed with the news that I was pregnant. After an easy pregnancy, I gave birth to a beautiful baby girl—Kailyn. But within a year, we started noticing signs of an abnormal baby. Our world quickly turned upside down. After dozens of tests, we were sat down within the walls of a cold, sterile doctor’s office and told that our daughter’s invisible killer is called mitochondrial disease.
At around 1 year of age, my husband and I expected to see our little girl walk. Everyone kept telling us she was fine and that kids walk at all different months. We waited until she was 18 months old to start any kind of test. From the time she was 18 months old until she was 39 months, doctors did a long series of testing. All the while, she couldn’t walk unassisted, her talking consisted of babbling, she had acid reflux and asthma, and her reflexes were very slow. It took us two and a half years to get a diagnosis for Kailyn—two and a half years filled with two MRIs, tubes in the ears, an echocardiogram, a sleep study, two neurologists, a geneticist, other specialists, x-rays, vision and hearing tests, blood tests and so on. The good news is that at least by the time Charis had issues, we had a name for what it was and she didn’t have to endure the long list of testing her sister had undergone.
Kailyn and Charis have a specific genetic mutation called NARP (Neuropathy, Ataxia, and Retinitis Pigmentosa). This is a condition that causes a variety of signs and symptoms chiefly affecting the nervous system. Beginning in childhood, some children with NARP experience numbness, tingling, or pain in the arms and legs, muscle weakness, vision loss and problems with balance and coordination. There can be a risk of neurological setbacks with common infections. Learning disabilities and developmental delays are often seen in children with NARP, and older individuals with this condition may experience a loss of intellectual function (dementia). The NARP mutation is also a common cause of the deadly mitocondrial disease called Leigh Syndrome, which can lead to neurological degeneration, loss of language, loss of muscle tone, seizures, and death. The signs and symptoms of NARP vary among affected individuals.
As most moms, I had full expectations that my children would meet all developmental milestones, make friends, go to school, go to college and later get married and have their own children. This expectation soon turned into a dream—if they live past high school, people with high percentages of NARP have a brain capacity that will not likely surpass the age of 16, an unlikely promise of a future college student or healthy family life.
Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they 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 that person’s life is severely compromised. The disease primarily affects children, but adult onset is just as common but even more difficult to diagnose. We were told that diseases of the mitochondria appear to primarily damage cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.
Both Kailyn and Charis have the same diagnosis—80-90% NARP mutation. There are no treatments; there is no cure. We left the doctor’s office with instructions to start the “mito cocktail” of supplements consisting of CoQ10, Bcomplex, Levocarnintine, Lipoic acid and calcium, continue with occupational, speech and physical therapy and prevent them from getting sick because a common cold or virus can turn into something a lot more serious for kids with mito. We walked out with a huge, gaping hole in our hearts. Within a matter of seconds, this huge piece was ripped out, and we still haven’t quite figured out how to put it back together. On a positive note, our hearts are bigger now in that our daughters get the best of us each and every day, because we don’t know when our last day with them will be.
Our beautiful daughters are lucky; other than not walking or talking at age level, they are happy and relatively healthy. Our doctor says that for now, they have a mild case of what can one day take them from us. At least we get to hear our daughters say, “I wuh yuh” and watch them laugh when we make silly faces. So many other “mito” kids can’t even roll over, swallow their food or watch their favorite cartoons on TV. Our daughters are lucky that they can crawl, say “ma-ma” and “da-da” and light up when we enter the room.
There are a lot of days we don’t feel so lucky. But then we see our beautiful angels smile, laugh and play every day and it snaps us out of our sadness. We cherish them every day, and they are our heroes. They push us to keep going through our daily madness and strive to be the best parents we can be.
There is no cure or effective treatment, but there is hope. Our hope is that by raising funds and awareness for mitochondrial disease, we can help researchers find something promising, faster. We are very fortunate to have the Mitochondrial and Metabolic Disease Center at the University of California, San Diego. Dr. Naviaux and his team dedicate their lives to meet the growing need for treatment, diagnosis, and research in the emerging field of mitochondrial medicine. Unfortunately, funding and support are very much in need to help them help us. We have teamed up with UCSD and created the UCSD Mito Research Fund. Through this fund, we will be helping support Dr. Naviaux and his team continue to research this disease, to bring hope for a brighter future to children and families around the world affected by mitochondrial disease.
Help us in our mission towards a cure, we are planning a walk called “The Mito Walk and Roll” that will be held at Liberty Station in May. This event will help us raise funds and awareness for research in mitochondrial disease. Please be a part of this special event!