Jack Thomas was born on July 8, 2008. He was 7 pounds, 5 ounces, 20 1/2 inches long and perfect! He was welcomed home by three older sisters, Lexi, Lilli, and Sophi, who were very excited to finally have a little brother. We live in Indiana, so of course the basketball goal went up the day we read “BOY” on the ultrasound. Little did we know Jack would never get the chance to shoot hoops with his dad.
Jack began missing developmental milestones around 6 months old. Our local pediatrician referred us to a pediatric neurologist at Riley Children’s Hospital in Indianapolis and the testing began. His neurologist suspected a mitochondrial disease; something that we had never heard of, but would quickly become familiar with the devastating effects. In November 2010, just after his 2nd birthday, Jack had a muscle biopsy at Cleveland Clinic in Cleveland, Ohio. The biopsy showed that Jack had a mitochondrial dysfunction with defects in Complex 1 and 2. Over the next couple of years, Jack began to have increased difficulty with his muscle control, resulting in an inability to swallow and numerous respiratory infections. In February 2012, an MRI performed during a hospitalization showed that Jack had cerebral atrophy, which meant the balance center of his brain was shrinking and causing increased weakness throughout his body. Sadly, we were told that Jack had a progressive form of the disease and a very uncertain future.
Mitochondria are responsible for 90% of the energy that our body needs to function. When a defect is present in the mitochondria, it can result in a variety of symptoms with no two individuals being affected in the same way. In Jack’s case, the disease manifested in the form of hypotonia, or low muscle tone. This also affected his respiratory and GI systems, resulting in asthma type symptoms, recurrent infections, constipation and reflux. Even with physical, occupational and speech therapy sessions four times a week, Jack was never able to sit, crawl, walk or talk. Jack was officially diagnosed with “failure to thrive,” resulting in a G-Tube placement. He was heat intolerant, requiring a cooling vest to be able to enjoy warm summer days. Jack was in and out of hospitals and had just about every blood and urine test you can imagine. He took 10+ different medications, several times a day, every day. In the last few months of his life, Jack would have round the clock breathing, vest and cough assist treatments because he was too weak to cough on his own. He had oxygen when needed and slept with a bipap machine at night. Eventually, his respiratory system started to fail and at the end of August 2012, he developed pneumonia and was admitted to the PICU at Riley Children’s Hospital. His condition continued to deteriorate. On September 7, at 4:57 p.m., only two months after he turned 4, Jack took his last breath on earth and entered Heaven as he was lovingly held by his mommy and surrounded by his family.
The United Mitochondrial Disease Foundation (UMDF) was formed by families affected by mitochondrial disease. The Foundation provides support to families and funds mitochondrial disease research. Since 1996, the UMDF has funded nearly $11 million in research projects aimed at finding better treatments for mitochondrial diseases, with the ultimate goal of a cure. This research has increased the understanding of mitochondrial function, improved diagnosis and moved us closer to treatments and, ultimately, a cure for those who face this devastating disease.
Grants have supported research for one to three years at institutions across the United States, Canada, Europe, and Australia. Recently, projects have included studying what mechanisms in abnormal mitochondria cause muscle dysfunction, enzyme replacement therapy and other potential treatments, as well as developing models for specific mitochondrial disorders.
Every 30 minutes, a child is born who will develop a mitochondrial disease by age 10. Each year, 1,000 to 4,000 children in the United States are born with a mitochondrial disease. While exact numbers of children and adults suffering from mitochondrial disease are hard to determine, we now know the disease is approaching the frequency of childhood cancers. Many people who suffer from mitochondrial disease are frequently misdiagnosed due to a lack of specialists. This is why we need your support.
Through research, the medical world will one day have the resources to help children like Jack win the battle against mitochondrial disease. Until then, please help the Edwards family and UMDF “redefine hope” for everyone affected by mitochondrial disease through a donation to the Jack Edwards Family Research Fund.
Jack was a precious gift from God. He was a wonderful blessing to our family and everyone who had the pleasure of meeting him. He touched many lives without ever speaking a word. Jack was extremely smart, tough as nails and had an amazing smile. He loved watching movies with his sisters. “Mickey Mouse,” “Elf,” and “Polar Express” were his favorites! His favorite place to be was on the tractor with his daddy. Jack Thomas was the center of our world and we were blessed that God placed him in our care for four years. Although he was fighting for his life, Jack never failed to flash his amazing smile. He taught us many valuable lessons during his four short years; unconditional love, kindness, hope and courage just to name a few. We learned that a strong support from our families, church, friends and our faith in Jesus Christ was instrumental for us to continue to fight this devastating disease. A fight we have not relinquished, as we want to honor Jack by doing everything we can to help find a cure for the horrible disease that stole his life. It is our hope that Jack’s memory will live on and future generations will be saved by raising awareness and funds to further research for less invasive testing, treatments and eventually a cure for those living with mitochondrial disease.
Mitochondrial disease is as prevalent as some childhood cancers, although most people have never heard of the disease. Please help us to change these statistics and keep Jack’s memory alive by donating to the UMDF. All donations made in Jack’s name will go directly to his research fund. Thank you for taking the time to read about our precious boy and for your help in finding a cure!
Tom and Melinda Edwards
We need more research to find a cure.