Mitochondrial Disease: The Story of Two Brothers

by Sarah Kopacko

Editor’s Note: At this time of the year, many of us look for someone we can help by making their life a little brighter or lightening a financial burden.  I ask each of you to read Sarah’s story and visit the Kopacko Family website to learn more about this terrible disease and the day-to-day struggles that Colin (age 4) and Jesse (age 1) and their parents must cope with. Please find it in your heart to make a small contribution to help them with medical expenses. Thank you!

Let me start out by saying that our sweet boys mean the world to us, and have taught us how important it is to enjoy the little things in life. Most people never get to meet their heroes, but we are lucky enough to have given birth to ours!

Everything started with the excitement of finding out that we were expecting our first baby who would be joining our little family in July of 2008. We gave birth to our first son, Colin, on June 19, 2008, and other than low birth weight and some blood sugar issues, he was healthy. We took our sweet little man home weighing just five pounds when he was five days old. He struggled to gain weight from the beginning, but it is when we first tried to introduce baby food that we realized there was a problem. He was not able to eat any baby foods, or table foods for that matter, without vomiting.

We started seeing one specialist after another as well as putting him in a therapy feeding group when he turned one. No one could figure out what was wrong, but he was labeled failure to thrive and we were told he had an oral aversion. He continued to struggle to gain weight and eat anything until he was two and a half and we ended up having to get a G-tube [a medical device used to provide nutrition to patients who cannot obtain nutrition by mouth, are unable to swallow safely, or need nutritional supplementation] for him on December 9, 2010 in order for him to survive. At this point, he weighed just over twenty pounds, which is what a typical ten to twelve month old weighs. Once he got his G-tube he started gaining weight and looking healthier by the month, however things were still not easy. More and more medical issues started showing up, but it was not until our second son was born that the doctors really started taking a look at our boys.

On January 28, 2011 our sweet Jesse was born. I, Sarah, knew right away we were dealing with the same situation, but everyone just told me to take a few months to let him grow before I start to stress. As Jesse hit two months old, Jason (Colin and Jesse’s daddy) and I started to realize more and more that we needed to get a doctor who was willing to help us figure this all out.

Jesse, much like his brother, was unable to accept most baby foods, and table foods were even harder to get his little body to digest. By the time he was one, both of the boys were with a new Gastroenterologist (a branch of medicine focused on the digestive system and its disorders) and we were testing away. We found that both of the boys had Gastroparesis, which means that they have a paralyzed stomach. This explained why they were not able to eat foods without vomiting or being in massive amounts of pain. While this was an answer, we knew it was not all that was wrong, something just was not lining up.

We put both the boys on an amino acid based formula, which is already broken down so the body does not have to work as hard to digest it, to try and help their bodies accept the formula without vomiting. We continued to search for answers for the boys other symptoms which included but were not limited to; excessive sweating no matter the temperature, heat intolerance, fatigue, muscle pain, leg pain, difficulty sleeping, low muscle tone, head ache, and gastroparesis.

By June of 2012, both boys were really struggling, but Jesse was starting to lose his ability to walk and talk. On August 22, 2012 Jesse was admitted to the emergency room because he could no longer support himself and was in desperate need of a feeding tube. He got his G-tube on August 28, 2012 after four days of being on an NG tube (the insertion of a plastic tube through the nose, past the throat, and down into the stomach) to gain strength for his surgery. When his surgery was done, he went into respiratory distress after waking from anesthesia which made an already scary day terrifying. After he was stable, a group of doctors came in and explained to us that they felt that both of our babies had something called Mitochondrial Disease (Mito), and our world was turned upside down yet again. At this point, both of our boys were put on continuous feeds for twenty three hours a day, and we started looking into private duty nursing to help watch over the boys at night so that we could try and get some solid sleep.

We had been in the tube fed world long enough to know a little bit about Mitochondrial Disease, and what we did know was scary. We knew more children die yearly of this disease than childhood cancer. We knew that there were many who had reached out to us in support whose children had already passed away. We knew that it was a progressive disorder that had no treatment, and all we could do was manage their symptoms as best we could. The fear that was within us was overwhelming.

We were told that the doctors there had not seen mitochondrial cases, and that we should look into seeing a specialist. Our options were Boston, or Dr. Kendall in Atlanta, Georgia, and we decided Atlanta would be best for us. Our appointment was set for November 21, 2012 which was the day before Thanksgiving. The worry seemed to get worse as the appointment got closer, and we began trying to raise money for the trip as it all comes out of our pocket. Over the years, the medical bills have been astronomical, and we decided it would be best to set up a website for the boys where we could update people as well as raise donation money for their medical bills, treatment, and equipment. We were blessed enough to raise just enough money to make the trip and start the process of getting more testing done on the boys in order to figure out the best way to help manage their symptoms.

Early morning on the 21st of November, we headed towards Atlanta to see Dr. Kendall, and we were full of both excitement and fear. The appointment was a whirlwind of information, and allowed us to let out a sigh of relief as she started to explain how we could try and better manage their pain, and also got the boys set to get fitted for special strollers to help them get out and about more. They have a slew of testing to go through in December, and will be starting something called a Mito Cocktail by January 2013. The cocktail is a vitamin mixture that both boys will be on in order to help slow the progression of the Mitochondrial Disease. We are hopeful that the next few months will bring both of our sweet boys some relief.

The past 4 years have been spent searching for an answer, and now that we have an answer.

It is something that does not have a cure or treatment

We are more focused now than ever to make our kids as happy and comfortable as we can. We want to thank everyone for the prayers and support that we have and will receive, and invite you all to visit our website to keep up with the boys.

Continue reading this story about Colin and his little brother, Jesse on the Kopacko Family blog. For more information about how you can help, contact Sarah, Colin and Jesse’s mommy.

*all definitions courtesy of Wikipedia