Jackson

Meet our sweet boy Jackson. He was born on October 28, 2011. Jackson was born healthy. There were no birth or pregnancy complications. At 4 months of age, we noticed he was more fussy than usual and he began showing symptoms of acid reflux as well as feeding intolerance in general. He was slow to roll over, and seemed to have days where he was able to roll over and hold his head up, and days where he was unable to do these things. At 6 months of age, he began physical and occupational therapy addressing developmental delay and feeding problems. Although we started medication, changed formulas and bottles several times, he was continuing to have progressively worsened GERD, and stomach pain with constipation. We brought him to many doctors, who were unable to help or figured he just had bad acid reflux and that he would grow out of it and be fine. His symptoms were fleeting, we would bring him to the doctor with a certain symptom usually involving muscle weakness of some kind, but it would resolve quickly-before we had a chance to show the doctor. At nine months old, he was still not consistently rolling over or holding his head up and was considered globally developmentally delayed. He was unable to sit up or crawl. He was failure to thrive and had a nasogastric feeding tube placed to help him grow. At 11 months of age, he had a permanent feeding tube placed. After surgery, he developed hypoglycemia. It was treated, but he never seemed the same after this incident. Shortly after this, we started seeing possible seizure activity. After an EEG, his neurologist diagnosed him with Infantile Spasms, a very catastrophic form of epilepsy. He regressed in all skills he had at this point. His symptoms were vast and puzzling to all doctors who treated him. Other symptoms he had included dysphagia, ankle clonus, microcephaly, neurodegeneration, epileptic encephalopathy, cerebral atrophy, multiple forms of nystagmus, dystonia, hip dysplasia, kidney stones, high blood pressure, hypotonia of his trunk, and hypertonic arms and legs. He had severe gastroparesis, and at age 18 months, had a GJ tube placed. He was unable to digest any food in his stomach at this point, all feeds bypassed his stomach and went in to his small intestine. Although this helped him grow some, he still suffered intractable vomiting every day. He was diagnosed with optic nerve atrophy at 2 years old, and by the time he was three, he was blind. It is hard to tell the medical story of Jackson because he endured more pain and suffering than many experience in their lifetimes. There was so much more to him than his medical history! Jackson was always happy. He smiled at every single person he saw. He never spoke one word, but was able to communicate so much through his facial expressions, eye contact, and vocalizations. He was so strong. I remember a time when one of his nurses had repeatedly poked him trying to place an IV. She felt so bad and let out a sigh. Jackson smiled so big at her. It was as if he was consoling her! He had a contagious laugh that would brighten anyone’s day. He loved sitting in his Mom’s lap, hearing the same books being read over and over again. Playing and laughing with Dad was one of his favorite things. Music was always on in our home, and he loved dancing and humming along. Comfort was a main goal in Jackson’s medical plan. He was on palliative care beginning at age 15 months. When he was 3 years old, his gastroparesis was worsening. He was in severe pain most of the time. It was at this point that we decided, with the help of Jackson’s many specialists, to place him on hospice. He passed away at 3 years, 4 months of age on February 23, 2015. One of the hardest parts about his passing, was not knowing the disease that took his life. At that point, we had gone through two rounds of Whole Exome Sequencing with no diagnosis. It wasn’t until September of 2016 that we received the TANGO2 related mitochondrial disease diagnosis. Jackson’s two younger siblings Daniel and McKenna also have this disease. We are so thankful to be a part of the TANGO2 Research Foundation and hope that through telling our stories, doctors will learn more about this disease and be able to diagnose it quicker and easier and hopefully one day there will be treatment and ultimately a cure!