Meet our daughter Katie. When you look at Katie you see a typical 14 year old girl, and in some ways she is. She loves music, watching YouTube videos, swimming and just hanging out with family and friends just like other kids her age, but Katie isn’t like every other kid her age. She struggles with something that very few of us have heard of, know much about, or can do anything about.
About a year ago we received a call from one of the many physicians we had seen over the years and we were told that we have a diagnosis. They had our blood on file and were able to link us to others with similar symptoms and the same genetic abnormality. Katie had a diagnosis of Tango2. For years we had been searching and hoping for a medical diagnosis and now we have one. The only problem is that there isn’t much known about Tango2. There is no cure, there isn’t any treatment or pill to take that will make things better for her.
When Katie was about 3 we really started to notice that something was off. Looking back it probably started a year earlier, but wasn’t obvious to us as parents. We thought the stumbling around was because she was tired, her lack of memory was because she wasn’t paying attention. The symptoms that made us call the doctor where that Katie wasn’t able to walk a straight line and her head was tilted to the 10 o’clock position. Off to the ER we went, and after a couple days stay, and all kinds of tests including a spinal tap, CT, MRI, EEG, they sent us home with no answers and all test results were normal. Over the next several years she would have many similar episodes… trouble walking, trouble speaking, trouble sitting up and sometimes trouble with using her hands… each time just a little different. We had visited many doctors but no one could tell us what was happening, why it was happening or treat the symptoms.
In 2013 Katie became very sick; we thought she had the flu, but it ended up being much worse than that. In the middle of the night we ended up in an ambulance on our way to the hospital. Katie was admitted to the PICU and was unconscious for about 2 days, and no one knew why. We weren’t sure if she would ever wake up and if she did we weren’t sure how she would be. We were lucky Katie made it through, some kids have not been so lucky. We started over trying to find a diagnosis. We were off to see new physicians in multiple states with high hopes. We ended up having genetic testing done, still no answers. The doctors kept her sample on file which ultimately led the clinicians to connecting her to others with the same deletion in the Tango2 gene.
We still don’t really know what this diagnosis means for us and for Katie, but we now know we are not alone and find hope in that. Katie will always struggle developmentally and cognitively, but now that we have this diagnosis perhaps we can better protect her from having another metabolic episode and if it does happen again we will at least be better informed and prepared to treat her.