Eleanor

Eleanor was born and lots of pink was brought into our home. She appeared to be healthy, happy, and typical as she approached 6 months, but being the third child what we were expecting wasn’t happening as time went on. Her unexplained delays, loss of body control episodes, random paroxysmal torticollis and in general hard times to thrive were hard to accept. We began talking to our pediatrician and were told that some children just develop slower than others, but her mother still knew something wasn’t quite right. She didn’t start walking until she was 2 years old. At 9 months, we started Eleanor with Early Childhood Intervention (ECI), a service offered by the school districts in Texas. She began speech and physical therapy and still was not reaching the milestones that we had observed in her brothers. Her mother had noticed that at times she would go into a sort of trance and her body would almost go numb on one side. We would ask her doctor about it, but there were no explanations. When she was almost 2, we were on a mini vacation in New Mexico when she had an episode that not only us, but her grandparents witnessed. We took her to the emergency room back home and they ran tests on her for epilepsy and stroke. After spending the night in the hospital and having several scans done, nothing was found. After further discussion with our pediatrician, we were referred to Cook Children’s Hospital where we met with multiple pediatric neurologists and geneticists. More tests were ran and still, we knew nothing. We finally were referred to a pediatric neurologist with Cook’s who specialized in movement disorders. We were told that her symptoms resembled benign paroxysmal torticollis, but her speech and mobility delays still could not be explained. We continued to treat symptoms, but we had no explanation for what was going on. We were referred to do a Whole Exome Gene Test, which came back normal as well. It took a while to accept the normal test results and yet be grateful for them at the same time, but she was still beautiful and perfect with a smile that still beamed with love. A few days before Christmas of 2016, Eleanor started feeling sick but we thought it was just a virus. On Christmas morning, she was to the point she couldn’t even lift her own head, so we loaded up in the car and made the 4 hour drive to Fort Worth to Cook Children’s Emergency Room. We were told that Eleanor had rhabdomyolysis and that her CK levels were so high they couldn’t even get a good count on them. After spending 58 days in the hospital, Eleanor was finally at a point they would release us to go home. When we were headed back to Fort Worth for a follow up appointment in April of 2017, we received a phone call from a Fort Worth number. We were told that when Eleanor was in the hospital they wanted her Whole Exome Test looked at again. Dr. Alice Bassinger, a geneticist with Cook’s, was calling to inform us that they had identified a deleted gene sequence known as Tango2 in Eleanor’s test. Dr. Bassinger told us that we could look it up online, but that it was discovered within the past nine months and there were only two papers on it. They worked us in the next morning to meet with Dr. Bassinger and we got further explanation. We were so thankful to finally have a name for what was going on, but at the same time aggravated because there was no data on the subject. We searched for others with Tango2, but it was so new that we found nothing. One night, after checking often, Laura stumbled on a Facebook group for Tango2 parents. We have learned so much in the short time we have been members, but most importantly, we know we are not alone. Eleanor is the hardest working, most motivated girl you could imagine. She has sounds and can be sassy, but she is still trying to find her voice. She has sign approximations, sounds, and gestures she uses to communicate. She is currently learning to use an AAC device to have a full language. We are full of hope for her future. While she can be a bit bossy, she never met a stranger and always wants to know the name of those she comes in contact with. She is a caring person who usually has her purse in tote. Her days can be hard, but her testimony is strong.