Sebby, our 10-year-old son, is a cheeky, happy, caring and empathetic young man. He loves swimming, unicorns, horse riding, all things farming, playing outside and going to school. He enjoys baking and gardening too. He is really interested in other people and likes to look after them by getting them drinks and snacks! He just loves to be helpful.
We first noticed wobbly episodes in Sebby at around 14 months. He would have trouble standing, became very lethargic and showed weakness on one side. His development began to really slow down at this point and he stopped meeting developmental milestones. He had repeated episodes of extreme fatigue, one sided weakness and head tilts. He had a number of tests and investigations, all coming back clear. We saw many professionals who could not figure out what was happening.
Eventually we were entered into some genetic research to try and look for a rare condition. Finally, 6 years after entering the research trial a result came through and he was diagnosed with TANGO2. Sebby needs support with most aspects of his development, including mobility, speech, learning, motor control and his health. He is remarkable! He is such a resilient boy who has a smile and laugh that will light up any room.
We focus on Sebby doing the things he loves and developing his skills of independence and learning. We hope that the research happening will help to promote the health of all of our young people and for professionals working with our community to better understand the disease and be able to efficiently and effectively treat and support TANGO2.