Our personal journey began back in 2002 when our son Ryan, who had been developing normally until his first birthday, began struggling with with episodic bouts of muscle weakness, paroxysmal torticollis and other neurological and muscle related issues. Developmental milestones that he had been previously reached, slowly faded away and future ones grew more distant. The cognitive and physical divide between Ryan and his peers continued to widen and today he struggles with things most of us take for granted.
A decade of looking for answers with the best doctors and hospitals in Hartford, New York, Boston and New Haven yielded no results. Everything came back normal - reality of course was quite a bit different. This all changed in June of 2017 when we were told by Dr. Michele Spencer-Manzon, a Geneticist with Yale Children's Hospital, that Ryan had a deletion in the TANGO2 gene on chromosome 22 that had just recently been identified as a gene that contributes to human disease. Finally, a test that didn't come back normal and could begin to explain Ryan's struggles.
Having a diagnosis after all these years came with mixed emotions. Objectively, we knew knowing was better than not knowing. But, what we were learning about it was very scary - TANGO2 disease is characterized by rhabdomyolysis, metabolic crises, life-threatening cardiac arrhythmia and neurodegeneration. Many of the children involved in the initial studies that identified TANGO2 as a gene related to human disease had expressed symptoms much worse than Ryan and several had died. There is not enough information available to know what the long-term prognosis is. What did this mean for Ryan? What did this mean for us as a family?
In mid-November 2017, while still wrestling with the gravity of Ryan's diagnosis and being asked to make medical decisions that would have long lasting impacts on his well-being, we were so very fortunate to find a support group on Facebook where a small (but growing) group of parents had found one another and started to connect and share their stories. It was started by Veronica Jones, a TANGO2 parent from California. We were warmly welcomed into that community and it immediately gave us the sense we were not alone on this journey.
What become very clear as we engaged with this community and learned of their experiences with their children and the medical community, is that not nearly enough is known about how it is that TANGO2 mutations affect our children at the most basic cellular, metabolic and biochemical level. The talented and caring professionals that are working so hard to help our children, lack the benefit of this basic research and are doing the best they can with very limited research and data. That is where the idea for the TANGO2 Research Foundation came from.
Mike & Kasha Morris
East Hampton, CT