Edoardo is 3 1/2 years old. Before being diagnosed with Tango2 disease, he had three severe episodes of rhabdomyolysis (at 13, 27 and 28 months old) with cognitive and motor impairment.
Since he was 9 months old, he started showing some delays in acquiring cognitive and motor milestones. Nevertheless, he was sociable and interacted with those around him.
The first rhabdomyolysis attack occurred when he was 13 months old: very high CK levels, severe hypoanatremia and cardiac complications. We spent 3 months in the hospital undertaking all sorts of tests, without being able to find a diagnosis. We returned home hoping that this was just a one-time episode and that Edoardo would recover soon.
Back home, Edoardo slowly regained muscle tone: started crawling at 18 months, holding himself upright by clutching at a frontal support at 21 months and moving laterally at 24 months. He was producing a few sounds, without real lallation. He did not imitate adults and played in a repetitive way, without significant evolution in its complexity.
At the age of 27 months, Edoardo had a 2nd episode of rhabdomyolysis (one year after the first one). This attack resembled the first one and it was treated in the same way. After 4 weeks of hospitalization, CK levels were back to normal, but he developed a viral infection: CK raised again and the heart was severely affected and experienced a cardiogenic shock (with cardiac arrest). He was in intensive care for two weeks under heavy drug treatment. A nasogastric tube was placed for feeding. Several weeks after heart failure, he slowly started to move again and regained some strength. Recovering from the second attack was extremely difficult for Edoardo and took him nearly 6 months to get back to where he was before the attack.
Thanks to exome sequencing, we finally put a name to his disease. This was both a shock and a relief: at least we now knew what he had and we could do our best to prevent new crises.
Now, January 2018, Edoardo has progressed in both motor and cognitive aspects. He crawls, stands up and moves some steps with limited support. He does understand basic questions and replies non verbally to them. He is always happy and loves being with family and is curious about new people and things.
After all we've been through, we consider every day he is with us an invaluable gift. When he smiles he makes us forget all difficulties we faced and still have to face in the future.
We are glad we found other Tango 2 families with whom to share our experiences, joys and concerns. We are confident that together we will be able to find a cure for our children!