The story of Tatiana
You may have not heard this syndrome before so neither I had before my son Sebastian was born. What a learning journey it was. I first learned how difficult it is to diagnose this rare condition that my son got. I learned that MCT8-AHDS is a neurological condition that affects mobility, cognition and general health. It is a genetic disorder that predominantly affects boys and in rare cases girls. It is considered an ultra rare disorder. A disease is considered rare when it affects fewer than 1 in 2,000 people
So I learned I was the carrier of this genetic condition and passed it to him. According to statistics less than 300 people have this syndrome (yes! 300 people among 7 Billion). I was told that my son will not have motor functions, will not be verbal, will not be able to feed himself.
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It has been an amazing journey. I started learning about him as he was growing, I started learning how to communicate with him. He communicates with sounds, looks and with his beautiful smile. Just like any other kid, he laughs at silly stuff, he gets angry if he does not get his way. I also learned how he was dealing with social interactions, and social acceptance. I learned he was scared when people looked at him with different eyes. I also saw how happy he was when people accepted him and showed attention to him.
He is 8 years old now and I can say that he is a happy boy, a chick magnet, a crazy soccer fan, he hates math and loves video games and horses. I still have a lot to learn and Sebastian is the best teacher to do so.
February 28th is Rare disease day which is a globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease. I invite you to create awareness. More than 300M people globally are affected by a rare disease.