I came into the world on an afternoon in May 2018. May, the 1st to be exact. No Labor Day for my parents that year. After a rough arrival, I extended my stay at the hospital due to an infection. The first of a long series…
My name is Matteo Covini, I am 4 years old, and I am Nyssa’s little brother. With our parents, Caroline and David, we live in Vienna, Austria. Both are researchers in pharmaceutical industries.
My life could have probably been simpler, but nature decided that it would be extraordinary. Already at an early age, I got used to the hospital environment. It seemed clear that something was wrong with me. I was rejected by 2 different Kindergarten and my parents struggled to find a place in a suitable placement. While I was hypotonic, unresponsive, often sick, doctors were alarmist and unconcerned at the same time, blaming my numerous infections for my delayed development.
I went to many occupational therapists, psychologists and other specialists who were never able to help me.
I only started walking when I was 28 months old. I’m not complaining, not all my peers are that lucky. I still lack stability due to my ataxia, but I am improving. I communicate with a very restricted vocabulary, but I know how to make myself understood through my smiles and my hands.
On August 17, 2021, after 8 months of genetic investigations, my diagnosis finally came. I have MeCP2 duplication syndrome (MDS). After an appointment with the geneticist without any psychological support, my parents and I left her university office with a heavy heart and multiple unanswered questions.
In the following weeks, my parents googled everything they could about this rare and progressive disorder. They contacted all the active people who have contributed to the advances on the syndrome in the last 20 years. As a result, my parents became active members (vice presidents) of the French association for MDS and created their own association in Austria for the same cause. They have also established links with most of the associations, parent groups and researchers worldwide.
Research is progressing, hopes are certain. The collective effort will allow a treatment. In the meantime, in addition to financing research, it is necessary to raise awareness on rare diseases, in order to support families and placements that welcome all extraordinary children.
Life is sometimes unfair, but it is worth living. Despite the long list of symptoms and the prognosis of this syndrome, I am a happy, smiling little boy. My parents’ greatest fear is the probable onset of epileptic seizures, which could take away a large part of my achievements, faster than they have arrived. That’s why we can’t wait any longer, we must move faster.
P.S.: For more information, you can visit my Instagram account (matteo_mds) or lespetitsmecp2.org (new website of the French association in multi languages will be online end of September 2022).