My pregnancy was a normal one; it was my third pregnancy. We had regular check-ups every month, including chorionic villus sampling. The baby was growing strong, and the doctors assured us that everything was going well during the pregnancy. Mia was born in 2021 through an emergency C-section, weighing almost 4 kg. She spent her first weeks of life in an incubator, and we couldn’t bring her home for a few weeks. During those weeks, the doctors noticed Mia’s hypotonia, which ranged from mild to severe at times. She also had saturation problems and apnea episodes, and she couldn’t feed from a bottle due to weak suction. When we finally returned home, Mia was connected to a computer for saturation monitoring while she slept and needed oxygen.

Those were very difficult months, as the doctors attributed Mia’s hypotonia to rare diseases despite our belief that it was a result of the traumatic birth. They conducted numerous tests, all of which came back normal. When she was born, they did the first exome sequencing, which was normal. Then, in 2022, we decided to repeat the test, and a few weeks ago, we received the second exome sequencing results with a diagnosis of a mutated Rarb gene.

We were told that we are the only known case in Italy, with just over 50 cases worldwide. Our world came crashing down; we knew there was something, but we didn’t expect it to be an ultra-rare disease. After a few days of tears, we decided to search for as much information as possible on the internet and came across Cure MCOPS12.

Mia receives physiotherapy and speech therapy and does not use any medication. She has two sisters, and it’s difficult for them to accept all of this, but they love Mia immensely and try to stimulate and encourage her at every moment. As a mother, seeing them together is beautiful; it’s sibling love. At the same time, I want to spare her two older sisters from the pain of knowing the world of rare diseases.