Parents: Barbara and Gabriele
Year of Birth: 2021
Hometown & Country: Italy

A Message from Mia’s Parents:

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.

As of today, Mia is almost two years old. She eats on her own, even in small pieces, and no longer needs oxygen and a computer because fortunately, her saturation improved in her first year of life. The major challenge remains at the motor level because Mia can roll but can’t crawl or walk on all fours. She can kneel in her crib, sit up for a long time while playing, coloring or watching TV, but she can’t sit up on her own – we have to place her in a seated position.

Despite being born at 4 kg and eating regularly and often, Mia has gained very little weight; she now weighs just under 11 kg. Weight gain has always been a problem because even though she eats, it seems like she doesn’t absorb nutrients properly, and she’s still below the growth charts. Mia can say a few words (mom, dad, grandparents, thank you, her sisters’ names, and other common words), she recognizes colors, shapes, and animals and imitates their sounds. She seems to understand what’s being said to her and responds with yes or no when she wants or doesn’t want something. She’s a real handful! She wants to do many things, but her hypotonia holds her back, which frustrates her.

We decided to enroll her in school because we noticed she tries to imitate her older sisters a lot. For example, when they dance, she starts dancing in her high chair, moving her arms and head and singing. Our hope is that other children will stimulate her in some way, and she’s happy to go there. As of today, Mia is a happy child who laughs and smiles a lot. She loves dolls, feeds them, and cuddles them, but what she loves most of all are puppies. She could spend hours playing with her grandparents’ and aunt/uncle’s puppies.

What are our Dreams for Mia?

Our hope is that one day Mia can walk, have as independent a life as possible, and we hope for a cure to enable her and other children in the group, and beyond, to be happy and self-reliant even as they grow up.


Be a part of helping us find treatment options and ultimately a cure for every MCOPS12 Patient Worldwide! ​

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Cure MCOPS12 in collaboration with A Cure for Sophia and Friends have launched a new Crowdfunding Campaign via Classy! Donate TODAY and Be a Champion for a Cure!