Alice's Story
Welcome! We are a family of four, living in Milan, Italy. Alice is our second daughter, born in 1998, who has been recently diagnosed with the MAPK8IP3 gene variant.
During her first months, Alice frequently suffered from digestive problems (gastroesophageal reflux). She was quite restless and we were gradually realizing that the reflux might not be the only reason for her to lack most of the coordination and concentration that we noted in her older sister at that age. As she was 11–12 months, we started genetic investigations, as her milestones were appearing more and more delayed.
The most relevant genetic tests were executed quite soon, excluding some severe known syndromes. Though we were a bit relieved, we were still without a diagnosis. MRI tests detected reduced myelination and a thin corpus callosum—signs of a syndromic scenario, though not specifically identified.
The Clinical Path
Meanwhile Alice was growing and making progress at her own pace: getting up at 18 months, walking just before age three, and gradually using words from her small vocabulary.
Over the years, thanks to my wife Mara, we consulted specialists, teams, and organizations until, in 2018, we found research connected to Dr. Platzer. This eventually led to Alice’s MAPK8IP3 variant diagnosis.
Today, her clinical issues include central visual impairment and myopia, hypothyroidism, overweight, and hypercholesterolemia. Alice has followed a path of continuous small achievements—building communication, increasing attention, and becoming more independent.
Alice followed a linear path of continuous, small achievements, gradually increasing attention time, losing her compelling need to swallow everything at hand, building her own set of words and gestures to communicate, and so on.
Regarding gross motor skills, Alice has been always confident with water, becoming able to swim without lifebuoys before eight; as of today, she can walk confidently on regular surfaces and staircases, tries running (but it is more of a quick walk), stand up on tiptoe but not jump.
Regarding cognitive abilities, Alice has a good understanding of needs, situations and dynamics of practical, everyday life. She is capable of counting up to a few units, reading single letters, numbers and some short words; while she is not able to write or deal with theoretical matters like mathematics. She is very fond of electronic devices like smartphones and tablets, and by using icons she can autonomously open apps and browse photos, cartoons on YouTube, and more.
Alice has a very good understanding of what is being said, including implied and double meaning, as long as the matter is not conceptual or theoretical. She is always eager to communicate using her small set of words and symbol tables; her real gift is her great empathy and natural ability to immediately connect with people.
Today, Alice attends a Special Educational Center from Monday to Friday to improve practical abilities and social behaviors, such as cooking, cutting, drawing, collaborating with teammates, and performing community tasks. Hopefully this activity will increase her autonomy, though she will always need assistance and supervision.
Alice attends a Special Educational Center from Monday to Friday, improving practical abilities and social behaviors such as cooking, drawing, teamwork, and community tasks. These activities support her growing autonomy, though she will always need assistance and supervision.