Welcome! We are a family of four, living in Milan, Italy. Alice is our second daughter, born in 1998, who has been recently diagnosed 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 for this, on the other hand we were still without a diagnosis. Instrumental tests (MRI) detected a reduced myelination and a thin corpus callosum, that were “signs” of some syndromic scenario, though not specifically identified.  Meanwhile Alice was growing, making progress at her own pace, like getting up at 18 months, walking just before aging 3, and start using consistently some words that were her small vocabulary. 

Along the years (thanks my wife Mara!) we restlessly consulted all possible specialists, teams and organizations until in 2018 we hit a research connected to Dr. Platzer, that eventually led to the MAPK8IP3 variant diagnosis.

As of today, her clinical issues are a central visual impairment and myopia, hypothyroidism, overweight, hypercholesterolemia.

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 the practical, everyday life. She is capable of counting up to a few units, read single letters, numbers and some short words; while she is not able to write and deal with theoretical matters like mathematics etc. She is very fond of electronic devices like smartphones, tablets, and by using icons she’s able to autonomously open apps and browse contents like photos, cartoons on YouTube etc.

Alice has a very good understanding of what is being said, including implied and double meaning, as long as the matter is not about conceptual, theoretical stuff. She is always eager to communicate using her small set of words and symbol tables; but her real gift is a great empathy and her natural, innate ability to immediately get in touch with people.

As of today, Alice is attending a Special Educational Center from Monday to Friday, to improve her practical abilities and social behaviors, like cooking, cutting, drawing, collaborating with teammates, performing tasks for the community, etc. Hopefully this activity should increase at some extent her autonomy, though she will always need assistance and supervision.