Austin, to know him is to love him – you have never met a person that gives a bigger or better hug in your life. Austin loves his family with his whole heart – he sneaks in pets with Riley when he thinks no one is watching and he loves his balls and sticks! He is a simple guy with the biggest heart you have ever known!  If everyone in this world were like Austin – the world would be a much happier place.

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We noticed early on that Emil saw the world differently than we did – while other children wanted to romp around on the playground, he explored the flowers. He could do this for hours. No matter where we were, we couldn’t pass a single yellow flower. He liked to line up cars in our apartment with the same color scheme – no one was allowed to mess that up. Emil could speak six words and suddenly stopped speaking and never started again. This, combined with his developmental delay, sleep disorders, selective eating behavior, lack of interest in interacting with other children, and hand-flapping, led us to autism diagnostics. As part of this, a genetic test was performed and Marbach Schaaf was discovered. Some days are harder, but above all, Emil brings an incredible amount of love into our lives.

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Our son Liam was diagnosed with MASNS shortly after his 3rd birthday through genetic testing following an autism diagnosis. He has a unique point mutation in PRKAR1B that hasn’t been seen in any other patients to date.

Liam shows many of the hallmark features reported in Marbach et al., 2021, including hypotonia, global developmental delay, hyperphagia, gross and fine motor deficits, and an autism diagnosis. He is very talkative with a broad vocabulary, but it has taken time for his speech to become more conversational with less echolalia. We’ve learned that he is a ‘gestalt language processor’, and this has helped us to make significant progress with his language skills. He is also in many types of therapy, including speech, occupational, physical, and applied behavior analysis therapy. In addition to therapy, Liam attends preschool in an inclusion classroom (mixed general and special education students).

Liam is a very happy, affectionate, social kid with a charismatic, easygoing attitude! He LOVES monster trucks and playing with our neurotypical son. He also enjoys participating in soccer and dance classes through his therapy center. Liam’s biggest challenges stem from his fine motor difficulties, but he is a hard worker and has made a ton of progress through therapy!