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NEWLY DIAGNOSED WITH HUWE1?

WELCOME! YOU ARE NOT ALONE 🤍

NEWLY DIAGNOSED? WELCOME, WE WERE THERE NOT LONG AGO...

Receiving a diagnosis of a HUWE1-related neurodevelopmental disorder can be difficult, but you are not alone. We believe approximately 100 individuals have a confirmed diagnosis. Understanding of the impact of changes in the HUWE1 gene is still developing and people can vary in the range and extent of symptoms they experience such as developmental delays, intellectual disability and growth issues. Each individual with HUWE1 will have their own unique profile, challenges and strengths.

At this time, Louie's HUWE are keen to support you with information and advice. Download our latest Welcome Guide for Newly Diagnosed families and learn more about...

  • Most common symptoms from latest data in the HUWE1 RARE-X Data Collection Program and previous research

  • Clinical considerations for each symptom

  • Key resources and links

  • Information on how to get involved with our community

 

With thanks to Louie's HUWE Scientific Advisor, Dr. Kristin Barañano, for her review and input on this document.

Further information can be found on this site, including more about HUWE1, our HUWE1 RARE-X Data Collection Program and family stories.

The welcome guide is also available in Italian, on the Italian community site here: HUWE1 Italia La Community.

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