Arielle Krause

HUWE1: Biking for Breakthroughs

Biking June 13th for HUWE1 research breakthroughs. Join as we pedal to progress the knowledge & understanding of HUWE1 related neurodevelopmental disorders at the leading HUWE1 labs.

100% OF DONATIONS GOES TO RESEARCH

OUR HUWE1 STORY

After a healthy pregnancy and delivery, at 2 months we noticed something was a little different with our baby girl. It was then that Rosalie's journey to an eventual HUWE1 related diagnosis began. But it was not a linear path and most of the times it was murky, isolating, tough and frustrating.

Our sweet, loving baby started having feeding issues which led to speech therapy and physical therapy. Her amazing team of therapists helped with her feeding struggles and helped us understand that she was falling behind in her other developmental milestones. This led to more therapists and more questions. With PT, OT, Speech, and SI, Rosalie was fortunate to have a great team behind her from the early months of her life. But despite all of the extra support Rosalie continued to miss her milestones. Was there any explanation? Any reason other than "she is just delayed?"

Fast forward through months of evaluations with many different specialists, tests and 7 weekly therapies, Rosalie had full genetic testing- whole exome sequencing.  When the results came back, we learned that Rosalie has a mutation in the HUWE1 gene.  Her mutation is de novo- the mutation arose spontaneously during her gestation- and she is the only person in the world known to have this specific mutation.

At the time, there were only approximately 100 people in the world with a similar diagnosis.  With such a rare disease, there is no playbook.  Would Rosalie walk? Would she talk? Nothing was guaranteed.

ABOUT HUWE1

This genetic disorder is so rare that it doesn’t even have a formal name- just a string of letters and numbers marking the exact location of the gene.  HUWE1 is a gene location on the X-chromosome. HUWE1 provides instructions for making protein that helps regulate how cells grow, divide, and function- especially in the developing brain.  This protein plays a role in controlling other proteins involved in neural development, learning and cellular stability. When HUWE1 is altered, these processes can be disrupted, which can affect neurological development, communication, growth and sensory regulation.

People with HUWE1-related disorders are affected by mutations in the HUWE1 gene and may have intellectual disability, epilepsy, autism spectrum disorder, feeding issues and many other medical issues. We are aware of approximately 125 people who have been diagnosed in 24 countries worldwide - HUWE1-related disorders are extremely rare, but everywhere.

RESEARCH NEEDED

While we were lucky in the fact that genetic testing gave us a name, a why, a what...but when your child is one of the early ones to be diagnosed, you quickly learn that the road ahead is not a clear one...but thankfully research could help bring a little light.

But that is where you come into our story. We need your help in funding more research about HUWE1 and what this means. The spectrum of symptoms is large and sobering but with your generosity and support, tomorrow shines brighter.

LETS BIKE FOR BREAKTHROUGHS

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The difference you can make is immeasurable. Thank you for your support!