HUWE1

HUWE1: Biking for Breakthroughs

Biking June 14th for HUWE1 research breakthroughs. Join as we pedal to progress the knowledge & understanding of HUWE1 related neurodevelopmental disorders at the leading HUWE1 lab.

100% OF DONATIONS GOES TO RESEARCH 

People with HUWE1-related genetic disorders have symptoms such as intellectual disability, epilepsy, autism and feeding problems.   

ABOUT HUWE1

The HUWE1 gene is located on the X-chromosome. It holds the chemical instructions (DNA) to create a protein called E3 ubiquitin-protein ligase. This protein is present in all cells in the human body meaning that any variations or mutations in the HUWE1 gene can have significant effects throughout the body. Understanding of the role of the HUWE1 gene is still developing. Research indicates it has a role in controlling the release of neurotransmitters and in the formation of neurons in the developing brain.

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 around 100 people who have been diagnosed in 24 countries worldwide - HUWE1-related disorders are rare, but everywhere.   

Many children diagnosed with HUWE1 genetic variants experience intense, regular seizures, which can be one of the biggest challenges for families to manage. Others live life nonverbal, with significant intellectual disability or an autism diagnosis.

HUWE1-related diagnoses are still extremely rare but with access to genetic testing increasing, new families are diagnosed frequently.

OUR HUWE1 STORY

Starting 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, tough and frustrating.  

Our sweet, loving baby started having feeding issues which lead to Early Invention Services.  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 at the end of the day, what did all this mean? Why, with so much support, was Rosalie consistently missing her milestones? Was there any explanation? Any reason other than "she is just delayed?"

Fast forward through some twists and turns (skipping through the multitude of medical specialists, tests, and 7 weekly therapies) and arrive at late 2022 when Rosalie was around 18 month.  We received a report that made us hit the pause button starting global developmental delays. After processing that, all we had was a catch all but still the question of why / how / what is the cause remained unfulfilled. Enter genetic testing and not just a simple, check of a few genes. Early 2023, Rosalie met with Dr. Baranano of John Hopkins - a pediatric neurologist and neurogeneticist who specializes in the diagnosis and management of rare neurologic disorders with a genetic basis. And luckily after the completion of whole exome sequencing genetic testing, we found out that Rosalie was certainly a rare gem such that she was now 1 of 100 to be diagnosed globally with HUWE1 related neurological disorder.

HUWE...WHAT? 

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.  And thankfully Dr. Brock Grill at Seattle Children's and Dr. Kristin Baranano at Johns Hopkins have been studying HUWE1 so the hope for some bright light got a little brighter.

But that is where you come in to our story.  We need your help in funding more research about HUWE1 and what this means with global developmental delays.  The spectrum of symptoms is large and sobering but with your generosity and support and people like Dr. Grill and Dr. Baranano, tomorrow shines brighter.  

LETS BIKE FOR BREAKTHROUGHS

• 100% of every donation goes to research

• Tax deductible gift

• Please note that many employers will also match your giving

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