Rare, But Everywhere: A Spotlight on Louie’s HUWE

Mothers are used to seeing a need and filling it. For most mothers, however, the need is less drastic than Elizabeth Coulter's. Her son, Louie, has a unique genetic mutation, called HUWE-1. Upon receiving the diagnosis and looking for help, Elizabeth quickly learned there was none. Well, none that focused on her son's particular mutation. Thus, Louie’s HUWE was born. 

A Wave of Diagnoses and the Birth of an Organization

Louie's story began in 2012 when he was born with a myriad of health challenges. 

"We found out soon after his birth that there was something wrong," Elizabeth explained. "He had trouble breathing and was not moving his arms and legs." 

After months of genetic tests and no definitive answers, the Coulters moved to Baltimore to try Johns Hopkins. After a few appointments, they finally had their answer: a HUWE-1 variation. The subsequent years brought a cascade of diagnoses, including hypotonia, slow growth, autism, cortical visual impairment, and epilepsy. 

"Every year has brought a new diagnosis," Elizabeth explained. After Louie's seizures became unbearable in 2021, with 54 different seizures after he was admitted at Johns Hopkins, Coulter had a pivotal conversation with Dr. Baranano, Louie's neurogeneticist. Elizabeth asked the doctor how to cure him. Her response: "Short of making a drug, there is nothing you can do." 

Resolutely, Elizabeth told the doctor, "I'll fund the cure if you can help find the researcher." Coulter filed for nonprofit status and emailed a few moms who were involved with the HUWE-1 Facebook group, which included families from all over the world. The moms all agreed to help. 

"With that, Louie's HUWE was born."

The Road to a Cure

Through Elizabeth's unwavering commitment, determination, and passion, she has formed the nonprofit organization, which dedicates itself to raising awareness and funds for children affected by the HUWE-1 gene mutation. This genetic anomaly manifests itself in various ways, causing epilepsy, autism, growth problems and delays, muscular issues, and more. 

The group has grown to include a dozen dedicated moms, all working tirelessly towards finding a cure. Currently, the organization aims to raise $250,000 for a drug trial at Seattle Children's Hospital, focusing on alleviating epilepsy and the various other maladies caused by the genetic mutation. Over the last two years, they’ve raised $100,000, but they remain a ways away from their goal.

Rare, But Everywhere

What is profoundly different about Louie's HUWE is that it is the only organization of its kind and is recognized globally. 

"We want to help every child around the globe with HUWE-1, no matter how severe their variation or how far they are," Elizabeth said. 

"Rare But Everywhere" is the organization's philosophy, reflecting their commitment to aiding every child globally affected by HUWE-1, regardless of the severity of their condition or geographical location. The organization seeks to provide hope and support to families facing the challenges of this rare genetic mutation.

And they're off to a great start. What sets Louie's HUWE apart is their remarkable commitment to ensuring that every penny raised goes directly towards finding a cure (less than 1% is allocated to overhead costs), unique in an era where administrative costs can often consume a significant portion of funds. 

Smiling Through Adversity

Elizabeth draws her inspiration from her son, Louie, who faces tremendous daily pain with an infectious smile and a content heart. Louie's favorite thing is a simple circle. 

"He will stare at a Ferris wheel all day," Elizabeth explained. "If you ever see a kid out in the community with a helmet on and no bike in sight, there's a good chance that kid is Louie," who wears a helmet to protect him from his daily dozens of seizures in case he is not caught in time. 

"Come over, say hi, and give him a hug," Elizabeth said. "Because he is non-verbal, he will give a big smile back. Although he will not be able to say it, just know that you will have made his day."

Louie's HUWE invites the community to join them for their inaugural “One in a Million” Gala on January 20, 2024 at Potomac Point Winery. Local businesses are encouraged to sponsor, and the organization is accepting tax-deductible gifts for auction. The gala promises to be a night of celebration, compassion, and a shared commitment to funding a drug trial and taking a significant step towards finding a cure and improving the lives of those affected by HUWE-1.

“We hope to reach every child with HUWE-1 in the entire world,” said Coulter, “including those who are born with HUWE-1 in Stafford today and those who will be born 50 years from now.” 

To learn more about Louie’s HUWE and purchase tickets for the Inaugural “One in a Million” Gala, visit www.huwe1.org.