Born Too Soon, Baby Everett Is Fighting a Rare Disease His Mother Refuses to Give Up On

Everett was born far earlier than his family had hoped.

Arriving at just 31 weeks, the tiny baby spent the next 143 days in a neonatal intensive care unit. What began as a premature birth soon became a much longer and more difficult medical journey.

When Everett was only eight weeks old, genetic testing gave his family an answer they had never expected.

A Diagnosis So Rare Almost No One Had Heard of It

Everett was diagnosed with a mutation in the HK1 gene, an ultra-rare genetic condition believed to affect fewer than 50 people worldwide.

The mutation affects the way his body processes energy. His cells continue breaking down sugar at an abnormal rate, creating toxic byproducts that can damage important tissues, including the blood and brain.

For Everett, the condition has meant developmental delays, frequent seizures and serious respiratory problems.

He needs a feeding tube, regular oxygen support and constant monitoring at home.

His Mother Became His Full-Time Caregiver

For Marissa, Everett’s mother, caring for her son has become a round-the-clock responsibility.

She monitors his oxygen levels, manages his seizures and prepares for the possibility that another emergency could send them back to the hospital.

There are no simple answers and, at present, no established cure for Everett’s condition.

But Marissa refuses to accept that this is where her son’s story has to end.

A Mother Searching for Something That Does Not Yet Exist

Last year, Marissa learned about researchers in Austin who were exploring the possibility of creating a personalized treatment for children with extremely rare genetic conditions.

The idea was different from conventional medicine.

Instead of searching for a treatment that already exists, researchers would work toward developing a therapy specifically designed around Everett’s genetic mutation.

For a family who had spent months hearing how little was known about their son’s disease, the possibility offered something they desperately needed: hope.

The Race to Give Everett a Chance

Developing a personalized treatment is an enormous undertaking, and bringing the potential therapy to Everett is expected to cost around $3 million.

His mother has therefore begun fundraising to help make the treatment possible.

She knows there are no guarantees. But she also knows what she sees every day when she looks at her son — a little boy who is still here, still growing and still fighting.

Doctors have warned the family that only about half of children with Everett’s specific HK1 mutation survive to the age of eight.

That statistic has not made Marissa give up. It has made her more determined.

For Now, His Mother Is Choosing Hope

Everett is now 23 months old.

His life still involves medical equipment, appointments and difficult days that most families never have to experience.

But he is also a child who is deeply loved.

His mother believes that if researchers can develop the right treatment, they may be able to change the direction of his life.

That possibility is what keeps her moving forward.

Everett’s condition may be rare, but his mother’s hope is simple: she wants her son to have more time.

More birthdays. More smiles. More ordinary days.

And perhaps one day, a childhood defined not by hospital visits and medical equipment, but by all the things he is able to experience because his family refused to stop searching for a way forward.

Source: Austin Regional Clinic