CHARLOTTE, N.C. (WBTV) - Heather McKee got news no parent wants to hear. Her 3-year-old daughter, Ella, has Vanishing White Matter Disease.
In blunt terms, this means her brain is disappearing. Empty spaces left in Ella’s brain are being replaced with water.
Ella lives in Huntersville. She is one of less than 300 cases in the world with this rare degenerative brain disease. Of those 300 cases, only 50 have a mutation on the second EIF2B gene, like Ella.
Of those 50, only ten cases are in the United States.
Needless to say, it’s hard for Heather to find places to network and people to talk with who could help her daughter.
But, she has done lots of research and this is what she knows:
- VWMD is inherited by genes from both parents.
- If both parents are carriers, a child has 25% chance of having the genetic disorder.
- Heather and her husband Jesse are both carriers.
- But, their 10-year-old son Ethan doesn’t have it.
- VWMD is a form of something called Leukodystrophy.
- Leukodystrophy describes various neurodegenerative disorders that affect white matter of the brain.
- Average life-span of someone with VWMD is 2-8 years old.
- Loss of motor function is the first noticeable symptom.
- Then, chronic deterioration.
- There is no cure.
“All those are facts,” Heather said. “Facts are helpful, but emotions are what I often get caught up in. Ella’s brain is literally disappearing and no one can tell me how quickly or how to stop it. It’s like we’re watching our daughter slowly die before our eyes.”
Heather says Ella hasn’t showed any regression. She’s in therapy five days a week to help with walking and other motor functions, and also enrolled in a language lab at Long Creek Elementary to help with her speech. Her older brother Ethan pushes her to reach milestones, and helps his family take care of her. His parents say they’re especially grateful for the positive impact he has on his sister’s difficult life.
HOPE AHEAD: There is a clinical trial that will start soon in Amsterdam. Heather and Jesse are trying to get Ella to be one of the children chosen for the trial – but it’s highly competitive. There are only 20 spots.
“Doctors are floored by her progress,” Heather says. “We are of the mindset she will be the one who beats this awful disease, or that she helps researchers find a cure.
Heather said as they wait to hear if she gets into the clinical trial, the family is going to Disney in March. They can't wait to meet Ella’s favorite princess, Ariel.
Please, please keep us updated Heather on this trial. We’d love to follow progress if you get in.
*Editor’s note: This is about one of #MollysKids, children WBTV Anchor Molly Grantham follows closely on her Facebook page. It was first published there, which is why it’s written in a personal way. For years Molly has followed hundreds of kids with uphill medical battles. Find this story and updates on all #MollysKids here.