Hailey Knecht loves to cook, and the 16-year-old rural Pocahontas girl hopes to one day open her own bakery and join the likes of some of the culinary legends — Rachel Ray, Paula Dean, and Jennifer Esposito — that she counts among her personal friends.
But it’s another kind of fame for which she is truly hoping. The potential fan base isn’t near as large, but their devotion would be eternal.
Hailey is one of a handful of people on the planet with Alexander’s disease, a neurological disorder caused by changes to the glial fibrillary acidic protein (GFAP) in the brain. The disease disrupts the production of myelin, or “white matter,” that insulates nerves and helps speed transmission of rapid nerve signals.
The disease leads to impairment of the nervous system. It’s always fatal.
It’s also rare. Only about 500 cases have been reported since the disorder was first described in 1949.
Hailey was diagnosed at age 6 — the same age research shows young children with the disease tend not to live passed.
“That was probably the worst day of my life,” her mother, Dawn, said. “So we took her home and we cried. We cried for days.”
But Hailey is a fighter.
“If she wasn’t as tough as she is, she would not be here. She has a determination and a will. She might be tiny, but she is fierce,” her mother said.
On Jan. 21, Hailey celebrated her 16th birthday. The magical occasion had a fairytale theme. Hailey waltzed into her party in a floor-length pink dress, bedazzled with jewels. She was met by her two favorite Disney princesses, Anna and Elsa, and over a 100 friends and family watched Hailey was crowned “Princess of Pocahontas.”
In addition to her daughter’s spirit, Dawn attributes Hailey’s remarkable resilience to a lot of love and prayers from others, as well as a special diet. Always undersized for her age, Hailey now weighs over 90 pounds, the heaviest she’s ever been.
And research into her condition has been promising of late, and it’s hoped that, with her help, Alexander’s disease could one day be solved by Hailey’s cure.
“I can envision her healed,” Dawn said.
With that goal in mind, Hailey and Dawn will be flying to Philadelphia next week for Hailey to participate in the second round of the first natural history study of Alexander’s disease.
The study is a collaboration between Dr. Albee Messing, one of the world’s leading researchers in the area of leukodystrophies, a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves, and Dr. Amy Waldman, the medical director of the Leukodystrophy Center and pediatric neurologist at the Children’s Hospital of Philadelphia.
Hailey has already participated in the study once. This time around, she will undergo brain magnetic resonance imaging to track the progression of the disease. She will also see a neurologist, a pulmonary team, as well as physical and occupational therapists and will undergo a speech and swallow study.
Messing said that the study has already led to scientists to such breakthroughs in understanding of the disease that they are now ready focus on the next step in the process — searching for ways to halt the production of GFAP. In turn, that could lead to a human clinical trial. Though, he said, that is likely at least a couple years away.
But while the clinical trial could be a ways off, Messing said takeaways from the research have provided insights into other mysteries of the nervous system, as well as other diseases, such as Parkinson’s and Alzheimer’s.
“I think Alexander’s disease is a window into certain parts of our nervous system,” Messing said. “It’s giving us a clue about what this protein means to the brain.”
Dawn said that she considers these developments “miraculous,” because she was told a treatment would not be seen in her lifetime, let alone her child’s. And she is determined to get Hailey into the human clinical trial, when it comes around.
“She is going to get this treatment, and she is going to be healed,” Dawn said.
Dawn created a Facebook page called Hailey’s Life with Alexander’s Disease, to spread awareness and connect families affected by the disease, enlarging what she calls her “Alexander’s Disease family.”
- Absolutely loves cooking and camping
- Dreams of opening a bakery called “Hailey’s” where she will bake and sell gluten-free cupcakes and cookies
- Rachel Ray and Paula Dean have sent her signed cookbooks
- She is a little shy, but it does not stop her from talking about what she loves
- Daughter of Craig and Dawn Knecht