Local musicians to play benefit concert for baby girl stricken with rare disease
In 2017, Dan Redfield and Kristen Fredric welcomed a healthy baby girl into their lives. Apart from being the most beautiful thing either had seen, Ava Rose was remarkably ordinary and in good health. For a year, the happy parents enjoyed the trials of raising a newborn but at her one-year check-up, they received some alarming news.
“Her pediatrician said she wasn’t hitting her gross motor skills and developmental benchmarks,” recalls Redfield.
At the time, Ava Rose was given a blanket diagnosis of cerebral palsy. Redfield says that hearing those words was difficult, but it wasn’t the end of the world. Ava Rose was enrolled in physical therapy and for four months she seemed to be progressing—and then she stopped.
“At the time we just thought maybe she was having a bad day or didn’t get enough sleep the night before. It wasn’t until a few months later that we realized something was really wrong,” says Redfield.
As a videographer, Redfield has a special connection and understanding of light. So, when he noticed that Ava Rose was no longer responding to lighting changes, he suspected something wasn’t right.
“I would turn the lights in her room off and on and her pupils would stay dilated as if they were trying to find the light in a dark room. It was obvious that her eyes couldn’t track movement anymore—if you made eye contact with her and quietly moved around, she wouldn’t follow you,” explained Redfield.
Responding to what they thought may be blindness, Redfield and Fredric took their daughter to an optometrist. Upon examination, Ava Rose presented with a telltale sign of a rare genetic mutation. A pin-sized cherry red dot on her retina meant that she had Tay-Sachs disease.
Having seen the dot on one other patient, 22 years prior, Ava Rose’s optometrist was certain of her diagnosis.
“Getting the cerebral palsy diagnosis was pretty tough because we had to come to terms with her life being limited moving forward. Once we got the optometrist’s diagnosis and confirmed it with genetic testing, we were completely devastated,” says Redfield.
Tay-Sachs disease is a genetic disorder that destroys the nerve cells in the brain and spinal cord.
“These are genetic conditions so while those children may appear normal and healthy at birth, children with Tay-Sachs will begin to stop meeting their milestones at approximately the six-month age range. From that point on, it is a complete and total regression until death. These children will become blind and paralyzed and will lose all of their mental cognition and they will suffer seizures daily,” explains Tay-Sachs and Allied Diseases Family Conference coordinator Becky Benson.
Predominantly seen in the Ashkenazi Jewish, French Canadian and Cajun populations, Tay-Sachs is rare in the general population.
Neither Redfield or Fredric have Jewish or French heritage, but they were both carriers of the mutation. Still, they only had a 25 percent chance of having an affected offspring.
“I mean, when you think about the odds of both of us being carriers and somehow meeting each other and then you factor in us actually procreating and still having a seventy-five percent chance of having an unaffected child, it’s just mind-blowing,” says Redfield.
With no cure, caring for a child with Tay-Sachs is focused primarily on support. Currently, Ava Rose is hooked-up to a feeding tube that goes directly into her small intestines. She receives all of her nutrition and anti-seizure medication through the tube that remains attached twenty-three hours a day.
As anti-seizure medication can have sedative properties, Redfield and Fredric walk a tightrope with dosing.
“We don’t want to sedate her to the point where we mute her personality. Every once and a while when she’s not having seizures, she’ll let out a laugh or a smile and we don’t want to lose that stuff,” explains Redfield.
According to Redfield, Ava Rose can have anywhere from four to twelve seizures a day.
Because caring for Ava Rose can be so labor-intensive, Redfield and Fredric have employed the help of an on-site nurse who will spend upwards of 12 hours a day with the toddler. Although the couple’s insurance helps to cover a portion of the medical costs, the family still faces seemingly insurmountable bills.
“I’ve known Kristen and Dan for a long time and while I can’t directly help them care for Ava Rose, I figured maybe I could help in another way,” explains Steven Cornfield.
The bassist for the Alaskan rock band, Thera, Cornfield has spent the last few months organizing a fundraising concert to support the family. Featuring music by Thera and the Eternal Cowboys, the fundraiser which will take place at Williwaw this Saturday. It will also have giveaways courtesy of local businesses.
“The thing that I love about Alaska is that when you need help, people always step up! Like, it was not hard to get buy-in from places like Kaladi Brothers, the 49th Supply Company, Double Shovel Cider Company, and Williwaw,” says Cornfield.
Fundraising won’t save Ava Rose’s life, but it may give Redfield and Fredric the peace of mind to enjoy what time they have left with their remarkable daughter.
“The average life expectancy with Tay-Sachs is two to five years old,” says Redfield. “We don’t get a lot of good days when Ava Rose isn’t wiped out from the seizures but when we do, we are really quick to grab our phones and capture it. Sometimes Kristen will get Ava Rose excited when I come home from work and I can just pick Ava Rose up and spin her around the living room—she gets so spun up feeling the wind in her hair that she’ll smile and coo. Those are the moments we live for.”