It is a disease that most people have never heard of – pyruvate dehydrogenase complex deficiency.
It is certainly a disease that Jillian Austin and Trent Neely had never heard of before. That is, until their daughter, Aubrey Neely, was diagnosed with it.
“She was about 10 months old when she had her first seizure,” which led to testing and the diagnosis of the disease, said Austin.
As Austin explained, the disease is a mitochondrial disease, which means Aubrey’s body cannot process carbohydrates.
“She basically can’t produce energy. She is on a very limited diet; it is called a ketogenic diet and is sort of an Atkins diet,” she said.
Now 3 years old, Aubrey is unable to walk, doesn’t talk, has low muscle tone and has to take numerous medications, many to control her seizures.
“She was having up to 40 seizures a day, but now we have her down to none,” said Austin.
Austin said that in about 25 percent of the cases, the disease is genetic; 75 percent of the time, it is a gene mutation. According to Austin, neither she nor Neely has tested positive for the gene.
“For some reason, there are also children who seem to have it with no explanation, and Aubrey is one of them,” she said. Aubrey’s twin brother, Anthony, shows no signs of the disease.
After Aubrey was diagnosed, the Cranberry couple’s life changed. Austin devotes much of her time to Aubrey’s care.
“Fortunately, we are in a position where I don’t have to work outside of the home, so I can spend my time taking care of her and helping with her treatment,” she said.
They also have a strong network of friends and family. One of those friends is the impetus behind the Aubrey’s Cut-A-Thon, an event held at in Wexford to raise money and awareness for the United Mitochondrial Disease Foundation. Austin’s best friend, Patrice Deshantz, is a stylist at the salon.
“When she offered to help by doing a cut-a-thon, I was overcome with joy and gratitude,” said Austin. This is the third year the salon will play host to the cut-a-thon.
Lauren Loveland, a stylist, colorist and the event coordinator at the salon, is overseeing the event this year.
“We love doing the cut-a-thon and have so many people come to support the event,” she said. Loveland has been working hard to gather donations for the numerous raffle items and other prizes.
“We should have over 20 baskets, and visitors can also expect food and other prizes,” said Loveland.
The event is held on a Sunday because the salon is usually closed, and all of the participating stylists donate their time to the cause. Thanks to the generosity of salon owner and the stylists, more than $7,000 has been raised for UMDF in the first two cut-a-thons.
“We are hoping to raise over $5,000 this year,” said Loveland.
The costs of the haircuts along with raffle ticket sales will be donated to UMDF. The stylists also donate all of their tips.
“Their generosity is really amazing. We can’t thank them enough,” said Austin.
In the meantime, Austin and Neely remain positive that advances will be made to assist Aubrey and others who have the disease.
“Right now, there are no good outcomes, but with money to help fund research and more clinical trials, maybe that will help,” said Austin.
Aubrey’s Cut-a-thon will be from 11 a.m. to 3 p.m. Sunday at Harmony Salon, 11269 Perry Highway in Wexford. Men's cuts are $20; women's cuts cost $30; and cuts for those 12 and younger are $18.
Harmony Salon will feature a 20-percent off sale on all products. Walk-ins only, and payment is by cash or check. All proceeds benefit the United Mitochondrial Disease Foundation.
For more information about UMDF, visit the United Mitochondrial Disease Foundation, 8085 Saltsburg Road, Suite 201, Pittsburgh, or call 1-800-317-UMDF or visit www.umdf.org.