She suffers from what doctors believe is mitochondrial disease, but the blood test needed to confirm the diagnosis costs $2,000, and a muscle biopsy needed to determine the variation of the disease costs $18,000. The Stone family has petitioned their insurance company to cover the costs, but they’ve been denied three times.
“It feels like we’re hunting this ghost,” said Sydney’s mother Debi. “We’re hunting for the root of her illness, but it keeps evading us. The doctors are almost certain that she has mitochondrial disease, but the tests will confirm it and then we can proceed with a more specific treatment.”
Sydney suffers from tracheomalacia (weakness of the windpipe), vertigo, cyclical vomiting syndrome and tachycardia (abnormally quick heart rate). All these symptoms are signs of mitochondrial disease, an incurable condition that affects the mitochondria in cells that help power the body. It’s not one disease, but a group of metabolic diseases that affect multiple organ systems.
Sydney also suffers from migraines, asthma, gastrointestinal problems and muscle pain and weakness. Debi said on a good day, Sydney’s pain level is between four and six, but most of the time she deals with pain in the seven to nine range.
“When she was little, I knew she was sick, but since I was a new mom, the doctors told me I was being overprotective, so I believed them,” Debi said. “Sydney collapsed when she was 4. The doctors said she had asthma, but I knew deep down there was more to it.”
It wasn’t until 2004, during yet another hospital visit, when Debi’s suspicions were confirmed. A tumor that Sydney had probably developed since birth was removed from her chest, but not before it had deformed her windpipe. Since the baseball-sized tumor’s removal, Sydney has been under the care of seven specialists who are doing their best to manage her disease and prevent it from progressing and further damaging her cells.
“Sydney is a quiet and peaceful girl,” Debi said of her daughter. “She has this grace and loving spirit. She works her way into your heart without you even realizing it. She’s a joy to be around, but she’s 12. She’s just a little girl and she’s been through too much.”
In the past six years, Sydney has undergone two surgeries, 27 sedations, countless MRIs, CT scans, lung tests, swallow studies, angiograms and hospital visits. Debi quit her job to be with Sydney and take her to doctor’s appointments and monitor her health. Sydney’s father was laid off, so the family, which includes Sammy, 10, and Sierra, 7, struggles to get by on unemployment compensation.
After coping with Sydney’s disease privately for many years, the Stone family has launched Sydney’s Journey, a movement to garner awareness for mitochondrial disease, and members of the community are planning a spaghetti feed fundraiser to help the family raise the money needed to pay for the tests Sydney needs to secure a diagnosis.
“We’re hosting this event for two reasons,” Debi explained. “First, it is a fundraiser, but we want this event to raise awareness for mitochondrial disease. It’s known as an orphan disease because there aren’t any big foundations or research centers looking for new treatments or a cure. But you don’t have to have a designer-brand disease to need help. All sick children deserve a support group that is working to get them well. Even childhood arthritis has more support than mitochondrial disease. We need federal funding to find a cure. We need awareness.”
Since little is known about the disease, it’s hard to determine its cause or the prognosis for patients affected by it. According to the United Mitochondrial Disease Foundation, the only organization of its kind promoting awareness for the rare disorder, some children and adults suffering from the disease are able to live fairly normal lives, but children severely affected might not survive their teen years, a reality the Stone family is well aware of.
“She is terminal,” Debi said. “She knows that, but we try not to talk about it. We just want to give her the best quality of life for each day that we have her.”
The Sydney’s Journey Spaghetti Feed Fundraiser will be held Friday, Jan. 14, 2011 at 5:30 p.m. in Brentwood Neighborhood Church, 50 Birch St. Tickets are $10. The event includes a raffle, an auction, music, an open mic and a loose-change drive. For more information, call Debi at 541-228-7075 or e-mail firstname.lastname@example.org. To follow Sydney’s Journey, visit www.helpsydney.info.