Three-year-old Kelly Cogswell may not know how to read, but she is rewriting the book on a genetic disease that has defined her entire life.
In November 2006, the little girl was diagnosed with mitochondrial disease. She was given no more than three to four months to live.
Today, more than two years after that prognosis, Kelly is still waging a battle against the illness.
“She has been a fighter from the beginning,” said the little girl’s mother, Sue Cogswell. “Her doctors refuse to give me time frames anymore, because she’s beat them all.”
Mitochondrial disease occurs when mitochondria, which are responsible for creating the energy the body’s cells need to sustain life and support growth, fail to do their job, resulting in the eventual death of the cell and eventually entire cell systems.
Kelly’s particular form of mitochondrial disease is known as Leigh’s syndrome, which affects her ability to eat, speak and breathe. She also has little head or trunk control and cannot walk.
“But she is very social. She smiles and laughs and recognizes people and voices,” said Sue Cogswell, a registered nurse who has had to quit her job to care for her daughter. “She’s very nosy and loves to talk on the phone.”
Tomorrow night, the Cogswell family will be the beneficiaries of the Brick Township Policemen’s BenevolentAssociation’s 20th annual “Helping Hands Benefit Basketball Game.” The game pits the members of the Brick Township Police Department against the Brick Township High School Green Dragon football team.
“We’re overwhelmed by the generosity of it all,” said Andy Cogswell, who works as Brick Township Police Department EMT. “Kelly’s illness has had a huge impact on our finances. We’re so appreciative.”
Sue Cogswell said she noticed that her daughter was having a difficult time at feeding time shortly after her birth in November 2005.
“When I was nursing her or giving her a bottle, I noticed her tongue wasn’t moving up the way it should to suck correctly,” she said. “She was also spitting up a lot.”
In January 2006, Kelly was diagnosed with ankyloglossia, known as tongue-tie, and underwent surgery to correct the problem.
“The surgeon told me that as soon as she came out of the anesthesia I’d be able to feed her and she’d do so much better,” Sue Cogswell said. “When I went home and gave her a bottle, it didn’t take. The surgeon, who was pretty well known, was stumped.”
Sue Cogswell would go on to nurse Kelly for a whole year and took her to speech therapy three times a week to help her learn to drink out of a special cup and learn special techniques to feed her from a spoon.
Kelly’s speech therapists became concerned that she wasn’t holding her head and neck up and recommended that she receive occupational therapy as well.
“We just thought she was just a little developmentally delayed,” Sue Cogswell said. “Just before her first birthday, she was able to rock on her knees like she was getting ready to crawl.”
But in October 2006, Kelly’s parents noticed that their daughter’s left eye was straying up and out.
They took her to an appointment with an eye doctor the day before her first birthday. That’s when the young couple learned that something was seriously wrong with their little girl.
“I said to the doctor, ‘I’m a nurse. Don’t sugarcoat it,’” Sue Cogswell said. “He said, ‘There is something neurologically wrong with your daughter. It looks like she may have had a stroke in utero or shortly after birth, or she may have mild cerebral palsy.”
The pediatric ophthalmologist made an appointment for Kelly to see a neuropthamologist at Children’s Hospital of Philadelphia (CHOP) on Nov. 9, 2006.
“When I went home, I called my pediatrician and told him something was seriously wrong with Kelly and he sent us to get an MRI immediately,” Sue Cogswell said.
Kelly underwent an MRI at their local hospital, which indicated that she had some type of severe brain damage.
The doctors and radiologists told the Cogswells that Kelly’s brain damage had the appearance of carbon monoxide or chemical poisoning.
“I was beside myself,” Sue Cogswell said. “I couldn’t believe what they were telling me.”
The following week, Sue Cogswell and Kelly were at CHOP, where Kelly was examined by a neuropthamologist, who determined that Kelly was partially blind in her right eye.
After looking at Kelly’s MRI, the neuropthamologist sent them immediately to a neurologist at CHOP.
“I knew it was bad,” Sue Cogswell said. “He wouldn’t look me in the face. He didn’t say anything.”
After the neurologist studied Kelly’s MRI, he closed his eyes and put his head down, Sue Cogswell recalled.
It was the neurologist at CHOP who delivered the mitochondrial disease diagnosis.
“I didn’t break down. The nurse in me came out. I thought, “OK. Where do we go? What do we do to fix this?” she said.
Kelly immediately underwent a battery of tests at CHOP and was started on the “mito-cocktail,” a combination of vitamins, supplements and other medications.
Over the next three months, Kelly’s condition didn’t worsen. But by March 2007, she was characterized as failure to thrive. She really wasn’t eating and her reflux was getting worse.
Sue and Andy Cogswell made the agonizing decision to have a gastrointestinal feeding tube surgically inserted into their daughter’s abdomen.
“We were between a rock and a hard place,” Sue Cogswell said. “Anesthesia can kill patients with mitochondrial disease. They may never wake up.”
Thankfully, Kelly came through the surgery.
Then, on Christmas Eve 2007, Sue Cogswell noticed that Kelly was winking her right eye and her face was twitching.
On the day after Christmas, she raced back to CHOP where doctors confirmed, with another MRI, that Kelly had suffered a stroke. The MRI showed a huge black dot on the left side of her brain.
“The cells in her brain were dying,” Sue Cogswell said. “It was a major stroke.”
Seizures are another symptom of Leigh’s syndrome and Kelly was put on anti-seizure medication to control them.
In August 2008, the Cogswell family learned that the type of mitochondrial disease that Kelly has is maternally inherited, which means that Sue Cogswell, her 6-yearold son, A.J., and her mother may have the disease, though they exhibit no symptoms now.
“Maybe our bodies adapted or it’s too early to tell,” said Sue Cogswell. “There’s no rhyme or reason to it. But the earlier symptoms come out, as in Kelly’s case, the less time you have.”
Today, Kelly continues to fight mitochondrial disease. She attends the Lakeview School in Edison daily and went to Walt Disney World, courtesy of the Make-AWish Foundation, in December.
The Cogswells’ insurance company also recently approved 24-hour nursing care for Kelly, who requires suction throughout the night.
“It has allowed me to be a mother again,” Sue Cogswell said. “For a long time, I have been nurse, dietician and advocate. My son has had to grow up very fast.”
Sue Cogswell has also become very involved in the local chapter of the United Mitochondrial Disease Foundation and has found strength in support groups.
“As a nurse, I had to advocate for my patients,” she said. “As a mother, I have to advocate for my daughter. Her life depends on it.”
The Helping Hands Benefit Basketball Game will tip off at 7:30 p.m. at Brick Township High School, Chambers Bridge Road. Tickets are $3 for adults and $2 for children.
To make a monetary donation, please make checks payable to the “Kelly Cogswell Fund” and mail to the Brick Township Police Department, c/o Officer Rick Nelson, Jr., 401 Chambers Bridge Road, Brick, NJ 08723.
For further information, contact 732- 262-4708.