Creating hope in the face of the horrific

By ROBIN CAUDELL
Staff Writer

July 20, 2008 04:00 am

— Girl. Lori Burnell. Played soccer, volleyball and ran track at Beekmantown Central School.
Boy. Matt Sames. Attended Plattsburgh High School and played football, basketball and baseball.
Though at rival schools, girl and boy knew of each other but "met" the summer of 1990 at Woodstock's in Plattsburgh. Matt, an English major, had graduated from Le Moyne College in Syracuse. Lori was majoring in economics at St. Michael's College in Winooski.
They dated a bit that summer and the next. They married in 1997. Their wedding was at St. Mary's of the Lake Church on Cumberland Head. Their reception was at the Elks Club on Cumberland Avenue in Plattsburgh.
"Our wedding was like the most special day," Lori said. "All of our friends and family were together under one roof. We thought the whole day, we would never again have all these people who are so special in our lives together."
Matt's career took them to Buffalo, where their first daughter, Madison, was born in 1999. When she was 7 months old, the Sameses relocated from Buffalo to Clifton Park as a result of another transfer. Lori continued to telecommute for IDX, a health-care computer-software company.
When second daughter, Reagan was born in 2001, Lori decided to become a stay-at-home mom. Three years later, daughter number three, Hannah, was born.
"She was a completely healthy girl and met all her infant milestones," Lori said. "We had no health concerns."
MYSTERY CONDITION
When she was 2 and a half, Hannah's left arch rolled inward. Her parents took her to an orthopedist and podiatrist, who both pronounced the child fine. By the time Hannah was 3, both arches rolled inward and were collapsing.
"Her gait had become awkward."
Hannah's pediatrist put her through a rigorous physical exam and concluded, "That's just Hannah."
Lori's sister-in-law, Sarah, an occupational therapist, thought differently when she visited from California.
"She was very upset with Hannah's gait and thought she had a neuro-muscular problem going on."
On her cell phone, Sarah videoed Hannah walking and running and showed it to a physical-therapist colleague, who said Hannah's gait was like a child with muscular dystrophy. Hannah needed a neurological workup.
Hannah's pediatrician made a referral to pediatric neurologist Dr. Timothy Foster. Hannah also saw Dr. Darius Adams, a pediatric geneticist. After tons of testing, results still came back normal. Yet, Hannah had no reflex response from the knee down. Dr. Foster knew she had some type of peripheral neuropathy.
"He went and got this huge textbook and brought it in the room and flipped to the neuropathy section and started turning pages," Lori said.
He stopped at a picture of a skinny boy with kinky hair and AFO braces just below the knee. The boy had giant axonal neuropathy (GAN). Though Foster thought this was Hannah's condition, he referred the Sameses to Columbia Presbyterian Children's Hospital in New York City. Foster's diagnosis was confirmed by a nerve biopsy.
ORPHAN DISEASE
GAN. What is it? Why? How?
"We knew it wasn't good," Lori said. "We had no idea. We didn't know how grim a diagnosis this was until we met with our local geneticist and genetic counselor three days later. There are no treatments, no cure, no clinical trials, very little funding and no ongoing research for this disease. It's considered an orphan disease. It doesn't impact enough people to gain national attention. However, that doesn't make it insignificant."
GAN is present in the population of every country, though its actually incidence is unknown because of misdiagnosis. Often, orthopedic surgeons perform unnecessary and counterproductive procedures on the ankles and arches of people with GAN.
Lori and Matt were both carriers of the disease and didn't know it, each passing a mutated recessive gene on Hannah's 16th chromosome. There was a 25 percent chance that their offspring would be born with GAN. There is a two in three chance that Hannah's older sisters, Madison and Reagan, are carriers.
"It's still unfathomable to me that my child has a terminal illness for which Western medicine has nothing for her," Lori said. "It was amazing to me that we, all healthy humans, carry four to five mutated, recessive genes. The disease surfaces when you marry someone that has the same mutated gene. All the million of genes we have, talk about bad luck. Drawing the short straw."
HANNAH'S HOPE FUND
Matt compared it to a reverse lottery. Really crazy. A total nightmare.
For three days after the diagnosis, he couldn't get out of bed. He barely got through the day.
But then, he said, "I realized someone had to be the first to be cured, and why not Hannah? We realized very quickly no one was going to help us. We had to help ourselves."
"We have to work full-time to try to save her life overnight," Lori said. "She has a lot of good years left before it starts to hit her central nervous system. We have time."
Inspired by the example of Jim and Jill Kelly and their families, who established Hunter's Hope Organization for Krabbe Disease, the Sameses' family and friends mobilized to create Hannah's Hope Fund.
"We hope what we're doing not only brings the experts together but the families," Matt said. "These GAN families that we connected with have been all by themselves. Islands. For the first time, we're creating a network and support group and, most importantly, we're focusing our energies on a treatment and a cure."
He describes his daughter as a bubbly and magnetic sweetheart with cherub cheeks, big brown eyes and beautiful blonde, curly hair.
"She is very sweet and loving," Matt said. "She loves to dance. She wants to play softball with her sisters when she gets bigger. She wants to play soccer."
Her favorite colors are pink and purple. She loves salt-and-vinegar potato chips, even for breakfast, and fried eggs and cheese pizza.
"She loves playing little tricks on her father," Matt said. "She gets a big kick out of that. She will hide behind my chair and jump out and try to scare me. She'll play hide-and-seek. She loves Dora the Explorer.' She loves watching The Wiggles.' She's just getting into Hannah Montana.'"
Spurred by Hannah's Hope Fund, the world's first-ever GAN Symposium will be held Aug. 14 and 15 at Boston Children's Hospital.
"Now we're waiting for our philanthropic angel, someone who needs a cause to get passionate about and make a difference in the lives of children," Lori said. "This is the organization for them. Hannah's very special. The stories of the families are special. Up until now, they have been alone. This is as horrific a disease as it goes out there.
"We have time to make a difference in the lives of so many, but we need people to help us."
rcaudell@pressrepublican.com

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