This is a printer-friendly version of an article from Zip06.com.08/21/2013 12:00 AM
When her younger daughter Jane, now 6, was diagnosed with neurofibromatosis at six months old, North Madison resident Kristy Rath felt helpless. Neurofibromatosis (NF) is a condition in which cells covering the body's nerves form tumors that can grow quite large.
"Some people have it and never have any problems," Kristy explains, "and other people can develop severe tumors. NF can be associated with bone abnormalities, learning disabilities, certain types of cancer, and certain skin conditions. My daughter has a large tumor on her jaw that affects her speech, swallowing, vision, and hearing."
Kristy proudly describes Jane as "oblivious" to her condition-a happy, well-adjusted girl looking forward to starting 1st grade soon. She flips through photos on her phone showing a cute little girl with a bob haircut and an impish smile.
The uncommon genetic disease is hereditary in about half of all cases. There is currently no cure, and no effective way to treat symptoms.
"I'm a physician and the only reason I had heard of it was from med school years ago," Kristy comments. "I think after [Jane's] diagnosis I was feeling helpless because there aren't a whole lot of good treatments for NF."
Kristy continues, "They can do surgery, but [in Jane's case] the tumor covers her facial nerve, so she'd be paralyzed on that side. It's not cancerous in that it doesn't metastasize, but it's invasive, meaning it attaches itself to things so, even with surgery, you could never get it all out, and then it could recur."
So Jane's doctors are trying everything they can to avoid surgery.
"She's been on two different clinical trials," Kristy says. "For about two years we went down to Washington, D.C., for treatment every four months. It was a shot she'd get once a week called Interferon. It did slow the tumor down for about a year, but then it started growing again. Now we're going to Indiana University every six months. She's taking an oral medication called Gleevec. She hasn't been on it long enough to really know if it will work."
The Children's Tumor Foundation had a fundraising arm in the NF endurance team, giving Kristy, an avid runner, an opportunity to do something. The team was comprised of people who mostly cycle and run for races.
"Most of the participants either have NF themselves or have children with NF," Kristy says. "I've always been a runner and I felt like that was one thing I could do-run with an NF endurance team to raise money to maybe help find a cure, and also just to make people aware of the condition."
She began running in races about five years ago. She's training for her fifth full marathon and fifth half marathon. Kristy has raised more than $10,000 this year and almost $68,000 since she started racing to raise money five years ago.
"It's really great," Kristy says. "People have been very generous and really supportive."
Kristy unwittingly found herself amid some high-profile chaos this past April.
"The Children's Tumor Foundation [CTF] had a raffle back in January for a fundraiser, and the prize was a spot in the Boston Marathon."
Kristy won the spot. She was a half-mile from the finish line when the bombs went off.
"The kids were there," she recalls, referring to Helen, 11; Alec, 9; and Jane. "They weren't at the finish line; they were at mile 23. One of my cousins had run it before and said, 'Oh, you'll never be able to see each other at the finish line.' I've called her so many times since then saying, 'Thank you.'"
Anyone who didn't finish because of the attack can run next year, so Kristy plans to run the Boston Marathon for CTF again in 2014.
When they're not fighting for a cure for NF, Kristy and her family, who have lived in town since 1997, take advantage of all their hometown has to offer.
"We love being on the shoreline," Kristy says. "We like the woods in North Madison, too. This is a nice community with great schools. We swim and hike and visit with friends. We love going to the beach. We go a lot to the Surf Club. We spend time there in the summer on the beach and on the playground. The kids have soccer practice there."
Kristy met her husband, Todd Constable, at Yale while he was working on his post-doctorate and she was working in the same lab doing research. Kristy is now an OB/GYN with her own practice in Guilford, and Todd is a physicist at Yale.
One breakthrough in the fight against NF that Kristy has enjoyed is the new Connecticut branch of the Children's Tumor Foundation, started by a woman from Putnam.
Kristy says, "Because NF is fairly rare, you don't meet a lot of people who have kids with it. I have Facebook friends in the NF community, but they're in Texas and California. I didn't have anyone [local] to talk to, because there was no Connecticut chapter when Jane was diagnosed. But it's nice now to know that that's developing so that if other people get diagnosed they have a place to turn to."
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Learn more about NF and the Children's Tumor Foundation at www.ctf.org. To read Kristy's blog posts about Jane, NF, running, and more, which she began writing while training for the Boston Marathon, visit http://nfemom.blogspot.com.