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Ben and Kathleen Smith of Breton Bay noticed something unusual about their 5-month-old baby’s behavior in mid-February.
Ben demonstrated by holding out his hands and closing his fingers tightly over his thumbs, making two fists. “She would make a fist ... and draw her arms up to her chest,” he said of his daughter, Lily, as he showed what that looked like. And her legs would straighten out, like she had a cramp, he said.
Those were the first signs.
Ben sat at the edge of a couch in his home Monday evening as he explained what those signs meant about Lily’s health and what the last seven weeks have been like for her and the rest of the family, which also includes Lily’s older siblings, Elijah, 6, and Abigail, 3.
“It’s pretty awful. It’s really the worst nightmare you can think of,” Kathleen said by telephone Wednesday morning.
Thinking she would just check out Lily’s unusual stiffness with the pediatrician, Kathleen said she started getting “really stressed” when the doctor pulled out the milestones chart and Kathleen could see that the problem was more than stiffness. After seeming like a healthy, normal baby in every way up to that point, Lily was regressing in her development.
The Smiths took Lily to Children’s National Medical Center in Washington, D.C. She was diagnosed with Krabbe disease.
“It’s really hard,” Ben said, and paused. “They told us she had seven months to live.”
The doctors told the Smiths to “just go home and enjoy every minute of time you have with her,” he said.
Krabbe disease (pronounced “craw-bay) is a rare, inherited degenerative disorder of the central and peripheral nervous systems. The disease occurs in only about 1 out of every 100,000 births.
Krabbe disease is one of a group of genetic disorders called the “leukodystrophies.” These disorders impair the growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers and cause severe deterioration of mental and motor skills, according to the National Institute of Neurological Disorders and Stroke. Krabbe disease is caused by a deficiency of the enzyme galactocerebrosidase, or GALC.
Infantile Krabbe disease is generally fatal before age 2. It is the disease that killed Hunter Kelly, the son of quarterback Jim Kelly, formerly with the Buffalo Bills.
Heartbroken by the diagnosis, the Smiths took Lily home. But Ben found a government-run website that lists clinical trials and found Dr. Maria Escolar at the Children's Hospital of the University of Pittsburgh.
“When we went to see Dr. Escolar, our primary goals were to receive assistance managing her pain and suffering and to involve Lily in Dr. Escolar’s research studies in order that she may have addition information to help her better understand the disease,” Ben wrote in an email. After an examination and tests, Escolar told them that Lily was a candidate for a new procedure that involves 14 days of chemotherapy and a cord blood transplant that could extend her life to 10 to 15 years.
“And while Lillian will be a special needs child for that period, we feel that we had to do everything possible to save our daughter. The procedure requires a minimum six months stay at Children's in Pittsburgh,” Ben said.
“This isn’t going to fix what she has already lost,” Kathleen said, which is most of her gross motor skills.
It was a difficult decision to go through with the treatment, Ben said, noting the likely profound disabilities that will go along with the longer lifespan. “We didn’t want to preserve Lily’s life for us. We wanted to do what was best for Lily,” he said.
Kathleen quit her job as a home day care provider and is with Lily now in Pittsburgh as the baby goes through the treatment. Kathleen’s mother, Sue Blackwell, is there as well.
For the past two weeks, the baby has undergone chemotherapy. There have been two major scares during that time. Lily had an allergic reaction to one of the medicines being used in the treatment, and she was moved to the intensive care unit until she was stabilized. Then the steroids they gave her to help with the allergic reaction caused her heart rate to drop to the 40s, sending Lily back to ICU, Kathleen said.
But the doctors are positive about how Lily is responding to the treatment, Kathleen said.
Today, April 13, the doctors will do the cord blood transplant, which Ben described as more like a transfusion. The hope is that the procedure will halt or slow the degenerative disease and allow Lily’s body to produce its own GALC. The family should know whether the treatment was successful around the first week of May.
Kathleen said that the treatment makes Lily sleepy and sometimes nauseous. “But you know, she’s still smiling. She’s still smiling,” Kathleen said. “She’s pretty resilient.”
While Kathleen has been in Pittsburgh, Ben has returned to work at Webster Field, where he is a field engineer for L-3 Communications.
Family members and friends have pitched in and helped Ben care for Abigail and Elijah.
Pat Martin of Loveville says she’s been friends of the Smith family for a few years. And when she heard about Lily’s diagnosis and the treatment, she wanted to do something to help. “I knew the family could use it,” Martin said. She organized a fundraiser for April 21 at the Elks Lodge in California. Other friends have started an online fundraising campaign.
Ben said they are touched by the assistance offered and by efforts like Martin’s, but he says that his family isn’t seeking out financial assistance. Both he and Kathleen say they don’t know how much this treatment and subsequent care will cost. They only know parts of the cost, and all those parts are expensive. In the meantime, the regular bills keep coming in, though the family has lost Kathleen’s income.
“We’re very humbled and thankful for our family and friends that have helped us out so much. All we’ve ever asked for is prayer for Lily,” Ben said. “And that’s all we want, is for people to pray.”
Although they hadn’t even heard of Krabbe disease two months ago, the Smiths have become advocates for genetic testing for the disease. After Kelly’s son died from it, he was able to get legislation passed in New York that every baby be screened for the disease at birth. If caught at that point, the baby can undergo treatment immediately and go on to live a normal lifespan.
“I guess that’s what’s so sad,” Ben said. Lily’s disease was not caught before it had already progressed and caused damage. “It upsets me that we just didn’t know. We want people to know.”
While insurance normally doesn’t cover the cost of that testing, Ben said, it is only a $400 test. “It’s such a terrible disease. I would consider $400 out of pocket a worthy expense.”
Kathleen acknowledged that Krabbe disease is rare, but she maintained that a few hundred dollars for a test was a good investment. “If we save just one, isn’t it worth it?”
A fundraiser for Lillian Grace Smith will be held April 21 from 5 to 10 p.m. at the Elks Lodge in California. It will include a silent auction, dinner catered by Bailey’s and karaoke. Cost is $20 per person in advance or $25 at the door. Those 10 and younger will be admitted for free. Dinner will be served at 6 p.m.; karaoke will be at 8 p.m.
To order tickets or for more information, call Pat Martin at 301-481-2348.
In addition, donations can be made to “Lillian Grace Smith Fund,” c/o PNC Bank, P.O. Box 633, Leonardtown MD 20650.
Donations can also be sent through the GoFundMe site at http://www.gofundme.com/h12ok.
For more information about Krabbe disease, see www.huntershope.org or http://ninds.nih.gov/disorders/krabbe/krabbe.htm.