A Leonardtown, Md., family is trying to convince the state legislature to expand the number of maladies for which newborn babies are checked. Their own two-year-old daughter suffers from a rare neurological condition that, had it been detected earlier, might have been cured.
Lily Smith suffers from Krabbé Leukodystrophy. Much of the time she is in a pediatric walker or a pediatric wheelchair because of her extremely weak muscles. Lily appeared normal at birth.
"We brought her home," recalls Lily's mom, Kathleen Smith. "She was beautiful, moving, doing everything that a normal little baby should do. We weren't worried at all and then -- suddenly -- she stopped holding her head up. She started getting really tight. She stopped reaching for her toys."
Newborns in Maryland are routinely tested for 53 separate disorders, but leukodystrophys are not among them. The incidence of the disorder is rare; only about one in 5,000 babies suffers from the condition.
There are treatment regimens, but they work only if administered before symptoms appear.
"There are many cases that we know of that the family lost a child to this disease, then they knew to screen their next child for this disease," Benjamin Smith, Lily's father, told us. "And then that child received the treatment and is fine today."
Lily has gotten some experimental treatments, but unless there is a medical breakthrough, her parents have been told she will likely live only until the age of 10 or 15.
The Smiths are trying to convince the Maryland Legislature to pass Lily's Law, which, for about $4 more per test, would add screening for leukodystrophys in newborns. That would give physicians and families the early warning needed to start treatments quickly.
Currently, babies in New York, New Jersey, Illinois, and Missouri are routinely checked for the rare disease. Since it's not on the recommended list in 46 other states, including Maryland, parents don't know to ask for the test.
That is what happened to the Smiths.
"I've gotten over the anger," Benjamin Smith says. "And I'm trying to channel the anger into something useful."
At hearings earlier this month, state health officials told legislators they believe more research is needed before expanding the list of routine tests for newborns. The Smiths disagree and warn that between ten and 15 babies a year in Maryland are born with leukodystrophys.
Legislative committees in both the House and Senate in Annapolis will likely decide whether to move forward with Lily's Law in the next two weeks.