Share on Facebook
Share on Twitter
E-mail this article
Print this Article

Ben and Kathleen Smith of Leonardtown are working for a change in Maryland that they believe will save the lives of some babies. They believe this change may also save some families from the worst kind of heartbreak.

What the Smiths want sounds simple. They’d like the state to slightly expand its newborn screening program.

In Maryland, newborns go through blood spot screening in the hospital, in which they are tested for at least 52 hereditary and congenital diseases to allow for early intervention if a problem is found. The Smiths believe that one more test — a test that could potentially add a group of six diseases (all lysosomal storage diseases) to that list of 52 — should be added.

The additional testing would only add $4 per baby screened, Ben said, and he and his wife believe it could potentially save the lives of seven children each year in Maryland, according to his calculations.

The Smiths look to their own experience to illustrate how valuable they believe this screening could have been to them.

The Smith’s youngest child, Lily, turned 2 years old on Sept. 26. She has soft, reddish curls and a quick smile for her sister, Abby, 4, and brother, Elijah, 7, when she sees them jump and roughhouse with their dad. She also grins when her mom is within eyesight.

But Lily is disabled. She won’t ever be able to jump and play with her brother and sister.

She has Krabbe disease, a rare, hereditary disorder that affects the central and peripheral nervous system. Krabbe is one of the group of six lysosomal storage diseases that could be covered in the expanded testing the Smiths want.

When Lily began showing symptoms of the disease at 4- to 5-months old, the doctors at Children’s National Medical Center in Washington, D.C., diagnosed her and told the Smiths that Lily would probably only survive to her first birthday, if that.

It was crushing news. “I don’t think I’ll ever recover from hearing that my daughter only has seven months to live,” Ben said.

The Smiths didn’t give up hope, however, and on their own they pursued a somewhat experimental treatment at Children’s Hospital of Pittsburgh, where the doctors performed a combination of chemotherapy and umbilical cord blood transplant on Lily.

The treatment was successful in that it dramatically improved Lily’s life expectancy. Instead of Lily only living to see her first birthday, she is expected to make it to her 10th or 15th birthday. “It could be more,” Ben said.

“… and with medical advancements?” Kathleen added hopefully.

The treatment saved Lily’s sight and vision. It also saved her cognitive ability. “This is better than they thought she would be,” Kathleen said.

But the Krabbe disease had already robbed Lily of many physical abilities. She has little muscle control. She can’t clear her throat. She will always be confined to a wheelchair. It is not clear whether she will ever be able to talk. She definitely communicates, however. She “makes happy and not-so-happy sounds,” Kathleen said. Things that make her smile are books and favorite television programs. Something that upsets Lily is for her mother to leave the room.

If Lily had received the newborn testing the Smiths are now advocating, the doctors could have diagnosed her with Krabbe before she was symptomatic. Lily could have been treated before the disease had harmed her, the Smiths say.

“If we lived in New York [a state where screening for Krabbe is included in newborn screening], she would be running around right now,” Kathleen believes.

The Smiths began advocating for this expansion of newborn testing almost as soon as they received Lily’s diagnosis. They contacted Sen. Roy Dyson’s (D-St. Mary’s, Calvert, Charles) office to request legislation to make the change. They noted that Dyson’s office was helpful. However, the Smiths recently learned that legislation is not necessary to add to the list of diseases tested.

The Maryland State Advisory Council on Hereditary and Congenital Disorders considers requests to changes in that testing. “The advisory council makes the recommendation to the secretary of health,” said Dr. Deborah Badawi, a doctor with the Maryland Department of Health and Mental Hygiene, Office of Genetics and People with Special Health Care Needs, and a member of the council. The 11-member council is made up of both health professionals and consumers.

The council, which meets four times a year, met recently and invited the Smiths to participate in that meeting.

Dr. Mimi Blitzer, chair of the council and a professor at the University of Maryland School of Medicine, said the council will begin looking into whether it would recommend the additional testing that the Smiths have requested. “This isn’t an overnight kind of thing,” Blitzer said. “It is a process.”

The council will consider several aspects of the question. “Is the newborn screening test accurate, valuable and doable,” Blitzer said of what would be considered, as well as whether the treatment can be administered in a timely way.

Blitzer noted that nothing had been published on Krabbe treatment outcomes since 2009, and the council needs to make its recommendation based on “sound, peer-reviewed evidence.”

The Smiths say the doctor who cared for Lily at the Pittsburgh hospital is getting ready to publish some of her results as soon as this spring, which they hope will assist the council in its decision.

Blitzer also noted that a council’s recommendation doesn’t automatically add the testing. The state might have trouble funding the cost of additional equipment and staff at the state labs. The Smiths say that they understand those startup costs would be approximately $3 million.

As Ben and Kathleen sat in their home last Friday and told their story, they repeatedly remarked about how fortunate they were and how grateful they were for how far Lily has come since her diagnosis. The unfortunate pattern for most parents who are carriers of Krabbe is that they have a child with the disease, and that child dies. It is only then that the parents learn they are carriers and know to ask for the Krabbe screening if they ever have another child.

“Most parents lose their first child with Krabbe,” Ben said looking at Lily and stroking her cheek.

“She’s a miracle.”