Lesa and Brennan Brackbill with Tori. Image by Katie Bingaman Photography

Lesa and Brennan Brackbill of Hershey have endured something no parents should—the death of a child.

Their daughter Victoria (“Tori”), born in July 2014, passed away on Easter Sunday 2016, 14 months after being diagnosed with a severe neurological condition called Krabbe (“crab-ay”) disease. Even though Tori’s time on earth was short—fewer than two years—her mother Lesa is determined to create a lasting legacy by advocating for changes to Pennsylvania’s newborn screening laws that could have prevented Tori’s death.

Even So, Joy

One in every 100,000 people is diagnosed with Krabbe. One in 125 people carry a gene mutation for Krabbe. Carriers only pass the disease to children when both parents carry the mutation.

Unbeknownst to Lesa and Brennan until Tori’s diagnosis at Hershey Medical Center, they are both carriers. According to the NIH, if Krabbe is caught at birth through newborn screening tests, it can be treated. If the disease is allowed to progress, children rarely survive past the age of 2. These statistics roll off Lesa’s tongue easily. She says that, before this experience, she had no medical knowledge, nor did she consider herself a writer.

“Unfortunately, we aren’t going to be the only ones to ever lose a child, or lose a child to Krabbe,” she said. “So, we felt like we owed it to people to write about how to survive the worst loss.”

Her book, “Even So, Joy,” was published earlier this year and chronicles her family’s experience with Krabbe.

“The first months after diagnosis, we were in a daze, and we grieved the most as we struggled with what the diagnosis meant,” she said. “But then we came to the decision that we weren’t going to cry every day and make her life miserable. We were going to choose to be joyful and make her life as full of joy as possible. That’s where the title comes from.”

Lesa cites the legacy of Milton S. Hershey as one of her greatest sources of inspiration. Her husband, Brennan, is employed by Hershey, and she has worked at The Hershey Story. The couple serves as relief house parents for the Milton Hershey School.

“When we first learned about the school and why it was created, we learned that Mr. and Mrs. Hershey couldn’t have children of their own and, instead of wallowing in that, they used it to start a school,” Lesa said. “Sometimes, you’re put into a situation to act for the greater good. It’s inspiration for us to further Tori’s legacy by making a difference.”

She is donating a portion of the book proceeds to Hunter’s Hope, a foundation established by NFL Hall of Famer Jim Kelly and his wife Jill, whose son Hunter also had Krabbe. The foundation is dedicated to awareness of the disease, support for families like the Brackbills, research and advocacy. According to Hunter’s Hope, only five states currently screen all newborn babies for Krabbe.

Like a Victory

Currently, Pennsylvania hospitals are mandated to screen for nine dried blood spot conditions—tested by a simple heel prick—all paid by state funding. However, the technology exists to test for additional diseases. So, some Pennsylvania hospitals test for as many as 32 conditions with hospitals or insurance absorbing the additional cost.

“Hershey is the only hospital that screens for Krabbe in the state,” Lesa said. “In Pennsylvania, if you have one of these diseases, your zip code literally determines life or death. The inconsistency is mind-blowing. My goal has been to change this. The average [number of diseases on newborn screening panels] is usually in the 40s for other states.”

Rep. Angel Cruz (D-Philadelphia), Democratic chair of the House Human Services Committee, has become a champion for newborn screening laws. He introduced Act 148, named “Hannah’s Law,” for a Philadelphia-area girl diagnosed with Krabbe in 2013. Hannah’s Law, signed by Gov. Tom Corbett in 2014, called for the expansion of the state’s mandatory newborn screening list, including Krabbe.

However, according to Cruz’s staffers, the legislation has yet to be enacted due to two key issues. First, it mistakenly bypassed the Newborn Screening and Follow-Up Technical Advisory Board (TAB), mainly comprised of state medical experts who provide guidance and recommendations to the state Department of Health. And, secondly, implementation requires a funding source.

“What really needs to happen is creation of a dedicated funding source that would not need to be part of the budget process that would fund the program every year,” said Rachel Romanofsky, research analyst for the Human Services Committee.

House Bill 1081, introduced by Cruz in April 2017, would impose a fee on “birthing facilities,” paid to the state for every baby’s screening tests, including those identified under Hannah’s Law, as well as future tests recommended by the TAB. Romanofsky says 47 states already have such a fee system in place.

At the latest TAB meeting, held in Harrisburg in May, some of the state’s brightest medical minds discussed funding and advocacy. That’s because Department of Health officials say the program needs $6 to 7 million to launch.

“The [newborn screening] program is in a difficult position,” said Chairman Jerry Vockley, a physician at Children’s Hospital of Pittsburgh. “There are things we are mandated to do but cannot [due to lack of funding].”

Despite the continued delays, Lesa is positive.

“Today was encouraging because it’s no longer a matter of whether or not the advisory board feels that screening for Krabbe has merit, but rather a matter of how to pay for it and for any other diseases that may come along in the future,” she said. “That validates our fight and feels like a victory.”

While the fate of newborn screening in Pennsylvania remains cloudy, the Brackbill family recently announced happy news. Lesa gave birth to twin baby boys on April 24—and they are both Krabbe-free and healthy.

To learn more, visit www.HuntersHope.org. Lesa Brackbill’s book “Even So, Joy” is available through Amazon.