Out of tragedy, hope

One family’s mission to honor their daughter and shine light on a rare, fatal childhood disease

The day Matt and Lauren Hammond brought their baby girl Loie home from the hospital to meet her big brother Owen, everything seemed wonderful. They could not have imagined what lay ahead.

Everything was normal at first. As a toddler, Loie loved to play with her big brother and dazzled everyone with her beautiful smile. But she began to manifest delays in her development that would ultimately be diagnosed as a very rare fatal genetic disease, known as metachromatic leukodystrophy, or MLD. She would not live to see her fourth birthday.

September is Leukodystrophy Awareness Month, a time to listen, acknowledge and act in support of the young children and their families who face the devastating effects of this group of rapidly progressive and neurodegenerative diseases.

MLD, the form of leukodystrophy that affected Loie, occurs in about 1 in 100,000 children. In its most severe form, children quickly lose the ability to walk, talk and interact with the world around them. Most of these children pass away in their first decade.

This September, a key message of Leukodystrophy Awareness Month is that newborn screening for leukodystrophies is critical to ensuring that families have an equitable opportunity to pursue a diagnosis and care.

Getting a correct diagnosis took time. At first, doctors reassured the Hammonds that Loie’s developmental delays were nothing to worry about. She’d catch up, they said. Loie didn’t and things continued to get worse. Specialists then thought Loie had a form of cerebral palsy but said she would be able to walk in the future. Still, Loie’s symptoms progressed. Finally, on Christmas Eve 2012, tests revealed the diagnosis of MLD.

“I remember sitting in the hospital room’’ and being told there was no treatment, Lauren says. “You become numb. It doesn’t feel real. The whole world stops.’’

But the Hammonds didn’t stop. Instead, they sprang into action, making the best they could of the time Loie had with them. Loie loved being outdoors, so they created a garden with a gazebo near their home in suburban Philadelphia, where they could hold her and let her experience the comforting sights, sounds and other sensations of nature.

After Loie’s death on January 27, 2014, having seen first-hand how her daughter benefitted from various forms of music, play and physical therapy, Lauren left her career in the pharmaceutical industry and went back to school to train as an occupational therapy assistant. In their work with terminally ill children, she says, these therapists take on a mission to “make each day count, to give hope.’’ Rededicating her professional life to a similar pursuit was Lauren’s way of honoring her daughter and paying it forward.

Explaining Loie’s illness to brother Owen, having to tell him that “she’s not well, will be getting worse, and won’t get any better,’’ was another difficult aspect of Loie’s diagnosis Lauren says. There were few resources available to siblings of children diagnosed with rare disorders, but Owen, who is now 14 and just entered 9th grade, found a way to stay positive. He has grown into a “compassionate young man,’’ says Lauren, earning Citizenship Awards in school and organizing a class drive for the Children’s Hospital of Philadelphia (CHOP), in which he and his classmates created over 150 “monster bags’’ for siblings of children being treated at the hospital. He continues to remember his sister in various ways, his parents say, such as stitching Loie’s name into his baseball glove.

The whole family is involved in advocacy. Matt, a civil engineer, and Lauren connected with Maria Kefalas and her late husband Pat Carr, who also have a daughter with MLD, and together they helped create the first nationwide Leukodystrophy Center of Excellence at CHOP and the Loie Hammond Memorial Lectureship, an annual program to bring researchers and clinicians up to date on progress in MLD. Through their ongoing efforts, the families continue to raise awareness and hundreds of thousands of dollars through fundraising events, such as its biennial Cupcake Gala, that involves participation from hundreds of companies and individual contributors.

And there are opportunities today, more than ever before. When Loie was diagnosed, Lauren says, “we were told there were no options and hardly any doctors who knew about MLD.’’

Now there is hope. Significant progress is being made in research on all leukodystrophies, including MLD, most of it in the years since Loie passed, says Matt.

“It feels like a different world,’’ he says. “We are not done yet, and quite frankly, we have barely begun.’’