About Us

Lillian Louise Gray – Our Shining Lilly Lou

Lilly Lou, our fierce and joyful daughter, turned 4 on Valentine’s Day 2026. She is the light of our lives, full of determination, grit, and an infectious laugh that lights up every room.

From the beginning, Lilly Lou has shown extraordinary strength. At 18 months, when she had not yet taken her first independent steps, her pediatrician recommended an MRI. Months of bloodwork and genetic testing followed, leading to a heartbreaking diagnosis: Pelizaeus-Merzbacher-like disease (PMLD1), a rare hypomyelinating leukodystrophy caused by mutations in the GJC2 gene.

Lilly Lou inherited this autosomal recessive condition from both parents, Michael and me, who each carry one mutated gene but show no symptoms. PMLD1 disrupts myelin formation in the brain, the protective coating that helps nerves communicate. Common signs include nystagmus (involuntary eye movements), hypotonia (weak muscle tone) early on, progressing to spasticity (muscle stiffness), ataxia (balance issues), and potential regressions during everyday illnesses like the flu or stomach bugs.

Yet Lilly Lou defies the odds every day. With dedicated physical and occupational therapy since 18 months, she now walks independently with her signature determined gait and occasional falls, uses a walker or wheelchair as needed, communicates clearly, reasons like a wise little soul, and thrives cognitively. Her sense of humor is amazing, her laughter contagious, and her independent spirit leaves us in constant awe. We are so proud to call her our daughter.

Doctors describe PMLD1 as slowly progressive, with challenges often intensifying in adolescence. The rarity of the disease means progression can feel like a guessing game. Even kids with the same gene mutation can vary widely. But we refuse to lose hope.

Exciting research is underway. Dr. Kleopas Kleopa and his team, in collaboration with Myrtelle for intracranial delivery and Dr. Miguel Sena-Esteves at UMass Chan for blood brain barrier penetrating vectors, are actively developing gene replacement therapies for PMLD1. These build on platforms already in human trials for similar leukodystrophies like Canavan disease, with preclinical rodent testing ongoing and potential human trials estimated in the coming 3 to 5 years depending on funding, collaborators, and data.

We are eternally grateful for the outstanding team at Children’s Hospital of Philadelphia (CHOP) Leukodystrophy Center, where Lilly Lou receives annual care, and for the PMLD community, especially Maite Robinson and the PMD Foundation, who connect families and advocate tirelessly.

For the Love of Lilly Lou, Inc. was born from this hope. Our mission is to raise awareness, support PMLD1 families, and direct funds toward accelerating gene therapy research, ensuring donations go straight to promising projects like those from Dr. Kleopas, Myrtelle, and UMass. Every step Lilly Lou takes and every giggle she shares fuels our fight for a future where she and others can hold onto their hard won skills without fear of progression.

We cannot do this alone. Join us in waving the flag for PMLD awareness, building community, and pushing toward a cure. Together we rise for Lilly Lou and for every rare warrior.

With endless love and unwavering hope,

Michael, Laura Lee, and Lilly Lou Gray