Help Lilly Lou with a Genetic Therapy for PMLD

Lilly Lou’s Introduction from her Mom – LauraLee Gray (Wade's cousin)

Lillian Louise Gray (Lilly Lou), 3, was born with a very rare genetic disorder. She inherited this disorder in an autosomal recessive manner – in other words, her dad nor I show any signs of this disease because we have one functioning gene and one gene with mutations. At 18 months, Lilly Lou’s pediatrician recommended an MRI because Lilly Lou had not yet hit her walking goal.

Lilly’s Diagnosis

Fast forward about 6 months later with bloodwork and genetic testing complete, Lilly Lou was given her diagnosis: Pelizaeus-Merzbacher-like disease (PMLD; hypomyelinating leukodystrophy). This disease is slowly progressive, so it will get worse over time. The disease affects the myelin formation in the brain; the myelin does not properly form. The symptoms of the disease are weak muscle tone (hypotonia) and involuntary movement of the eyes (nystagmus). Muscle stiffness (spasticity) typically replaces hypotonia as children get older. Lilly Lou has been going to PT and OT since she was 18 months old. She is currently able to get around in a walker and has even been taking some steps on her own. Everything Lilly Lou can do is a direct result of her fiercely independent and strong spirit. Every challenge has been met with a strength that leaves her dad and me in admiration of our girl. We are so proud of her! The doctors say typical progression gets worse at adolescence. It is our hope and prayer that a genetic therapy be available to Lilly Lou ASAP!

Lilly’s Prognosis

Lilly Lou has an outstanding team of physicians. There are currently over 50 types of leukodystrophies that have been discovered, each type caused by a genetic mutation in a specific gene. There are a wide range of symptoms and progression rates. The diagnosis of this is devastating, but we are not without hope because of the up-and-rising field of genetic therapies. There is currently not a genetic therapy for Lilly Lou’s specific gene mutation; however, they have begun animal testing, and we are very, very hopeful a therapy will be offered soon.

How You Can Help

We cannot thank Wade and Emma enough for their generosity in asking their friends and family to donate to Lilly Lou’s genetic therapy. They wanted to bring awareness to this rare disease and the genetic therapies that are being developed to help others. Unfortunately, the cost of genetic therapies is not inexpensive, and we knew that there would come a time when we would need to start actively fundraising for Lilly Lou & her treatment. Because of Emma and Wade’s generosity, this is the beginning of our fundraising efforts; this is our jump start for our daughter’s inevitable medical bills once the therapy is made available. We are in the process of creating a non-profit for Lilly Lou’s Leukodystrophy – to donate funds for genetic therapy research and development. None of the funds raised would be able to be used by us directly for Lilly Lou’s specific therapy, so we have also created a GoFundMe account for her specific therapy. Thank you Wade and Emma, so much, from the bottom of our hearts – for being the first people to bring attention to Lilly Lou’s diagnosis and kick start our fundraising goals. The first money donated to her therapy is directly because of your generosity, and we will forever be in your debt. It is so meaningful to us and to Lilly Lou!

Eternally grateful and hopeful,

Michael, Laura Lee, and Lilly Lou Gray