4HL Leukodystrophy isn't just a story of a disease. It's a story of children and families.
What is 4HL Leukodsytrophy / POLR3-Related Leukodystrophy?
4H Leukodsytophy is a rare and devastating disease of the central nervous system. The name 4H stands for hypomyelination, hypogonadotropic hypogonadism and hypodontia. The disease is also known as POLR3-Related Leukodystrophy or 4H Syndrome.
Hypomyelination means that there is lack of myelin in the central nervous system, which results in problems in transmission of messages from the brain throughout the body. Hypogonadotropic hypogonadism means delayed or abnormal puberty because the central nervous system is not able to initiate it properly. Hypodontia means that not all teeth are present or there is abnormal development of teeth.
Symptoms tend to get progressively worse over time, and people with 4H Leukodystrophy suffer from motor problems, resulting in ataxia and loss of the ability to walk. They often develop difficulties swallowing, which leads to difficulties with eating and breathing. There is not yet a known cure.
Our daughter, Yael “Yaya” Garber, was a lovely, sweet, playful, and resilient young girl. She loved batting at her octopus toy, being kissed on the cheek, and playing with her family and best friends. Yaya was diagnosed with 4H Leukodystrophy when she was just 8 months old and faced incomprehensible challenges as a result of the disease. In the face of these challenges, Yaya fought every day to make the most of her life. She was a loving daughter, granddaughter, niece, and friend. She approached her physical therapy and play with curiosity, adventure, and a zeal to achieve new heights in spite of the limitations placed on her. She inspired us every day.
4H took Yaya from us just weeks after we celebrated her first birthday. We miss her every single day, but also treasure the gifts she left us with. One of those gifts is the tenacity with which she approached the challenges she faced in her own life. As a disease community, we face many challenges. 4H Leukodystrophy is a complex disease about which much is not yet known. We are determined to attack the work needed to unlock a cure with the same zeal with which Yaya approached her life. Please join us.
Ron Garber and June Cheng
Yaya’s parents and co-founders of Yaya Foundation
Collecting data is an essential first step on a rare disease research journey and an important way for patients and their caregivers to contribute to advancing care for their communities. Learn more about the 4H Leukodystrophy Data Collection effort launching in June 2021.