What is Leukodystrophy?
Leukodystrophy causes the myelin, or “white matter,” of the brain to progressively decline. Myelin, which acts as an insulating cover over nerve fibers in our brains, is responsible for the correct and fast movement of nerve impulses. The less myelin present, the slower information travels between nerve cells.
Some people with a leukodystrophy are born with symptoms or have them from a very young age while others don’t develop them until later in life. Symptoms might include seizure activity, loss of motor function, and eventual loss of self-care skills. All forms of the disease are progressive, which means they worsen over time, and all forms are currently incurable.
The popular film Lorenzo’s Oil put one form of leukodystrophy, called Adrenoleukodystrophy (ALD), into public conversation. Though ALD is the leukodystrophy that most are familiar with, 52 leukodystrophies have been identified to date. Peroxisome biogenesis disorder (PBD) can cause one form of leukodystrophy.
The importance of early screening
Early detection of ALD can significantly improve the quality of life of those affected and their families, but only a handful states in the U.S. currently include ALD in their newborn screening tests. Because ALD shares biochemical markers with Zellweger spectrum disorders and the related single enzyme disorders, newborn screening for ALD will identify babies born with ZSD who might otherwise go undiagnosed. We’ve heard countless stories from families who spent years searching for a diagnosis for their children. With a simple bloodspot test and early diagnosis, that time could instead be spent finding support, medical intervention, and answers to their questions. The GFPD advocates for adoption of ALD newborn screening tests in every state, and with increased awareness of leukodystrophy and fundraising for research, we believe this can be realized.
#LeukodystrophyAwareness
#LeukodystrophyAwareness has spread on social media throughout the month of September. If you take a look today, you’ll find hundreds of posts from families sharing stories about their affected and lost loved ones, the research that needs to be done, and medical progress being made. What all these posts have in common is an appeal to the rest of the world to let it be known leukodystrophies—and the people affected by them—exist. That’s really what this month is meant to accomplish…awareness. Only with increased awareness can we begin to help move leukodystrophy research forward.
What Can You Do?
This year, our organization, the Global Foundation for Peroxisomal Disorders, is celebrating its 6th anniversary. What started as a patient and family support group has grown into an international organization that funds research and connects families across the world. On October 5th, you can #PAUSEforPBD by remembering a loved one, sharing a story, lighting a candle, or donating $6 in honor of our 6th birthday. Share your experiences in words, photos or videos on your own Facebook, Instagram or Twitter accounts, and be sure to use the hashtag #PAUSEforPBD. Visit the #PauseforPBD event page on Facebook for more ideas for getting involved.
Learn more about Leukodystrophy and about organizations, like the GFPD, working to facilitate research, funding, patient/family support and awareness:
http://ulf.org/what-is-leukodystrophy
https://medium.com/leukodystrophy-awareness