Welcome to KrabbeConnect
KrabbeConnect is dedicated to improving care and finding a cure for Krabbe disease through collaboration across a network of patients, advocates, doctors, researchers, and organizations. Our goal is to bridge science and patient knowledge to improve care and find a cure. We are committed to a patient-centered approach, ensuring that the voices of patients and caregivers guide research and care.
Our Heroes
We are working towards a day in which each patient receives an early diagnosis, has access to state-of-the-art care, and lives a life free of Krabbe disease. Help us celebrate all of the Krabbe disease Heroes and join the fight to #curekrabbe!
Current & Upcoming Events
September 2025
2025 Leukodystrophy & Newborn Screening Awareness Month
September is LeukodystrophyThe leukodystrophies comprise a group of progressive, genetic disorders mainly affecting the central nervous system (CNS). Most leukodystophies result from a disruption of the growth of the myelin sh and Newborn Screening Awareness Month! The goal is to encourage parents, healthcare providers, and policymakers to advocate for the inclusion of more conditions, like leukodystrophy, in routine newborn screening panels. Read More
October 17-26, 2025
2025 Anywhere Strides 5k Walk/Run to #curekrabbe!
Join us for a meaningful journey towards a cure! Anywhere Strides invites you to lace up your sneakers and join our 5k walk or run, all in support to #curekrabbe. By participating in Anywhere Strides 5k, you’re not just taking steps or running miles – you’re making strides towards a cure for Krabbe disease. Your […] Read More
Ongoing
See’s Candies to Help #curekrabbe
Sweeten hearts and change lives! Join Krabbeconnect’s Year-Round Candy Drive. Your support will help satisfy sweet cravings and fuel research for those affected by Krabbe disease. This is a great way to send a gift to others while making a difference with your purchase! Participation is simple. Here’s how it works: You can ship […] Read More
Neuro-crying or neuro-irritability is a symptom of infantile #krabbedisease that often gets misdiagnosed. Listen to one family’s story.
Not all stories echo this family’s however, when irritability was one of the presenting symptoms, healthcare providers most often attributed it to gas, colic, or reflux—or dismissed it entirely. This insight came from our recent study, “Parent-Reported Disease Burden in Infantile and Late Infantile Krabbe disease; a Comparison of Quality-of-Life Outcomes in Transplant and Non-or Late Transplant Patients Study.”
Additionally, in one case, a provider interpreted the irritability combined with extremely poor weight gain as a potential sign of neglect and involved Child Protective Services.
KrabbeConnect is working to improve education and awareness around irritability in Krabbe disease.
#curekrabbe #neurocry #krabbeconnect
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Meet Michael 💙
He’s living a full, unrestricted life thanks to early detection and a life-saving transplant.
But not every individual gets this chance — some states only screen for the infantile form of Krabbe disease.
We believe every form should be identified at birth. Every child deserves that chance.
👉 What do you think states should include in their Krabbe disease screening? Drop your thoughts below or tag your state’s health department to help raise awareness. ⬇️
#KrabbeDisease #NewbornScreening #CureKrabbe #KrabbeConnect
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🧬 Understanding “Variants of Unknown Significance” (VUS) in Krabbe Disease
Sometimes, genetic testing finds a change (variant) in the GALC geneThe GALC gene is located on chromosome 14. This gene provides instructions for making the enzyme galactocerebrosidase. This enzyme breaks down certain fats called galactolipids. Galactocerebrosidase More — the gene linked to Krabbe disease — but doctors and scientists aren’t yet sure what that change means. That’s called a Variant of Unknown Significance, or VUS.
It simply means:
➡️ The change might cause Krabbe disease — or it might not.
➡️ More research and data are needed to know for sure.
➡️ Over time, as more people are tested and more information is shared, these variants can be reclassified as either disease-causing or benign.
If you ever see “VUS” on a genetic report, know that it doesn’t give a clear answer yet — but it’s a starting point, and ongoing research helps us get closer to understanding what these results truly mean. 💙
#KrabbeDisease #genetictesting #curekrabbe
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We are deeply grateful to those who have dedicated their lives to improving outcomes for individuals affected by rare diseases. While the community of researchers and clinicians in this space may be small, their impact is immeasurable. To those who stand with us—thank you will never be enough. Congratulations to these two incredible individuals, Michael H. Gelb and Joe Orisni, who continue to push for progress especially in #KrabbeDisease
#krabbeconnect #curekrabbe
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💙 Every step counts toward a cure! 💙
Join us for the 2nd Annual Anywhere Strides to #CureKrabbe, happening October 17–26, 2025. Walk, run, or roll—wherever you are—to honor those affected by Krabbe disease and help drive research forward.
It only takes 4 easy steps to sign up—scan the code, click “Join Now,” complete brief registration, download app - you are ready to start moving on October 17th for a cause that matters.
Together, we can make strides toward a future without Krabbe disease. 💪
#curekrabbe #RareDisease #WalkForHope #KrabbeConnect #virtualrun #krabbeconnect
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Encouraging news for the Krabbe community — GemmaBio has announced the launch of Rare Therapeutics Inc., a new company focused on developing and delivering gene therapies for ultra-rare diseases, including Krabbe disease.
At this time, no additional details have been released about the timeline or specific plans for Krabbe. As always, KrabbeConnect will continue to share accurate, timely updates with our community as more information becomes available.
This announcement brings hope, but details about when work will begin for Krabbe disease have not yet been shared.
#curekrabbe #krabbeconnect #genetherapy
www.prnewswire.com
/PRNewswire/ -- Gemma Biotherapeutics ("GEMMABio") – a leading global genetic medicines company today announced the launch of Rare Therapeutics, Inc....3 CommentsComment on Facebook