KrabbeConnect

2 weeks ago

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In honor of Leukodystrophy & Newborn Screening Awareness Month 🧡💙

This is what early identification can look like.

Meet twins Brendan and Trevor. They were diagnosed with Krabbe disease through Pennsylvania’s newborn screening program—before the disease had the opportunity to cause the devastating progression so many families have experienced.

Their early diagnosis gave their family something incredibly important: time and options. They were able to quickly connect with Krabbe specialists, undergo stem cell transplantation, and later participate in the investigational FBX-101 gene therapyA type of therapy that offers hope and promise for a cure for many genetic disorders.  A working copy of the gene replaces the non-working copy of the gene. Gene therapy is at the forefront of many tr clinical trialA clinical trial is research designed to understand the safety and efficacy of a drug, biologic or device.  There are 4 phases to most clinical trials from Phase 1 that seeks to answer safety concerns. The boys were among the first children treated in the trial’s low-dose cohort. Early clinical reports from that cohort described increased GALCA specific enzyme that receives its instructions from the GALC gene. When the GALC gene isn’t working properly, the enzyme, galactocerebrosidase, is unable to break down certain fats called galactolip More activity, reduced psychosineDue to the enzyme deficiency in Krabbe disease, psychosine accumulates in the nervous system of affected individuals. Psychosine, a galactolipid, is a cytotoxic type of lipid, that has destructive pro, and encouraging motor and brain-development findings.

Today, their parents describe them as doing very well physically—and their story is a powerful reminder of why we fight for newborn screening.

Early identification creates time.
Time creates options.
And options create hope.

This is why newborn screening matters. 🧡💙

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KrabbeConnect

3 weeks ago

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Meet Slade💙

Like many babies with infantile Krabbe disease, Slade appeared healthy at birth and began reaching milestones. Around four months old, his parents, Jacob and Ashley, began noticing changes—irritability, loss of neck control, and no longer reaching for toys.

But Krabbe disease is more than symptoms, appointments, and medical care. It changes what a family imagined their child’s future would look like.

Ashley shares something she wishes more people understood:

“The anticipatory grief as you look at your baby and know you'll never get to watch him crawl, cheer on his first steps, or hear his little voice call for you.”

Those words are difficult to read—but they are important to hear.

This month, we honor Slade and every child and adult living with a leukodystrophy. We honor the parents, siblings, and families walking beside them. And we keep pushing for earlier diagnosis, better treatments, more research, and ultimately, a cure.

💙 My name is Slade. I am so strong.

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