02/28/2026
💙🦓 Rare Disease Day – Show Your Stripes 🦓💙
Today we honor our rare girl — Macayla.
Macayla has Cohen syndrome, a congenital (present at birth) genetic condition first described in 1973 by Dr. M.M. Cohen Jr. Fewer than 1,000 individuals worldwide have been diagnosed.
Dad and I are both carriers — Dad has a deletion and I have a mutation — and together that resulted in Cohen syndrome being inherited in an autosomal recessive pattern.
Cohen syndrome can include: • Hypotonia (low muscle tone)
• Intellectual disability
• Distinctive facial features
• Retinal dystrophy (progressive vision loss)
• Progressive high myopia
• Differences in hands and feet
• Obesity risk
• Developmental delays
It is often linked to mutations in the VPS13B (COH1) gene. There is no cure — treatment focuses on supporting symptoms and helping individuals thrive in the ways that are uniquely theirs.
Macayla also has chronic congenital neutropenia, meaning her body does not produce enough white blood cells to fight infection. Her strength includes not only perseverance but weekly injections, constant monitoring, and more bravery than most adults will ever know.
But here’s what a diagnosis doesn’t capture:
Her joy.
Her resilience.
Her humor.
Her sparkle.
Her ability to teach us what really matters.
She may be rare — but her impact is mighty. 💙
Today we wear stripes for the zebras.
We advocate.
We educate.
We celebrate.
In honor of Rare Disease Day, this is our rare daughter — Macayla. And we are so proud to be her parents.
🦓💙
