The Road to Diagnosis
1 / 18
A traumatic beginning at 26 weeks. Mom: “As long as you're willing to fight, I'm here to fight with you.”
A diagnosis of Krabbe; and the medical team getting to meet him before his condition progressed.
A prenatal diagnosis of Congenital Diaphragmatic Hernia and living into an uncertain prognosis
Sydney has totally changed the way I look at life: there’s gratitude, and also the flip side.
Getting the Diagnosis: How do we deal with this? Can this even happen?
Learning our son had a rare genetic disease: It was a whirlwind.
The diagnosis didn’t change anything. We were still just treating symptoms.
Microcephaly Capillary Malformation Syndrome: 13th diagnosis in the world
Mom’s instinct is right: A diagnosis of Polymicrogyria
The Diagnostic Odyssey: It never occurred to me that it would be fatal.
We felt we better step up and show her that she picked the right parents.
A mom: “No matter how blindsided you feel, you will get through it. You are strong enough.”
The road to diagnosis … Do we wish we had known earlier? (CLN2/Batten)
Docs didn’t look at the Whole Child: It took a year to get the Hurler diagnosis.
Apnea, aspiration: Suddenly learning my baby is having trouble breathing, and we don’t know why
Sanfilippo: The road to diagnosis
So I started questioning …. And it was devastating.