The Road to Diagnosis

Getting the Diagnosis: How do we deal with this? Can this even happen?
Sarah, Ph.D., MPH, LP is a pediatric psychologist, wife of John and mom to twin girls, Molly and Emma. Molly was diagnosed at the start of the Covid pandemic with the rare occurrence of TWO pediatric cancers -Acute Lymphoblastic Leukemia and Neuroblastoma.
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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

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.

The Diagnostic Odyssey: It never occurred to me that it would be fatal.

Apnea, aspiration: Suddenly learning my baby is having trouble breathing, and we don’t know why

We felt we better step up and show her that she picked the right parents.

Sanfilippo: The road to diagnosis

So I started questioning …. And it was devastating.
