One patient’s journey with genetic testing and Charcot-Marie-Tooth disease

Bethany

“I heard there is something called the neuropathy score,” I said to my neurologist. “It’s supposed to grade how severe your disease is.”

“That’s correct,” she said. “It’s on a scale from 0 to 36. Zero being unaffected.”

“Do I have a score?”

“Yeah, every patient in our clinic who…

Two years after Naya started missing developmental milestones — and nearly a year after a neurologist first suggested genetic testing — her family finally has answers.

Naya with her family

When Alexis’s fourth child, Naya, started missing developmental milestones in her first few months of life, her pediatrician wasn’t worried. Even as she missed milestone after milestone, he encouraged Alexis to be patient and let Naya develop in her own time.

For her 18-month check-up, Naya saw a nurse practitioner…

De cómo unas “señales de advertencia” en unos antecedentes médicos ayudaron a una familia a hacerse cargo de un cáncer hereditario.

“Ahora ellos mismos pueden tomar sus decisiones en vez de dejar que el cáncer decida.” — Monica

La historia de Monica

En el 2019, Mónica Quiroga se estaba alistando para irse a unas vacaciones muy esperadas de Costa Rica a Estados Unidos, España y Ucrania, cuando se descubrió un bulto en la mama.

“La…

How health history “red flags” helped Monica’s family take charge of hereditary cancer.

An unexpected result

Monica was preparing for an international vacation, from her home in Costa Rica to the US, Spain, and Ukraine, when she found a lump in her breast.

“I really didn’t expect it to be cancer,” she says. “Both my parents and my husband are doctors, so I’m very practical when…

How genetic testing helped this patient reduce her risk of breast cancer

Without Invitae’s cancer screen, Jenna would not have learned she has an increased risk of breast cancer. After receiving her results, she started getting mammograms 7 years ahead of schedule. Hear more about the steps Jenna is taking to reduce her risk.

Read the full transcript here:

INTERVIEWER: Why…

How this adopted woman found a sense of control over her family’s future health using genetic testing.

For Liz Brown, being adopted meant that she always had questions about her, and her daughter’s, health history. Diagnosis through genetic testing answered an important lifelong question for Liz and gave her control of her family’s health and future.

Liz with her daughter.

Read the full transcript here:

[MUSIC PLAYING]…

The unexpected way Stefanie found closure after a miscarriage

Connect with Stefanie on Instagram at www.instagram.com/Bumps2BabiesRN

As a nurse, I consider myself well-educated when it comes to my medical options. But when I found out my pregnancy was no longer viable, I was shown the exit to the emergency room without being given any information on what I could do to get closure.

I felt like…

Invitae

Invitae Corporation is a genetics company committed to providing genetic information to help inform healthcare decisions throughout all stages of life.

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