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Wilson Disease: When early diagnosis makes all the difference

Wilson Disease: When early diagnosis makes all the difference

FromPatient Stories with Grey Genetics


Wilson Disease: When early diagnosis makes all the difference

FromPatient Stories with Grey Genetics

ratings:
Length:
31 minutes
Released:
Jun 25, 2019
Format:
Podcast episode

Description

When Abigail Patenaude was 16 years old, routine blood work showing elevated LFTs (liver function tests) led to a diagnosis of Wilson Disease, an autosomal recessive condition which is more often diagnosed much later in life (if at all) after hepatic or neurological symptoms caused by an accumulation of copper in the body. Abigail discusses why an early diagnosis of Wilson Disease was so lucky and how her experience with genetic counseling as a patient led her to pursue a career in genetic counseling. At the time that we recorded this interview, Abigail was nearing graduation from Sarah Lawrence College with a Masters in Human Genetics. What has surprised her the most in her training? That things are rarely straightforward in genetic counseling!



Links and Resources

Wilson Disease Association


Connect with the Wilson Disease Association on Social Media:

Wilson Disease Association on Twitter: @wilsondisease

Wilson Disease Association on Facebook


Do you also have Wilson Disease? Send Abigail an email!



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Are you looking for genetic counseling?
Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. Choose from our growing Network of Genetic Counselors. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Released:
Jun 25, 2019
Format:
Podcast episode

Titles in the series (92)

Genetics isn’t always black and white. And the emotions and decisions surrounding genetic testing can be even more complex. Hosted by genetic counselor Eleanor Griffith, the show brings you the personal experiences of patients and genetic counselors.