Discover this podcast and so much more

Podcasts are free to enjoy without a subscription. We also offer ebooks, audiobooks, and so much more for just $11.99/month.

A Waiting Game & Another Diagnosis

A Waiting Game & Another Diagnosis

FromPatient Stories with Grey Genetics


A Waiting Game & Another Diagnosis

FromPatient Stories with Grey Genetics

ratings:
Length:
69 minutes
Released:
Dec 12, 2023
Format:
Podcast episode

Description

After losing her first son Alex at only 10 months of age to a rare genetic condition, Jill and her husband went on to have four more children. Jill’s youngest daughter, Katie, was always small from birth. By the time she was 15 months old, it was obvious that Katie’s growth was significantly delayed. By age 2, she had started on human growth hormone. At the time that we recorded this interview in 2021, Katie was 5 years old and had a suspected diagnosis of Russell Silver syndrome. Katie has since had genetic testing done and has been diagnosed with 22q Deletion syndrome. Jill shares how her experience with Alex meant that with each of her children, she felt like she was waiting for the other shoe to drop. She also discusses how her experience with Alex prepared her to be an excellent advocate for Katie.

Links and Resources
The Magic Foundation 

To hear part one of Jill's story about her first child, Alex, listen to the last episode: Breaking Taboos & Leaving Room for Grief

Check out other Patient Stories podcast episodes.
Read other Patient Stories on the Grey Genetics Patient Stories Page.

Interested in digging deeper into the professional issues raised in the podcast? Consider joining the Patient Stories Club!
Do you want to support Patient Stories? You can make a donation online!
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. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.
Looking for a place to collect your family history and share with relatives? Check out the FamGenix app.
Grey Genetics is no longer active on social media. To receive occasional email updates, sign up for our mailing list. 

---

Send in a voice message: https://podcasters.spotify.com/pod/show/patient-stories-with-grey-genetics/message
Released:
Dec 12, 2023
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.