Patient Stories with Grey Genetics

As a newborn, Anne Fricke’s second daughter Freya had trouble nursing, slept really soundly, and had hypotonia (low muscle tone). At three and a half months of age, Freya was diagnosed with Prader-Willi syndrome. Anne shares her family’s experience with Freya’s initial diagnosis, how she found support within the Prader-Willi community, and what their challenges are now that Freya is 8 years old. Anne also shares how she has used writing and poetry to help process her feelings and how this led her to start her podcast, Walking With Freya.

Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show.

Links and Resources

Anne Fricke’s website

Walking With Freya podcast episodes

Anne’s poem “Kintsugi”

Purchase the writing journal Anne created: There Is Joy To Be Found Here; a writing journal for parents of children with special needs

Prader-Willi California Foundation (PWCF)

Prader-Willi Syndrome Association (USA)

Follow Anne’s podcast Walking with Freya on Social Media:

Walking with Freya on Instagram: @walkingwithFreya

Walking with Freya on Facebook

Check out other Patient Stories podcast episodes.

Read other Patient Stories on the Grey Genetics Patient Stories Page

Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.

Patient Stories on Twitter: @GreyGeneticsPod

Patient Stories on Instagram: @patientstoriespodcast

Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Tracy Milgram-Posner learned that she carried a BRCA2 mutation when she was just 21 years old. In the pre-Angelina Jolie era, feeling alone and isolated, she started a FacebookGroup, BRCAStrong, which has since grown into a 501(c)(3) non-profit whose mission is “To support, educate, inspire and empower Previvors and Survivors. To eliminate the feeling of isolation and help them feel whole again.” 

Tracy shares how learning she had a BRCA2 mutation at such a young age impacted her life decisions;  how she feels she wasn’t given enough education related to the effects of having her ovaries removed at just 32 years old; how helpful telehealth genetic counseling was for her even years after her diagnosis—and how she wished she had received the benefit at the time of her diagnosis; and how she navigates talking to her young children about BRCA-related risks. (Spoiler: She gives a big shoutout to Proactive Genes!)

Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show.

Links and Resources

BRCAStrong

Proactive Genes

My Gene Counsel

Connect with BRCAStrong on Social Media:

BRCAStrong on Instagram: @brcastrong

BRCAStrong on Facebook

BRCAStrong on YouTube

Read other Patient Stories on the Grey Genetics Patient Stories Page

Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.

Patient Stories on Twitter: @GreyGeneticsPod

Patient Stories on Instagram: @patientstoriespodcast

Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Embree Ray Alexander was born June 11, 2017 and was healthy and happy for the first part of her life. Around seven months of age, it started to become clear that something was wrong. An MRI of the brain suggested a type of leukodystrophy, initially thought to be Tay Sachs disease. At eleven months of age, she was diagnosed with Sandhoff disease, an autosomal recessive condition that presents the same as Tay Sachs but is more rare.

Embree’s parents, Caitrin and Kyle, were told that Embree’s life expectancy would be about two, possibly three years. Her disease progressed quickly, and they lost their daughter at just 15 months of age. Caitrin and Kyle love remembering Embree and are passionate about raising awareness for Sandhoff and other allied diseases. Since we recorded this interview, Caitrin has become pregnant through PGD (Preimplantation Genetic Diagnosis) and IVF, with support from Baby Quest, and is expecting a baby who has already tested negative for Sandhoff disease in July 2020.

Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show.

Links and Resources

Embree's page on NTSAD & The Embree Alexander Fund

National Tay-Sachs & Allied Diseases Association (NTSAD)

BabyQuest Foundation

Read other Patient Stories on the Grey Genetics Patient Stories Page

Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.

Patient Stories on Twitter: @GreyGeneticsPod

Patient Stories on Instagram: @patientstoriespodcast

Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here

Erika and Garin were 30 weeks into a complicated pregnancy when they learned that their pregnancy was not viable. Erika was denied an abortion due to New York’s 24 week cut-off so the couple travelled to Colorado to terminate her pregnancy. Their experience with New York’s abortion law, and the realization about how others were affected by it, led them to share their story publicly and advocate for reform.

They founded the RHAvote campaign, the grassroots home for the Reproductive Health Act (RHA), a bill that decriminalized abortion in New York and brought the state’s regulation of abortion in line with Roe vs Wade. They worked alongside a statewide coalition, and in January 2019, New York finally passed the RHA after being stalled for almost a decade.

After seeing the power of patient narratives first hand, they began organizing later abortion patients across the country (PatientForward.org). They are also parents to a 2½-year-old-daughter, Pepper.

Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show.

Related Links and Resources

PatientForward

RHAvote.com

Erika & Garin on Twitter: @RHAVote

Tolentino, Jia. “Interview With a Woman Who Recently Had an Abortion at 32 Weeks.” Jezebel. June 15, 20216.

Tolentino, Jia. “How Abortion Law in New York Will Change, and How It Won’t.” The New Yorker. January 19, 2019.

The New York Times Editorial Board: A Woman’s Right (Series). The New York Times. December 28, 2018.

Tolentino, Jia. “Interview with Dr.” The Hairpin. September 20, 2013.

Check out other Patient Stories podcast episodes.

Read other Patient Stories on the Grey Genetics Patient Stories Page

Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.

Patient Stories on Twitter: @GreyGeneticsPod

Patient Stories on Instagram: @patientstoriespodcast

Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Today, between episodes of Patient Stories, we are sharing an episode with you from another podcast that we think some of our listeners may enjoy: Walking with Freya, hosted by Anne Fricke.

In this 53rd episode of Walking with Freya, Anne interviewed me about genetic counseling. We talked about the kind of work that genetic counselors do, some of the reasons people see a genetic counselor, and differences between an MD Geneticist and a Genetic Counselor.

Walking with Freya is a podcast that Anne created to share her story of raising a daughter with Prader-Willi Syndrome, and to give space for other parents and caregivers of children with special needs to tell their stories. Check out her episodes to date here! 

I also interviewed Anne about her experience with her daughter’s diagnosis of Prader-Willi syndrome. Watch for that episode to come out in March!

Walking with Freya on Instagram: @walkingwithfreya

Julie McConnel was in her mid 40s and hoping for a little girl to complete her family. Instead…. She had twin boys with Down syndrome. Julie shares her grief over the diagnosis, her concerns about whether or not she and her husband could handle twins with Down syndrome and their hesitation to parent—and how she now couldn’t imagine her life without Charlie and Milo.

Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show.

Links and Resources

Julie’s story on the NDSAN blog

Julie’s guest blog post on Cedars Story: Changing Perceptions of Down Syndrome

The National Down Syndrome Adoption Network

National Down Syndrome Society

Down Syndrome Diagnosis Network

Kids’ Waivers: information on Katie Beckett and other similar programs

Born This Way: a TV series that follows a group of seven young adults with Down syndrome

“Genetic Testing and the Rush to Perfection,“ National Council on Disability, October 23, 2019.

Follow Charlie and Milo on Social Media:

Charlie and Milo on Instagram: @chucklesandmeatloaf

Charlie and Milo on Facebook

Mitigating Misinformation: Spreading Awareness for Down syndrome

NIPS: More Than Just a Sex Reveal

Adoption as an Option: The National Down Syndrome Adoption Network

Check out other Patient Stories podcast episodes.

Read other Patient Stories on the Grey Genetics Patient Stories Page.

Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.

Patient Stories on Twitter: @GreyGeneticsPod

Patient Stories on Instagram: @patientstoriespodcast

Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Stephanie Thompson still vividly remembers when her son Christopher, now 27 years old, received a diagnosis of Down syndrome. As a young woman and a first time mother, the diagnosis came as a shock. What she wishes her younger self knew? That it would be okay. Stephanie worked for eleven years in many different roles within the Down Syndrome Association of Greater Cincinnati and has deep insights into when, where and how a diagnosis of Down syndrome is given to parents and how this can be handled better. Today, Stephanie is the Director of the National Down Syndrome Network (NDSAN), whose mission is to ensure that every child born with Down syndrome has the opportunity to grow up in a loving family.

Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show.

Links and Resources

National Down Syndrome Adoption Network

Resources for Patients

Resources for Medical Professionals

Stephanie’s blog post on the Grey Genetics News Corner: Adoption as an Option: The National Down Syndrome Adoption Network

Stephanie’s interview on The Lucky Few podcast: Adoption & Down Syndrome w/Stephanie Thompson from the NDSAN

Connect with NDSAN on Social Media:

NDSAN on Instagram: @ndsan321

NDSAN on Twitter: @dsadoption

NDSAN on Facebook

NDSAN on LinkedIn

“National Council on Disability Recommends More Regulation of NIPT.” Genome Web, October 23, 2019. 

Genetic Testing and the Rush to Perfection, National Council on Disability, October 23, 2019.

Leave us a review on iTunes

Patient Stories on Twitter: @GreyGeneticsPod

Patient Stories on Instagram: @patientstoriespodcast

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.

Patient Stories is taking a break this week for the holidays. We'll be back in 2020 with new episodes. 

Check out all of our Patient Stories podcast episodes.

Read other Patient Stories on the Grey Genetics Patient Stories Page

Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.

Patient Stories on Twitter: @GreyGeneticsPod

Patient Stories on Instagram: @patientstoriespodcast

Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Georgia Hurst lost one brother to colon cancer when he was only 36 years old. When her second brother was diagnosed with colon cancer, he had genetic testing done and tested positive for MLH1-associated Lynch syndrome. Georgia went on to also test positive for Lynch syndrome. While she credits her Lynch syndrome diagnosis with ensuring regular and life-saving colonoscopies, her total hysterectomy had significant consequences for her health. Georgia shares insights on the repercussions of removing the ovaries as well as on the need for genetic testing to be approached thoughtfully, with an eye toward medical actionability for the individual.

Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show.

Links and Resources

Blog posts by Georgia in Cure magazine

NSGC’s tool: Find a Genetic Counselor 

Schedule a genetic counseling appointment through Grey Genetics

Georgia’s interview on the DNA Today podcast

Georgia’s interview together with Ellen Matloff on the We Have Cancer podcast

Connect with Georgia on Social Media:

Georgia on Twitter: @_GeorgiaHurst

Follow #GenCSM 

Kamp, Bailey, “Unearthing The Past That Could Affect Your Future: How Family Health History Could Change Your Life.” Grey Genetics News Corner Blog post. 

Read more about cancer genetics

Check out other Patient Stories podcast episodes.

Read other Patient Stories on the Grey Genetics Patient Stories Page

Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.

Patient Stories on Twitter: @GreyGeneticsPod

Patient Stories on Instagram: @patientstoriespodcast

Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.

Ann Jeffers Brown has a total of fifteen years’ experience in both clinic and industry. In this episode, she shares a case from early in her career: a late diagnosis of Lynch syndrome. Her experience with a Lynch syndrome patient who missed out on the opportunity of potentially life-saving information, continues to motivate her to this day to spread awareness about the significance of cancer family history, the importance of recognizing patterns of hereditary cancer within a family, and the potential for diagnostic genetic testing to provide different and potentially life-saving medical care.

Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show.

Tools for Collecting Family Health History

FamHis

Surgeon General: My Family Health Portrait

NIH: Families SHARE

Family HealthLink

TapGenes

Links and Resources

Grey Genetics News Corner blog post: Why Have You Never Heard of Lynch Syndrome?

NSGC’s tool: Find a Genetic Counselor 

Schedule a genetic counseling appointment through Grey Genetics

Order a family history review through Grey Genetics

Connect with Ann on LinkedIn

Read other Patient Stories on the Grey Genetics Patient Stories Page

Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media.

Patient Stories on Twitter: @GreyGeneticsPod

Patient Stories on Instagram: @patientstoriespodcast

Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.