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Вміст надано Grey Genetics. Весь вміст подкастів, включаючи епізоди, графіку та описи подкастів, завантажується та надається безпосередньо компанією Grey Genetics або його партнером по платформі подкастів. Якщо ви вважаєте, що хтось використовує ваш захищений авторським правом твір без вашого дозволу, ви можете виконати процедуру, описану тут https://uk.player.fm/legal.
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Sandhoff Disease & A Spirit That Lives On

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Manage episode 310287077 series 3051496
Вміст надано Grey Genetics. Весь вміст подкастів, включаючи епізоди, графіку та описи подкастів, завантажується та надається безпосередньо компанією Grey Genetics або його партнером по платформі подкастів. Якщо ви вважаєте, що хтось використовує ваш захищений авторським правом твір без вашого дозволу, ви можете виконати процедуру, описану тут https://uk.player.fm/legal.

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

Check out other Patient Stories podcast episodes.

Read other Patient Stories on the Grey Genetics Patient Stories Page

Do you want to support Patient Stories? You can now make a donation online!

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

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.

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

--- Send in a voice message: https://podcasters.spotify.com/pod/show/patient-stories-with-grey-genetics/message
  continue reading

92 епізодів

Artwork
iconПоширити
 
Manage episode 310287077 series 3051496
Вміст надано Grey Genetics. Весь вміст подкастів, включаючи епізоди, графіку та описи подкастів, завантажується та надається безпосередньо компанією Grey Genetics або його партнером по платформі подкастів. Якщо ви вважаєте, що хтось використовує ваш захищений авторським правом твір без вашого дозволу, ви можете виконати процедуру, описану тут https://uk.player.fm/legal.

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

Check out other Patient Stories podcast episodes.

Read other Patient Stories on the Grey Genetics Patient Stories Page

Do you want to support Patient Stories? You can now make a donation online!

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

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.

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

--- Send in a voice message: https://podcasters.spotify.com/pod/show/patient-stories-with-grey-genetics/message
  continue reading

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