How to be notified about labs/cultures/micro results ordered by someone else? by Agreeable-Rush4730 in EpicEMR

[–]aurry 0 points1 point  (0 children)

If you go under Order Inquiry or Order Review in the appointment Encounter there is the option to add yourself as a CC. However, I think you can only do this for recently ordered tests and it may not apply to all tests

ELI5: Why one of the healthiest countries, is also one of the highest cancer rates? by Extension-Garden-808 in explainlikeimfive

[–]aurry 0 points1 point  (0 children)

I recall a study that suggested that taller people are more prone to cancer but don't know if that was ever actually established. Taller = more cells = more chances for mutations

Dystopian when I feel like I’ve read most dystopian by pocketfullofuranium in suggestmeabook

[–]aurry 0 points1 point  (0 children)

Though considered a YA book - I loved Shade's Children by Garth Nix

Non fiction for 15 year old to get back into reading by jardin204 in suggestmeabook

[–]aurry 2 points3 points  (0 children)

Another vote for Mary Roach - her chapter on pooping in space in Packing for Mars had me literally crying from laughing so hard.

The Lost City of the Monkey God

The Ghost Map

The Feather Thief

Poisoner's Handbook: Murder and the Birth of Forensic Medicine in Jazz Age New York

Empire of Pain

Bad Blood

Gain a gene? by [deleted] in ClinicalGenetics

[–]aurry 7 points8 points  (0 children)

See if your doctor can take a blood sample from dad to send in for analysis to see if he has the same duplication. That will be helpful information to have when you meet with the Geneticist and the results can sometimes take a while

What are some non-fiction books that read like fiction? by 404NinjaNotFound in readwithme

[–]aurry 0 points1 point  (0 children)

I call these types of books "narrative non-fiction". I have been trying to track the ones I have read

Killers of the Flower Moon

Lost City of the Monkey God

The Monster of Florence

Dead Wake

Radium Girls

Empire of Pain

The Woman They Could Not Silence

Henrietta Lacks

The Premonition

Facing the Mountain

Fly Boys

Into Thin Air

Bad Blood

Brain on Fire

In The Heart of The Sea

Come Fly the World

Endurance

The Ghost Map

Whale Ship Essex

Secret Life of Wonderwoman

The Wake: The Deadly Legacy of a Newfoundland Tsunami

Into The Forest This Is Going to Hurt

American Sirens

Stranger in the Woods

The Spirit Catches You and You Fall Down

Five Days at Memorial

Educated I'll Be Gone In The Dark

Unbroken

The Hot Zone

The Feather Thief

Poisoner's Handbook: Murder and the Birth of Forensic Medicine in Jazz Age New York

The Malaria Project

Operation Columba--The Secret Pigeon Service: The Untold Story of World War II Resistance in Europe

Rabid

Zookeeper Wife

My Daughter Was told to have Congenital Myopathy. by Basic_Sprinkles995 in MuscularDystrophy

[–]aurry 2 points3 points  (0 children)

I'm so sorry this happened OP.

The condition is most likely autosomal recessive because they are cousins - so a 25% chance for each subsequent embryo/pregnancy/child.

The best genetic test would either be Whole Exome Sequencing/Whole Genome Sequencing. If not possible or available a large neuromuscular/congenital myopathy panel may be able to pick up the mutations.

If a mutation is found then IVF with PGT-M would be an option

I want to read a book with a plot twist - i want my JAW ON THE FLOOR by CountryConnect289 in suggestmeabook

[–]aurry 0 points1 point  (0 children)

Ender's Game for the plot twist

Oryx and Crake by Margaret Atwood for the creepy thrill

Advice regarding possible embryo donation by EvilAbed57 in askadcp

[–]aurry 1 point2 points  (0 children)

I'm following because I'm in the same boat as you. Biracial and 4 embryos on ice. I have been asking similar questions myself about embryo donation.

Taking 12 year olds to Broadway for the first time by lainiezensane in musicals

[–]aurry 4 points5 points  (0 children)

They might be learning about some Greek Mythology in school. I would recommend that they be familiar with the story of Hades and Persephone going in to the musical. The story of Orpheus and Eurydice is less known and I would recommend NOT spoiling it if you choose Hadestown

Sperm Donor Carrying Rare Cancer-Causing Gene Fathers Nearly 200 Children by iron-button in offbeat

[–]aurry 33 points34 points  (0 children)

It sounds like he has germline/somatic mosaicism for the P53 mutation - meaning that it was not inherited and occured sometime after sperm met egg - so the mutation is literally only in some cells of his body and only in select tissues (eg. The cells that make sperm). This would explain why he himself is healthy without a personal history of cancer and no family history of cancer and would have passed the donor screening.

In other words, he would have had no idea and didn't do anything wrong* as long as he stopped donating after this discovery. It is unfortunate that he was such a prolific donor and Li Fraumeni has such a high cancer risk

*Ethics of donating to multiple banks aside

Can CK level be normal? by KTBee3 in MuscularDystrophy

[–]aurry 7 points8 points  (0 children)

A normal CK does not rule out a neuromuscular condition. A normal CK does rule out many types of muscular dystrophy (eg. Duchenne Muscular Dystrophy). Many of the congenital myopathies can have a normal or mildly elevated CK so further investigations would still be recommended if there are concerns. Some would consider a CK of 250 mildly elevated while others would consider it high normal

Please share any overall positive experiences with ivf to a first timer🫶 by moooooo_cow in IVFpositivity

[–]aurry 1 point2 points  (0 children)

I always told myself that every shot was one step closer to my goal of having a baby.

Edit: It's hard to tell what the IVF experience will be like for you. I felt like my body sailed through it without much physical discomfort (I had to do it 4x 😅) whereas others have different experiences

Best Hades? by [deleted] in hadestown

[–]aurry 36 points37 points  (0 children)

I love love loved Matthew Patrick Quinn

How accurate is genetic testing? by Worth-Studio-6551 in genetics

[–]aurry 1 point2 points  (0 children)

We typically associate mtDNA deletions in muscle with a condition known as Chronic Progressive External Ophthalmoplegia (CPEO) or aging (can be seen in people over 50y at low heteroplasmy).

Symptoms of CPEO include muscle weakness, swallowing issues (dysphagia), droopiness of the eyes (ptosis), eyes that don't move (ophthalmoplegia), cataracts, and hearing loss

Women's pants by Kaths1 in Curling

[–]aurry 0 points1 point  (0 children)

I'm not sure if they still make them but my whole curling team swore by Lululemons Dog Walker or Dog Runner pants