example of diseases i have a decreased risk for:


elevated risk


the breast/ovarian cancer gene results w/ explanation:


the star ratings are as follows:
**** Established Research. At least two studies examined more than 750 people with the trait or condition and/or the associations are widely accepted in the scientific community. The reports may cover rare conditions or include variants that do not greatly influence a person's absolute lifetime risk for a condition.
***Preliminary Research. More than 750 people with the condition were studied, but the findings still need to be confirmed by the scientific community in an independent study of similar size.
**Preliminary Research. Fewer than 750 people were studied. Multiple large studies are needed to confirm these findings.
*Preliminary Research. Fewer than 100 people were studied. Multiple large studies are needed to confirm these findings.

there are a lot more results below these, i just put a small sample that included the yellow starred ones.

5/4/2011 11:08:01 AM

You do realize they didn't test you for the typical BRCA genes, right? 23andMe only tests for the unpatented mutations, aka the ones found commonly in the ashkenazi jewish population. Myriad holds the patent for the real BRCA1 and 2 testing (because they discovered some of the original mutations), and you can only go through them. The test costs around $3000 and insurance will only cover it in certain situations (I.e., family history where a member had breast cancer or is BRCA 1 or 2 positive, and even if someone had it they prefer that person be tested first, or they'll do it if you had it). I think their patent runs out this year or next, but currently they are the only lab that can test for the common mutations and panels, and report variants of unknown significance.

The bad thing about DTC testing companies is they all test for different markers. So you could go to another major one and get different results.

And as for these DTC tests and Alzheimer's, they can tell you nothing of value because the testing is so new hardly anyone does it, and it's usually only during clinical trials or research studies.

This is why DTC tests are starting to come regulated or at least offer a genetic counseling service... the results can be very misleading. Sometimes they can be helpful but I think people are thinking they're getting way more than what they are.

To be honest, I hate that they call someone who has a mutated BRCA copy a carrier. That term is usually reserved for autosomal recessive diseases because a carrier is typically someone who shows no symptoms or very slight symptoms.

[Edited on May 4, 2011 at 11:36 AM. Reason : .]

5/4/2011 11:29:12 AM

that's why i included this part of my post

Quote :

"it's more for your personal interest/use kind of thing"

there are tons of disclaimers & mess all over the site that explain that whatever test you're looking at isn't the be-all end-all, not for diagnostic purposes, for research & education only, etc etc. it's just interesting information to have. i never went into this thinking it was anything beyond something of entertainment value. i did want to connect with other people who have myasthenia gravis though.

back on topic. this thread isn't about breast cancer, 23andme, etc. sorry to detract from your stuff here Jaybee1200

[Edited on May 4, 2011 at 11:46 AM. Reason : ]

5/4/2011 11:41:13 AM

She's doing better today! A lot better. Apparently it was a very minor stroke, and the problems were more due to her being in an unusual space (the hospital) and the sedatives they had to put her on to do tests. She's still not normal or even close to it obviously, but she's walking today, feeding herself, knows who I am, reading, listening to music etc. She couldn't do any of that as of last night. Obviously the long term forecast is as shitty as ever, but this recent episode seems to have passed. She just neeed a night of manly cuddling. The men of my family have mad cuddle skills

5/4/2011 11:51:25 AM

My grandfather had it before he passed. It was extremely hard on my mom and grandmother. He would not remember my mom sometimes, think my sister was a nurse, etc. He always knew my grandmother though. He was a war veteran and I remember one time we were on a plane flying to New Orleans and he forgot where he was and thought he was somehere in the war and began screaming that the Japs were coming to get him. That was scary. I do remember one time my sister, Mom, Dad and myself all went to visit him(the last time I saw him alive) and he did not recognize anyone. Everyone was so upset because we knew he was dying. But then I go up to him, and I tell him who I am. He must've have remembered me because his eyes lit up and he grabbed my hand and pulled me to him. Then he whispered in my ear that he loved me. I never told anyone what he said because I did not want to hurt anyone's feelings. But it made me really happy and I will always cherish that memory.

5/4/2011 11:53:03 AM

Glad to hear that, Jaybee

5/4/2011 12:02:34 PM

^^^that's good news. i know my grandfather, who had severe dementia, would go crazy when you took him to the hospital. he would start saying things that made no sense at all, get angry at people, not recognize people, etc. once you moved him out, he'd go back to normal (his version of normal anyway). he would also do what my mom said was called sun-downing. he's go crazier when the sun set. it was odd.

5/4/2011 12:35:58 PM

also, parkinson's disease

[Edited on May 5, 2011 at 12:22 PM. Reason : fdsf]

5/5/2011 12:21:37 PM

what's funny is that you can isolate the brca gene yourself if you had the right materials and expertise. but to get a lab to do it you have to pay out the ass.

5/5/2011 8:13:51 PM

^ The only lab right now that will do the real testing is Myriad, because they were the only ones allowed to for for like 10+ years.

5/5/2011 10:10:00 PM

Quote :

"if you had the right materials and expertise"

Isn't that true for anything? i.e. I could go to outer space with the right materials and expertise.

5/5/2011 10:15:02 PM

we are having "the talk" today about putting mom in a home

7/30/2011 5:53:56 PM

My grandmother has it. My father quit his job to take care of her and I can only imagine how rough it is on a daily basis. She has no idea who anyone is and has basically lost all ability to communicate.

7/30/2011 6:01:09 PM

yeah, I am only here on weekends and it gets to me. But, anything unusual throws her off, like me coming to town... she is definitely usually a lot better when its just her and dad and they are in a routine, but I just hate how it is draining him, hes aged so much

7/30/2011 6:02:53 PM

Bleh.

7/30/2011 6:05:50 PM

http://www.amazon.com/gp/product/B002E9H0YY/ref=kinw_myk_ro_title

If you're discussing putting your mother in a home, 'Caring for Mother' is worth a read. It's about the author's experience with putting her mother in the nursing home for dementia. I read it when my grandmother deteriorated to the point where I could no longer care for her by myself and she began having episodes of Sun Downers while in the hospital. The book was very helpful and helped me know what to expect while she was in the nursing home.

7/30/2011 6:38:24 PM

god damn that sucked. Never seen my dad and brother bawling their eyes out.

7/30/2011 10:51:52 PM

I'm pretty sure my mom is getting Alzheimer's. We have conversations and then a couple days later she has no recollection of them. Her dad has it as well, so I'm really hoping that I don't get it. It's really scary to think about.

As an aside, I really hate it when people pronounce it "Old Timer's" completely seriously like they really think that's what it is. These are college educated people too...grrr.

[Edited on July 30, 2011 at 11:04 PM. Reason : ^^ "The Almost Moon" by Alice Sebold is another good read. ]

7/30/2011 11:03:49 PM

So sorry to hear about this. My grandmother has it too. It can be really hard taking care of someone with this disease at home Hopefully there will be a cure soon. I saw an article that scientists are developing a blood test that can detect it years before people have symptoms. Here is a similar article: http://www.webmd.com/healthy-aging/news/20110721/study-blood-test-detects-early-alzheimers

7/31/2011 12:50:52 AM

To the OP

Man, I'm really sorry.

It's difficult to even say something consoling.

...

but she's a little better?

that's good

8/1/2011 12:10:35 AM

man, when mom has a good day you have no idea how good it feels, shes so cheerful, positive and happy, really brightens my day up. Hit a rough stretch there for a while but last 3-4 days have been really good

9/10/2011 12:29:00 AM

sorry to hear that man. my gramma had it, and it sucked every step of the way.

I will to say to hang around, because at one point, right near the end, she'll have a good and clear 30-45 minutes, and you'll want to be there for that, as morbid as it sounds.

9/10/2011 12:43:15 AM

hang in there Jaybee

9/10/2011 3:33:31 AM

Trying. As I said before, it hits me really hard whenever I go home, which I try to do as much as possible to relieve dad some. But god damn it's depressing.

9/16/2011 3:15:03 AM

I work in an Assisted Living and have seen so many people suffer with Alzheimers. I've seen people go from being very intelligent to very childlike quickly. It's hard when you get close to them, but it's good to know you are providing care to someone who needs it.

On the flip side my grandmother also has some form of dementia. She stills knows who we are (at least connections - not sure she always knows names), but her short term memory is entirely shot. You can visit her in the morning and by the afternoon she'll forget you've been there. It's a hard disease to see someone go through.

9/16/2011 10:47:45 PM

Alzhemiers walk is oct 1st. alznc.org

9/19/2011 8:47:51 AM

ugh, Dad had to put mom on a waiting list for a nursing home today and broke down telling me on the phone. Second time I have known him to cry in my life. What a day.

10/4/2011 7:14:33 PM

My grandfather had it and passed in 2003. He had dementia and alzheimers, which was a double whammy... His mother had it and it's genetic in my family. Apparently, it's passed from the mother's side...so be careful!

10/4/2011 8:26:02 PM

taking care of mom this weekend to give dad a break... I got her all comfortable on the couch and told her i loved her and she said "its obvious you love me"

whew, I am a cynical asshole but holy shit if that didnt make me tear up a bit

11/6/2011 2:51:42 PM

Monday is the day that we've been dreading. Shes so far gone that I think she will be ok, at least I hope so... its dad that I'm worried about. Hes going to be lonely as shit and I really hope he doesnt feel like he let her down or something, hes handled this for 15 years and done better than anyone could imagine. We are going to try to keep him busy as we can, get him to come down to Atlanta to visit for weeks at a time, fly to see old friends, etc.

11/12/2011 3:31:18 AM

I hope goes well. I can't imagine being in that position

11/12/2011 9:10:23 AM

Your story is heart wrenching but so grateful you shared. I want to just hug you. Glad to know a cynical smart ass like yourself is such a sweet soul.

[Edited on November 12, 2011 at 10:20 AM. Reason : r]

11/12/2011 10:20:25 AM

Quote :

"Hes going to be lonely as shit and I really hope he doesnt feel like he let her down or something, hes handled this for 15 years and done better than anyone could imagine."

If he's like my grandfather, he'll probably feel like he let her down at first but he'll eventually come to terms with it and accept it

11/12/2011 10:29:52 AM

Apparently my Grandma's sundowning is getting worse every day.

Blah, I don't want to go home ever - I don't know how my dad deals.

11/12/2011 10:53:25 AM

Sorry to hear you're going through this, Jaybee... I agree with punchmonk

And on a side note, this:

Quote :

"Apparently, it's passed from the mother's side...so be careful!"

is not true. If you don't have the early-onset autosomal dominant form (very rare), it is polygenic and multifactorial... but it doesn't discriminate for the sexes.

11/14/2011 12:22:51 AM

Any experience with transient global amnesia...?

The actual event is pretty scary, but I'm curious about lasting effects anyone may have experience with.

11/21/2011 4:54:37 PM

mom cant swallow and hasnt had hardly any food or liquid for 2 days so they had to put in an IV but she pulled it out and the nursing home doesnt have the staff to watch her 24 hours a day so we are having to do it... about to go cover the midnight to 9am shift. Think we are going to have to start paying for 24 hour one on one home care.

12/25/2011 12:19:14 AM

They do have therapists to help (coax) people into chewing and swallowing food (if the person is still actually able to do so).

Do you know if she wants (or would want) a feeding tube?

[Edited on December 25, 2011 at 8:33 PM. Reason : Sucks.]

12/25/2011 8:31:13 PM

my grandmother's care plan even requested that we not place an iv once she stopped drinking. The refusal of food and water is a natural part of dying and some people would rather let their disease take its course.

12/25/2011 8:52:02 PM

Yeah, I think a lot of people just want palliative once they can't eat or drink.

12/25/2011 8:59:50 PM

well that failed miserably. She lost 26lbs in a month, regressed horribly, and dad was miserable as hell without her at home. We are taking her home tomorrow with some combination of at home care.

12/29/2011 2:39:37 AM

Good luck man!

12/29/2011 11:52:12 AM

sorry to hear about it getting worse, man. sucks that it's gotta be the holidays, too.

12/29/2011 12:46:23 PM

I don't know you jaybee but you and your family will be in my prayers tonight. I cried reading page one and had to take a break before reading page 2.

Please keep us updated. I'm hoping for a miracle

12/29/2011 11:00:07 PM

Thanks everyone. But the more i read about it the more it appears shes in the late stages and doesn't have long left. I am almost resigned to that fact but god it kills me to see my dad affected.

12/31/2011 7:01:55 AM

sorry Jaybee

your Internet is thinking about you

wishing you comfort and peace

12/31/2011 7:55:22 AM

*bump*

Shannon needs lots of e-hugs right now.

1/10/2012 6:45:47 PM

many e-hugs..

1/10/2012 6:54:10 PM

Sorry Shannon. I know you loved your momma the most. Take good care of your dad now.

My stepfather in law or whatever. Has been diagnosed with parkinsons, Alzheimer's, and a brain deseass called psp. I forget the actual name. He also has early stage of luekemia. They give him 7-10yrs. It's crazy sad. He was a bright man. You can tell he's giving up. He's getting loose ends tied together. Our biggest fear is he's going to commit suicide. He talks like he will. Bfs mom is all distraught. Sad stuff.

1/11/2012 12:28:26 AM

I dont know what's going on but every time I visit this thread my heart hurts

1/13/2012 12:33:23 AM