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 Genetic testing, expecting first child 
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Joined: Mon May 07, 2007 7:57 pm
Posts: 24
Location: Capital Region, NY
Post Genetic testing, expecting first child
Hi everyone - my husband and I are expecting our first child (I'm at about 8 weeks) and we're extremely excited!

As we embark on the screenings recommended for a 35+ pregnancy (I'm 37), my thoughts turn once again to genetic testing for dementia/LBD. My beautiful mom is now in an advanced care facility (a GREAT place). We first noticed something was wrong in her mid-50s. She's now 64. Given her early onset -- and the fact my maternal g-mother had a type of dementia as well - I'm wondering about getting tested myself. Especially now that it appears we'll have an 18 year old child when I reach the age my mom did when her symptoms began.

To be honest, I'm not sure what I'd do with the information. I already know I have a higher likelihood. I don't think I'd live my life differently, or appreciate it more. When (not if, but when!) preventative drugs become available, I would certainly take them. I am of course concerned about the prospect of passing this terrible disease onto our child.

I'm curious about this wise group's thoughts on genetic testing. Thanks in advance.

p.s. While I'm deeply saddened that my mom will not fully experience the joys of being a grandma, in one of those "make the best of what you have" moments I realized I'll probably need to tell her several times that I'm expecting, and it'll be fun to see her reactions each time! :D We'll be sharing the news with our families around Christmas, end of 1st trimester.

_________________
My beloved Mom, Christina, passed away on April 19, 2011. She was my best friend, 64 years young and had LBD. Her beautiful spirit lives on in her first grandchild, our daughter, who was born just two months later.


Wed Nov 03, 2010 12:44 pm
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Joined: Fri Aug 11, 2006 1:46 pm
Posts: 4811
Location: SF Bay Area (Northern CA)
Post Re: Genetic testing, expecting first child
freeflowing,

Congratulations to you and your husband!

I'd recommend you see a genetics counselor. They can help you explore what info you could learn, how much testing costs, what info can't be determined through testing, what you'd do with the info, and how you feel about all of that.

Other than APOE4 testing, I'm not sure what else is readily available. The alpha-syn genetics test is very expensive (thousands of dollars) and is only available at a few places (and perhaps only to those who have a PD or LBD diagnosis, and perhaps only to those participating in research). There are a few other genetics tests for PD. *Some* -- not all -- of these are part of the 23andme.com genetics test. As someone who doesn't have a PD diagnosis, the cost to you may be several hundred dollars. Even if you do the 23andme.com testing, I'd still recommend seeing a genetics counselor.

I strongly encourage you to consider donating your mother's brain for analysis upon her death. These arrangements have to be made in advance. It's the only way to get a confirmed diagnosis (and it sounds like something may be going on in your family) and the tissue is utilized for research.

Good luck,
Robin


Wed Nov 03, 2010 12:55 pm
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Joined: Mon May 07, 2007 7:57 pm
Posts: 24
Location: Capital Region, NY
Post Re: Genetic testing, expecting first child
Thanks very much, Robin. Great info.

I feel very strongly about planning for an autopsy on my mom's brain, but my dad is having great difficulty with the concept. He also talked her into checking the "I do not wish to donate organs/tissues" on her health care directive form (which she arguably lacked the competency to fill out). Arg.

It's something I'm working to change, but change comes slowly with my dad. I always seem to have a project to work on!

_________________
My beloved Mom, Christina, passed away on April 19, 2011. She was my best friend, 64 years young and had LBD. Her beautiful spirit lives on in her first grandchild, our daughter, who was born just two months later.


Wed Nov 03, 2010 1:09 pm
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Joined: Wed Dec 30, 2009 1:46 pm
Posts: 3213
Location: WA
Post Re: Genetic testing, expecting first child
In what way would genetic testing change things, at this stage? Also, if your mother had signed an advanced directive stating that she did not want her body donated, I believe it should be honored. This is just my personal opinion but that's what you were asking for, wasn't it? Answers don't come easy about any of these issues, I know. Congratulations on your upcoming motherhood!

_________________
Pat [68] married to Derek [84] for 38 years; husband dx PDD/LBD 2005, probably began 2002 or earlier; late stage and in a SNF as of January 2011. Hospitalized 11/2/2013 and discharged to home Hospice. Passed away at home on 11/9/2013.


Wed Nov 03, 2010 1:25 pm
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Joined: Fri Aug 11, 2006 1:46 pm
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Location: SF Bay Area (Northern CA)
Post Re: Genetic testing, expecting first child
freeflowing,

When an elder law attorney attended a local support group meeting, someone asked about the "I do not wish to donate organs/tissues" line on most advance directive forms with regard to what the healthcare proxy could do with regard to brain donation. He explained that the common understanding of this is that the person didn't want to donate organs/tissues for transplant or use by another living person. His opinion was that it didn't obviate brain autopsy, which is the analysis of tissue to determine what pathologies are present. He thought that the brain being utilized for future research fell into a grey area as this could be viewed as a donation but, of course, the brain isn't transplanted. (Oddly, I get a question along these lines at least once a month -- how long does the brain transplant take? when did we figure out how to transplant brains?)

The cost of a brain autopsy (analysis) is about $3K. And you have to be very selective in who performs this because it should be done by a neuropathologist, not just a pathologist. (I don't know of any neuropathologists who hire out.) If the brain is donated for medical research, nothing is charged for the autopsy (analysis).

Robin


Wed Nov 03, 2010 1:44 pm
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Joined: Mon May 07, 2007 7:57 pm
Posts: 24
Location: Capital Region, NY
Post Re: Genetic testing, expecting first child
Robin, your comments about the "brain transplant" process made me laugh out loud!! :lol:

Thanks for the info about the attorney's interpretation. I suspected there's a big difference between donating material that will be transplanted vs. allowing the family to obtain the only definitive diagnosis we're able to get. The latter is very important to me and to my mom's siblings.

_________________
My beloved Mom, Christina, passed away on April 19, 2011. She was my best friend, 64 years young and had LBD. Her beautiful spirit lives on in her first grandchild, our daughter, who was born just two months later.


Wed Nov 03, 2010 2:44 pm
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Joined: Sat Jan 03, 2009 2:59 pm
Posts: 1978
Post Re: Genetic testing, expecting first child
Congrats to you and your husband on the up coming birth of your first child, but how sad that you have to think about the what if's but I understand your concern. Brain donation is not only a gift for study but also gives a family peace of mind with knowing what your loved one had and how it could effect future generations.

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Irene Selak


Wed Nov 03, 2010 4:39 pm
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Joined: Sat Oct 06, 2007 4:28 pm
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Location: LA
Post Re: Genetic testing, expecting first child
You have been given such great helpful conversation with response to this wonderful news about your new baby I hesitated to chime in however I think I will add something that happened when my family was worrying about whether to donate brain tissue post mortem for our beloved family member. One of my daughters who is extremely thoughtful and loving for her father could not discuss it and when I wanted her permission, she teared up and told me that her head was agreeable but her heart was not. Perhaps that is the way your father feels when you say,
Quote:
but my dad is having great difficulty with the concept.

We are all still grieving over the loss of the father of our family but everyone, including the daughter who found it difficult to talk about it before, all are grateful for the knowledge we received after his death as to the cause of change in his life. Incidently I was 33 years old when my last child was born.

Congratulations and best of luck.

Dorthea

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"See this lady, she's 85, but she's nice"


Wed Nov 03, 2010 5:00 pm
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Joined: Tue Dec 29, 2009 2:28 pm
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Location: Minnesota
Post Re: Genetic testing, expecting first child
freeflowing,

Congratulations and wishes for a safe pregnancy and delivery!

My niece is also expecting, in March, and just beginning to show to the point at which it is obvious. Her grandma (my mom) forgets often that she is going to be a great-grandma (twice over this winter as a nephew is also expecting his first child). But when Mom sees Beth, it is like she gets the news of a great-grandchild all over again. She points with delight to Beth's belly (Mom has few words now) and she and Beth share a special moment - over and over again.

Take pleasure in that and the knowledge that each time your Mom discovers her impending grand-motherhood, it will be like the first time. What a joy to share that moment over and over again!

As to genetic testing, I also have an extensive family history of dementia. Thankfully, it waits until late in life in my family. But, if I had the opportunity to have a DNA test that could tell me with some certainty what is going to happen to me, I'd take it. For the sake of my family if not for myself. My suspicion that I am headed for dementia eventually has caused me to take out long term care insurance. I also have all of my end of life documents in order. I am single, so I don't want nieces and nephews to have to care for me when they also have their own parents to contend with. So, yes, I want to know.

As far as brain donation, I firmly believe that what a person has put in their medical directive should be honored. And donation is donation, whether to provide spare parts to keep another functioning or for research. While I would like to encourage the provision of resources (including brains and whatever) to research, I think it is impossible to know what someone was thinking when they determined what to put in their medical directive - unless that person made you privy to their thoughts.

I am in a situation that is causing me some concern in this regard. My mother's medical directive says no donation. But my sister, who is my mother's medical representative, has already told Mom's doctor that Mom's brain can be donated for research. She says she has looked at the directive once and doesn't need to again. I was with Mom when the directive was drawn up and was privy to her thoughts. Her reason was that she was very uncomfortable with the idea of a part of her body still being around (picturing a brain in a jar type of thing) after the rest of her was cremated. What would become of that brain? Would it eventually be cremated and laid to rest with the rest of her ashes? Or would it sit on a lab shelf for years, eventually discarded as bio-hazardous material with no recognition that it was part of her and no respect for its disposal? When Mom's body is cremated, she wants her whole body cremated - thus specifying no donation - and no donation meaning no donation.

Incidently, I am a donor, though Mom's reasoning is giving me second thoughts. I'd much rather someone study my grandparents medical records, my Mom's current care and the development of what I suspect is coming for me while Mom and I are both alive.

Best wishes for your family!

Kate

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Kate [i](Cared for Mom for years before anyone else noticed the symptoms, but the last year of her life was rough and we needed to place her in an SNF, where she passed in February 2012)[/i]


Fri Nov 05, 2010 6:07 am
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Joined: Wed Dec 30, 2009 1:46 pm
Posts: 3213
Location: WA
Post Re: Genetic testing, expecting first child
Kate, it's a difficult issue but I agree with you that a person's directives should be honored and that 'donation' includes donations of any kind. If your sister has medical POA, I guess her decision will supersede yours. Having studied cadavers, I can understand why some would feel uncomfortable about their body or that of their LO being used for research. Don't get me wrong, I fully support the unselfish and necessary act of organ and body donation. But I can also see the other side of the question.

_________________
Pat [68] married to Derek [84] for 38 years; husband dx PDD/LBD 2005, probably began 2002 or earlier; late stage and in a SNF as of January 2011. Hospitalized 11/2/2013 and discharged to home Hospice. Passed away at home on 11/9/2013.


Fri Nov 05, 2010 9:42 am
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Joined: Fri Aug 11, 2006 1:46 pm
Posts: 4811
Location: SF Bay Area (Northern CA)
Post Re: Genetic testing, expecting first child
There are lots of places that will destroy brain tissue after autopsy. These university medical centers call this a "brain autopsy." They don't use the word "donation" or "brain bank" because the tissue is destroyed and cannot be utilized for future medical research.


Fri Nov 05, 2010 9:43 am
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Joined: Fri Jan 15, 2010 9:33 pm
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Location: Vermont
Post Re: Genetic testing, expecting first child
Freeflowing - Congratulations! This is an exciting time for you! I was in my 30's when both of my kids were born and had an amnio for the 2nd one. You really have to give a lot of thought to "what would happen if" scenarios before even having the amnio.
Re: organ donations - I agree with many others here, in that "organ donation is organ donation" no matter what the purpose, use, who is receiving the organs, etc. My dad did NOT want to be a donor, and my mom DID want to be a donor. My husband and I are similarly situated - it is a very personal choice and one that should be honored, in my opinion, unless there are really compelling reasons for doing so.
Good day everyone, Lynn

_________________
Lynn, daughter of 89 year old dad dx with possiblity of LBD, CBD, PSP, FTD, ALS, Vascular Dementia, AD, etc., died Nov. 30, 2010 after living in ALF for 18 months.


Sat Nov 06, 2010 12:24 pm
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