Genetic Testing?

[ammayernyc]

After all my hustle and bustle of worrying about when I''m going to get a ring, what kind of ring it will be, when my wedding will be and so on and so forth that everyone here discusses, I''ve sort of let on major thing in my relationship pass by without thought...

My bf has a genetic disease that was passed down through his parents who were unknowing carriers. If I am a carrier, then there is a 50% chance that our child(ren) would have the disease. My bf has the mildest case, but it is still something that affects him every day. There is no guarantee that our child(ren) would have the mildest case.

I have avoided being tested so far. I know that I should, but I''m terrified. If I''m a carrier then the options range between not being with him to adopting to not having children to having ''engineered children'' and more. If I''m not a carrier, then there is a 100% chance that our child(ren) would be carrier, but not afflicted by the disease.

Has anyone been in a remotely similar situation? Any words of advice?

Sorry for the serious topic... but occationally I do think of things other than diamonds.

 

[appletini]

Well my BF & I don''t have any genetic diseases that we know of, but we do plan to have genetic testing done before we have kids, just as a precaution.

 

[JCJD]

I am not in your situation but I hope I can help...

Have you talked with your boyfriend about the possibilities you''re worrying about? How does he feel about having children with you knowing that they might be carriers and/or affected by the disease? If the disease is very rare, the chances that you are a carrier are small, and the chances that your children together will end up marrying another carrier are small as well. So, the frequency of the gene in the population might make a difference to the two of you. How do you two feel about adopting? What if you do have an affected child - how will the two of you deal with it together? Etc. These are questions you need to deal with before marriage, and before engagement preferably. I don''t know if you have talked with him about this of course, but that''s my advice.

 

[NoonersMom]

I am sorry that you are going through this. Without knowing the details of the entire situation, I would get tested ASAP & then determine a plan going forward. I know it is scary, but you can determine things one way or the other & deal with it. If you''re not a carrier, then no worries & your mind is put to rest.

I may also get roasted for saying this, but sometimes I think things happen for a specific reason & I think we find ourselves in situations to either learn from them, grow, find strength or to teach others, regardless of the hardships we may feel. We just need to recognize that it''s part of life, deal with what is in our control & keep the faith that things will work out as intended, whatever that is.

What can you do that will help you bring peace & comfort to the situation? It is that that I would focus on.

 

[ammayernyc]

My bf is a complete non-talker so the only thing I know about his ideas on children is that he wants girls. Go figure. Although, I did have a conversation with his mom about it. She''s adamant about me getting tested and making sure that we don''t have children with the disease by any means necessary.

Even if I''m not a carrier, there is a 100% chance that our children will be. However, there are no effects whatsoever of being a carrier. You''re just a ''normal'' person.

As for things happening for a reason... I have a complete opposite approach, although the results are similar. I believe that nothing happens for a reason. Things just happen. However, you can''t change them so there is no reason to sit around questioning why things happened this or that way. I also believe in Karma... but only partway. I belive that if you are a nasty person, it will get back to you. However, if you are a nice person, it doesn''t mean that things will always work out. Having lost both parents by the time I was 26 proves that to me. I was barely a person let alone someone who did something to deserve that...

I have to go see my ob/gyn in the next couple of months so I think I''m psyching myself up to ask her to do the testing, or at least recommend someone who can do it.

Thanks for all of your responses so far!

 

[snow_happy]

Hi ammayer--

I think NoonersMom has given you some great advice. The testing needs to be done regardless of whether you do it now or later, correct? So you might as well do it now to KNOW the outcome. Good or bad. The sooner you know, the sooner you can plan for it and be mentally settled. If you are nervous (understandably so) maybe a good friend, your bf or a family member can go with you to get tested.

The testing is inevitable so bite the bullet! You can do it and we will be here to support you no matter what.

Good luck

 

[NoonersMom]

Hi Amma,

Glad to hear that you are psyching yourself up for your next visit. At the very least it will start you on the path to a resolution & peace of mind.

I am sorry to hear about the loss of your parents! No one deserves to have them taken away at a young age. I can''t begin to imagine or know the feeling or what you are going through. It appears that my previous post wasn''t communicated properly.....I agree, life happens & you make decisions based on what you feel is best. As part of the process, you learn & grow from those decisions & the outcome of those decisions. That was my point, I guess. Sorry if it didn''t fully come across.

Best of luck! As Snow said, we''re here for you!

 

[ammayernyc]

Nooners -- I hope I didn''t come across as critical. I really wasn''t trying too... the one thing I have learned for sure is that no one has the same approach to life!

 

[blue_chica]

Ammayer - I''m sorry you''re facing this. You had a lot on your plate already, can''t a girl get a break? I would say get tested as soon as possible. "Ignorance is bliss" is such a bad saying - it''s not bliss, you''re worrying about it and wasting mental energy on it. Even if you are a carrier, that''s bad news, but you will have time to reconcile yourself to adopting or not having kids, or the other options, right? And if you''re not, then away goes the worry, all options are open, etc.

When I was 21 I donated eggs to some infertile friends of mine. As part of the procedure they pump you full of drugs to make you hyperfertile. My ovaries apparently didn''t respond with the gusto they were expecting from someone my age, so they told me I had premature ovarian failure. I worried about it for 5 years before I screwed up the courage to talk to my dr, and she told me that was a ridiculous diagnosis to give without a lot more of an exam, it was 95% most likely to be undertreated hypothyroidism. She tested me, I''m as fertile as mesopotamia, my ovaries are raring to go. Hehe, funny mental pic. Anyway, all that time wasted stressing.

I wish I hadn''t waited, and I wouldn''t recommend waiting to others.

 

[NoonersMom]

Amma, no worries! You didn''t come across that way at all. I just wanted to make sure I didn''t come across as preachy! LOL. BTW, I couldn''t agree with you more....everyone''s approach is different! Different strokes for different folks!

Another thought that I had....have you considered doing some research on the disease your bf has? It might be good to get the facts and options for yourself and help put you more at ease? Who knows, maybe there is a wonderful online community similar to Pricescope.

 

[ammayernyc]

I''ve done as much research on his disease as humanly possible aside from talking to his doctors. I think I know more about it than my bf does -- no joke.

There are some support groups, but I don''t find them useful and besides, this is something he lives with and is not fatal. So for me to complain or vent about it seems useless.

The disease does affect the stregnth of his bones so our lives are limited in the sense that he would never go skiing or bike riding or anything where there is a chance that he could fall. (However, he managed to break his leg while just walking. Nurse Amanda to the rescue!) Also, we can''t travel at legnth as he has to be given medicine every three weeks. And he needs good insurance since the drug he takes costs over $300,000 a year.

I joke with him that I haven''t had a bad cold since we''ve met since he wouldn''t know how to take care of me! (He didn''t realize that condensed soup needs to have water added to it...)

 

[snow_happy]

Blue Chica --
Your post cracked me up! Not the infertile stuff but the Mesopotamia stuff... anyways you know what I mean

I agree with NoonersMom in the philsophy that things happen for a reason... even if you are upset about it at first. Even if you DON''T think that way, both good and bad things happen in everyone''s lives. It''s your own way of processing it and a conscious decision to find something positive about a bad situation or dwell in the negatives.

I''m not saying you are being negative or it''s irrational of you to be worried (I''d be freaking out for sure!) but I do strongly believe that knowledge is power and dealing with the situation will only make you stronger (enough cheesy cliches? i hope so

)

 

[NoonersMom]

Wow Amanda, that''s a lot to wrestle with. I can now appreciate why you both can''t have the disease. On a lighter note, that''s pretty funny that he didn''t know about condensed soup! Poor guy! Good thing he has you! LOL.

Blue Chica.....I think we will start calling you Mesopotamia. haha

 

[icekid]

Date: 3/8/2005 12

7:39 PM
Author: appletini
Well my BF & I don''t have any genetic diseases that we know of, but we do plan to have genetic testing done before we have kids, just as a precaution.

appletini- what kind of testing are you planning to do?? i was under the impression (from our genetics counseling profs) that this is not widely done, and that you would only test for something specific if your ethnicity is at high risk (like Tay-Sachs if you are jewish). also, it''s REALLY expensive... i think to test for BRCA genes (implicated in breast cancer) it costs a solid few grand- and that''s only to test for a few genes.

ammayernyc- it''s pretty unlikely that you are a carrier. however, knowledge is power

hehe, no seriously... once you know, you and your bf can decide what steps to take. one of my best friends from college whom i dated very briefly also has a genetic disease which is relatively benign, but i definitely would have gotten my DNA checked out had it ever gone that far. both of his parents are carriers, but his dad IS actually affected also. he has two copies of the worst allele (form of the gene) but he''s doing ok so far, luckily. i know it''s scary- but truly nothing bad will come of getting the test done. knowing can only help you plan for the future

 

[ammayernyc]

After doing all my research, it''s a lot less rare than I orginally thought. It is actually related to Tay-Sachs as it is also a Jewish disease.

I''m hoping that my insurance will cover the costs of the tests, but if not, I''ll have to do it out of pocket. Sucks, but needs to be done.

 

[AmberGretchen]

Hey Amma - I just wanted to say that I think its very brave of you to get tested and definitely the best thing to do. As others have said in this post, its probably unlikely that you are a carrier, but I think that in your situation and for everyone, these are important decisions to have before having children with someone (preferably before getting married as well). Everyone has different thresholds for dealing with illness and disability and different views on how much they could handle or would want to handle, and its important to make sure that you and your bf (hopefully soon fiance) are on the same page - there are a range of available options and its important to make sure that you are both on the same page about how you would deal with various eventualities. My bf is not a huge talker either, but about really important stuff he is pretty good - I think if you try to bring it up at a relatively relaxed moment and phrase it as "I really want to know your thoughts on this" and have some scenarios in mind that will help make sure you are both in the same place. Not fun, but much better to know now than when you are faced with a difficult situation in the future.

Good luck and let us know how the test goes!

 

[MissAva]

I think it is great that you are getting tested. Just rember that even if you are a carrier there are always other options, donor eggs,, donor sperm and other IVF programs. If you want children there is always a way. Good Luck you will be in my prayers.

 

[lizzyd]

Hi Amma -

I was just passing by, never read this thread before (old married lady here), but I saw your post and thought I''d tell you what happened to dh and me.

We had been married for about a year (this was in 199 when I got pregnant. Because I was over 35 at the time, I got an amnio done in week 16 of the pregnancy. The results take two weeks to come back. Two days before the results were due we got a phone call from dh''s sister. She was pregnant!! And, she came up positive for being a Gaucher''s Disease carrier on some pre-conception testing (also a Jewish inherited disease), and dh better get himself checked.

DH and I called our genetics lab the next day and explained the situation. They had us come down that afternoon to give blood. Turns out DH is also a carrier, I am not. Because I''m not Jewish I had a 1 in 300 chance of being a carrier. Not too likely, but still, your mind goes nuts like "well somebody has to be that 1."

Anyway, it was not nice having my heart in my throat for another 10 days till we got the results.

My advice, get the testing done pronto. You don''t want to find yourself pregnant (accidents do happen) and then living out a worst case scenario.

Tell your O.B. you are trying to conceive (even if you aren''t yet). That may make the testing coverable if you have a decent health plan.

Good luck,

LizzyD

P.S. The baby (now 6 1/2) was perfectly healthy. We don''t know if he''s a carrier yet. We''ll have him tested in a few years.

 

[fountainfairfax]

Amanda-

I have been thinking about this all day, wanting to say the right thing and offer sage advice..but first I''d like to say that I''m sorry to hear that such a difficult situation has entered your life, especially after all you have been through with the loss of your parents. I struggle often with the whole concept of karma and I too believe that all the bad that people do to one another does come back to them in many ways but I search to understand why bad things happen to those of us who live for peace and goodness...the whole "when bad things happen to good people" is one of life''s mysteries..being spiritual but not religious, it does turn into a big puzzle for me...

If I had to offer you any advice at all it would be that you already know he''s "The One" so the testing will only help to define the decisions you make towards parenthood and people make enormous decisions regarding the lives of children everyday, unfortunately often without even a fraction of the thought you''ve already given it. So by considering testing you are so far ahead of the game as a great future Mom

I bet your Momma would be very proud of you! As you already know, so much of our lives is out of our control and here you have an opportunity to gain insight as to your options. It is one of those times when science can possibly do a lot to improve the quality of life of your future children- please try to see it as something gained, not lost, by the outcome of the testing. It is so easy for me to say and without being in your shoes I do not want to sound presumptious so I''ll get off the soapbox now but will add that I''m sure you have a thousand friends but if you need someone to be there for the testing I''m just a short ride on the LIRR- Babylon to Manhattan- no problem!!!