Thoughts on my situation - UPDATE

DH and I are not TTC yet. We were most likely going to start early 2008.

My mother was recently diagnosed with a genetic disease called Myotonic Dystrophy. It's basically an adult onset Muscular Dystrophy. It is a neuromuscular disease. Children have a 50/50 chance of carrying the disease as well. It is also called an "anticipated" disease. Which means, every generation that carries it, gets progressively worse.

I have not been tested. I do NOT have any symptoms of the disease whatsoever. I have seen a neurologist and asked his opinion/thoughts. He came right out and said, "If you want to have the genetic test you can. But what will you do with the answers? If you find out you do carry it, will you not have children. The chances are the same for every generation to actually have the disease and the chances of your child have the congenital version (the absolute worst case scenario) are slim"

This struck a serious chord with me. A million things went through my head. Would I not have a child if I thought it had a chance of having any disease? Of course I wouldn't. If that wouldn't stop me, then why should this?

Part of me feels terribly irresponsible for not wanting to have the test. But the other part just wants to let fate decide. Whatever will be will be.

I know most of you are not in the same situation, but all of you wish to have children.

If you have any advice or thoughts, I would greatly appreciate it.

No worries on hurting my feelings, etc. I put this out there to hear all sides.

TIA.


UPDATE:

A few months ago, after a temendous amount of thought, I decided to get tested.

I am overwhelmed with the support and advice I received on my original thread.

I am THRILLED to report, my test came back negative and I am NOT a carrier.

Thanks again. Your well wishes went a long way.

Message edited 7/26/2007 10:32:54 AM.

Re: Thoughts on my situation - LONG

If it were me, I would test and the talk to DH about it. Well he woudl also need to be tested then too.
One of my biggest fears is that we might be carriers of a genetic disease such as Cystic Fibrosis.

As for knowing....my gut tells me I would still have children. It might seem selfish but like the doctor said chances are slim

Re: Thoughts on my situation - LONG

If you dont take the test, will you always wonder? I dont really know what i would do, but i will tell you this. there are a million things that can go wrong in life be it this disease or anything else. so I would NEVER think you are selfish for having children that may or may not have the disease. If you knew that it was certain they would, that would be a different story. But there are a million things that can go wrong and this is just one of them. Sometimes you just have to hope for the best and just deal with things as they come.

Re: Thoughts on my situation - LONG

Marlo, it will not hurt you in any shape or form in getting the tests done. What you decide to do with the results, thats something you'll need to discuss after you're tested and receive the results. I think its much better to know ahead of time, bc once you get pregnant you become such a worry wart. Wouldn't it give you a peace of mind to worry about other things as opposed to dealing with this issue at hand without having been tested first? In any event, it is your and your DH's decision but IMO it is always better to be safer than sorry in the future! Good luck!

Re: Thoughts on my situation - LONG

I think you might feel better if you did get tested, but at the same time if you are still going to have kids anyway you may not want to know. It's a tough situation. We are all at risk to be carrying one form of disease/disorder or another- most of us have no idea. Sometimes the problem with technology is that there is too much of it. Good luck with your decision and your mom is in my prayers

Re: Thoughts on my situation - LONG

If testing isn't going to change whether or not you have children then I wouldn't have the testing, whatever will be will be, but you have to at peace with that decision. Good luck!

I have worked with a few children born with congenital myotonic dystrophy (at infancy and at school age) as well as other disorders and I think that my experiences would shape my decisions and my views of my options.

Message edited 2/26/2007 4:04:50 PM.

Re: Thoughts on my situation - LONG

My thought is given the nature of the potential disease it wouldn't affect my decision to TTC. However, if it was something that would be fatal (like CF as someone else mentioned), I would in fact test, and would in all likelihood make the decision not to have kids, but to adopt instead. I saw what he11 my sister went through when my niece died at age 12, and I don't have the strength to do the same.

Re: Thoughts on my situation - LONG

Marlo, I applaud you for being so brave and sharing your story with us. I would never try to put myself in your shoes and say what I think I'd do. I really don't know.

What I will say is this, the information you know, is a bit more clear than the information you don't. Forgive me if that is at all cryptic, but you are an intelligent woman. Having the tests will allow you to make the best decision for you and your family.

Re: Thoughts on my situation - LONG

I just want to give you many

Re: Thoughts on my situation - LONG

JUST AN FYI- my dh and i got genetic testing done and when we met with the counselor she told us that if we were both carriers for any mutation we could elect to get IVF and they would only implant the eggs that DID NOT carry the mutations. we had no idea that this was possible and were amazed at how advanced medicine has become.

Re: Thoughts on my situation - LONG

honestly i would NOT do the test.
Is there a cure for this? it didn't sound like there was.

If not, honetly I would not want to know that I have this disease. I would live life as I can without it.

However, for me, I know if I took a test and found out I have it, I just don't know how'd I deal with knowing.



Either way, I know its a hard decision, and just wanted to wish you the best!

Re: Thoughts on my situation - LONG

Re: Thoughts on my situation - LONG

Marlo, I could never put myself in your shoes but I have to agree that I think your best bet would be to get the tests done & see what the results are. It is better to know now before trying to TTC especially if the results will truly have no bearing on your decision. You want to know what you are up against rather then finding this out when you are 7 months pregnant & an emotional mess.

Re: Thoughts on my situation - LONG

I have an aunt on my dads side of the family who was born mentally retarded.

DH and I have gone back and forth a million and 1 times with regards to having genetic testing. My aunt was born mentally retarded and unfortunately no one in my family knows exactly what her diagnosis was, and she has since passed.

Finally after an ample amount of discussing we came to the point of not doing the testing. Ultimately, we feel that we get what we get and don't get upset (of course easier said then done)...no point in tempting to play fate.

Unfortunately, I am afraid that if we received genetic testing results stating we were carriers of whatever I'd probably refrain from having children because of fear alone.

Re: Thoughts on my situation - LONG

Thank you all for your thoughts, kind wishes and prayers. I truly do appreciate it all.
You've all given me a lot to consider and think about. I'll let you know what happens.

Re: Thoughts on my situation - LONG

Posted by Mrs

honestly i would NOT do the test.
Is there a cure for this? it didn't sound like there was.

If not, honetly I would not want to know that I have this disease. I would live life as I can without it.

However, for me, I know if I took a test and found out I have it, I just don't know how'd I deal with knowing.



Either way, I know its a hard decision, and just wanted to wish you the best!

Re: Thoughts on my situation - LONG

If you're unsure whether or not to take the test, maybe some counseling will help you and your DH make your 'decision' beforehand so that you can handle whatever the results are.

Unfortunately, I am very familiar with myotonic dystrophy. DH's closest cousin's wife has it, as do their two boys, as well as her brother and his two boys. The familial link is a paternal uncle. They do have a third sibling who is fine, as are his children.

I'm not going to lie - if your children have it, from what I have experienced with them it is an very difficult life. Currently both of DH's cousin's boys are in public school but special classes. They are 10 and 12. They also both go to Hebrew school but whether or not either or both could handle a bar mitzvah (which is now a topic of conversation for the 12 year old) remains to be seen. They will possibly be able to live together later but will more likely than not go without being married, have kids, etc.

I do not tell you this to depress you or upset you but I do think it's very important to have all of the facts when a decision as tremendous as this is at stake.

Best of luck.

Re: Thoughts on my situation - LONG

About 2 years before I married DH, I went for genetic testing for a certain condition. My doctor asked me the same exact questions as yours asked you. What it came down to for me was I felt I would be better prepared for the future if I knew whether or not I carried this particular gene. I felt I would be able to make better decisions regarding my health and about things in general when it came down to TTC. I would really take your time and go through all of the possible scenarios before making your decision. I would also advise not discussing your options with too many people as it has to ultimately be your decision. Hope that helps. FM if you need to talk.

Re: Thoughts on my situation - LONG

Just a small update. I've decided to go ahead with the testing. I have an appt. with a neurologist in April.

I want to thank you all again.

Re: Thoughts on my situation - LONG

Maybe you could talk to a genetic counselor about the testing and what your options are? I am sorry you even have to think about something like this..

Re: Thoughts on my situation - UPDATE

Bump for update

Re: Thoughts on my situation - UPDATE

Great news!!!!

Re: Thoughts on my situation - UPDATE

Great news!!

Re: Thoughts on my situation - UPDATE

That is wonderful news! What a relief that must be!!!!

Re: Thoughts on my situation - UPDATE

Wonderful news! Best of luck to you!