[Nitwit]

Okay, when I went in for my first appointment on the 13th the dr asked me about EVERYONE in my little family. I have a cousin who was born with a heart malformation. So now I have to go see a genetics dr and its freaking me out!!!! The OB I saw didn't even order an i/u/s he just did my blood work and his normal stuff... My Genetics appt is the day before my next appointment in which I'll be 12 weeks so I'm hoping he's going to check the heartbeat and possibly do an u/s it would make me feel better.... other than that Im doing great. I'm actually not sick anymore SERIOUSLY! I crave alot of foods I hate and I have the smallest pooch in my tummy... Nothing much else....

[MommyDee]

I know how you feel... we've got a gastric cancer gene in my family, and it's dominant: 50-50 chances of your kids having it if you're a carrier, and chances of carriers developing the cancer are 60% or more for men, 85% or more for women. The whole family is in the process of testing and genetic counselling. DH's family has a gene that can cause various levels of developmental delays in the children of females. Basically, if we have a daughter this time around, chances are high that her children could be developmentally delayed. It's an extremely frightening prospect, but at least we're armed with the knowledge, which makes us better prepared to deal with the possibilities.

Is it only one of your cousins that was born with the heart problem? If so, it's probably just a random occurrence; I'll keep my fingers crossed that everything turns out fine at the genetic level! And I'm so glad to hear you're feeling better!!!

[QueenAngie]

Thank you for sharing!

Every mother worries about every baby she is carrying. This is normal. I am glad you are going for the testing. It will ease your mind that everything is normal.....or ....it will give you an action plan of which specialist should be present when baby is born.

Which ever direction it goes, we are here for you.

Hoping for the best.

Sending you prayers for a healthy baby and a healthy mommy too!

[twinzplus3]

I've had very bad experiences with genetic testing. I have refused it for my last three pregnancies. It is good to be armed with knowledge if you feel you need that. . .and so I would still recommend it. However, I have found them to be very pushy towards aborting babies and/or unnecessary, invasive procedures. I'm certainly not trying to scare you. . .but I wish someone had forewarned me before I went that first time. I wasn't prepared for the scare tactics and it made me cry. Which made them perceive me as a basket case and made the situation more complicated. However, the second time, since I knew. . .all was fine. I calmly stated we wouldn't be terminating the pregnancy even if they told me it would have one eyeball.

All of my kids came out fine btw.

In any case,

[MommyDee]

Twinz, I think I'd kill someone if they did that to me! Genetic counselling is supposed to be supportive and informative, not pushy and invasive.

I have no trouble getting tested myself to see if I carry a gene, but I wouldn't let them test my unborn child unless the circumstances were dire. The thing is, you don't know exactly what's going to happen until the baby actually gets here. Genetic testing shows possibilities, and can't predict the specifics or the severity of a problem; plus, sonography is not an exact science, as we all know. Ultrasounds have often scared the bejeebers out of people when it turns out there's nothing to worry about, not to mention the difference in estimated and actual fetal size, mistakes on baby's gender, etc.

I think things such as amniocentesis should be reserved for high-risk situations where an ultrasound combined with numerous other factors indicate a high likelihood of a life-threatening problem. Whitney, don't let them talk you into fetal testing unless they give you good, solid evidence that it's absolutely necessary.

[LeanyBean]

I am not sure I would ever go through genetic testing. I have a fair idea of what my hubby and I are passing on. Heart issues and cancer risks from me and psoriais and diabetes risk from him. I may sound heartless to some and a bit of saint to others but I really don't care what I pass along to my children via DNA. What I do want to pass along to them is LOVE. I couldn't care less if my children have any "abnormalties". I would love them anyway.
I'm not saying genetic testing is wrong because I'm not. I'm just saying that it isn't for me. I fully understand it's purpose and that people need peace of mind.

Nitwit, Don't stress about it. Everything will be ok. You should walk away from the appointment well-informed. Good Luck.

[MommyDee]

With our particular genetic problem, it's not just peace of mind. Several women in my family have had gastrectomies as a preventative measure (which is highly recommended for any female that tests positive), and cancer cells were found in every one after the stomach had been removed. The diffuse gastric cancer this gene causes is very difficult to detect in early stages, and once it's advanced, there's usually little or nothing they can do. One of my cousins was told that if she hadn't had the gastrectomy (which she did as a result of the genetic testing), she would have been dead within two years. Another of my cousins only has a couple of weeks left to live; she didn't have the testing and was diagnosed in February with advanced gastric cancer.

I don't believe that physical or developmental problems are any reason to terminate a pregnancy or to look at a child differently. I do believe that knowing that you will likely develop cancer, heart problems, or diabetes is a good reason to have yourself tested, and gives your children the knowledge and the option to have themselves tested when they're older. Everybody tries to eat healthier, exercise, take care of themselves; if you have something more specific you can do to prevent a likely illness, it's better to know about it.

[LeanyBean]

My goodness, Dee. That's a hard-hitting cancer. You make a very good point though. Thank you for sharing.

[twinzplus3]

Oh Mommy Dee I agree. . .but you're also talking about testing adults and/or children. . .people who are born. . .for the purpose of changing a possible course of illness. And I'm definitely NOT saying don't have it done.

With genetic testing. . .it's all a matter of possibilities and you can be sure that if something is possibly or even likely wrong. . .the suggestion of terminating the pregnancy will come up. That doesn't mean that they'll be pushy like my people were. It may just be presented as one of many options. (I just must've walked in on a bad day.) Nor does it mean you shouldn't go. I just wanted to share because I was so shocked by the whole process that I remember feeling like I wish someone would've warned me.

[MommyDee]

I hear you Twinz... I think it's horrible that you had to deal with that. Knowing that there's a possibility of a problem doesn't give anyone the right to tell you "should" terminate your pregnancy; to my mind, that's only an option if there is absolute 100% certainty that the child could not and would not survive. It's so unfair to put someone through that. Genetic counselling should only help you and your doctors be prepared if there's a possibility of your child needing extra medical assistance.

Arlene -- yeah, it is a hard-hitting cancer. Our particular genetic mutation can cause lobular breast cancer as well as diffuse gastric cancer, although the gastric cancer is by far the more prevalent one. I haven't had my testing done yet, but my brother's came back negative thank God. It's in my dad's family and we don't know if he was a carrier or not; he died twenty years ago of (can you say double whammy lol) Non-Hodgkins Lymphoma, which would appear to be an unrelated form of cancer.

The thing is, if I do test positive, I can undergo frequent, more specific testing such as ultrasound and MRI to screen for the cancers; I would also have the option of preventive surgery. My children would also know to be tested when they get older (it's an adult-onset type of thing, they don't recommend testing until at least age 16-18.) If I test negative, we don't have to worry, period.

Sorry Whit, I didn't mean to hijack your thread... To put it in perspective relative to your situation: if you tested positive as a carrier for some form of heart defect, they could do more frequent scans to ensure your baby's heart is developing properly. Worst-case scenario, if there were some type of problem, they'd be prepared with a cardiologist or whatever they need at baby's birth. To be honest, I think the doctor may be jumping the gun a bit with the genetic counselling if your cousin is the only one in the family to have this malformation. Regardless, try not to worry about it; take it for what it is -- just a little extra info to help you keep your family healthy. You do what you can, but you don't let it rule your life.