PolkMoms.com

This is the link for USF in Tampa Genetic counseling division. I have personal advice on this. This is a great way of understanding potential issues that could arise in your offspring. I knew hubby was strongly of Irish decent. I myself knew I was Scottish/English and Swedish decent. When we had Ryan, I realized I needed to retrace my family tree. It was then I realized my mother's grandfather's family is Irish. Ryan was born with Galactosemia which usually pops up in Irish people. We did a genetic counseling session to discuss having another baby, which would be Lilly, to see what the chance would be to have another baby with galactosemia. Hubby and I were both identified as carriers of the galactosemia gene. In the end, through genetic counseling, we knew statistically Lillian had a high chance of either having the galactosemia gene or to be a carrier like Eddy and I. After birth we found out she is indeed a carrier. It is amazing what you can learn from such studies of your own gene pools.

Has anyone else had experiences or interest in this subject?

http://usfpeds.hsc.usf.edu/divisions/genetics/about/index.htm

After reading this again, I thought this might sound irresponsible for hubby and me to have another baby knowing the probable outcome. I wanted to explain that Lillian was not planned. We, through this counseling, thought it might not be a great idea to have another baby. Considering the trouble I had getting pregnant with Ryan, I didn’t think I would be able to get pregnant easy. We had one "whoops" moment and that is all it took to get her here. She really was a surprise, though a blessed one. I am glad she doesn’t have full blown galactosemia or the Duarte version, but I do feel bad that she is a symptomatic carrier. I just can’t regret her though, I love her to pieces.

We had some doctors mentioning abortion to us when we found out she was a girl. (This was pre- Dr. Hopper) This disease is more difficult on little girls. We were given the option of doing an amniocentesis to test her for it and abort her if she was positive. I didn’t even have the amnio done, it wouldn’t have mattered if she had it. I thought then, and still do, that she was meant to be.

What do you moms think? If you know your child could have serious genetic outcomes; Do you think you should still try to conceive?

Hi Shawn,

When I was pregnant with my first son I was told that he may have a chromosomal defect, and they (genetic counselors at OHSU in Oregon) were hinting strongly at Down's Syndrome. They came to this conclusion from a blood test that came back abnormally. Called something like the Maternal Alpha-fetoprotein test, it detected the amount of protein that the baby was putting into the mother's (my) blood stream. Too much may indicate twins and too little may indicate a chromosomal defect.

Long story short, they wanted to do an amnio on me that very day and explaining the process, they mentioned how they "hoped" the hole would close up after removing the needle. Well, "hope" wasn't good enough and frankly, I was scared. I declined the amnio and accepted that if my child were to have issues like that, then so be it.

He was born, no sign of Down's. Fast forward to just last year -- he's 10 now -- I took him to the USF genetic counseling in Tampa for testing just to be sure. Having done my homework and reading about other chromosomal defects such as Klinefelter's, I didn't want to take chances. Turns out he's fine, no sign of anything, thank goodness!

I believe that some doctors and certain genetic counselors I encountered so long ago jump the gun, wanting to do these rather invasive tests that are potentially unsafe and can endanger the fetus. I know that amnio is relatively fool proof, but it's still a scary option and to have someone telling you that it's really your only choice is just not good bedside professionalism.

I'm glad I had the courage to tell them no back then -- and glad I had the courage to find out for sure now.