Dr. Wonderful called today and all Mr. Jem's genetic testing results for crazy, scary genetic diseases were negative.
We didn't test for polycystic kidney disease, as it would take too long and Mr. Jem doesn't have it. We did test for the full panel of Jewish dissent (intentional incorrect spelling) diseases.
Yippee!
Showing posts with label genetic testing. Show all posts
Showing posts with label genetic testing. Show all posts
Wednesday, October 14, 2009
Friday, October 2, 2009
The wrong kind of 2WW
I should be starting stimming today. Instead, my two week wait will mean getting back on the Pill for 10 days and start start stimming in two weeks, on Oct 16. In the meantime, we're still discussing doing the genetic testing.
I'm disappointed not to be starting IVF (for real) and having to put it off. And I'm also a bit relieved to wait two weeks. I have a lot going on - charity golf event on Oct 11 that I have been working on (the charity part) for months.
Plus, I'm scared the IVF won't work. If we haven't started yet, we haven't failed yet. Of course, the inverse is true, too. We haven't gotten pregnant, either. I'm pretty darn scared of both - scared of a failed IVF AND scared of actually getting knocked up.
Ambivalent. But still moving forward.
Question for you all: What do you have mixed feelings about?
Jem
I'm disappointed not to be starting IVF (for real) and having to put it off. And I'm also a bit relieved to wait two weeks. I have a lot going on - charity golf event on Oct 11 that I have been working on (the charity part) for months.
Plus, I'm scared the IVF won't work. If we haven't started yet, we haven't failed yet. Of course, the inverse is true, too. We haven't gotten pregnant, either. I'm pretty darn scared of both - scared of a failed IVF AND scared of actually getting knocked up.
Ambivalent. But still moving forward.
Question for you all: What do you have mixed feelings about?
Jem
Thursday, October 1, 2009
Genetic Testing
Mr. Jem and I had a long chat with Jean (not her real name), the genetics counsellor yesterday as Mr. Jem has Polycystic Kidney Disease (PKD) in his family. His father, paternal uncle, and grandfather all had it. His father is currently on dialysis because of it. Obviously this is something we DON'T want to pass on to our child-to-be.
The good news is that Mr. Jem does NOT have any cysts, and at age 46, if he was going to get them, he would have already. Mr. Jem has seen two separate doctors over the past three years, and had two u/s that showed no cysts. None. I'm sure there are some of you out there who know what a happy thing that is.
PKD is not a disease that skips generations, so the likelihood of Mr. Jem being a carrier of the gene is almost zero. Testing takes 8-12 weeks for results, yes, you read that right, eight to TWELVE! Clearly, we don't want to put off IVF for 2 to 3 months. Not happening. If we thought there was the smallest chance of passing on the disease we would, of course, but Jean agreed with us.
The other thing we discussed with Jean was testing for diseases for people of Jewish ancestry. Luckily this only takes two weeks to get the results.
Dr. Wonderful wants to put me back on BCPs and push back starting stims until Oct 16 (instead of tomorrow, Oct 2). I suppose I can live with this.
Mr. Jem doesn't want to do any of the test. If we weren't going through ART, this wouldn't have spoken to a genetics counsellor. I'm scared as it is that I'll have a baby with chromosome issues, which is much more of a possibility than PKD or Tay-Sachs disease.
Arghh. What to do? Dr. W wants us to test. Mr. Jem doesn't.
Yet another reason that IF sux!
Jem
The good news is that Mr. Jem does NOT have any cysts, and at age 46, if he was going to get them, he would have already. Mr. Jem has seen two separate doctors over the past three years, and had two u/s that showed no cysts. None. I'm sure there are some of you out there who know what a happy thing that is.
PKD is not a disease that skips generations, so the likelihood of Mr. Jem being a carrier of the gene is almost zero. Testing takes 8-12 weeks for results, yes, you read that right, eight to TWELVE! Clearly, we don't want to put off IVF for 2 to 3 months. Not happening. If we thought there was the smallest chance of passing on the disease we would, of course, but Jean agreed with us.
The other thing we discussed with Jean was testing for diseases for people of Jewish ancestry. Luckily this only takes two weeks to get the results.
Dr. Wonderful wants to put me back on BCPs and push back starting stims until Oct 16 (instead of tomorrow, Oct 2). I suppose I can live with this.
Mr. Jem doesn't want to do any of the test. If we weren't going through ART, this wouldn't have spoken to a genetics counsellor. I'm scared as it is that I'll have a baby with chromosome issues, which is much more of a possibility than PKD or Tay-Sachs disease.
Arghh. What to do? Dr. W wants us to test. Mr. Jem doesn't.
Yet another reason that IF sux!
Jem
Tuesday, September 29, 2009
Red Light / Green Light

More like "Yellow light"
Yesterday I had my baseline U/S. No problem there. Uterine lining thin, ovaries resting. Check.
Got voice message from Dr. Wonderful: "Jem, I've left you messages at work (bad girl, travelling, I didn't check that voice mail while I was away...) and we may have a delay..."
WTF!!!???
Dr. Wonderful continued... "I just got a letter from Dr. Johnson (not his real name), the Urologist, who said that he saw Mr. Jem and Mr. Jem has polycystic kidney disease in his family. You need to see a genetic counsellor asap and we need to put the IVF cycle on hold until we know if Mr. Jem carries the gene."
Then Dr. Wonderful said, "If Mr. Jem is a carrier, we can still do IVF, we will do genetic testing on the embryos to select those without the gene. The most important thing is for you to have a healthy baby."
So what does this mean? It means that we have an appointment with the genetic counsellor Wed a.m. Hopefully we can do the testing quickly and together with Dr. Wonderful we will make a decision on what to do next. I suspect Dr. Wonderful will put me back on the BPC pills again for a couple of weeks and get us back on the IVF train.
I was poised and ready to start stims on Friday. Arggghhhh!
Has anyone run into this type of thing?
Jem
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