Neurofibromatosis & RPL...I have questions

JJoy · 10-28-2008, 05:24 PM

Although I have not been diagnosed with NF, I do have a family history (my brother was diagnosed at birth & cousin may likely be diagnosed as well). I've had recurrent pregnancy loss and my RE just informed me that NF as a genetic factor could have some bearing in this. He has suggested that I undergo genetic testing to determine if I am a carrier,etc. Does anyone know anything about this? (a) NF and pregnancy--or loss thereof, and (b) genetic testing--what is the process? what are costs/insurance implications?

aswanson · 10-31-2008, 12:27 PM

I can't tell you anything about the NF but I have a genetic disorder so I can tell you some about single gene genetic testing.

First I would say that most insurance companies cover it. It is a very simple blood test. They might also ask for you parents and/or brother's blood to test as well. If you are a carrier, your RE might suggest doing PGD. PGD lowers pregnancy rates a bit because they biopsy 3 day embryos (by taking one cell out) which can sometimes cause the embryo to stop growing. To learn more about PGD, check out this web site http://www.genesisgenetics.org/ Feel free to PM me if you have any questions about PGD.

JJoy · 11-01-2008, 09:16 AM

Thanks so much for the information ASWANSON! This may seem like a naive thing to be concerned with (and it may very well be...I haven't done IVF yet so, I'm not entirely familiar with the process) but I have some issue with the ethical aspects of PGD & IVF. What happens if an embryo is damaged or dies because of the testing? What happens to the ones you don't use? what's worse? I think you may understand these questions better than most because you are 'in the thick' of this process. Any insight would be greatly appreciated. thanks!

aswanson · 11-01-2008, 10:23 AM

It is kind of hard. I have been thinking about doing PGD for YEARS. My brother was a hemophiliac and I have known I was a carrier since I was 11. My brother, uncle, and cousin were all infected with AIDS due to their hemophilia (the medicine is a blood product and during the 1980's about 80% of hemophiliacs were infected). My brother and uncle have since passed away. I have always known that if I had a hemophiliac for a son I would just be a mess. How could I give him medication that might possibly be tainted? (sometimes dirty blood still gets through) So for me, personally, hemophilia isn't an option.

But then there is the issue of whether I am OK with carriers (with hemophilia my boys have a 50% chance of being affected and my girls have a 50% chance of being carriers). DH and I decided we would try for no carriers. God forbid our teenage carrier daughter got pregnant, we might be back in the same situation we are trying to avoid. And then there is the thought that if we avoid carriers, our daughters can conceive naturally without any concerns.

So we went through the first IVF with those thoughts. The quality of our embryos wasn't great and we weren't left with much but we did opt to not implant a viable embryo that was a carrier. For whatever reason, I hadn't thought how I would feel about everything before hand but it is/was a little hard. The second time around, we had 12 blasts but the PGD testing didn't work (this is not a common problem - it has only happened to the lab 1 other time in the 20+ years they have been doing this - but that is a story for another time). So when they didn't get any data on the embryos they froze them all. Now we are doing an FET with those embyos and we have to defrost them ALL and test them ALL and I have no idea what we are going to do with the ones that we don't implant. It is bothering me a lot more this time. Probably because there is a possibility that we are going to have to disgard perfectly normal unaffected embryos just because there is nothing else to be done with them (I am going to try and see if they can be re-frozen but that freaks me out too and the doc doesn't seem optimistic).

I tell you all of this because there are issues that arrise when you start down this road. It is such a personal decision and I think the only thing you can do is look inside and try to figure out how you feel about everything. For me, it is worth it. I delt with hemophilia/AIDS once in my life and I know that PGD is my path. But it is definitely not for everyone. Here is the other thing. You don't have to disgard the ones that are affected. You can freeze them. You can pick the non-affect ones and freeze the affected ones and leave the decision with what to do with them for another day. My PGD doc started our first conversation by saying that he didn't care if we opted to have a hemophiliac. He would just diagnose our embryos and leave all decisions about implantation up to us... no pressure. if you can find an RE that feels the same way, you might be able to avoid the issue for now.

As far as the PGD hurting the embryos... it can and does and there is no getting around that. Some of them stop growing right after the biopsy. There is no guarantee that they would have made it to blast anyway but you can definitely tell that the biopsy was what made them arrest. It is just one of the costs of PGD that you have to be willing to accept.

Hope all this helps - Good Luck!

JJoy · 11-03-2008, 05:33 PM

You have given me a lot to consider. Thank you! Wow, how brave you are to have gone through all that you've been through and still be courageous enough to believe! I'm so sorry to hear about your brother and your uncle. My brother is still living but his disease causes disfiguring tumors. He's in a lot of pain but remarkably, until fairly recently, he worked a pretty physical job. He's a real trooper. I have a lot to think about but you definitely answered some of my questions. I really appreciate you taking the time to share your story with me. I will pray for you and your family. I hope that everything goes for you just as you dream! Hugs to you!!!

10-28-2008, 05:24 PM	#1 (permalink)
JJoy Registered User Join Date: Oct 2008 Posts: 12	Neurofibromatosis & RPL...I have questions Although I have not been diagnosed with NF, I do have a family history (my brother was diagnosed at birth & cousin may likely be diagnosed as well). I've had recurrent pregnancy loss and my RE just informed me that NF as a genetic factor could have some bearing in this. He has suggested that I undergo genetic testing to determine if I am a carrier,etc. Does anyone know anything about this? (a) NF and pregnancy--or loss thereof, and (b) genetic testing--what is the process? what are costs/insurance implications?

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10-31-2008, 12:27 PM	#2 (permalink)
aswanson 1000-4999 post queen of hearts Join Date: Sep 2006 Location: CA Posts: 1,125	I can't tell you anything about the NF but I have a genetic disorder so I can tell you some about single gene genetic testing. First I would say that most insurance companies cover it. It is a very simple blood test. They might also ask for you parents and/or brother's blood to test as well. If you are a carrier, your RE might suggest doing PGD. PGD lowers pregnancy rates a bit because they biopsy 3 day embryos (by taking one cell out) which can sometimes cause the embryo to stop growing. To learn more about PGD, check out this web site http://www.genesisgenetics.org/ Feel free to PM me if you have any questions about PGD.

11-01-2008, 09:16 AM	#3 (permalink)
JJoy Registered User Join Date: Oct 2008 Posts: 12	Thanks so much for the information ASWANSON! This may seem like a naive thing to be concerned with (and it may very well be...I haven't done IVF yet so, I'm not entirely familiar with the process) but I have some issue with the ethical aspects of PGD & IVF. What happens if an embryo is damaged or dies because of the testing? What happens to the ones you don't use? what's worse? I think you may understand these questions better than most because you are 'in the thick' of this process. Any insight would be greatly appreciated. thanks!

11-01-2008, 10:23 AM	#4 (permalink)
aswanson 1000-4999 post queen of hearts Join Date: Sep 2006 Location: CA Posts: 1,125	It is kind of hard. I have been thinking about doing PGD for YEARS. My brother was a hemophiliac and I have known I was a carrier since I was 11. My brother, uncle, and cousin were all infected with AIDS due to their hemophilia (the medicine is a blood product and during the 1980's about 80% of hemophiliacs were infected). My brother and uncle have since passed away. I have always known that if I had a hemophiliac for a son I would just be a mess. How could I give him medication that might possibly be tainted? (sometimes dirty blood still gets through) So for me, personally, hemophilia isn't an option. But then there is the issue of whether I am OK with carriers (with hemophilia my boys have a 50% chance of being affected and my girls have a 50% chance of being carriers). DH and I decided we would try for no carriers. God forbid our teenage carrier daughter got pregnant, we might be back in the same situation we are trying to avoid. And then there is the thought that if we avoid carriers, our daughters can conceive naturally without any concerns. So we went through the first IVF with those thoughts. The quality of our embryos wasn't great and we weren't left with much but we did opt to not implant a viable embryo that was a carrier. For whatever reason, I hadn't thought how I would feel about everything before hand but it is/was a little hard. The second time around, we had 12 blasts but the PGD testing didn't work (this is not a common problem - it has only happened to the lab 1 other time in the 20+ years they have been doing this - but that is a story for another time). So when they didn't get any data on the embryos they froze them all. Now we are doing an FET with those embyos and we have to defrost them ALL and test them ALL and I have no idea what we are going to do with the ones that we don't implant. It is bothering me a lot more this time. Probably because there is a possibility that we are going to have to disgard perfectly normal unaffected embryos just because there is nothing else to be done with them (I am going to try and see if they can be re-frozen but that freaks me out too and the doc doesn't seem optimistic). I tell you all of this because there are issues that arrise when you start down this road. It is such a personal decision and I think the only thing you can do is look inside and try to figure out how you feel about everything. For me, it is worth it. I delt with hemophilia/AIDS once in my life and I know that PGD is my path. But it is definitely not for everyone. Here is the other thing. You don't have to disgard the ones that are affected. You can freeze them. You can pick the non-affect ones and freeze the affected ones and leave the decision with what to do with them for another day. My PGD doc started our first conversation by saying that he didn't care if we opted to have a hemophiliac. He would just diagnose our embryos and leave all decisions about implantation up to us... no pressure. if you can find an RE that feels the same way, you might be able to avoid the issue for now. As far as the PGD hurting the embryos... it can and does and there is no getting around that. Some of them stop growing right after the biopsy. There is no guarantee that they would have made it to blast anyway but you can definitely tell that the biopsy was what made them arrest. It is just one of the costs of PGD that you have to be willing to accept. Hope all this helps - Good Luck!

11-03-2008, 05:33 PM	#5 (permalink)
JJoy Registered User Join Date: Oct 2008 Posts: 12	You have given me a lot to consider. Thank you! Wow, how brave you are to have gone through all that you've been through and still be courageous enough to believe! I'm so sorry to hear about your brother and your uncle. My brother is still living but his disease causes disfiguring tumors. He's in a lot of pain but remarkably, until fairly recently, he worked a pretty physical job. He's a real trooper. I have a lot to think about but you definitely answered some of my questions. I really appreciate you taking the time to share your story with me. I will pray for you and your family. I hope that everything goes for you just as you dream! Hugs to you!!!