Sorry I haven't updated in awhile but hubby fried the computer & my brother just finally fixed it. As you can tell from the post title we got the results back on our precious Poppy. We got the results over the phone from the Perintologist on Mon & went to see a Geneticist on Tues. Our little one was pretty doomed from the beginning sadly. They found a complete second set of chromosomes, so instead of 2 sets of 23 there were 3 sets of 23 making a total of 69. There are two things that could happen: there could be two sets contributed from the dad or two from the mom. If the two are from the dad the pregnancies are lost very early & can cause a molar pregnancy. In our case, there were two sets of my chromosomes. Out of the two this is the "better" scenario. These pregnancies do tend to make it further sometimes resulting in stillbirths (& rarely live births) but there is no risk of cancer cells like with the molar. In an attempt to look @ the bright side, I am thankful that we lost the baby relatively early. The Geneticist did confirm that there was nothing we did & it was a once off chance of occurring. I am relieved to learn there was a reason & not something we passed on & could pass on to later pregnancies.
The other issue the baby had, was a missing X chromosome. This is known as Turner's Syndrome. By itself, it is compatible with life @ times, but the baby would be very developmentally delayed. The Geneticist was not too concerned about this one as she stated it is something that could of occurred in the cultures they took & that it was also just a chance occurrence. However, it was our plan not to find out the sex of the baby but these results led us to learn that Poppy was not the boy we felt but another precious baby girl. Addy would've (will) make such a great big sister, especially to another girl. I thought finding out her sex would make it harder but it didn't. It made it easier. I feel more connected to her now. And if possible I love her even more. I miss her so much but am so very grateful for the little time God allowed us to have with her.
We had an appt already scheduled with a new RE on Thurs so the timing of the results was perfect. At first I was a bit bummed as the office staff was not too friendly. But thankfully the nurse & Dr were AWESOME!!! He was so incredibly optimistic & so very knowledgeable. We discussed whether or not I "needed" to be assisted since finding out the results. I am so scared to do anything differently than we did with Addy but don't want to get intervention if not necessary. He went over my MTHFR diagnoses & is sending me in to get my homocysteine levels checked. I read about this when I was first diagnosed & it has become more mainstream to look in to these levels as they are a better indicator of the effects of the disorder. I will be getting them on CD 3 (whenever that may be!). He also said to take baby aspirin which I have been doing & continue on the Folbic. He suggested doing clomid which confused me a bit, but sited a recent study done in Germany on women with unexplained miscarriages. The results showed without a doubt that the use of clomid resulted in more live births. I used it with Addy & didn't react to badly & never had more than 2 eggs so I'm all for it. After this the decision to do an IUI was left up to me. Hubby & I talked about it & decided to go for it. If I'm already going to be having some kind of interaction with the clomid, I figured might as well go for it. It worked with Addy. Finally, I am to start progesterone suppositories as soon as I get another positive. Yuck. The best news we got that day was that we did not have to wait to start trying again! Woot woot! So now we are just waiting on my stupid cycle to come back. I am pretty sure I ovulated about 2 wks or so after the D&S based on EWCM & pains in my side. So here's hoping soon!
So I know it is a ton of information! Thanks again for all your kind words & support recently. I will be back soon to update on Addy! I realize it has been so long since I've talked about how she is doing & growing up soooo fast.
The other issue the baby had, was a missing X chromosome. This is known as Turner's Syndrome. By itself, it is compatible with life @ times, but the baby would be very developmentally delayed. The Geneticist was not too concerned about this one as she stated it is something that could of occurred in the cultures they took & that it was also just a chance occurrence. However, it was our plan not to find out the sex of the baby but these results led us to learn that Poppy was not the boy we felt but another precious baby girl. Addy would've (will) make such a great big sister, especially to another girl. I thought finding out her sex would make it harder but it didn't. It made it easier. I feel more connected to her now. And if possible I love her even more. I miss her so much but am so very grateful for the little time God allowed us to have with her.
We had an appt already scheduled with a new RE on Thurs so the timing of the results was perfect. At first I was a bit bummed as the office staff was not too friendly. But thankfully the nurse & Dr were AWESOME!!! He was so incredibly optimistic & so very knowledgeable. We discussed whether or not I "needed" to be assisted since finding out the results. I am so scared to do anything differently than we did with Addy but don't want to get intervention if not necessary. He went over my MTHFR diagnoses & is sending me in to get my homocysteine levels checked. I read about this when I was first diagnosed & it has become more mainstream to look in to these levels as they are a better indicator of the effects of the disorder. I will be getting them on CD 3 (whenever that may be!). He also said to take baby aspirin which I have been doing & continue on the Folbic. He suggested doing clomid which confused me a bit, but sited a recent study done in Germany on women with unexplained miscarriages. The results showed without a doubt that the use of clomid resulted in more live births. I used it with Addy & didn't react to badly & never had more than 2 eggs so I'm all for it. After this the decision to do an IUI was left up to me. Hubby & I talked about it & decided to go for it. If I'm already going to be having some kind of interaction with the clomid, I figured might as well go for it. It worked with Addy. Finally, I am to start progesterone suppositories as soon as I get another positive. Yuck. The best news we got that day was that we did not have to wait to start trying again! Woot woot! So now we are just waiting on my stupid cycle to come back. I am pretty sure I ovulated about 2 wks or so after the D&S based on EWCM & pains in my side. So here's hoping soon!
So I know it is a ton of information! Thanks again for all your kind words & support recently. I will be back soon to update on Addy! I realize it has been so long since I've talked about how she is doing & growing up soooo fast.
6 comments:
Ella said...
Wow, that is a lot to take in - you are a strong and brave woman Dawn. I am glad you have answers and that you will be able to try again quickly... even though it is still so very hard :( I would want to do the same thing in your shoes, though.
I have the MTHFR mutation as well but my homocysteine levels have always been normal. I confuse all of my doctors, they don't quite know what to do with me... but the baby aspirin and the folate/b6 supp, and the progesterone after a BFP are exactly what my docs prescribed for me, too. Sounds like you are in good hands and I'm so glad you like the new RE!
Looking forward to the Addy update!
Nat said...
Oh, Dawn. I am so sorry. I'm glad you know what happened, though. I'll still keep you and your little family in my prayers. Good luck with all the upcoming baby making.
Jess said...
I too have the MTHFR mutation, with normal homocysteine levels. I unfortunately had a blood clot due to birth control (which turns out I shouldn't have even worried about in the first place...) so now whenever I get a BFP I have to start blood thinners. I am on 4mg additional folic acid and the baby aspirin also. My doctor says we will test progesterone with positive test and if it is a good level I can avoid progesterone supplements. I just finished round #3 of Clomid and it was a bust (again). So onto a hsg and hope for the future.
Good Luck! Here's to AF soon and hopefully a BFP soon after that!!
LuckyOnce said...
My last loss had triploidy as well. Interesting. I'm glad that you have some answers and that there will be no room for you to even consider that you may have had anything to do with the loss. Comforting in its own way. I'm so glad that you like your new doctor. Sounds like he's really paying attention, which is so critical. Good luck with trying again!
Shandrea said...
I am so glad to hear from you and know that you are okay. I'm glad that you got some kind of answers and that you don't have to wait to start trying again. I so pray that God blesses you and hubby immensely. Know that I am wishing you all the best. ((HUGS))
CeCe said...
That must have been a lot of information to digest, but sounds like you are handling things really well. All the best to you moving forward!