Showing posts with label Balanced Translocation. Show all posts
Showing posts with label Balanced Translocation. Show all posts

Tuesday, August 21, 2012

August ICLW

Welcome to my little piece of the blogging world. I haven’t been here for very long but the benefits I’ve reaped have been wonderful! I am so grateful for the support I have received.
Currently, I am in the middle of a whole new type of TWW. I am going through my second round of IVF…we have two frozen embryos right now and are waiting for the results of the PGD testing. I am really hoping we’ll have results at this time next week. We had to send a blood sample this week in order for the lab to map out our chromosomes as a part of the testing for the embies.
Here is more about us and our journey:
·         I suffered three early miscarriages between October 2010 and July 2011.

·         After the 2nd miscarriage I had the blood work done for the RPL panel and had an HSG. Good news was all was clear on the HSG…bad news? I have a Robertsonian Balanced Translocation. In a nutshell, the long arms of my 13th and 14th chromosomes are fused together. I have all of the correct genetic material but it becomes a problem when trying to conceive.

·         Found an RE in the area based on the recommendation of one of J’s co-workers. His wife gave birth to a healthy baby girl after 5 rounds of IVF that resulted in 3 losses.

·         I did not respond well to the meds in the first round of IVF in May so it was turned into an IUI. BFN L

·         2nd round of IVF produced 10 follicles that resulted in 4 eggs at the time of retrieval. All 4 were mature and all 4 fertilized with ICSI. After 5 days 2 were biopsied and their cells were shipped to NJ for testing.

·         We have a 66% chance that each embryo will be healthy. When I think of that other 34% I just think of the quote above to remember we have a good chance of having at least one healthy embryo. We feel like we’ve already struck out enough and now it’s our chance to hit a home run. (Grand slam if both are healthy!)
·         We live in South TX…all of our friends and family live in MA. It gets lonely for both of us at times. Blogging really helps take away some of the lonely feelings.

·         We have 2 golden retrievers who make us smile each and every day. I don’t know how we would have made it this far without them. I think they have become therapy dogs for us. J

I look forward to reading and commenting this week and getting to know you a bit better.

Happy ICLW!

Saturday, August 18, 2012

Better today

I am feeling so much better today! All went well with appointment this morning...We were both relieved when Dr. A walked in the door behind us. The other doctors are nice and we like them, but we both feel a lot better when we are able to see Dr. A.  The blood draw only needed a little wiggling to get things moving...an improvement over the last few draws! Lining was looking good and I am guessing that my levels were good because I did not receive a call back from the office saying anything else. Started the estr.ace today...still need to consult Dr. Go.ogle about the side effects.

We were both very grateful that we were able to sit and chat with Dr. A after our appointment. It almost didn't happen because our nurse, C, forgot about it. We chatted with her for a bit and got our calendar; checked out and left...next thing we knew C was chasing us down in the parking lot. So glad she did. Dr. A took the time to answer everything and not once did we feel like we were keeping him from anything. He let us know that he emailed the director of the lab in NJ that is doing the PGD testing to confirm the answers. Right now, it looks like they would have to create a special probe in order to test the embryos for the Robertsonian Balanced Translocation specifically. Dr. A did say if it was a balanced translocation the testing would come back as healthy as the embryo would have all of it's genetic material. We have a 66% of each embryo being healthy and right now that feels pretty good! We feel like we've already had our three strikes and are due to hit one out the park! If all goes well we are looking at a transfer date of September 7th. Fingers are crossed!

Oops!! I just realized I hit "publish" without updating you on the embies! We asked Dr. A about their grading system and he said they don't use one. He said it was subjective and in our case it really didn't matter. What was going to matter was the results from the PGD testing. So I guess hearing that they look "really good" truly was a good thing. :) Dr. A also told us that he had to be honest with us and based on our first try at IVF he never thought we would get to the point where 2 were biopsied and sent off for testing. We asked what would happen if we were lucky enough to have both come back healthy; he said he'd transfer both of them. J is a little concerned about that so we'll chat about it over the next few days because for all we know that won't be a deicsion that needs to be made. Fingers crossed, again, that we do have to make that decision!

Thursday, August 9, 2012

To call or not to call

Today is Day 3 for our embies and I am not scheduled to get an update from the embryologist until late morning on Sunday. That seems sooo far away!! I am debating on emailing one of the nurses to see if there is any info -  mainly are they all still there. J thinks I am silly and should just wait until Sunday. So, do I contact the nurse or just wait for the call from the embryologist?

On another note, I talked to my Dad last night and told him about our progress thus far. He was very excited to hear the news and said he could hear it in my voice that I was feeling better about things. That was really  nice to hear. I explained about how our next update is on Sunday and that cells would be shipped off on Monday for the PGD testing. He told me that he really didn't understand my chromosomal abnormality...so I took a few minutes to explain it to him. After I finished he asked if it is hereditary and I replied yes. He said "Hmm...I am guessing that it's on my side then. You know Nana had quite a few miscarriages in between me and your aunt." I've guessed that it was on his side, too, but never said it out loud to him. It made me so sad to hear him say that it must be from his side. Thankfully we spent a few more minutes catching up on things after that so the conversation did not end on that note.

Tuesday, May 29, 2012

More monitoring

Yesterday was another monitoring appointment to make sure I was responding to the higher dosage of meds. I am happy to say that I responded! I was so relieved when the doctor measured a 16mm follicle... the largest seen the other day was a 13, so I was pretty happy. Then after a bit more poking and a little more pressure she found a 20mm!! I was shocked! The doctor seemed really positive after the exam and told me that 20mm was the ticket. Our IUI is scheduled for Thursday morning.

I am going through so many different emotions right now. J said it best when he compared to what we are up against as to being up to bat in the 9th inning. It's as if the doctors and nurses are super excited and positive telling us we are going to hit a home run and they forget that we've already struck out 3 times. We still have a chance of passing along the Balanced Translocation to this baby which most likely means another miscarriage. I am not trying to be a Debbie Downer but it's always in the cards for me and it scares both of us. I am going to keep saying my prayers and stay positive. Maybe, just maybe this time it will be my turn!

Friday, May 18, 2012


Who am I?  Why am I here? I have used that quote more than once after hearing James Stockdale opened the Vice Presidential debate with it in 1992. I realize that probably dates me a bit, but it's part of who I am and why I am here. I am someone of Advanced Maternal Age (I'm 41). One of my biggest fears was becoming "too old" to get pregnant.  Not only do I "suffer" from AMA but I also have a chromosomal abnormality; this was discovered after my second miscarriage last year. I will always be grateful to my Ob/Gyn for sending me to a specialist after 2 instead of waiting until the 3rd, which is the protocol. My abnormality is a Robertsonian Balanced Translocation (http://en.wikipedia.org/wiki/Robertsonian_translocation); most likely this is why we have gone through the miscarriages. Unfortunately, we never had any of the babies tested. I still kick myself for not having the third baby tested.

This month we start our road to IVF with PGD. I am excited, scared, nervous...you name it. I read a quote on a blog that made me decide it was time to jump into the blogging world while I am on this roller coaster. She said "While it’s not fun, it’s definitely better with support from others going through it too." Unfortunately, I cannot remember where I read that so if you are reading this and think "Hey I wrote that." thank you for writing something that gave me the push I needed to try to become a more active member of this club that no one signed up for.