8:20 AM
Last night my OB/GYN called me. She had talked to the geneticist in town about what happened to my husband and me and to ask if Preimplantation Genetic Diagnosis (PGD) is available for Spinal Muscle Atrophy (SMA). As I already knew, PGD is available for SMA. That’s the good news. The not so great news is that PGD is not available for certain mutations of SMA. That caused my stomach to sink. I had my hopes focused on this testing. In the back of my mind I was thinking about the geneticist in Portland who told us there was no PGD available for this disorder. Maybe Orion had the kind of mutation they cannot test for.
I was feeling pretty low the rest of the evening because of the phone call. Dom and I are starting to get used to bad news though. My doctor gave me the geneticist’s phone number that she talked to, so.
I realize that Orion's SMA it is what it is. There is nothing I can do to change the outcome, so I shouldn't be so worried. If they can test for it they will otherwise we will just try and see if we can have a healthy child naturally one more time. There is a 75% chance of a healthy child after all. I would just feel much better knowing the condition has been tested for and get over that hurdle.
I am doing what I can right now though by requesting medical records and I'm going to be calling the geneticist in town to talk and find out if testing can be done or not prior to becoming pregnant. Once I know that I can start dealing with it instead of thinking about it and wondering.
10 AM
I just talked to the geneticist in town and she said there is an 85% chance that they CAN test for this disorder. We are a bit concerned (she and I) because she knew the geneticist in Portland that gave us the diagnosis and wondered why he said there was no preimplantation testing available. Maybe he knew what kind of mutation it was and that's why he said what he did. This new doctor said that maybe he was not up to date on all the testing for this specific disorder and it is a special interest for her, so she is all caught up on it.
Wednesday, June 28, 2006
Tuesday, June 27, 2006
My situation
I’ve decided to undergo Preimplantation Genetic Diagnosis and InVitro Fertilization for my next pregnancy…why you ask?
I just had a baby boy on 5/28/06. My husband and I named him Orion. I had to have a c-section and was concerned instantly when he came out because I didn’t hear my baby crying. I knew something was wrong. He was instantly taken to the NICU and I was sent back to my room for recovery. That night the doctors told us they didn’t know what was wrong with my baby and he was very sick. The next morning the doctors informed me that my baby might die. They wanted to transport him to another hospital a few hours away to undergo more testing. My doctor told me she would let me leave the hospital a day early so my husband and I could be with our baby. I had a hard time sleeping that night because I was very worried that I was going to get a phone call from the other hospital with bad news. To make a long story short my baby did pass away on 6/10/06. It was something I do not wish to experience again.
My baby was diagnosed with Spinal Muscle Atrophy. This was a genetic disorder that my husband and I are both carriers for. We had no idea we carried this condition and unwittingly passed it on to our boy. The geneticist in Portland told us that there was no testing for this disorder until week 14 of pregnancy and it would be done via amniocentesis. However, I saw my OB/GYN here for a follow up appointment and she suggested I get embryonic testing done. She said she would check with the geneticist in town for me. I started searching on the internet for testing since my doctor told me there might be some available and I’m thrilled to have found some in Portland. Now it makes me wonder why the geneticist in Portland was not aware of it That’s beside the point though. I’m just happy to have more hope.
My husband and I decided that PGD (preimplantation genetic diagnosis) is the way to go for us. If this testing was not available we probably would get pregnant again at some point and take a gamble at our 25% chance that this would happen to future children, but since the testing is available we are going to go with a 98% chance that it will not happen to future children.
My OB/GYN told me that I could get pregnant as soon as 3 months after Orion was born, so that would be in late August. I set an appointment up for the infertility clinic for July 21st. I’m so excited to ask the doctor there questions and plan cycles, etc. I’m actually obsessed with the thought of getting pregnant again. My doctor tells me that is completely normal. I kind of hope we have a girl this time so we don’t compare with Orion.
I plan on documenting my journey to pregnancy and motherhood again in this blog. It will be a nice way to release some fears, excitement, and anticipation. Who knows, I might even have a multiple pregnancy this time. At this point my husband and I would welcome twins.
In preparation for my journey into a second pregnancy I am signing up for short term disability for my next maternity leave. I will also be starting a work out and diet plan on July 10th since I have to wait six weeks to work out after a c-section to loose more weight before I start gaining again. I’m only 8 pounds away from my pre-pregnancy weight, but I’d like to loose a bit more before getting pregnant again.
I just had a baby boy on 5/28/06. My husband and I named him Orion. I had to have a c-section and was concerned instantly when he came out because I didn’t hear my baby crying. I knew something was wrong. He was instantly taken to the NICU and I was sent back to my room for recovery. That night the doctors told us they didn’t know what was wrong with my baby and he was very sick. The next morning the doctors informed me that my baby might die. They wanted to transport him to another hospital a few hours away to undergo more testing. My doctor told me she would let me leave the hospital a day early so my husband and I could be with our baby. I had a hard time sleeping that night because I was very worried that I was going to get a phone call from the other hospital with bad news. To make a long story short my baby did pass away on 6/10/06. It was something I do not wish to experience again.
My baby was diagnosed with Spinal Muscle Atrophy. This was a genetic disorder that my husband and I are both carriers for. We had no idea we carried this condition and unwittingly passed it on to our boy. The geneticist in Portland told us that there was no testing for this disorder until week 14 of pregnancy and it would be done via amniocentesis. However, I saw my OB/GYN here for a follow up appointment and she suggested I get embryonic testing done. She said she would check with the geneticist in town for me. I started searching on the internet for testing since my doctor told me there might be some available and I’m thrilled to have found some in Portland. Now it makes me wonder why the geneticist in Portland was not aware of it That’s beside the point though. I’m just happy to have more hope.
My husband and I decided that PGD (preimplantation genetic diagnosis) is the way to go for us. If this testing was not available we probably would get pregnant again at some point and take a gamble at our 25% chance that this would happen to future children, but since the testing is available we are going to go with a 98% chance that it will not happen to future children.
My OB/GYN told me that I could get pregnant as soon as 3 months after Orion was born, so that would be in late August. I set an appointment up for the infertility clinic for July 21st. I’m so excited to ask the doctor there questions and plan cycles, etc. I’m actually obsessed with the thought of getting pregnant again. My doctor tells me that is completely normal. I kind of hope we have a girl this time so we don’t compare with Orion.
I plan on documenting my journey to pregnancy and motherhood again in this blog. It will be a nice way to release some fears, excitement, and anticipation. Who knows, I might even have a multiple pregnancy this time. At this point my husband and I would welcome twins.
In preparation for my journey into a second pregnancy I am signing up for short term disability for my next maternity leave. I will also be starting a work out and diet plan on July 10th since I have to wait six weeks to work out after a c-section to loose more weight before I start gaining again. I’m only 8 pounds away from my pre-pregnancy weight, but I’d like to loose a bit more before getting pregnant again.
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