First of all, we would like to thank everyone for their kind words. It's a wonderful feeling to know we have such loving, caring and supportive family and friends.
We received the preliminary test results for T13, 18 & 21, they are "unclear" at this time. But, they do show an abnormality with T18 - instead of 3 dots they see 2 1/2 dots. Based on this, they believe the baby does not have "full" Trisomy 18 (non-hereditary type and 95% of T18 patients), but things seem to be leaning towards a "partial" Trisomy 18 (hereditary type and more rare form). Although, the outcome does not change for the baby based on "full or partial" T18. With "partial", our chances for another child with the same condition are high.
The genetic counselor has placed a rush on Ryan and my genetic karyotyping, the results will be back tomorrow instead of 2 weeks. They are hoping our karyotyping will give them the pieces they need to make a diagnosis. My guess is that, I'm a carrier and since "partial" T18 is rare, this is why the dots look "unclear" to the lab. With our information, the genecists will also be able to give us an idea of our chances for having a healthy child in the future.
The full report on the baby's chromosomes will not be back until next week, the placental cells need to grow before the testing can be done. The lab forgot to send the baby's gender to our genetic counselor so tomorrow we will find that out as well as what maybe going on. No matter what they find, the prognosis is poor when a problem is found on chromosome 18.
Thursday, February 28, 2008
Wednesday, February 27, 2008
Why me?
Last night I was laying in bed after posting the blog and thought, I guess I never really explained what I'm feeling now. Let's start off by saying"Why me?", I feel that I'm a pretty nice person, I don't go out of my way to hurt or cause problems for anyone, tell the cashier when she's rung something up wrong - I really believe in karma so I try and always do the right thing. So why do bad things happen to good people?
Again, the worst day of my life was last Friday. I have a wonderful OB, she was very gentle and honest with us when breaking the news. For me, the Trisomy 18 Foundation has been a wonderful site to share my feelings with others faced with the same condition. One lady posted her OB told her over the phone and said "your child is incompatible with life". Wow, words can be very damaging. This is why I'm not up for phone calls at this time, I can barely deal with what is going on, let alone discuss it on the phone.
I still can't figure out "Why has this baby survived and overcome everything stacked against her (I have felt the baby is a girl from the moment I found out we were expecting - tomorrow's results will tell us the baby's gender). The heart beat has been great, I really think she's so strong and an amazing fighter - more than I ever will be. But, the ultrasounds tell a different story of how sick she really is, I guess my biggest fear right now is that she will suffer. I just pray God will give her her wings early if she will suffer in anyway. I just have this terrible suspicion that I'm a carrier and I've caused all this pain for our precious baby. Maybe I'm being sent a message telling me, "have your genetics tested so you will be able to have another healthy baby someday". I just wish I had listened to my inner voice earlier and had insisted on the genetic testing. With IVF (invitro) they are able to do genetic testing on the embryos prior to transferring into the mother. We have 2 frozen, which can still be tested if we decide to go down that road again.
Coping, unless you have been faced with the loss of a child, you really do not know what someone is feeling. December was a very difficult month, with the emotions of IVF and most of all my best friend was devastated by the loss of her twins, she has been amazing support for me. She truly understands the feelings I'm experiencing right now, looking back I just wish I could have been more support for her. It's the simple things that matter during a situation like this, like the emails she sends daily just to tell me she thinking of me, respecting our privacy and most of all providing love and support.
Ryan also has been wonderful during all of this, he watched Lily all weekend so I could either cry or research T18 before our visit with the specialist. I thought it was strange when he told me he thought I was doing an amazing job with Lily (I was thinking the same of him), despite what was going on. I told him, this maybe the only child we have and I don't want to mess things up with her. He's really been my rock to lean on, he's an incredible husband and father. I love him dearly.
As I said before, Lily is even more of a blessing and we are just amazed at how perfect she really is. She is very chatty, she has just started saying "I love you" which breaks my heart at the same time because I will never hear this baby say those words and Lily will never know her younger brother or sister. She continues to love going to music class and gymnastics. We went to the zoo last Friday afternoon, just to get out of the house and see the beautiful smile Lily gets on her face from the animals. I find myself being so much more patient with her and giving her about a million hugs and kisses a day.
Again, the worst day of my life was last Friday. I have a wonderful OB, she was very gentle and honest with us when breaking the news. For me, the Trisomy 18 Foundation has been a wonderful site to share my feelings with others faced with the same condition. One lady posted her OB told her over the phone and said "your child is incompatible with life". Wow, words can be very damaging. This is why I'm not up for phone calls at this time, I can barely deal with what is going on, let alone discuss it on the phone.
I still can't figure out "Why has this baby survived and overcome everything stacked against her (I have felt the baby is a girl from the moment I found out we were expecting - tomorrow's results will tell us the baby's gender). The heart beat has been great, I really think she's so strong and an amazing fighter - more than I ever will be. But, the ultrasounds tell a different story of how sick she really is, I guess my biggest fear right now is that she will suffer. I just pray God will give her her wings early if she will suffer in anyway. I just have this terrible suspicion that I'm a carrier and I've caused all this pain for our precious baby. Maybe I'm being sent a message telling me, "have your genetics tested so you will be able to have another healthy baby someday". I just wish I had listened to my inner voice earlier and had insisted on the genetic testing. With IVF (invitro) they are able to do genetic testing on the embryos prior to transferring into the mother. We have 2 frozen, which can still be tested if we decide to go down that road again.
Coping, unless you have been faced with the loss of a child, you really do not know what someone is feeling. December was a very difficult month, with the emotions of IVF and most of all my best friend was devastated by the loss of her twins, she has been amazing support for me. She truly understands the feelings I'm experiencing right now, looking back I just wish I could have been more support for her. It's the simple things that matter during a situation like this, like the emails she sends daily just to tell me she thinking of me, respecting our privacy and most of all providing love and support.
Ryan also has been wonderful during all of this, he watched Lily all weekend so I could either cry or research T18 before our visit with the specialist. I thought it was strange when he told me he thought I was doing an amazing job with Lily (I was thinking the same of him), despite what was going on. I told him, this maybe the only child we have and I don't want to mess things up with her. He's really been my rock to lean on, he's an incredible husband and father. I love him dearly.
As I said before, Lily is even more of a blessing and we are just amazed at how perfect she really is. She is very chatty, she has just started saying "I love you" which breaks my heart at the same time because I will never hear this baby say those words and Lily will never know her younger brother or sister. She continues to love going to music class and gymnastics. We went to the zoo last Friday afternoon, just to get out of the house and see the beautiful smile Lily gets on her face from the animals. I find myself being so much more patient with her and giving her about a million hugs and kisses a day.
Many of you know that I've been taking quilting classes, my Aunt Joanie is an extremely talented quilter and designer. She is helping me design a quilt that I will have as a tribute to our baby that will hang in my bedroom. This is something that will keep me busy and hopefully my mind off of things.
So I don't end on a sad note, the odds of having a child with Trisomy 18 is 1 in 3000 live births but I've seen it as high as 1:10,000. Ryan said "Why haven't I ever hit those odds in Vegas?" Maybe our luck will change and the house in Phoenix will sell, we need some sort of good news in our lives.
Tuesday, February 26, 2008
How I'm Feeling
I decided to start blogging again to get out what I'm feeling and let everyone know what we are going through, for some strange reason it feels better to write about what's happening. I'm not up to talking about it on the phone, I'd just end up crying in your ear. I've not gotten much sleep over the past few days so I hope this makes sense.
Here's how our life has been for the past few days, Friday started out great, we were excited to see the baby again on the ultrasound. I remember last month when we filled out paperwork, this was an optional ultrasound and "may not be covered by insurance and cost the patient $300" we giggled about this and said "what's another $300 after invitro". Of course, we thought the baby looked perfect, last month it looked like a little blob on the screen but this time we saw the 2 arms and legs. I remember saying "wow, look how much the baby has grown in a month, no wonder I'm hungry all the time". Our OB was running behind and I knew Ryan had a lot of work to do before we left for Florida, so I said go ahead and go back to work. He was unsure but I assured him things were fine, the ultrasound looked perfect.
The first time I knew things were not good was when the nurse brought me back to the room without taking my weight (the test we were in for requires weight, blood and ultrasound done that day), I'll never forget her saying "the doctor wants to see you first", this is when I started to panic and called Ryan back to the office. The doctor explained the ultrasound revealed abnormalities with the cranium and a high nuchal translucency (this measurement detects chromosome defects) - she was 99% sure the baby had Trisomy 18 (T18). I asked how often she sees this condition, she said she's only seen this 3 or 4 times in her career. I requested a second opinion and left the office in tears. Then continued to cry and did as much research as I could this past weekend.
This feels like the cruelest joke being played on us, first having the fertility MD tell us our chances for getting pregnant were not good due to the quality of our embryos (he had a hunch at the time that something genetic was going on due to our high loss of embryos, we started with 31 and ended with 4) so when I found out we were pregnant it seemed like a miracle. And now, I think how in the world did this baby survive? Most T18 babies or babies with chromosome issues miscarry early and you never know why - I guess there is a reason for this. With my sister having a non-diagnosed developmental disorder and a another distant aunt with the same - the geneticists were baffled why I was never tested. I've always discussed this with the MDs but everyone thought it was a gene mutation and nothing hereditary. Now, I'm pissed that a simple blood test would tell if I'm a carrier. Although, it is rare that I would be a carrier of T18 - but it makes sense to me right now.
Today, we went to see the Perinatologist whom is also a geneticist. She was just wonderful to us, we had another ultrasound. They have the best ultrasound on the market so they really can see quite a bit, I was amazed at how clear things were. She didn't give us the news we wanted to hear, the baby has a halo of fluid around it, which is consistent with a chromosome defect. She performed a CVS (chorionic villa sampling), a sample of the placenta is taken and sent off for genetic testing. It's too early to do a amnio, which looks at the fetal cells specifically (actually, there is a difference in genetic material between the placenta and fetus). The results will be back in 2 days for the 3 most common chromosome defects (13, 18 and 21). A total of 9 chromosomes will be looked at but, those results will not be back for 10 days and 14 days for Ryan and my analysis. I also asked if they saw this condition often, we were told again it's a rare condition and they see only a few cases a year (anyone in CO would be sent to this office).
So you are probably wondering what is Trisomy 18? I was too, I remembered back to when I was pregnant with Lily and thought that would be a terrible diagnosis for a parent to receive. T-18 is the second most common chromosome disorder, right behind Trisomy 21 (Down's Syndrome). Trisomy means three, so trisomy 18 results in 3 chromosomes in the 18th position, a "normal" person has 2 chromosomes at each of the 26 positions. T-18 is a multi-organ disorder, affecting the brain, heart, kidneys, GI tract and esophagus for starters. Most babies do not survive to birth, the babies that do typically live only a few hours to days. 10% of the babies born will live to one year.
I've found so much support at the Trisomy 18 Foundation website. You might want to check it out to better understand the condition: trisomy18.org
Ryan and I just look at Lily and think it's a miracle that she is so perfect. Please continue to respect our privacy during this difficult time. I'll keep you all posted on what's happening here. The best thing you can do for us during this time is to keep us in your prayers.
Here's how our life has been for the past few days, Friday started out great, we were excited to see the baby again on the ultrasound. I remember last month when we filled out paperwork, this was an optional ultrasound and "may not be covered by insurance and cost the patient $300" we giggled about this and said "what's another $300 after invitro". Of course, we thought the baby looked perfect, last month it looked like a little blob on the screen but this time we saw the 2 arms and legs. I remember saying "wow, look how much the baby has grown in a month, no wonder I'm hungry all the time". Our OB was running behind and I knew Ryan had a lot of work to do before we left for Florida, so I said go ahead and go back to work. He was unsure but I assured him things were fine, the ultrasound looked perfect.
The first time I knew things were not good was when the nurse brought me back to the room without taking my weight (the test we were in for requires weight, blood and ultrasound done that day), I'll never forget her saying "the doctor wants to see you first", this is when I started to panic and called Ryan back to the office. The doctor explained the ultrasound revealed abnormalities with the cranium and a high nuchal translucency (this measurement detects chromosome defects) - she was 99% sure the baby had Trisomy 18 (T18). I asked how often she sees this condition, she said she's only seen this 3 or 4 times in her career. I requested a second opinion and left the office in tears. Then continued to cry and did as much research as I could this past weekend.
This feels like the cruelest joke being played on us, first having the fertility MD tell us our chances for getting pregnant were not good due to the quality of our embryos (he had a hunch at the time that something genetic was going on due to our high loss of embryos, we started with 31 and ended with 4) so when I found out we were pregnant it seemed like a miracle. And now, I think how in the world did this baby survive? Most T18 babies or babies with chromosome issues miscarry early and you never know why - I guess there is a reason for this. With my sister having a non-diagnosed developmental disorder and a another distant aunt with the same - the geneticists were baffled why I was never tested. I've always discussed this with the MDs but everyone thought it was a gene mutation and nothing hereditary. Now, I'm pissed that a simple blood test would tell if I'm a carrier. Although, it is rare that I would be a carrier of T18 - but it makes sense to me right now.
Today, we went to see the Perinatologist whom is also a geneticist. She was just wonderful to us, we had another ultrasound. They have the best ultrasound on the market so they really can see quite a bit, I was amazed at how clear things were. She didn't give us the news we wanted to hear, the baby has a halo of fluid around it, which is consistent with a chromosome defect. She performed a CVS (chorionic villa sampling), a sample of the placenta is taken and sent off for genetic testing. It's too early to do a amnio, which looks at the fetal cells specifically (actually, there is a difference in genetic material between the placenta and fetus). The results will be back in 2 days for the 3 most common chromosome defects (13, 18 and 21). A total of 9 chromosomes will be looked at but, those results will not be back for 10 days and 14 days for Ryan and my analysis. I also asked if they saw this condition often, we were told again it's a rare condition and they see only a few cases a year (anyone in CO would be sent to this office).
So you are probably wondering what is Trisomy 18? I was too, I remembered back to when I was pregnant with Lily and thought that would be a terrible diagnosis for a parent to receive. T-18 is the second most common chromosome disorder, right behind Trisomy 21 (Down's Syndrome). Trisomy means three, so trisomy 18 results in 3 chromosomes in the 18th position, a "normal" person has 2 chromosomes at each of the 26 positions. T-18 is a multi-organ disorder, affecting the brain, heart, kidneys, GI tract and esophagus for starters. Most babies do not survive to birth, the babies that do typically live only a few hours to days. 10% of the babies born will live to one year.
I've found so much support at the Trisomy 18 Foundation website. You might want to check it out to better understand the condition: trisomy18.org
Ryan and I just look at Lily and think it's a miracle that she is so perfect. Please continue to respect our privacy during this difficult time. I'll keep you all posted on what's happening here. The best thing you can do for us during this time is to keep us in your prayers.
Subscribe to:
Posts (Atom)
