I don't know too much about her progress as of yet. The ultrasound (10/16/07) was at my normal office and the tech didn't say much, as I guess she probably can't tell me anything anyway. I do know that she is measuring about a week smaller (arms & legs) but her head is right on track. Her hands were closed but I believe that most babies hands are most of the time. Her bladder appeared to have fluid in it, which I think is a good sign as she would have had to swallow amniotic fluid for it to be in her bladder, right? She has a cyst on her brain but (again nothing major, I guess) as about 95% of all babies have cyst(s) on their brains but unless accompanied by other signs of Trisomy 18 they are nothing to worry about as most will dissolve on their own.
I did purchase the fetal heart doppler several weeks ago (same as the ones used in the doctors office) to hear her heart beat whenever I want (which I listen every morning and every night - or any other time of the day that Mya asks to hear it). It is 153 beats per minutes, not too bad for one who is expected to have major heart defects. Hearing her heart beat makes me smile. It makes me realize why I decided to carry her to term. She has not given up on me, therefore I will not give up on her! As long as she continues to fight, I will continue to carry. God chose me to be her Mom and I will do all that I can to be just that!
I have a Level 2 ultrasound scheduled for November 6 as well as a prenatal appt w/ a doctor (in my practice) who had a Trisomy 18 baby himself...might be a little helpful being that he IS an OB/GYN. I will be 19 weeks at that appt (and it is at AGH w/ a high risk Maternal/Fetal Medicine doctor as well as a radiologist), so I am thinking they will be able to tell me more information. I PRAY that they will find absolutely nothing wrong w/ her!!! I PRAY that GOD has healed or will heal her and remove the extra 18th chromosome from every cell of her tiny body! Or that the results were due to a lab error. Maybe, just maybe they were wrong! I try so hard each day to keep my head up and my hopes high and to continue to have the ultimate faith...but it is hard.
Today was a bad day...just super sad I guess. :'(
I try not to cry, but today...I just couldn't help it....
Saturday, October 20, 2007
Wednesday, October 17, 2007
Sunday, October 7, 2007
Devastating Diagnosis
On Friday, September 28th (at 13 weeks and 2 days) we became informed that the baby I am carrying is not only a little girl but also has Edwards Syndrome also known as Trisomy 18.
Edwards Syndrome : Edwards Syndrome (Trisomy 18) is a chromosomal abnormality where there is an extra chromosome present in every cell of the body. This is an example of where "the more the merrier" is not true. This extra chromosome means that every cell has extra information encoded into it. The extra information causes confusion in the way that the cells are formed and results in the potential malformation of all of the body systems. Just like with Down's Syndrome (Trisomy 21), there is a wide range of how this condition will play out (what the doctor's will refer to as your child's phenotype). Unfortunately because there is more information encoded on the 18th chromosome, the severity of this condition is greater than that of Down's Syndrome. Current studies show that while 1:1500 children will be diagnosed prenatally with trisomy 18, only half that number (or 1:3000) will be born alive at full term. Of those who survive to birth, only half will make it to two months of age, and only 10% will survive to their first birthday. Children who live can be an important part of their family and community, but are profoundly developmentally delayed.
+ Associated link: http://trisomy18support.org/modules/wfsection/index.php?category=3...
I am not too good at writing/typing the things I want to say and describing how I feel, so please bare w/ me…
At 12 weeks I had the First Trimester Screening which showed a slight increase of fluid in the back of the baby's neck. The next results came to us via blood work showing a decreased level of HCg as well as an increased level of PaPPA. I was told that could have meant that something was wrong w/ the placenta or w/ the baby's heart. At this time we were faced w/ the risk of 1/140 chances of having a child w/ Down Syndrome. At which I thought the chances were still slim to none but thought it might be best to know now instead of at delivery leaving us no time to learn of such disability before having to take our baby home. Also figuring we would have the next 28 weeks to obtain the knowledge needed to raise our baby if indeed it had Downs.
It took me two days to decide whether or not to have a CVS (Chorionic Villus Sampling) procedure done in fear that it would cause a miscarriage to what could have been a perfectly healthy baby, but at this time the doctors and genetic counselors had me so sick and scared that something was indeed wrong so I vouched to have the test done to prove to all of them that our baby was fine. Boy was I wrong…
I said to myself (and others who felt that I should have waited) on my way to the appointment that I needed to do this for me so I could rest at ease knowing that our baby was healthy and that everything was okay…I wanted so badly to be able to enjoy the rest of the pregnancy opposed to being nervous that something was going to be wrong.
The procedure went well and nothing seemed alarming to me, the ultrasound tech or the doctor performing the procedure (at least they didn't say anything to make me think otherwise). The genetic counselor made me feel better in person than she did on the phone. I felt at ease already and was able to somewhat enjoy the remainder of the day, aside from having slight discomfort from the procedure itself. I was able to have the next day off of work not only to relax but to await for the preliminary results of the test, hoping to be at home when getting the phone call in case it were bad news.
I waited a little over 36 hours to get the preliminary results, thinking this whole time we were going to have a baby w/ Down Syndrome…I now wish more then ever that that was the diagnosis. I received the call at 8:51am (two days later) while on the bus (public transportation) on my way into town to start work. The words coming from the genetic counselors mouth, through my cell phone, I will never forget. "I'm sorry but I don't have good news…your baby has an extra 18th chromosome." I said…"that's Trisomy 18"…..She said "yes, it is…so you know about it"? I had by this time gotten off of the bus as I couldn't bare to break down in front of perfect strangers.
I had only heard of Trisomy 18 (Edward's Syndrome) a few days prior when I was given a paper at the First Trimester Screening appointment describing what they do and what they look for to determine the risks. I knew from what I read that such genetic disorder was considered "incompatible w/ life" and that it occurs in about 1:3000 live births. I also knew that unlike Down syndrome, Trisomy 18 is usually fatal, with most of the babies dying before birth and those who do make it to birth typically living only a few minutes to a few days, not usually more than two months. However, a small number of babies (<10%) live at least one year but even that was so unpredictable. This was certainly not what I had expected, nor what I had planned for. Geez, I wasn't even prepared for such news, especially over the phone.
It has been a week yesterday since I had gotten these results and we have since then chose to carry to term. I know what the future holds and am trying to cope w/ such devastation more and more each day. I have days that I am happy and smiling and others that I am crying and just outright angry…but I think these feelings a normal. I go from patting my belly saying she's going to be just fine...to the thoughts of which funeral homes are we going to call.
We are due March 31, 2008, and can only pray that we will have as much time as possible to get to know our baby girl...
Edwards Syndrome : Edwards Syndrome (Trisomy 18) is a chromosomal abnormality where there is an extra chromosome present in every cell of the body. This is an example of where "the more the merrier" is not true. This extra chromosome means that every cell has extra information encoded into it. The extra information causes confusion in the way that the cells are formed and results in the potential malformation of all of the body systems. Just like with Down's Syndrome (Trisomy 21), there is a wide range of how this condition will play out (what the doctor's will refer to as your child's phenotype). Unfortunately because there is more information encoded on the 18th chromosome, the severity of this condition is greater than that of Down's Syndrome. Current studies show that while 1:1500 children will be diagnosed prenatally with trisomy 18, only half that number (or 1:3000) will be born alive at full term. Of those who survive to birth, only half will make it to two months of age, and only 10% will survive to their first birthday. Children who live can be an important part of their family and community, but are profoundly developmentally delayed.
+ Associated link: http://trisomy18support.org/modules/wfsection/index.php?category=3...
I am not too good at writing/typing the things I want to say and describing how I feel, so please bare w/ me…
At 12 weeks I had the First Trimester Screening which showed a slight increase of fluid in the back of the baby's neck. The next results came to us via blood work showing a decreased level of HCg as well as an increased level of PaPPA. I was told that could have meant that something was wrong w/ the placenta or w/ the baby's heart. At this time we were faced w/ the risk of 1/140 chances of having a child w/ Down Syndrome. At which I thought the chances were still slim to none but thought it might be best to know now instead of at delivery leaving us no time to learn of such disability before having to take our baby home. Also figuring we would have the next 28 weeks to obtain the knowledge needed to raise our baby if indeed it had Downs.
It took me two days to decide whether or not to have a CVS (Chorionic Villus Sampling) procedure done in fear that it would cause a miscarriage to what could have been a perfectly healthy baby, but at this time the doctors and genetic counselors had me so sick and scared that something was indeed wrong so I vouched to have the test done to prove to all of them that our baby was fine. Boy was I wrong…
I said to myself (and others who felt that I should have waited) on my way to the appointment that I needed to do this for me so I could rest at ease knowing that our baby was healthy and that everything was okay…I wanted so badly to be able to enjoy the rest of the pregnancy opposed to being nervous that something was going to be wrong.
The procedure went well and nothing seemed alarming to me, the ultrasound tech or the doctor performing the procedure (at least they didn't say anything to make me think otherwise). The genetic counselor made me feel better in person than she did on the phone. I felt at ease already and was able to somewhat enjoy the remainder of the day, aside from having slight discomfort from the procedure itself. I was able to have the next day off of work not only to relax but to await for the preliminary results of the test, hoping to be at home when getting the phone call in case it were bad news.
I waited a little over 36 hours to get the preliminary results, thinking this whole time we were going to have a baby w/ Down Syndrome…I now wish more then ever that that was the diagnosis. I received the call at 8:51am (two days later) while on the bus (public transportation) on my way into town to start work. The words coming from the genetic counselors mouth, through my cell phone, I will never forget. "I'm sorry but I don't have good news…your baby has an extra 18th chromosome." I said…"that's Trisomy 18"…..She said "yes, it is…so you know about it"? I had by this time gotten off of the bus as I couldn't bare to break down in front of perfect strangers.
I had only heard of Trisomy 18 (Edward's Syndrome) a few days prior when I was given a paper at the First Trimester Screening appointment describing what they do and what they look for to determine the risks. I knew from what I read that such genetic disorder was considered "incompatible w/ life" and that it occurs in about 1:3000 live births. I also knew that unlike Down syndrome, Trisomy 18 is usually fatal, with most of the babies dying before birth and those who do make it to birth typically living only a few minutes to a few days, not usually more than two months. However, a small number of babies (<10%) live at least one year but even that was so unpredictable. This was certainly not what I had expected, nor what I had planned for. Geez, I wasn't even prepared for such news, especially over the phone.
It has been a week yesterday since I had gotten these results and we have since then chose to carry to term. I know what the future holds and am trying to cope w/ such devastation more and more each day. I have days that I am happy and smiling and others that I am crying and just outright angry…but I think these feelings a normal. I go from patting my belly saying she's going to be just fine...to the thoughts of which funeral homes are we going to call.
We are due March 31, 2008, and can only pray that we will have as much time as possible to get to know our baby girl...
Thursday, October 4, 2007
News about our baby
Dear Family and Friends,
We recently found out that our unborn baby girl has been diagnosed with Trisomy 18, also known as Edwards Syndrome. After Down's Syndrome, Trisomy 18 is the second most common chromosomal disorder diagnosed in pregnancy, occurring in 1 in 3000 live births annually.
We are still learning about it ourselves and we wanted to share some information with you so you will understand what we are facing. Trisomy 18 is linked with high rates of stillbirths and early infant deaths, so you will understand we are very worried for our baby.Please visit the links below to learn more about how you can support us through this process.
Sincerely,Chrissy and Vinnie
A note from Chrissy - At this time I am placing the current situation into God's hands. He has created this baby girl and He has allowed her heart to beat. It is not my place to be the reason for her heart to stop. Therefore, we have decided to carry our baby girl to term. God has brought us to it and I truly believe that He will see us through it. I have faith that He has a plan and that He has the power to heal our daughter.
I just ask that you keep our family in your every thought and every prayer. I also ask that you please be patient and not call me to discuss anything further. When and if I want to talk about it I will come to you. Please feel free to email me if you'd like. Thank you for your support and your understanding!
Love, Chrissy
Edwards Syndrome : Edwards Syndrome (Trisomy 18) is a chromosomal abnormality where there is an extra chromosome present in every cell of the body. This is an example of where "the more the merrier" is not true. This extra chromosome means that every cell has extra information encoded into it. The extra information causes confusion in the way that the cells are formed and results in the potential malformation of all of the body systems. Just like with Down's Syndrome (Trisomy 21), there is a wide range of how this condition will play out (what the doctor's will refer to as your child's phenotype). Unfortunately because there is more information encoded on the 18th chromosome, the severity of this condition is greater than that of Down's Syndrome. Current studies show that while 1:1500 children will be diagnosed prenatally with trisomy 18, only half that number (or 1:3000) will be born alive at full term. Of those who survive to birth, only half will make it to two months of age, and only 10% will survive to their first birthday. Children who live can be an important part of their family and community, but are profoundly developmentally delayed.
+ Associated link: http://trisomy18support.org/modules/wfsection/index.php?category=3
These links may be useful in helping you understand Trisomy 18.
What is Trisomy 18?
http://www.trisomy18.org/whatist18
How Trisomy 18 is Diagnosed
http://www.trisomy18.org/diagnosis
For Family and Friends: how to support the parents
http://www.trisomy18.org/friends
Currently reading :
Trisomy 18: A Guidebook for Families
By Carol M. Stenson Release date: January, 1999
We recently found out that our unborn baby girl has been diagnosed with Trisomy 18, also known as Edwards Syndrome. After Down's Syndrome, Trisomy 18 is the second most common chromosomal disorder diagnosed in pregnancy, occurring in 1 in 3000 live births annually.
We are still learning about it ourselves and we wanted to share some information with you so you will understand what we are facing. Trisomy 18 is linked with high rates of stillbirths and early infant deaths, so you will understand we are very worried for our baby.Please visit the links below to learn more about how you can support us through this process.
Sincerely,Chrissy and Vinnie
A note from Chrissy - At this time I am placing the current situation into God's hands. He has created this baby girl and He has allowed her heart to beat. It is not my place to be the reason for her heart to stop. Therefore, we have decided to carry our baby girl to term. God has brought us to it and I truly believe that He will see us through it. I have faith that He has a plan and that He has the power to heal our daughter.
I just ask that you keep our family in your every thought and every prayer. I also ask that you please be patient and not call me to discuss anything further. When and if I want to talk about it I will come to you. Please feel free to email me if you'd like. Thank you for your support and your understanding!
Love, Chrissy
Edwards Syndrome : Edwards Syndrome (Trisomy 18) is a chromosomal abnormality where there is an extra chromosome present in every cell of the body. This is an example of where "the more the merrier" is not true. This extra chromosome means that every cell has extra information encoded into it. The extra information causes confusion in the way that the cells are formed and results in the potential malformation of all of the body systems. Just like with Down's Syndrome (Trisomy 21), there is a wide range of how this condition will play out (what the doctor's will refer to as your child's phenotype). Unfortunately because there is more information encoded on the 18th chromosome, the severity of this condition is greater than that of Down's Syndrome. Current studies show that while 1:1500 children will be diagnosed prenatally with trisomy 18, only half that number (or 1:3000) will be born alive at full term. Of those who survive to birth, only half will make it to two months of age, and only 10% will survive to their first birthday. Children who live can be an important part of their family and community, but are profoundly developmentally delayed.
+ Associated link: http://trisomy18support.org/modules/wfsection/index.php?category=3
These links may be useful in helping you understand Trisomy 18.
What is Trisomy 18?
http://www.trisomy18.org/whatist18
How Trisomy 18 is Diagnosed
http://www.trisomy18.org/diagnosis
For Family and Friends: how to support the parents
http://www.trisomy18.org/friends
Currently reading :
Trisomy 18: A Guidebook for Families
By Carol M. Stenson Release date: January, 1999
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