Wednesday, November 18, 2009
36 Week Appointment
Well, today I went for my 36 week appointment. Blood Pressure was great (114/68), no weight gain since last week, iron levels good, and no protein, sugar, or bacteria found in urine. Today they checked me for Group B strep and checked for dialation and effacement to see if I am showing signs of a favorable 38 week induction. But my little guy likes hanging out. I am barely a fingertip dialated and no thinning of the cervix yet. So 39 weeks is looking like the more favorable option. Please continue to keep my little man in your prayers as he continues to grow. I am getting more and more anxious for his arrival.
Wednesday, November 11, 2009
35 Week Dr Appts
Well, today was supposed to be a day off from school, but instead, it was filled with appts. I had a hair appt @ 9am and that lasted until 12..met Jamie to eat lunch and then my 1st dr appt was with the diabetes center @ 2pm. My fasting numbers have been running high, but we think it is because I don't check them as soon as I wake up. So I guess the next week will be a test..I love going to these appts because they tell me that having ice cream as my bed time snack is good for me to have. It is the best thing to hear. I finished up here at 2:40 and my next appt was @ 2:45 with the High Risk Women's Institute for an ultrasound/growth scan. This place is literally in the same office as my diabetic center but the funny thing is I have to go back to the same front desk people and sign in AGAIN and sign the exact same payment agreement that I signed when I came for the diabetic appt. But I love going here b/c the staff and doctors are just wonderful! They know you by name, they take care of everything for you and are just genuinely caring people.
So we went in for the ultrasound and the tech begins her measurements. Junior(nickname for the baby) has definitely grown in the past 3 weeks and he now weighs an estimated 6lbs. His head measures at 37 wks(quite a noggin)but his femur bones only measure 32 weeks..That is 5 weeks behind, but they have grown since the last time. Of course I really want to see his little legs grow and catch up, but the Dr. reminded me that as he gets bigger the measurements become less accurate. I also had them look for some of the anomalies that are associated with Cat Eye Syndrome like kidneys, ears, stomach and bowels, and anal atresia. Now most of these anomalies cannot be detected by ultrasound, but sometimes they can see problems. As always, we tried to get good 3d pics of his face, but he either turns at an odd angle or puts his hands in front of his face. But the dr said he has 2 kidneys, stomach appears normal, and she tried to see abnormalites like anal atresia, but that is rarely seen but she said she didn't see anything abnormal. He did like showing his feet and toes..so precious! The dr was also able to get a picture of one ear..as far as to its location, that couldn't be determined because he wouldn't keep his head turned right. The other side of his head is lodged against my pelvis so we couldn't see an ear on that side. His heartrate runs a little on the low side (114) but it usually picks back up to 125. Overall, things look good and another appt was scheduled for Dec 9th although the dr says she doesn't expect to see me because I will have him by then. YIKES! The Genetic Counselor also came in and gave me a copy of the genetics lab report and I read and we discussed all the genetic lingo. Not only does his fragment chromosome have a piece of Chromosome 22 which causes Cat Eye Syndrome, but it also has a piece of Chromosome 7 which they have no literature to tell them what it might cause. So I leave this appt @ 4:00 and off I head to the 4th floor for my OBGYN appt @4:15.
At this appt I learned that the plan is to induce at 39wks but a more specific date will be determined as they get closer. I was told that if my cervix is favorable, I might possibly be induced as early as 38 wks. YIKES! I asked him if the heartrate being low made me more at risk for a c-section and he said that is a baby boy for ya. He said he was not concerned at all about his heart rate. That made me feel much better. He then said I will start coming weekly now and that they will check my cervix next week..UGH! So overall, everything good here too. Now it is back to school to try and finalize everything..UGH! **GROAN** **SIGH** Stay Tuned..more updates to come and Keep Praying for this little guy b/c it isn't long before he makes his grand entrance. :)
So we went in for the ultrasound and the tech begins her measurements. Junior(nickname for the baby) has definitely grown in the past 3 weeks and he now weighs an estimated 6lbs. His head measures at 37 wks(quite a noggin)but his femur bones only measure 32 weeks..That is 5 weeks behind, but they have grown since the last time. Of course I really want to see his little legs grow and catch up, but the Dr. reminded me that as he gets bigger the measurements become less accurate. I also had them look for some of the anomalies that are associated with Cat Eye Syndrome like kidneys, ears, stomach and bowels, and anal atresia. Now most of these anomalies cannot be detected by ultrasound, but sometimes they can see problems. As always, we tried to get good 3d pics of his face, but he either turns at an odd angle or puts his hands in front of his face. But the dr said he has 2 kidneys, stomach appears normal, and she tried to see abnormalites like anal atresia, but that is rarely seen but she said she didn't see anything abnormal. He did like showing his feet and toes..so precious! The dr was also able to get a picture of one ear..as far as to its location, that couldn't be determined because he wouldn't keep his head turned right. The other side of his head is lodged against my pelvis so we couldn't see an ear on that side. His heartrate runs a little on the low side (114) but it usually picks back up to 125. Overall, things look good and another appt was scheduled for Dec 9th although the dr says she doesn't expect to see me because I will have him by then. YIKES! The Genetic Counselor also came in and gave me a copy of the genetics lab report and I read and we discussed all the genetic lingo. Not only does his fragment chromosome have a piece of Chromosome 22 which causes Cat Eye Syndrome, but it also has a piece of Chromosome 7 which they have no literature to tell them what it might cause. So I leave this appt @ 4:00 and off I head to the 4th floor for my OBGYN appt @4:15.
At this appt I learned that the plan is to induce at 39wks but a more specific date will be determined as they get closer. I was told that if my cervix is favorable, I might possibly be induced as early as 38 wks. YIKES! I asked him if the heartrate being low made me more at risk for a c-section and he said that is a baby boy for ya. He said he was not concerned at all about his heart rate. That made me feel much better. He then said I will start coming weekly now and that they will check my cervix next week..UGH! So overall, everything good here too. Now it is back to school to try and finalize everything..UGH! **GROAN** **SIGH** Stay Tuned..more updates to come and Keep Praying for this little guy b/c it isn't long before he makes his grand entrance. :)
Sunday, November 8, 2009
Other articles on Cat Eye Syndrome
This article provides good information on the variable characteristics that can occur with Cat Eye Syndrome. This information is located in the latter part of the article.
Link to article
Mom- The link below is a case study on a boy with CES and it takes a look at the difference between CES patients with partial trisomy 22 and tetrasomy 22. It says that studies that describe the characteristics of CES should indicate which category of CES it is to help in providing phenotypes of each type.
Case Study
The article below is the only one that I have seen that has provided color pictures of a child with CES.
Pics of CES
Monica's Story
Taylor's Story
Link to article
Mom- The link below is a case study on a boy with CES and it takes a look at the difference between CES patients with partial trisomy 22 and tetrasomy 22. It says that studies that describe the characteristics of CES should indicate which category of CES it is to help in providing phenotypes of each type.
Case Study
The article below is the only one that I have seen that has provided color pictures of a child with CES.
Pics of CES
Monica's Story
Taylor's Story
Thursday, November 5, 2009
Like a Solid Rock
Well, for today I figured I would spend time on those people who have been my rock throughout this journey.
My husband- God bless him for being such a loving husband. I have always said he is my number one fan and cheerleader, and he makes sure that I am taken care of as well as our family. With all that being said, he has rode along on this roller coaster ride sitting right by my side, holding my hand the whole way. When I wasn't sure if I would ever see the light at the end of the tunnel, he was there to reassure me that it would come. When I doubted everyone, when I stumbled in my faith, and when I was sure I could not go on, he challenged me and said, "Do you not believe that our God is more powerful than man? Do you not believe that God has a purpose for everything?" Oh how it was not what I wanted to hear, but it is what he and I both know is the truth. Our God is an awesome God. But,with his firmness, he also embraced me and let me know that he loved me know matter what. He gave me a shoulder to cry on, and ear to listen, and heart that was filled with unconditional love. What more could I ask for? I only hope and pray, that I can do the same in return for him. Oh how I love him, and may God lift him up for all that he has done for me.
My mother-I cannot put into words the connection that my mother and I have. It is one like no other, and if I had to name the many roles she has played in my life:my counselor, advisor, and friend, I would say these are only on the short list. Since I can remember, she has been able to read me like a book. There were times in which I wish she couldn't, but in the end was only to my benefit. Yet through it all, she is my inspiration. She is the one true person who "gets me." We can finish each other's sentences and thoughts, and we can laugh and make the other cry. But whatever it may be, we have endured it together, the thick and the thin. I love her for her ability to "jerk a not in my tail," and for her ability to "provide words of wisdom." On either end of the spectrum, she has always been able to help me maintain stability and faith in my life. I can't imagine my life without her, and her endless love and support for both my family and I are endless. She has provided for us in more ways than just those that are tangible. She has taught me so many things such as how to be strong, how to live according to God's word, and most of all the beauty and warmth of a mother's love. I love her with all my heart and soul, and I pray that she will realize the depths in which she has touched my life. Not a day goes by that I don't thank God for having her in my life.
My daughter- Only five years old, but has the mind and soul of a young lady. Since the day we told her I was pregnant, she has shown nothing but love for her brother. She kisses my belly, talks to him through my belly, and gives her brother hugs. Her innoncence revealed to me what society and science had jaded in my mind. She knew mommy would cry "because the baby had a hurt heart" so she asked her Sunday school class to pray for her brother. She knows that her brother might have some problems when he is born, but it hasn't stopped her from loving, kissing, and hugging him every night. It hasn't stopped her from practicing her reading and writing so she can teach him how to do the same things. She showed me the power and beauty of unconditional love. When I look at her, I realize the blessing she is to me, and I thank God for her.
My friends at work- There are many, but they all have been invaluable. Some of have carted me into their rooms to hear me cry my tears of sadness even when they themselves did not understand everything that was going on. There is one who has practically kept me afloat in my job and done so with no complaints and only offers to do more. There are those who tried to understand and offer their words of love, support, and sometimes just a hug. There are some who have prayed relentlessly for me and this baby, and I cannot tell them how much I appreciate it all. Regardless of their role, they have been there for me. I love them all and hope I can some day return the favor.
My best friend- Oh man I cannot thank her enough. The countless prayers, the book on Fear she mailed to me, and the words of love, faith, and strength that she has given me have only made me admire her more. She too is my rock, and I love her for everything she has done for me.
The others- It's funny, but I can't think of a word that can group together the countless others in my life who have and still do pray, send me cards, emails, and words of encouragement. The Peru Mission team who prayed for me and this baby even while spreading the word of God, the friends and coworkers of my family that have offered to pray for me or to cover for them so that they can be there for me. The countless church members who have expressed their kind words and added me to their prayers, and I am sure that there are some who I don't even know, but they are praying too. It is overwhelming, but it allows to me feel the presence of God in the midst of it all.
I cannot express enough my gratitude to everyone. I am truly blessed to have you all as a part of my life, and this baby boy, I know, can be rest assured that his life is one that has brought many people to their knees in prayer, and many hands lifted up in praise to God. Nothing short of a miracle.
Thank you and God Bless You!
My husband- God bless him for being such a loving husband. I have always said he is my number one fan and cheerleader, and he makes sure that I am taken care of as well as our family. With all that being said, he has rode along on this roller coaster ride sitting right by my side, holding my hand the whole way. When I wasn't sure if I would ever see the light at the end of the tunnel, he was there to reassure me that it would come. When I doubted everyone, when I stumbled in my faith, and when I was sure I could not go on, he challenged me and said, "Do you not believe that our God is more powerful than man? Do you not believe that God has a purpose for everything?" Oh how it was not what I wanted to hear, but it is what he and I both know is the truth. Our God is an awesome God. But,with his firmness, he also embraced me and let me know that he loved me know matter what. He gave me a shoulder to cry on, and ear to listen, and heart that was filled with unconditional love. What more could I ask for? I only hope and pray, that I can do the same in return for him. Oh how I love him, and may God lift him up for all that he has done for me.
My mother-I cannot put into words the connection that my mother and I have. It is one like no other, and if I had to name the many roles she has played in my life:my counselor, advisor, and friend, I would say these are only on the short list. Since I can remember, she has been able to read me like a book. There were times in which I wish she couldn't, but in the end was only to my benefit. Yet through it all, she is my inspiration. She is the one true person who "gets me." We can finish each other's sentences and thoughts, and we can laugh and make the other cry. But whatever it may be, we have endured it together, the thick and the thin. I love her for her ability to "jerk a not in my tail," and for her ability to "provide words of wisdom." On either end of the spectrum, she has always been able to help me maintain stability and faith in my life. I can't imagine my life without her, and her endless love and support for both my family and I are endless. She has provided for us in more ways than just those that are tangible. She has taught me so many things such as how to be strong, how to live according to God's word, and most of all the beauty and warmth of a mother's love. I love her with all my heart and soul, and I pray that she will realize the depths in which she has touched my life. Not a day goes by that I don't thank God for having her in my life.
My daughter- Only five years old, but has the mind and soul of a young lady. Since the day we told her I was pregnant, she has shown nothing but love for her brother. She kisses my belly, talks to him through my belly, and gives her brother hugs. Her innoncence revealed to me what society and science had jaded in my mind. She knew mommy would cry "because the baby had a hurt heart" so she asked her Sunday school class to pray for her brother. She knows that her brother might have some problems when he is born, but it hasn't stopped her from loving, kissing, and hugging him every night. It hasn't stopped her from practicing her reading and writing so she can teach him how to do the same things. She showed me the power and beauty of unconditional love. When I look at her, I realize the blessing she is to me, and I thank God for her.
My friends at work- There are many, but they all have been invaluable. Some of have carted me into their rooms to hear me cry my tears of sadness even when they themselves did not understand everything that was going on. There is one who has practically kept me afloat in my job and done so with no complaints and only offers to do more. There are those who tried to understand and offer their words of love, support, and sometimes just a hug. There are some who have prayed relentlessly for me and this baby, and I cannot tell them how much I appreciate it all. Regardless of their role, they have been there for me. I love them all and hope I can some day return the favor.
My best friend- Oh man I cannot thank her enough. The countless prayers, the book on Fear she mailed to me, and the words of love, faith, and strength that she has given me have only made me admire her more. She too is my rock, and I love her for everything she has done for me.
The others- It's funny, but I can't think of a word that can group together the countless others in my life who have and still do pray, send me cards, emails, and words of encouragement. The Peru Mission team who prayed for me and this baby even while spreading the word of God, the friends and coworkers of my family that have offered to pray for me or to cover for them so that they can be there for me. The countless church members who have expressed their kind words and added me to their prayers, and I am sure that there are some who I don't even know, but they are praying too. It is overwhelming, but it allows to me feel the presence of God in the midst of it all.
I cannot express enough my gratitude to everyone. I am truly blessed to have you all as a part of my life, and this baby boy, I know, can be rest assured that his life is one that has brought many people to their knees in prayer, and many hands lifted up in praise to God. Nothing short of a miracle.
Thank you and God Bless You!
Wednesday, November 4, 2009
Information on Cat Eye Syndrome
I have found an article that I feel gives the best information about cat eye syndrome also known as tetrasomy 22pter--q11. (And yes I know the meanings of all the numbers and letters in that name, but will save that for a later post.) I am posting a link for this site in case you would like to view it. Cat Eye Syndrome is so rare that much of the information available through the internet is sparse or gives conflicting information. But then again, the symptoms vary in all patients, so finding exact answers before the baby is born is almost impossible. Very little of the anomalies can be accurately diagnosed by ultrasound.But for those of you interested here it is..
Cat Eye Syndrome
Cat Eye Syndrome
Tuesday, November 3, 2009
God's Little Miracle
I mentioned in my first post that this journey in discovering my unborn baby has Cat Eye Syndrome has been one totally ordained by God. I truly believe this and I thought i would take the time to share what has been revealed thus far..Some might say that these are results of circumstance, but there are just too many for that claim.
1.We spent 18 months trying to having a baby, with 5 of those being monitored multiple times a week to make sure timing was perfect and none were successful.
**The first cycle I stopped all the meds, I became pregnant.
2. My initial ultrasound showed no heartbeat,
**But a follow up appointment only 4 days later showed the tiniest flicker of the heart of my little bean.
3. My first ob appointment was with a new doctor who I quickly realized was exactly what I needed to maintain a healthy pregnancy. My blood pressure on that first visit was 140/90 and I was only twelve weeks. My future prognosis was looking bleak.
**My follow up visit showed a much lower blood pressure and it has remained at a level that is better than I have when I am not pregnant. Thank God!
4. At sixteen weeks, my daughter contracted 5th's disease, a common childhood virus, but one that can be harmful to an unborn baby.
**Tests revealed that I was already immune to it and neither I nor the baby were at risk.
5. At 18 weeks, I went in for an ultrasound and a standard technician noticed a shortened femur bone and possibly rotated heart. A follow up ultrasound with a high risk doctor was recommended, but I was told I would have to wait because the office was closed.
**I received a phone call the following morning from a lady at my drs office who offered to schedule me an appointment at a different location. I was so relieved and thankful because I was sure I would have to call and remind them to schedule the appointment. I found out several weeks later that the lady who called me recognized my name and remembered I had coached her daughter. She later told me she wanted to help in any way she could so she called to see what other offices were available so I could be seen sooner. Truly an angel of God!
6. I went for my follow up ultrasound with a highly trained techinician and high risk doctor and they revealed that the femur was actually in normal range and heart looked normal. But further testing was scheduled just to be sure and reassure me
**This testing eventually led to the diagnosis of a congenital heart defect known as TAPVR and of my baby's condition of Cat Eye Syndrome which are rarely diagnosed prenataly.
7. At 26 weeks I found out I had gestational diabetes. I was terrified of what this might mean for my health and busy life.
**Despite my high test numbers on diagnosis, I have been able to maintain control through diet alone. I have yet at 34 weeks to gain any weight during this pregnancy, but baby is growing just fine.
8. Being a patient at a high risk facility put me in contact with a genetic counselor who has truly been an angel.
**From the beginning, she has offered me her office and cell phone number to call at anytime if I had questions or concerns. She even answered my call on a weekend. God bless her because I was a basket case. She has kept me frequently updated on every step of the process of testing and has informed me of every conversation that she has had with the geneticists locally and those in Washington State. And despite all the overwhelming news she has had to deliver to me, she has always remained optimistic and went out of her way to give me every possible scenario.
9. This pregnancy fell at time that was just perfect for what I was about to go through.
**Being a head volleyball coach and something I love to do, my season began at about the same time I was finding out all of this information. It gave me the motivation to get up and get going, and it provided an outlet where I could not dwell in my own self pity. It surrounded me with people who were supportive, and helped me see the light at the end of the tunnel.
10. Most of all, this journey is not over, but I have been provided with an overwhelming peace, and I know that God has not revealed to the world his purpose for this baby. But I know there is one. All of these circumstances have educated me in ways I would have never known.
**I now realize the true miracle it is to even conceive a child.
**I have seen the miracle it is to give birth to a healthy child.
**I have learned that genetics are complicated, but yet every single fiber of our dna is so vital to our existence. Only a mighty and superior God could have ordained such a thing.
**I have learned that being in control is not the most important thing, and I am still trying to fully relinquish my grip on this.
**And I know that this journey has only just begun.
1.We spent 18 months trying to having a baby, with 5 of those being monitored multiple times a week to make sure timing was perfect and none were successful.
**The first cycle I stopped all the meds, I became pregnant.
2. My initial ultrasound showed no heartbeat,
**But a follow up appointment only 4 days later showed the tiniest flicker of the heart of my little bean.
3. My first ob appointment was with a new doctor who I quickly realized was exactly what I needed to maintain a healthy pregnancy. My blood pressure on that first visit was 140/90 and I was only twelve weeks. My future prognosis was looking bleak.
**My follow up visit showed a much lower blood pressure and it has remained at a level that is better than I have when I am not pregnant. Thank God!
4. At sixteen weeks, my daughter contracted 5th's disease, a common childhood virus, but one that can be harmful to an unborn baby.
**Tests revealed that I was already immune to it and neither I nor the baby were at risk.
5. At 18 weeks, I went in for an ultrasound and a standard technician noticed a shortened femur bone and possibly rotated heart. A follow up ultrasound with a high risk doctor was recommended, but I was told I would have to wait because the office was closed.
**I received a phone call the following morning from a lady at my drs office who offered to schedule me an appointment at a different location. I was so relieved and thankful because I was sure I would have to call and remind them to schedule the appointment. I found out several weeks later that the lady who called me recognized my name and remembered I had coached her daughter. She later told me she wanted to help in any way she could so she called to see what other offices were available so I could be seen sooner. Truly an angel of God!
6. I went for my follow up ultrasound with a highly trained techinician and high risk doctor and they revealed that the femur was actually in normal range and heart looked normal. But further testing was scheduled just to be sure and reassure me
**This testing eventually led to the diagnosis of a congenital heart defect known as TAPVR and of my baby's condition of Cat Eye Syndrome which are rarely diagnosed prenataly.
7. At 26 weeks I found out I had gestational diabetes. I was terrified of what this might mean for my health and busy life.
**Despite my high test numbers on diagnosis, I have been able to maintain control through diet alone. I have yet at 34 weeks to gain any weight during this pregnancy, but baby is growing just fine.
8. Being a patient at a high risk facility put me in contact with a genetic counselor who has truly been an angel.
**From the beginning, she has offered me her office and cell phone number to call at anytime if I had questions or concerns. She even answered my call on a weekend. God bless her because I was a basket case. She has kept me frequently updated on every step of the process of testing and has informed me of every conversation that she has had with the geneticists locally and those in Washington State. And despite all the overwhelming news she has had to deliver to me, she has always remained optimistic and went out of her way to give me every possible scenario.
9. This pregnancy fell at time that was just perfect for what I was about to go through.
**Being a head volleyball coach and something I love to do, my season began at about the same time I was finding out all of this information. It gave me the motivation to get up and get going, and it provided an outlet where I could not dwell in my own self pity. It surrounded me with people who were supportive, and helped me see the light at the end of the tunnel.
10. Most of all, this journey is not over, but I have been provided with an overwhelming peace, and I know that God has not revealed to the world his purpose for this baby. But I know there is one. All of these circumstances have educated me in ways I would have never known.
**I now realize the true miracle it is to even conceive a child.
**I have seen the miracle it is to give birth to a healthy child.
**I have learned that genetics are complicated, but yet every single fiber of our dna is so vital to our existence. Only a mighty and superior God could have ordained such a thing.
**I have learned that being in control is not the most important thing, and I am still trying to fully relinquish my grip on this.
**And I know that this journey has only just begun.
Monday, November 2, 2009
Where Do I Begin?
It's really amazing to reflect back on the circumstances that have led us to the point we are at today. Yet, as wild as it has been, I can only describe this journey as one completely ordained by God. So with that being said, here is how it all began.
In October of 2008, my husband and I began to see a fertility specialist to help us determine the reason for my long and sometimes absent cycles. I was quickly diagnosed as having polycystic ovaries and was put on fertility drugs to help regulate ovulation. I went through 3 cycles of this drug and all were successful in ovulation, but none succeeded in producing a pregnancy. At this point, I was beginning to think that my dream of having a second child was ending quickly. I could not afford to do IVF, and the medication route was proving to be a dead end. After the 3rd failed cycle, the doctor switched me to a different fertility drug to see if I would respond better. Again..this only led to successful ovulation but no pregnancy. The reality of never having a second child was really starting to take a grip, and the emptyness I felt was really beginning to eat away at me. After meeting with the doctor, it was decided that I should have some further testing done to determine if I had blocked ovaries which may prevent fertilization. I was to call and have it scheduled with the upcoming cycle. Well, I called, but somehow the paper work never made it through in time to have the testing done during that cycle so I was going to have to wait until the next cycle. This was in March of 2009.
April 6th, 2009- Although I was not currently on fertility drugs, I was still keeping track of my cycles. So on April 6th of 2009 I was officially late for my cycle and decided to take a test just to see. And tada..I was pregnant. I was so excited and couldn't wait to tell my husband. I completely felt that this was a miracle of God. We had been trying to conceive for 18 months and it finally happened. I called the fertility clinic who then immediately brought me in for blood work. Having conceived one child already, this was an entirely new process for me. I was told that my initial bloodwork showed positive results for pregnancy, but I would need to return in 2 days to have it tested again to see if the numbers were rising..Again, this was all new for me. What happened to the good ole days where if your test showed positive, that was it?
So two days later, I returned and my results showed that my HCG levels were rising so now a viability scan was scheduled. I was told that in order for this pregnancy to be considered viable, a heartbeat had to be found.
April 13, 2009- I show up for my ultrasound with much prayer and hope that a heartbeat would be found, but with a nervous energy that I would leave with shattered dreams. As the doctor is doing the scan, I hold my breath waiting to hear the answer. As my gut instinct told me, he said, "I see a sac, but I can't find a heartbeat." He did say that it could be too early and that I needed to come back in a week and have another scan to see for sure. If there was still no heartbeat, then I would have a reason to be concerned. So I was rescheduled for another ultrasound.
April 17,2009- I return to face the machine again. This time, I am even more hopeful that a heartbeat will be found. And as my instinct told me, the doctor said "Here's the heartbeat." I was so relieved. But then he said, "It looks like there is another sac in there." He scrutinizes the screen and takes pictures, but he said he just couldn't say for sure so he wanted to see me in another week to take another peek. So I left the office with an entirely new set of worries, is there one or two?
April 24, 2009- I again return for the second look. The doctor immediately finds the heartbeat again, but it is at the same rate it was the week before. I mention this to him knowing that the heartrate should be increasing, but he says not to worry. Yet he still thinks there is a second sac but that it looks empty. He decides he wants me to go for a second opinion at about 8 weeks because it should be very clear if there is one or two at this point. So I am scheduled to have another ultrasound.
May 9th, 2009- I show up at the hospital to have another ultrasound to confirm if there is one or two babies in there. If you have had any experience with an ultrasound tech, they are not allowed to tell you anything so I did my best to pry answers out of her. She said she did not see a second baby, but that the one she could see had a good heartrate. So I left knowing that I had one viable pregnancy and could begin the exciting journey of preparing for this little one. I was then released to go to my regualr obgyn.
I decided at this point to go with a different obgyn since I was not pleased with my previous clinic. After contacting the new facility and finally getting scheduled for an appointment, I was almost 12 weeks pregnant.
I met with my new doctor, went over all my confusing reports from the fertility clinic, and discussed my prenatal plan. Being only 29, I was not considered high risk, but I was offered the option to have a NST scan done at 12 weeks. I had been on many pregnancy forums and was told that you got to have an ultrasound with an NST, so I couldn't resist the urge to take another peek at my little bean. I opted to have it done.
June 2009- Around the 1st week of June, I was scheduled to have my NST scan done at hospital in Charlotte, NC. When I was taken back to the room, I was so glad I ended up there because the facility was great. After reading the paper work and having the procedure explained, I suddenly became very nervous. They would be measuring the neck fold of the baby as well as some other parts of the baby to assess my risk for having a child with Down Syndrome, Trisomy 13, or Trisomy 18. I was quickly thrown into the reality of what this test might reveal, and my desire to have another peek at my little bean seemed not so important anymore. As I lay there, the ultrasound tech took all her measurements and said everything looked great. I was relieved and left with some great photos of my little peanut. I was happy. A few weeks later, my results were mailed to me showing normal findings with the NST.
July 2009- I continued the standard prenatal care and was anxiously awaiting the next ultrasound to be done at my obgyn so I could find out the gender. It was scheduled and my husband and I planned to take our 5 year old daughter so she could see the baby.
July 16, 2009- Off we went to the doctor with only hopes and dreams of what color the nursery would be and what names would we like the most. As I lay on the table for the ultrasound, I watched the ultrasound tech maneuver around and take many measurements. She was not talking very much, and I noticed that she kept taking repeat measurements of several parts of the baby. Now it had been 5 years since my last experience with ultrasound, but I quickly began to think that she was not being silent just because she was non social. She also knew we were waiting to hear the gender and my daughter was getting ancy to leave. She continued to take many measurements and my instinct was telling me that she was seeing something but I just couldn't figure out what it was. She finally did a quick scan of the baby's bottom, revealed it was a boy, and quickly got up and said, "I'll bring you pictures back in a minute." I knew then that something was not right. THe tech returned and gave me a few pictures and said to have a seat outside the doctor's office. My husband and daughter left to go back to the waiting room. The tech then went into the doctor's office and shut the door. I definitely knew then, that what was being said behind that door was not how beautiful my baby was, or that everything looked great. A few minutes later the doctor called me in and asked the nurse to bring my husband to the office too. My stomach turned and I could feel my adrenaline rushing. And so it began..
"This is not the news I was expecting to give to you today."
"The baby's heart looks rotated."
"The baby's femur bone is measuring behind."
"You have 2 markers for Down Syndrome."
"One good thing is your NST scan shows a low risk."
"You will need to go for another ultrasound at a high risk facility."
" There are many things that can cause these results."
Oh the flurry of thoughts, the rush of adrenaline, the sudden feeling of doom..I couldn't handle it and I broke into sobs. I wanted to know now exactly what the problem was. I needed answers, but I was told that the office would be closed until the following Monday. I honestly thought I couldn't wait that long. So my family and I left that office in total shock and devastation and I left my dreams of having a healthy baby laying on the ultrasound table.
At home, I couldn't eat, sleep, or do anything but cry. I needed answers and all this unknown was ripping me apart. On Friday morning, I received a phone call from the doctors office. The lady said she knew that the Level 2 ultrasound office was closed until Monday but that she could try and schedule me with the clinic in Charlotte that I went to for the NST scan. I jumped at the chance and thought to myself..only God can open doors like this..he knows my heart. She quickly called me back and said I was scheduled for Monday afternoon. I cannot express to you what that weekend was like..Some moments I was a complete basket case, other moments I was a zombie, and sometimes I was so overwhelmed I just couldn't think straight. Of course I also spent considerable time researching the internet trying to find the answers myself. None of which brought any sense of peace or calm to my life. So on Monday, we go in for the level 2 ultrasound. After having the ultrasound done, the doctor explains that she doesn't really see anything significant that would be cause for concern. I asked about the heart and she said, "well he is not giving me text book pictures, but I really don't think there is anything to be concerned about. I will schedule you for a fetal echocardiogram just to rule out all possibilities." I asked about the femur bones and she said "Well it measures about a week behind, but unless we find other markers, I don't consider the femur bone an accurate tool for diagnosis." I then asked about an amnio..At this point the genetic counselor came in and explained that I had no medical reason to have one done so I would probably have to pay out of pocket. She then explained that my NST risk assessment and ultrasound results gave me a .033% chance of having a baby with downs, trisomy 13, or trisomy 18 and that an amniocentesis carries a .367% chance of a miscarriage. She also reassured me that there was nothing that indicated to them that there were problems and reminded me that I was in a facility that looked at nothing but high risk patients. So I was relieved for the most part. I opted to not go through with the amnio and my fetal echocardiogram was scheduled for a few weeks later. I praised God that all was well.
August 2009- I return to Charlotte to meet with the fetal echocardiologist. He does an ultrasound of the baby again, and quickly turns to me and says "I think they are right in that your baby has a heart defect, but it is one that can easily be fixed. Let's talk about it in my office." So down the emotional roller coaster I go again. We are then informed that what he suspects my baby has is a rare heart condition called TAPVR or Total Anomalous Pulmonary Venous Return. He says it is fixed in one open heart surgery procedure and he suspects that my babies procedure would not need to be performed immediately. He did tell me that I would now have to deliver at that hospital which meant switching obgyn's again, but he made everything seem so simple and not a big deal that I was really not concerned. I left the hospital with a pretty good feeling.
But then I got home..I sat down and remembered the doctor telling me that if the baby had a heart defect, his risk of having chromosomal abnormalities would increase. I immediately was devastated. I just felt that this was inevitable. Over the next few days, I spoke with the genetic counselor and cardiologist and discussed my concerns. Both assured me that this was not a defect found in babies with downs, trisomy 13, trisomy 18. But I wanted confirmation, I just knew I needed to know for sure. The genetic counselor informed me that since there was now a heart defect, I could have an amnio done but it needed to be done quickly since I was getting closer to the time in which doctors did not do them. The discussion with my husband proved to be much more difficult than I thought. He is a numbers man and I am a realist. Statistically, he just couldn't justify taking a risk of miscarriage when my risk of a baby with chromosomal abnormalities was so low. I completely understood, but my point was that IF there was something wrong, I needed time to mentally prepare myself for the journey. I just didn' t think I could handle having another stick thrown into the fire when the baby was born. I felt having an amnio was important for my mental sanity. I completely respected my husband's viewpoint, but I was so anxious inside that I just couldn't let it go. We met with the genetic counselor again and discussed the options, weighed the risks, and heard each other's side. We were at a standstill, but finally agreed to go through with it. The procedure went well and I had a busy weekend and upcoming week to help pass the time for the upcoming results.
THe following week, I received the initial results for downs, trisomy 13, and trisomy 18 and all came back negative. I was relieved. She said that the other results would be back in about 2 weeks but those were abnormalities that were much more rare.
Two weeks later I got the call: The results showed that the baby's cells had an extra fragment of a chromosome that was in every cell.
*This could be something that my husband and I carried, and if so, it would carry no significance.
*This could be something completely new, but still carry no significance.
*This could be something completely new, and be related to a specific syndrome but the chromosome had to be identified.
Regardless, I just couldn't believe what I was hearing. I mean, less than 1% of babies have something like this. So of course I began researching what chromosomal abnormalites were related to the heart defect. Immediately I found Cat Eye Syndrome. I just knew that had to be a possibility.
The genetic counselor called and confirmed that neither my husband nor I carried that fragment so this was something completely new in the baby. She also confirmed that it was either Chromosome 14 or 22 and that if we wanted to go for further testing it would have to be shipped to Washington State. We opted to go through with this testing. Meanwhile, I mentioned Cat Eye Syndrome to the genetic counselor. She said she had looked it up and discussed it with the geneticist, but he wasn't sure that it was that. In my heart of hearts, I just knew it had to be. How can you say it is not Cat Eye Syndrome when it comes from a fragment with chromosome 22 and the heart defect most commonly associated with this syndrome is TAPVR? It just seemed to fit. Well after a month and half of waiting, I finally received the phone call with the final results.
October 22, 2009- I decided to ride home with my husband from the volleyball game. (I am a head coach of a varsity team.) Again, this proved to be another decision led by God. It was something I never did, but I wanted to spend some time with my daughter. On the way home my phone rang, and it was the genetic counselor. And again, my gut instinct was confirmed. The fragment was confirmed to be the section of chromosome 22 associated with Cat Eye Syndrome. I was more numb than anything. Here I was so close to the end of this pregnancy, and I was just now finding out what I knew all along. I looked at my husband and explained everything she relayed to me and the car went silent. I didn't know what he was thinking, feeling, nor did I know what to say myself. Once home, the silence continued. I wanted so bad to know what he was thinking, but I wasn't sure how to approach it. He had watched me cry, scream, and shout, doubt God, be angry with God, and question everything and everyone, even my own existence and he always remained solid and optimisitic. Now here I was with no emotion, and I wondered if he was just waiting. Waiting for the next bomb to explode.
In October of 2008, my husband and I began to see a fertility specialist to help us determine the reason for my long and sometimes absent cycles. I was quickly diagnosed as having polycystic ovaries and was put on fertility drugs to help regulate ovulation. I went through 3 cycles of this drug and all were successful in ovulation, but none succeeded in producing a pregnancy. At this point, I was beginning to think that my dream of having a second child was ending quickly. I could not afford to do IVF, and the medication route was proving to be a dead end. After the 3rd failed cycle, the doctor switched me to a different fertility drug to see if I would respond better. Again..this only led to successful ovulation but no pregnancy. The reality of never having a second child was really starting to take a grip, and the emptyness I felt was really beginning to eat away at me. After meeting with the doctor, it was decided that I should have some further testing done to determine if I had blocked ovaries which may prevent fertilization. I was to call and have it scheduled with the upcoming cycle. Well, I called, but somehow the paper work never made it through in time to have the testing done during that cycle so I was going to have to wait until the next cycle. This was in March of 2009.
April 6th, 2009- Although I was not currently on fertility drugs, I was still keeping track of my cycles. So on April 6th of 2009 I was officially late for my cycle and decided to take a test just to see. And tada..I was pregnant. I was so excited and couldn't wait to tell my husband. I completely felt that this was a miracle of God. We had been trying to conceive for 18 months and it finally happened. I called the fertility clinic who then immediately brought me in for blood work. Having conceived one child already, this was an entirely new process for me. I was told that my initial bloodwork showed positive results for pregnancy, but I would need to return in 2 days to have it tested again to see if the numbers were rising..Again, this was all new for me. What happened to the good ole days where if your test showed positive, that was it?
So two days later, I returned and my results showed that my HCG levels were rising so now a viability scan was scheduled. I was told that in order for this pregnancy to be considered viable, a heartbeat had to be found.
April 13, 2009- I show up for my ultrasound with much prayer and hope that a heartbeat would be found, but with a nervous energy that I would leave with shattered dreams. As the doctor is doing the scan, I hold my breath waiting to hear the answer. As my gut instinct told me, he said, "I see a sac, but I can't find a heartbeat." He did say that it could be too early and that I needed to come back in a week and have another scan to see for sure. If there was still no heartbeat, then I would have a reason to be concerned. So I was rescheduled for another ultrasound.
April 17,2009- I return to face the machine again. This time, I am even more hopeful that a heartbeat will be found. And as my instinct told me, the doctor said "Here's the heartbeat." I was so relieved. But then he said, "It looks like there is another sac in there." He scrutinizes the screen and takes pictures, but he said he just couldn't say for sure so he wanted to see me in another week to take another peek. So I left the office with an entirely new set of worries, is there one or two?
April 24, 2009- I again return for the second look. The doctor immediately finds the heartbeat again, but it is at the same rate it was the week before. I mention this to him knowing that the heartrate should be increasing, but he says not to worry. Yet he still thinks there is a second sac but that it looks empty. He decides he wants me to go for a second opinion at about 8 weeks because it should be very clear if there is one or two at this point. So I am scheduled to have another ultrasound.
May 9th, 2009- I show up at the hospital to have another ultrasound to confirm if there is one or two babies in there. If you have had any experience with an ultrasound tech, they are not allowed to tell you anything so I did my best to pry answers out of her. She said she did not see a second baby, but that the one she could see had a good heartrate. So I left knowing that I had one viable pregnancy and could begin the exciting journey of preparing for this little one. I was then released to go to my regualr obgyn.
I decided at this point to go with a different obgyn since I was not pleased with my previous clinic. After contacting the new facility and finally getting scheduled for an appointment, I was almost 12 weeks pregnant.
I met with my new doctor, went over all my confusing reports from the fertility clinic, and discussed my prenatal plan. Being only 29, I was not considered high risk, but I was offered the option to have a NST scan done at 12 weeks. I had been on many pregnancy forums and was told that you got to have an ultrasound with an NST, so I couldn't resist the urge to take another peek at my little bean. I opted to have it done.
June 2009- Around the 1st week of June, I was scheduled to have my NST scan done at hospital in Charlotte, NC. When I was taken back to the room, I was so glad I ended up there because the facility was great. After reading the paper work and having the procedure explained, I suddenly became very nervous. They would be measuring the neck fold of the baby as well as some other parts of the baby to assess my risk for having a child with Down Syndrome, Trisomy 13, or Trisomy 18. I was quickly thrown into the reality of what this test might reveal, and my desire to have another peek at my little bean seemed not so important anymore. As I lay there, the ultrasound tech took all her measurements and said everything looked great. I was relieved and left with some great photos of my little peanut. I was happy. A few weeks later, my results were mailed to me showing normal findings with the NST.
July 2009- I continued the standard prenatal care and was anxiously awaiting the next ultrasound to be done at my obgyn so I could find out the gender. It was scheduled and my husband and I planned to take our 5 year old daughter so she could see the baby.
July 16, 2009- Off we went to the doctor with only hopes and dreams of what color the nursery would be and what names would we like the most. As I lay on the table for the ultrasound, I watched the ultrasound tech maneuver around and take many measurements. She was not talking very much, and I noticed that she kept taking repeat measurements of several parts of the baby. Now it had been 5 years since my last experience with ultrasound, but I quickly began to think that she was not being silent just because she was non social. She also knew we were waiting to hear the gender and my daughter was getting ancy to leave. She continued to take many measurements and my instinct was telling me that she was seeing something but I just couldn't figure out what it was. She finally did a quick scan of the baby's bottom, revealed it was a boy, and quickly got up and said, "I'll bring you pictures back in a minute." I knew then that something was not right. THe tech returned and gave me a few pictures and said to have a seat outside the doctor's office. My husband and daughter left to go back to the waiting room. The tech then went into the doctor's office and shut the door. I definitely knew then, that what was being said behind that door was not how beautiful my baby was, or that everything looked great. A few minutes later the doctor called me in and asked the nurse to bring my husband to the office too. My stomach turned and I could feel my adrenaline rushing. And so it began..
"This is not the news I was expecting to give to you today."
"The baby's heart looks rotated."
"The baby's femur bone is measuring behind."
"You have 2 markers for Down Syndrome."
"One good thing is your NST scan shows a low risk."
"You will need to go for another ultrasound at a high risk facility."
" There are many things that can cause these results."
Oh the flurry of thoughts, the rush of adrenaline, the sudden feeling of doom..I couldn't handle it and I broke into sobs. I wanted to know now exactly what the problem was. I needed answers, but I was told that the office would be closed until the following Monday. I honestly thought I couldn't wait that long. So my family and I left that office in total shock and devastation and I left my dreams of having a healthy baby laying on the ultrasound table.
At home, I couldn't eat, sleep, or do anything but cry. I needed answers and all this unknown was ripping me apart. On Friday morning, I received a phone call from the doctors office. The lady said she knew that the Level 2 ultrasound office was closed until Monday but that she could try and schedule me with the clinic in Charlotte that I went to for the NST scan. I jumped at the chance and thought to myself..only God can open doors like this..he knows my heart. She quickly called me back and said I was scheduled for Monday afternoon. I cannot express to you what that weekend was like..Some moments I was a complete basket case, other moments I was a zombie, and sometimes I was so overwhelmed I just couldn't think straight. Of course I also spent considerable time researching the internet trying to find the answers myself. None of which brought any sense of peace or calm to my life. So on Monday, we go in for the level 2 ultrasound. After having the ultrasound done, the doctor explains that she doesn't really see anything significant that would be cause for concern. I asked about the heart and she said, "well he is not giving me text book pictures, but I really don't think there is anything to be concerned about. I will schedule you for a fetal echocardiogram just to rule out all possibilities." I asked about the femur bones and she said "Well it measures about a week behind, but unless we find other markers, I don't consider the femur bone an accurate tool for diagnosis." I then asked about an amnio..At this point the genetic counselor came in and explained that I had no medical reason to have one done so I would probably have to pay out of pocket. She then explained that my NST risk assessment and ultrasound results gave me a .033% chance of having a baby with downs, trisomy 13, or trisomy 18 and that an amniocentesis carries a .367% chance of a miscarriage. She also reassured me that there was nothing that indicated to them that there were problems and reminded me that I was in a facility that looked at nothing but high risk patients. So I was relieved for the most part. I opted to not go through with the amnio and my fetal echocardiogram was scheduled for a few weeks later. I praised God that all was well.
August 2009- I return to Charlotte to meet with the fetal echocardiologist. He does an ultrasound of the baby again, and quickly turns to me and says "I think they are right in that your baby has a heart defect, but it is one that can easily be fixed. Let's talk about it in my office." So down the emotional roller coaster I go again. We are then informed that what he suspects my baby has is a rare heart condition called TAPVR or Total Anomalous Pulmonary Venous Return. He says it is fixed in one open heart surgery procedure and he suspects that my babies procedure would not need to be performed immediately. He did tell me that I would now have to deliver at that hospital which meant switching obgyn's again, but he made everything seem so simple and not a big deal that I was really not concerned. I left the hospital with a pretty good feeling.
But then I got home..I sat down and remembered the doctor telling me that if the baby had a heart defect, his risk of having chromosomal abnormalities would increase. I immediately was devastated. I just felt that this was inevitable. Over the next few days, I spoke with the genetic counselor and cardiologist and discussed my concerns. Both assured me that this was not a defect found in babies with downs, trisomy 13, trisomy 18. But I wanted confirmation, I just knew I needed to know for sure. The genetic counselor informed me that since there was now a heart defect, I could have an amnio done but it needed to be done quickly since I was getting closer to the time in which doctors did not do them. The discussion with my husband proved to be much more difficult than I thought. He is a numbers man and I am a realist. Statistically, he just couldn't justify taking a risk of miscarriage when my risk of a baby with chromosomal abnormalities was so low. I completely understood, but my point was that IF there was something wrong, I needed time to mentally prepare myself for the journey. I just didn' t think I could handle having another stick thrown into the fire when the baby was born. I felt having an amnio was important for my mental sanity. I completely respected my husband's viewpoint, but I was so anxious inside that I just couldn't let it go. We met with the genetic counselor again and discussed the options, weighed the risks, and heard each other's side. We were at a standstill, but finally agreed to go through with it. The procedure went well and I had a busy weekend and upcoming week to help pass the time for the upcoming results.
THe following week, I received the initial results for downs, trisomy 13, and trisomy 18 and all came back negative. I was relieved. She said that the other results would be back in about 2 weeks but those were abnormalities that were much more rare.
Two weeks later I got the call: The results showed that the baby's cells had an extra fragment of a chromosome that was in every cell.
*This could be something that my husband and I carried, and if so, it would carry no significance.
*This could be something completely new, but still carry no significance.
*This could be something completely new, and be related to a specific syndrome but the chromosome had to be identified.
Regardless, I just couldn't believe what I was hearing. I mean, less than 1% of babies have something like this. So of course I began researching what chromosomal abnormalites were related to the heart defect. Immediately I found Cat Eye Syndrome. I just knew that had to be a possibility.
The genetic counselor called and confirmed that neither my husband nor I carried that fragment so this was something completely new in the baby. She also confirmed that it was either Chromosome 14 or 22 and that if we wanted to go for further testing it would have to be shipped to Washington State. We opted to go through with this testing. Meanwhile, I mentioned Cat Eye Syndrome to the genetic counselor. She said she had looked it up and discussed it with the geneticist, but he wasn't sure that it was that. In my heart of hearts, I just knew it had to be. How can you say it is not Cat Eye Syndrome when it comes from a fragment with chromosome 22 and the heart defect most commonly associated with this syndrome is TAPVR? It just seemed to fit. Well after a month and half of waiting, I finally received the phone call with the final results.
October 22, 2009- I decided to ride home with my husband from the volleyball game. (I am a head coach of a varsity team.) Again, this proved to be another decision led by God. It was something I never did, but I wanted to spend some time with my daughter. On the way home my phone rang, and it was the genetic counselor. And again, my gut instinct was confirmed. The fragment was confirmed to be the section of chromosome 22 associated with Cat Eye Syndrome. I was more numb than anything. Here I was so close to the end of this pregnancy, and I was just now finding out what I knew all along. I looked at my husband and explained everything she relayed to me and the car went silent. I didn't know what he was thinking, feeling, nor did I know what to say myself. Once home, the silence continued. I wanted so bad to know what he was thinking, but I wasn't sure how to approach it. He had watched me cry, scream, and shout, doubt God, be angry with God, and question everything and everyone, even my own existence and he always remained solid and optimisitic. Now here I was with no emotion, and I wondered if he was just waiting. Waiting for the next bomb to explode.
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