An appointment with a neurologist probably isn't on the typical list of doctors to see when diagnosed with TS, however I have already been seeing a neurologist for about a year now. Since I was due for a follow-up with him, I decided to pose some questions. I have found my neurologist to be one of the most intelligent people I have met and last year he was actually the one that discovered my Vitamin B-12 deficiency. After initiating B-12 injections, I have found such a great relief to a lot of my joint pain (a random, unexpected, yet positive side effect to adding B-12). Since he caught something, seemingly simple but apparently not since no other doctor did, I posed the question of testing for Celiac's disease and the MTHFR test, which will tell you if your body is able to break day folate/B vitamins appropriately. This test is used for two reasons: 1) depression that has not been alleviated with anti-depressants because your body may not be synthesizing correctly and 2) recurrent miscarriages due to blood clotting issues. Although he stated he appreciated my research and feels I will have to be an advocate for myself, he feels I need to go back to all the other doctors and provide this new diagnosis to them and allow them to run a full gamete of tests and not just pick and choose. He said he is shocked to find out that I have TS because I am not the typical phenotype. He looked at me in amazement and stated "I have never met anyone like you!" Any other time that statement would have sounded seductive lol, but in this case I told him that was not necessarily a good thing. He told me he had never met a mosaic TS before, but would definitely be doing some research for me. At least I have him in my corner now.
My husband and I decided to call around to see if any of the pediatric TS clinics can recommend an endocrinologist that specializes in TS for adults. Apparently that is definitely a direction I need to head because some signs of pre-menopause can include.... joint pain! So there may be a lot of my issues that can be fixed if we can see to get any hormonal issues straightened out. I had never had a hormone check because... well I'm only 29, so who would have thought?
Just trying to navigate through all the craziness....
~T.
Showing posts with label Turner syndrome. Show all posts
Showing posts with label Turner syndrome. Show all posts
Tuesday, July 10, 2012
Tuesday, June 19, 2012
The Reproductive Endocrinologist 
I have decided to skip over a few doctors, which I will come back to later, in order to share in my most recent experience. Although, there has been a lot to come from my diagnosis, the issue that is effecting me most prominently right now is the issue of whether I will be able to get pregnant and carry a biological child, a healthy biological child. While I have wanted to adopt since I was 12, I have also wanted the experience of being pregnant and sharing that with my husband and family. I know in my heart that I will love a biological and an adopted child the same. I just wanted the opportunity for my husband and I to have both experiences, two uniquely different and special experiences.
Last week my husband and I met with a reproductive endocrinologist (RE), following the advice of the genetic counselor and the high-risk OB. After sitting down and meeting with him, he did an extensive vaginal ultrasound to check the structure of my uterus, cervix, fallopian tubes, and ovaries. He said structurally everything looks good: nice healthy cervix, no scarring in my uterus, no blockages in fallopian tubes and the sizing of my ovaries looked good. The problem he noticed was with my follicle count. One of the issues with TS is the risk of premature menopause and premature ovarian failure. While most women my age would have 6-10 follicles per ovary, he only found 4 on one side and 5 on the other. This led him to believe that I did in fact have a diminished ovarian reserve. His recommendation was that we not wait to start the IVF (in-vitro fertilization) process because if we did, even a year, it may be too late. He stated that even if we tried to get pregnant naturally, if we did not have a healthy pregnancy and had a miscarriage, we may not have enough of my eggs left to have a successful IVF cycle. This news was shocking to me since I have always had regular cycles and never had any signs that I am "running out of time". Additionally, they took some blood work to run an AMH (Anti-Mullerian Hormone) to obtain a more accurate count on approximately how many eggs I have left. Here is a link I found with more info on the AMH: http://www.drmalpani.com/amh.htm. We have an appointment today to go back and review the results of my AMH and to get information on our next step. I will update you with the results and our process soon.
I am trying very hard to remember the Father's Day sermon from two days ago. After crying through the first few minutes of the service, where they have all the dads stand up to be applauded and I had to watch my husband, father of my angel baby just sit there, I was able to take away an important message. I have to remember that it is not about obedience to God, but dependence on Him in my life. This situation that I am in is something that is completely out of my control. I have to continue to roll with the punches as I receive more and more information. I have to rely on God's plan for my life and know that His plan is greater than anything I could ever control. It's not enough for me to just obey His words, but I must depend on Him to do what is right for me, whether I can figure that out now or not. I will continue to pray for His love and almighty wisdom in the coming days, weeks and months.
~T.
Last week my husband and I met with a reproductive endocrinologist (RE), following the advice of the genetic counselor and the high-risk OB. After sitting down and meeting with him, he did an extensive vaginal ultrasound to check the structure of my uterus, cervix, fallopian tubes, and ovaries. He said structurally everything looks good: nice healthy cervix, no scarring in my uterus, no blockages in fallopian tubes and the sizing of my ovaries looked good. The problem he noticed was with my follicle count. One of the issues with TS is the risk of premature menopause and premature ovarian failure. While most women my age would have 6-10 follicles per ovary, he only found 4 on one side and 5 on the other. This led him to believe that I did in fact have a diminished ovarian reserve. His recommendation was that we not wait to start the IVF (in-vitro fertilization) process because if we did, even a year, it may be too late. He stated that even if we tried to get pregnant naturally, if we did not have a healthy pregnancy and had a miscarriage, we may not have enough of my eggs left to have a successful IVF cycle. This news was shocking to me since I have always had regular cycles and never had any signs that I am "running out of time". Additionally, they took some blood work to run an AMH (Anti-Mullerian Hormone) to obtain a more accurate count on approximately how many eggs I have left. Here is a link I found with more info on the AMH: http://www.drmalpani.com/amh.htm. We have an appointment today to go back and review the results of my AMH and to get information on our next step. I will update you with the results and our process soon.
I am trying very hard to remember the Father's Day sermon from two days ago. After crying through the first few minutes of the service, where they have all the dads stand up to be applauded and I had to watch my husband, father of my angel baby just sit there, I was able to take away an important message. I have to remember that it is not about obedience to God, but dependence on Him in my life. This situation that I am in is something that is completely out of my control. I have to continue to roll with the punches as I receive more and more information. I have to rely on God's plan for my life and know that His plan is greater than anything I could ever control. It's not enough for me to just obey His words, but I must depend on Him to do what is right for me, whether I can figure that out now or not. I will continue to pray for His love and almighty wisdom in the coming days, weeks and months.
~T.
Monday, June 11, 2012
The Diagnosis
I was encouraged to begin this blog after my own search for women sharing their experiences in my situation turned up nothing. I thought that maybe if I shared my path and the impact my diagnosis has had on my life, it could be beneficial for someone down the road. I have longed so much to talk to someone who has walked this path before me to give me advice, encourage me, help me figure out the next step, and I have yet to connect. I hope this blog will be an encouragement and a blessing to you, even though as I write this, I don't know how my story ends.
So how did it begin?...
I guess I will start with what is most important to me. After more than 2 years of trying, including about 5 months of using an OPK (ovulation predictor kit), my husband and I found out we were pregnant for the first time on January 23, 2012. I had taken a pregnancy test the week before and it came back negative. After another week of waiting for the dreaded period to come, I went ahead and took another, the only reason being is so I could "let go" of the idea that pregnancy was a possibility. After 2+ years of trying I have had more than my fair share of negative pregnancy tests and with this one there was not an inkling of belief in me that it would turn positive. Boy was I wrong! It turned positive in less than 30 seconds! My hands shaking, I walked down the hall to share the most wonderful news I had ever received with my husband of 5+ years. We were ecstatic and scared that it could all be too good to be true. I did the usual blood tests to check my hCG levels over several days and they went up just like they were supposed to. I was 5 weeks pregnant. Finally! Two weeks later we went in for our first exam, more bloodwork, and our first ultrasound. I was so terrified that the pregnancy would not be real, that something would be wrong. When we heard our baby's heartbeat for the first time and saw the little blueberry, I had tears in my eyes. It was the purest, happiest moment of my entire life. As my mom said, "best picture ever". We were told it would be safe to share our good news since the heartbeat was so strong and all the labwork looked good. Over the next few weeks we shared the news with parents, siblings, aunts and uncles, grandparents, cousins and a few select friends. We made so many plans and were so incredibly happy, the happiest time of our lives.
I wasn't prepared for that 11 1/2 week checkup. We planned on sharing the amazing news with the rest of the world that next Monday, the 12 week "safe mark". Five days shy of that mark my world collapsed. The words I will never be able to get out of my head as the doctor looks at the ultrasound of my baby, "Guys, I am so sorry, I can't find a heartbeat." Everything seemed to happen so fast then, she brought in another doctor to confirm and we were given our options. We elected to have a second opinion at a perinatologist. He confirmed what we already knew and said there was no chance that they could be wrong, not with a baby that far along and that size. Our baby was only the size of a baby around 9 weeks, instead of 11. My doctor strongly advised me to proceed with a D&C due to the size of the baby and the risk to me. The procedure was scheduled for March 9. I can't even begin to put into words what I felt and the thoughts that went through my head during that time. I will leave those for another post. Suffice it to say that I never have to question what the worst day of my life was or how the experience changed me. I felt like I had lost my whole world, all my hopes and dreams for the future family I wanted my husband and I to have together, all my hopes and dreams and the planning for that little one growing inside.
We found out several weeks after the procedure that my baby had something called Turner syndrome. Turner syndrome is one of the biggest causes of miscarriage and 99% of babies with the syndrome either spontaneously miscarry or are stillborn. Turner syndrome (TS) is a chromosomal condition where either all or part of the second x chromosome is missing. We now also knew at this point that my baby is a little girl, since only females can have TS. I have found records stating that anywhere from 10-20% of miscarriages are caused by TS. It is not a genetic condition, meaning a woman cannot be a carrier of a TS gene and if you have one baby or miscarriage due to TS you are not more likely to have another with the condition. Usually.
The case is different for me for a very important reason. When my husband and I went for our post-surgical followup appointment, the doctor's office took blood work in order to do our karyotype testing. Even though they would usually only proceed with the karyotype test after 2+ miscarriages, they recommended we go ahead since we had been trying to get pregnant for so long. After a few weeks, the doctor called and I received another shocker. I was diagnosed with Mosaic Turner Syndrome. Mosaicism just means that instead of me missing the second x chromosome in my entire DNA strand, I am missing it in some parts of my DNA, but not all. I couldn't believe the diagnosis was true because everything I had read about TS after I was told my baby had it, did not match me. According to what a woman with TS looks like, I wouldn't fit into that phenotype, or the observable traits. I am tall, do not have the extra neck skin, and have a normal hairline and eyes. Also, I have had a regular period since the age of 12 and was able to conceive a child. Typically someone with TS will either have an irregular cycle or never start their period at all.
Due to the fact I have TS, I am more likely to conceive a child with TS because my eggs may not have the appropriate DNA coding to pass on. This puts me at a higher risk for miscarriage.
How much higher? Not sure. Possible to conceive and deliver a healthy, biological child? Not sure.
Everything I knew about myself changed in that instant. The phone call that once again flipped my world upside down was received on April 10, two months ago yesterday.
I would like to share throughout various posts all of the doctors I had to followup with and what my experience has been thus far. Again, I hope this blog is a blessing to you on your own journey. I am looking for meaning behind this diagnosis and hoping some greater good will come of it.
~T.
So how did it begin?...
I wasn't prepared for that 11 1/2 week checkup. We planned on sharing the amazing news with the rest of the world that next Monday, the 12 week "safe mark". Five days shy of that mark my world collapsed. The words I will never be able to get out of my head as the doctor looks at the ultrasound of my baby, "Guys, I am so sorry, I can't find a heartbeat." Everything seemed to happen so fast then, she brought in another doctor to confirm and we were given our options. We elected to have a second opinion at a perinatologist. He confirmed what we already knew and said there was no chance that they could be wrong, not with a baby that far along and that size. Our baby was only the size of a baby around 9 weeks, instead of 11. My doctor strongly advised me to proceed with a D&C due to the size of the baby and the risk to me. The procedure was scheduled for March 9. I can't even begin to put into words what I felt and the thoughts that went through my head during that time. I will leave those for another post. Suffice it to say that I never have to question what the worst day of my life was or how the experience changed me. I felt like I had lost my whole world, all my hopes and dreams for the future family I wanted my husband and I to have together, all my hopes and dreams and the planning for that little one growing inside.
We found out several weeks after the procedure that my baby had something called Turner syndrome. Turner syndrome is one of the biggest causes of miscarriage and 99% of babies with the syndrome either spontaneously miscarry or are stillborn. Turner syndrome (TS) is a chromosomal condition where either all or part of the second x chromosome is missing. We now also knew at this point that my baby is a little girl, since only females can have TS. I have found records stating that anywhere from 10-20% of miscarriages are caused by TS. It is not a genetic condition, meaning a woman cannot be a carrier of a TS gene and if you have one baby or miscarriage due to TS you are not more likely to have another with the condition. Usually.
The case is different for me for a very important reason. When my husband and I went for our post-surgical followup appointment, the doctor's office took blood work in order to do our karyotype testing. Even though they would usually only proceed with the karyotype test after 2+ miscarriages, they recommended we go ahead since we had been trying to get pregnant for so long. After a few weeks, the doctor called and I received another shocker. I was diagnosed with Mosaic Turner Syndrome. Mosaicism just means that instead of me missing the second x chromosome in my entire DNA strand, I am missing it in some parts of my DNA, but not all. I couldn't believe the diagnosis was true because everything I had read about TS after I was told my baby had it, did not match me. According to what a woman with TS looks like, I wouldn't fit into that phenotype, or the observable traits. I am tall, do not have the extra neck skin, and have a normal hairline and eyes. Also, I have had a regular period since the age of 12 and was able to conceive a child. Typically someone with TS will either have an irregular cycle or never start their period at all.
Due to the fact I have TS, I am more likely to conceive a child with TS because my eggs may not have the appropriate DNA coding to pass on. This puts me at a higher risk for miscarriage.
How much higher? Not sure. Possible to conceive and deliver a healthy, biological child? Not sure.
Everything I knew about myself changed in that instant. The phone call that once again flipped my world upside down was received on April 10, two months ago yesterday.
I would like to share throughout various posts all of the doctors I had to followup with and what my experience has been thus far. Again, I hope this blog is a blessing to you on your own journey. I am looking for meaning behind this diagnosis and hoping some greater good will come of it.
~T.
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