Strength Found

Yesterday at church God spoke to me.  I mean spoke so clearly that I felt He could have been standing in front of me speaking out loud.  While singing the worship songs, I began praying and telling God that I just don't even know what I am supposed to be praying for.  I have tried and tried to pray and after losing Taylor Grace (1st blog), I learned that just because you pray and believe, sometimes God has a different plan.  This knowledge can make prayer a very difficult thing and so I have struggled with how to pray, knowing God's plan may not be what I am praying for.  Saturday was such a low, low day for me after overhearing a conversation about someone about to deliver their baby, her due date is this week.  I really was feeling like having a baby was not a possibility for me and that I was just not "getting it".  As I was praying I told God "I don't know how to pray, I am trying to understand [everything going on], I just don't."  Very quickly and very distinctly the words "You don't have to understand, I do" came into my head.  Then I prayed "But God I don't think I'm strong enough to handle this." Just as quickly as the first time, I heard "You don't have to be, I am strong enough."  I wish I could explain into words how I knew those words were from Him.  I had the same conversation with my husband the night before and he told me "you are strong enough", but I just knew I wasn't and that is why I have been struggling so much.  BUT, God knew the words I needed to hear, even if I never knew what those words were- God is strong enough.  So I share these verses with you:

The Lord is my strength and my song; he has become my salvation. -Psalm 118:14

He gives strength to the weary and increases the power of the weak. -Isaiah 40:29

The Lord is the strength of his people, a fortress of salvation for his anointed one. -Psalm 28:8

The Lord gives strength to his people; the Lord blesses his people with peace. -Psalm 29:11

I can't tell you the peace I felt after I heard those words.  I have allowed myself the opportunity to not spend every waking (and sleeping according to what my dreams have focused on) second on worrying about what is to come.  Worry only robs today of it's joy.  I have found the one thing in my life I truly and honestly cannot control, so I must give it to God.   

Cast all your anxiety on him because he will give you strength. -1Peter 5:7

Next week I follow up with my neurologist, whom I have been seeing for about a year.  I will update him on my diagnosis and see if he has any insight.  He is the one who introduced me to the joys of Vitamin B12 and its miraculous effects on me.  I plan on asking him about the comorbidity between TS and Celiac disease.  I'm wondering if that may be the answer to my long-standing very painful stomach issues.  Always more questions, right?

~T.

AMH

  AMH results are in... 0.69 ng/mL.  This officially puts me in the "low fertility" range.  We knew it would be low after my lower follicle counts, but I was hoping not quite that low.  I had to do a lot of deep breathing to keep from crying throughout our 2 hour appointment Tuesday.  We completed our loan process and later Tuesday paid the $3,000+ for our medications.  Both hubby and I began our specialized prenatal vitamins on Monday and now all the others are waiting for the first day of my cycle, when I will begin the birth control pills (I know sounds backward) and call the office to get my schedule.  On Wednesday, we had our PGS (pre-implantation genetic screening) counseling appointment over the phone for them to completely explain that process.  Thursday, hubby signed for the box-o-shots and now it is just wait time.  I go back and forth from hopeful to hopeless and after re-watching Soul Surfer I keep reminding myself of when Bethany said "I don't need easy, I just need possible."

Jesus looked at them and said, "With man this impossible, but with God all things are possible."

  Sometimes it is hard to see pregnant women and wonder "Will that ever be me?"  I just try to take it one slow day at a time and rely on my support system to carry me through.  I am so blessed with the family and friends that I have, but most especially with the amazing husband God has gifted me with.  Without him, I wouldn't have made it this far and I would have lost every last bit of hope.  And again I remind myself that with God all things are possible.

~T.

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.

The Cardiologist

  The first appointment after my diagnosis was with my cardiologist.  When my OB/GYN told me about the diagnosis over the phone, she stated it was very important for me to follow-up with a cardiologist due to the possible risk of aortic dissection.  It was explained to me that about a third of women with TS have cardiac issues.  I called a cardiologist that was a friend of the family (long-time friend of my uncle) and his office actually got me in that same day due to a cancellation.  He completed an echo-cardiogram, or sonogram on my heart.  This procedure was completely pain free and not uncomfortable at all.  He was able to provide me with the results right away and said that the echo came back perfectly normal.  He recommended me to go ahead and have an angiogram, like a CT scan for your heart.  That was scheduled for a week later. 

 The angiogram was a little more uncomfortable.  It involves having some dye injected into a vein in your arm, which then spreads down the length of your body.  For me, it felt like my chest was very heavy and tight and then a warmth spread down my body into my abdomen.  At one point it really made me feel like I was going to urinate on myself.  Luckily the tech had warned me about this sensation before I started so I knew I wasn't a grown woman having an unfortunate accident on their testing table.  I remember just feeling very anxious throughout the test.  The cardiolist's office called me the next week and said that those results too were normal. 

  The doctor told me that with good results on both those tests, he was not overly concerned about my heart and that it looked very normal.  He recommended that I follow-up every two years for the rest of my life, just to make sure nothing comes up.  He also recommended that if I get pregnant, I should see a high-risk OB, just to monitor issues that may arise due to increased stress on the body during pregnancy. 

  If you are newly diagnosed with any form of TS, your doctor will tell you that a cardiac check-up is a must.  For more information on possible issues involving your heart, the Turner Syndrome Society has great information and suggestions.  http://turnersyndrome.org/resources/healthcare-topics

~T.

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.