Beginning of our Story of IVF, Twins and Trisomy 18

I wanted to start this blog to keep our family and friends involved with everything going on with our pregnancy.   I will update this blog with my thoughts and updates of doctor's appointments so everyone will know at once how everything is progressing.  This story is easier for me to write than it is to speak so I hope everyone understands. 

I am not a blogger, a writer, heck I don't even have a diary so I will apologize in advance for the many grammar errors you will find and for the lack of writing skills. These words are just flowing out as I type our story and my emotions are all over the place.

For some, you do not know that Bill and I had a hard time even getting pregnant.  After almost a year of trying on our own, we turned to our OBGYN to help us find out what could be the cause of us not getting pregnant.  After several blood tests and about 6 procedures (1 HSG test and 5 IUI’s), the results always came back inconclusive or yet another another single lined pregnancy test.  This all meaning that we have unexplained infertility.  Our next stop on our "Infertility Roller-coaster" was to Tufts Medical in Boston for our first attempt in IVF - (I will blog soon about my personal experience with infertility).  The process it took us to get pregnant was unbelievable.  We learn as we grow up that it only takes one time, well for Bill and I it took about what felt like a million negative pregnancy tests, tons of hormone medication and giving myself shots everyday to figure out that it is not as easy as one may think.

We were so pleased to find out on January 26th that our first round of IVF was successful. We were even more pleased to find out that both of the eggs that we implanted took and we were pregnant with TWINS!  This was such an unreal feeling. I couldn't believe we were not only blessed with one baby, but two!!  This whole last year and a half was well worth all the pain, needles, hot flashes and sleepless nights.  We were finally going to be parents!  Our dream was coming true.

My first trimester was full of throw up, headaches, tiredness and trips up to Boston for ultrasounds.  It really was not that bad.  I would say that I was lucky.  I have heard how bad morning sickness can get with twins.  We were released back to our local OBGYN for our 12-week appointment so the trips to Boston in rush hour traffic were over. We were excited about that.

At 18 weeks along with my parents, Bills mom, my two younger sisters and my best friend Heather we traveled to the Stork Connection in North Dartmouth to find out the babies genders.   I would definitely recommend the stork connection for everyone.  It is expensive but to have your family and friends in the room with you is an experience I will never forget.  We found out we were having 2 girls!  We were all a little shocked because we were all set on 1 boy and 1 girl but I must say that deep down I didn't care of the gender, I loved both of these babies so much already.  It is strange as an expecting mom, the bond that you have with your unborn child at such an early age.  I don’t think anyone truly understand this feeling until you are pregnant. 

The following week, Bill and I had the day off and we went to our normal doctor check up and ultrasound at my OBGYN’s office and then we planned on going to register for our baby shower with my mom.  This day turned out nothing as I had planned for my whole world turned upside down when the doctor spoke the words "there is something wrong”.  No expecting parent wants to hear this news.  She continued to tell us that one of our babies was developing more than 2 weeks smaller than the other and that she had a club foot.  She went on to say that these are both symptoms of either Down syndrome or a genetic disorder like Trisomy 13 or 18.  I am pretty sure as soon as she said something was wrong, I was in a daze.  I was crying and I could see her speaking but I wasn’t listening.  It took all my power not to jump up from the bed and run out of the office.  She could not give us a clear answer so she said we have to wait a week to get into Providence for a level 2 ultrasound.   We tried to stay busy as for Bill went back to work and I went onto California for a work conference.  Not a day went by were I was not frightened and nauseous at the fact that there may be something wrong with our baby or even worse both of our babies.  The babies that we wanted so very badly and went through so much to have.  We decided that it would be best to name our girls before we found out any further news.  So across the country from one another we decided on two names; Alexa Lee and Sophia Rose.  No more Baby A and Baby B.  Our girls now have an identity.  We decided that whichever baby was located in the first position would be Alexa and the 2nd baby would be Sophia.  They change spots every ultrasound so we really didn't know who would be who. 

The day after I returned back from California, Bill, my mother and myself made the trip up to the PDC at Women & Infants Hospital in Rhode Island.   Here we had a level II ultrasound and the doctor and a genetic counselor came in to talk about the results.  They did confirm the same results as our OBGYN.  "Baby A", Alexa Lee is growing smaller, has a club foot and has 2 choroid plexus cysts in her brain.  All symptoms of Trisomy 18 or another genetic syndrome.  After breaking down and feeling the same way that I did back at my OBYGN a week earlier, I caught my breathe and we met with the genetic counselor to explain what our options were.  Continue the pregnancy with no testing and take the "just see what happens" approach or we could have an amnio done on just one or both babies to determine what exactly is wrong.  That day we decided to have an amnio done just on Alexa for there are no symptoms at all that would cause us to think that Sophia was in any danger and I didn't want to double the risk of a miscarriage.  The amnio was down that same day, it was painful but I just remember staring into that little black and white monitor at Alexa moving all around and knowing that she is not in pain.  After the appointment, I think we were all wishing that it would be Down syndrome or better yet a mistake.  We had to wait about 24 hours for the results.  At home, I researched Trisomy 18, otherwise none as T18 or Edwards Syndrome and it was the scariest thing I have ever read.  T18 is a condition that is caused by a chromosomal defect in about 1 out of every 3000 live births.  The effects of this syndrome are fatal.  This syndrome is known to the world as being "Not compatible with life".   It is frightening and made me nauseous to think my daughter may not survive.  If you are interested in learning more about this syndrome you can go to www.Trisomy18.org

The next mourning I answered the phone to hear the worse news confirmed.  Alexa has full Trisomy 18.  I dropped the phone and started crying into Billy's arms.  Thankfully my mother was there to pick it up and finish the discussion with the counselor.  After receiving the results; Billy, my parents and myself sit in my living room quiet.  Not knowing what to say or what to do.  My mind just racing with thoughts on why this is happening, will Alexa be in pain, will I ever get to meet her alive, how can I deal with burying my daughter.  My thoughts were endless and it kept me up every night for the first couple of weeks. I felt lost, depressed and even though we have a great family that was there for us 100% and I have a supportive husband, I felt alone.  The worst part is the helpless feeling that you have.  Not being able to do anything to save my daughter from this awful disease. 

Day by day I am getting stronger and realize that Alexa is still with us.  She is fighting to get stronger and stronger each day too.  She is being a fighter for her sister Sophia.  Now we pray that we just get to meet her, even for a few moments.  I am 25 weeks so we still have a long journey to get to that point and I hope that she sticks with us.

I want to say thank you to my husband, both of our families and our close friends who have been there for us through all of this.  The text messages, cards, kind words, dinners, etc. do not go unnoticed.   I would be lost without all of you.  Special thank you to my Mom who is there for me for long commutes to the doctors, getting me out of the house even know I feel like crawling up in a ball and crying, her good advice and for always being there to listen to me when I need to talk.  I love you.

Thank you to my Aunt Debbie who sent me some books which one is entitled "I will carry you" by Angie Smith.  This book was read in less than 2 days, I couldn't put it down.  Finding out this horrible news, it was hard to not be mad at God.  I felt like I needed someone to blame.  This book helped me to believe again and to have the faith that I need to take it day by day and be strong for both of my girls.

A thank you to Lee, a member of the Trisomy 18 Foundation that has been in contact with me throughout the last couple of weeks sharing her experience 5 years ago with her 2 daughters, April and Carlee.  Your inspiring words have given me faith and assurance that everything is going to be ok.  I appreciate you taking the time and sharing your story. 

Here is an excerpt from one of Lee’s last emails to me that I would like to share: “Trisomy 18 is the killer of dreams-no doubt-but our babies give us dreams and hope by fighting against all odds--and even the tiniest improvement, is HUGE.  Alexa is saving Sophie's life by fighting so very hard-and you, the keeper of her legacy, even as it breaks your heart, cheers her on. It is a beautiful, painful dance we do as moms of twins. And that beautiful painful dance is one we do forever more. As we celebrate and are joyful for one of our daughters entering the world, and/or reaching every milestone--our hearts rip open because there should be TWO--we constantly say goodbye-we are always reminded. There always should be two. It is a harsh fact we live with daily.”

I have attached 3D images of both our girls from our appointment a week ago.  My next appointment is in 2 weeks and I will write again then…

Thank you for listening.

With love,

Stephanie

Sophia Rose - 24 Weeks - 1 lb. 9 oz.

Our fighter Alexa Lee smiling at us.. 24 Weeks - 12 oz.