Thursday, May 31, 2012

When I First Found Out- about 9 weeks ago.....

When I first found out that our baby would be sick (heart only, no chromosome concerns at that time), I found comfort in writing.  I just came across some of the things that I wrote so I wanted to share.  I had just had my anatomy scan so naturally people wanted to know if I was having a boy or a girl but this conversation was just too new and fresh for me so I had to find a way to talk about my baby without crying.  So I wrote some poems:

This was my way of letting people know that she was sick.  I actually typed this up and handed it out to some people (this was a VERY sad time for me and I needed to function at work without crying so this poem made it easier for me somehow)........

Amy's Precious Baby

Please say a little prayer
As my baby girl may be ill
They worry that her heart is "broken"
Which makes my heart be still

It is hard for me to talk about
So it is easy for me to write it out
I will tell you more as I know
But for now please pray, pray, pray

Now this second one is not completely finished as it was just something I was working on to help express that I needed people to treat me as normal as can be...........

Broken Heart

I need you to treat me normal
as normal as can be
The days ahead will get harder
so for now treat me as me

I'm saddened that my baby girl
is sick with a broken heart
I have good days, I have bad days
it has been that way since the start

Everyone has a right to be sad
because we know not what the future holds
For now lets find a way to cope
because with her diagnosis, there is still hope

You can be sad, you can cry
you can have your moments or days too
But I need everyone to be strong around me
so I can get through this too

So let's talk about the weather
and trivial things in our day
Because living as normal as possible
is what I need for today


I never said they would be good.  :)  I just found peace when writing out my emotions because it truly was easier for me to write about her being sick (emails, texts, poems, etc) rather than verbally talk and look at people.  The emotion to cry was just so strong and I am doing better but as many of you know, I still have my moments.  Thanks for reading!  

Monday, May 28, 2012

Cross Contamination Results are now in....

The hospital said it would take up to four weeks to get the cross contamination results in but we got them in about 10 days.  This past Friday the geneticist office called with the results.... no cross contamination!!!  No cross contamination was the best case scenario at this point so this was great news.  No cross contamination means that the extra chromosome 17 material is not in every cell of her body but rather it is truly a mosaicism.  We still don't know exactly how our baby will be effected but we know that only part of her will be effected by the extra chromosome 17.  They estimate that 30-50% of her cells will have the extra chromosome 17 material but another sample could yield another percentage.  So at this time it is a guessing game of how she will be effected and whether it will be mild to severe.  **My second post "Why we are believing.." explains the mosaicism and cross contamination even better.**

I think it is safe to say that her heart has been effected but no one knows what else will be effected.  The 30% could be her heart alone, her heart and other organs, her heart and muscle tone, her heart and cognitive ability, etc.  There is truly no way to know in what combination this extra chromosome will effect her.  So now we wait for the next ultrasound and pray that everything else still looks good.  Beyond ultrasounds we will wait for her to be born to see how this will effect her.  We will not know cognitive development until later but other characteristics could present itself earlier (i.e., facial features, cleft palate, muscle tone, problems with other organs, asymmetry of the body, etc) or hopefully those things will never present itself.  :)

The problem in the future is not knowing whether the chromosome 17 causes something a certain outcome or if it is from the heart condition/ surgeries (i.e., being physically restricted from moving for a time period, using machines to keep her alive like an ecmo, etc).  So if she is showing developmental delay (i.e., not rolling over at the same time as other kids, having trouble with feeding, weaker muscles, even cognitive development, etc), is that from the heart and surgeries, the extra chromosome 17 material, or both?  She may just remain a mystery for a long time... as long as she survives and has a good quality of life, she can remain our little mystery.  :)  Thanks for reading!          

Wednesday, May 23, 2012

WOW!! Wonderful doctors appointment today!! I will take all of the great news that I can get right now...

     I am floating with happiness right now because Ricky and I had the greatest doctors appointment today.  I know this news can change at any time but for today, for the moment, and for now.. I will take any good news that we can get!!  So our baby is still growing strong!  She measures right on her due date, her heart rate is 142 (right where it has been), and she is estimated to be 2 pounds and 4 ounces!  She even moved her hands long enough to get a profile picture!  We finally got a profile picture at 27 weeks!  (picture below)

     They also checked for symmetry of her bones which looked great and her arms/ legs measured great!  Her brain and head measured great!  They saw no fluid on her brain!  Her heart still has a strong function like last time (as strong as it can be with her heart condition but I will take that)!  They STILL see NO other markers, other than the heart, on the ultrasounds which is wonderful, wonderful news!  I couldn't have asked for more of a positive appointment!  Again I know this can change at any time but for this moment... she looks GREAT!  I get another ultrasound in 3 weeks as there is no need to come sooner since things look so good!  

     Our next steps are to tour the hospital where I will deliver, tour the children's hospital along with their Neonatal Intensive Care Unit (NICU) where she will have surgery, meet with the pediatric cardiologist, and a little later.. meet the pediatric cardiac surgeons.  Well and wait for the cross contamination blood work too and that could be up to 3 more weeks!  I would almost be fine with 3 more weeks because I could hold on to this good news for THREE more weeks!  That sounds wonderful!  Three weeks of GOOD news!!  :)  Thanks for reading!

This is our baby girls face (side profile) with her hand right in front of her face!!  We even have a picture of her sucking her thumb!!  So sweet!! 

Tuesday, May 22, 2012

Why we are believing in hope and love...

     During December 2011, Ricky and I found out that we were expecting another baby.  The first trimester of pregnancy was hard with exhaustion, morning sickness, motion sickness, nausea, etc and it finally got better around 16 weeks (in the second trimester).  I just kept saying that this pregnancy was different and I was right.. I just didn't know how right I was.  So fast forward to March 30th and this is the day that Ricky and I went to our babies anatomy scan.  This was supposed to be such a happy day because we would find out if we were having a girl or a boy.  Makayla really wanted a girl, Blake really wanted a boy, Ethan preferred a girl, and Sarah was okay either way.

     So we found out that we were having a girl and we needed to "hurry and get to the waiting room to see the doctor" per the ultrasound tech.  I thought the tech looked at our babies heart a lot but I didn't say anything to Ricky because he would just think that I was paranoid.  Ricky actually spoke up and said that he thought she looked at the babies stomach a lot.  So we knew in our heart that something may not be right.  So about 20 minutes later we saw the doctor and she started out our visit with excitement.. "So you are having a girl..etc, etc.." and then a few minutes later she flipped the chart open to say.. "we see something that we are concerned about..".

     My doctor went on to say that it does not appear that our baby girls heart has developed the right way and they believe she has something called Hypoplastic Left Heart Syndrome.  Everything changed with that.. "you can't deliver at your hospital, you need to switch to a high risk OBGYN so I will not be able to deliver your baby (and I love my OBGYN), you need to deliver downtown because that hospital is connected to the children's hospital, your baby will require open heart surgery, she will not be coming home right away, you need to get an amniocentesis to see if there is an underlying genetic/ chromosome issue related to this heart condition...etc.."  Everything changed.. so I cried because of the unknowns.  I just wanted to hear her heart beat and know if we were having a girl or boy- that's what I came for- not all of this.

     So almost 2 weeks later I saw a high risk doctor, had an amniocentesis, had an ultrasound..etc.  The high risk doctor confirmed the Hypoplastic Left Heart Syndrome so she did really need the three open heart surgeries.  The amniocentesis results would be back in about 2 weeks but nothing else on the ultrasound showed concern so both doctors (regular OB and high risk) didn't feel that the amniocentesis would show anything because my blood work screening tests also came back normal.. and I wish their predictions were right but that is not how it turned out.  Also, the high risk doctor said that our baby had about a 50% chance of survival just from the heart condition and surgeries alone.  He wanted us to know how serious this heart condition was and if she was born before 34-36 weeks, they couldn't try to save her.  Wow.. the news just kept getting worse and worse.  I wasn't ready to give up and I just kept hope as much as I could while still facing the reality as best as I could.

     So on Blake's birthday I spoke to the high risk doctor very late at night to learn that our baby had extra chromosome material and at this time they thought it was related to down syndrome.  The conversation even ended with "have we talked about termination?".  I didn't handle that well.  I just said "No, I can't.. I can't.. I can't".  So we stopped that conversation.  We "were up against the clock because our state allows you to terminate up to 24 weeks and all of the chromosome results may take weeks" and I was right at 23 weeks.  I just couldn't, I couldn't.  The next day I spoke to my regular OB and she helped me to make sense of everything.  During all of this I was told that my baby appeared to have Mosaic Down Syndrome (related to chromosome 21), a very rare form of down syndrome.  About four days later I found out that it was not Mosaic Down Syndrome but now it appeared to related to chromosome 17 (possibly).  

     So we have since seen a pediatric cardiologist, a geneticist, a genetic counselor, my regular OB, and the high risk OB plus we have had 2 more ultrasounds.  Things became very hectic, very fast.  The saddest appointment that I had was when I was advised that it really did appear to be extra chromosome 17 material and this was not good.  This actually meant a very poor, bad prognosis (grim is what I was told).  I was advised to prepare myself that we may not have a baby because our baby may not make it.  Her heart rate may slow down and this will show up one day when I go to the doctor.. so she wouldn't make it then.  The other possibility was that our baby just may not survive the open heart surgery.  The geneticist wanted us to be prepared for what the chromosome 17 could cause and he didn't want anyone to paint a rosy picture of the outcome.  The geneticist also thought that even though the ultrasounds haven't showed any other markers.. we may start to see changes on the ultrasound (no longer growing good, head measurements could change, heart may not grow as well as it had, etc).  This was a VERY sad appointment.  I went by myself to this appointment because I was just going to hear the heart beat so I would be in and out.. why did anyone need to come?... Boy was I wrong...

     So that sad appointment was on a Friday and that Monday I went to the high risk doctor to meet with the cardiologist, high risk doctor, and to get another ultrasound.  My stomach was in knots- would she have a strong heart beat (she did this past Friday at about 141), would she still be growing on track, would her head or brain be growing right- just let me see the baby, turn on the ultrasound machine and let me see her.  So guess what?!?  She was growing on track, measurements matched the due date, weight was good, brain still measured good, heart beat still strong, heart growing, and the only marker still found was the heart.  I was one day shy of 24 weeks pregnant and she was proving some of the theories wrong (except for the heart of course).

     The results for the chromosome 17 test were not back yet (the geneticist had sent this to Seattle for a micro-array study and this was a confirmation of what they thought).  The first meeting with the cardiologist went well and he said yes it does appear to be Hypoplastic Left Heart Syndrome.  He said that she had a strong heart function and the heart growth was good which are positive, strong points when needing surgery.  He drew pictures for us and explained everything.  They will give her medicine to keep a PDA valve (that newborns have) open for the first week of her life. They don't like to do the first open heart surgery until the baby is about 7 days old so the baby has some time to recover from the delivery.  The second surgery would be about 4-6 months later and the third surgery would happen between 2-3 years old.  He also explained that we have two great Pediatric Cardiac Surgeons that would both do her surgeries (they both came from well known hospitals- Boston and Philadelphia).  He estimated that her survival would be about 70% which was 20% higher than what the high risk doctor told us.  We will meet with the surgeons once before I deliver and at the rate we are going.. I bet they say the survival rate is higher.  I have never needed to know anything about the heart or chromosomes before so this is new territory for me (us)- we are learning but it can be sooo confusing.  

     That was a good positive appointment- about time, right?  :)  Then later that week the test results from Seattle came in and they confirmed that our baby has extra chromosome 17 material.  This was heart breaking because they already explained to us what this could mean.  I met with a genetic counselor and geneticist about 10 days later and they explained everything to us.  They went through graphs and charts to explain chromosomes and what this all meant.  Our baby has a Mosaic gain 17q21.31q25.3- makes sense to you, right?  :)  Essentially every cell in your body has chromosomes.  A normal chromosome for a girl would be 46XX (23 chromosomes from Mom and 23 from Dad and XX means girl).  As of right now (based on a chromosome analysis of her skin cells from the amniotic fluid), our baby girl has some 46XX cells and some abnormal cells.  The abnormal cells have some extra chromosome 17 material on chromosome 21.  They estimate that 30-50% of her cells are effected.

     A mosaicism (think of mosaic i.e., mosaic artwork) is when you have some normal and some abnormal cells.  So at our genetic appointment we learned that I needed to give more bloodwork to see if there was cross contamination during the amniocentesis.  What does this mean?  When they did the amniocentesis, did any of my bloodwork/ chromosomes mix in with the amniotic fluid?  If there is a cross contamination this means that the normal cells were mine and that all of her cells are abnormal.  Cross contamination is the worst case scenario at this point.  The best case scenario is that there is no cross contamination and this means our baby has a true mosaicism so she would have both normal and abnormal cells.  The other problem is that with a mosaicism you will not know how the cells are effected- will it be the heart and the brain, the heart and her muscle tone, just the heart, more of her organs, etc.  She can still have severe to profound characteristics with a mosaicism but it gives her the most hope at this point because every cell is not effected.  I had bloodwork 6 days ago and it will take up to 4 weeks for the results.. so now we wait.. and wait.

     I really liked the genetic group that we met as they were very thorough.  Not only have I spoken with the geneticist locally, I have also done some research and contacted a rare chromosome organization in the United Kingdom called "Unique".  We have learned that there is no one else in the world with this exact genetic make up.  Our baby girl has a large duplication and the mosaicism makes it even more different.  There are about five similar cases and the case studies on these were from 1978-1985.  The one similarity about the five cases would be that each child had severe to profound cognitive impairments (so they said if our child had that...she may never walk or talk).  She may have different facial features, she may develop water on her brain, her brain may not grow properly, her body may be asymmetrical, may have a smaller head, may have a smaller stature, shape of her ears may be different, may have a cleft palate, the chest bone may stick out some, etc.  BUT.. they don't know for sure.  They said two people with the same genetic code could be very different.  If it is a true mosaicism then her characteristics could be very mild to very severe.. they just don't know.  Ricky asked what the best case scenario could be and they said she would have the heart condition with very mild cognitive effects so she may live very normal.  The worse would be the severe/ profound cognitive impairments, the above characteristics, the heart condition, and this may mean that she would not be a candidate for surgery.  I was also told that the surgeons would decide if they felt the baby should be put through surgery or not.  If she does not receive surgery, she will not live.  Up until this point I was under the impression that Ricky and I made the ultimate decision if our baby would be put through heart surgery.  So I cried at this appointment again.

     So tomorrow I go for another ultrasound at the high risk doctor and I am officially 27 weeks pregnant today.  I pray for good growth, no markers on the ultrasound except for the heart condition that has been confirmed, a strong heart beat and simply.. more hope!  At tomorrows ultrasound it will be 3 weeks and 2 days since we have last seen her so I am VERY anxious/ nervous.  I know that my stomach will be in knots.  Also, we have had 3 ultrasounds total and we have never received a good profile picture because of the way she is always lying or she puts her hands in front of her face.  They have seen her face but just not one good big profile view.  As of 3 weeks ago her nose and lips looked great.  They also said they would give me a 3d view if she would cooperate and get in a good position.  :)  So I pray for our first profile or face picture too.

     I started this blog because I felt it would be the easiest way to inform everyone of our emotional roller coaster.  We are living with hope but I do have good days/ bad days and good moments/ sad moments.  It is just so heart breaking to hear that your child may not live.  It is also hard to know that you have to help make a decision on whether or not you should put your baby through heart surgery.  There will be guilt if we don't do the surgery because then she will not live- how can anyone decide that??  If you do the surgery but she ends up suffering, having a very bad quality of life, and struggling then you have guilt for what you have put your child through.  This is one of the hardest things that I have been through.  It has now been about 7 weeks and a few days since this journey started... so we now anxiously wait for each ultrasound, each heart rate check, and each phone call because who knows what you will hear from the person on the other end of the phone... and lastly we pray for no cross contamination to give our baby the most hope possible.  
     I am normally very private but this was too much for me to not share with others.  It is way bigger than what I can handle on my own.  I ask for prayers and well wishes for our baby.  I ask that people are not afraid to ask me questions or talk to me about my pregnancy.  I may cry but if I do, it is not your fault.  It is good for me to talk to people.  I just want people to treat me as normal as possible.  I want to live as normal as possible because that helps me get through each day with hope and love.

     We haven't bought our baby anything because I don't know what to buy.  The incision sites on her chest will prevent her from wearing certain things that could irritate her skin or restrictions on lifting her arms up after surgery also prevent her from wearing certain things.  What if we buy a lot and she doesn't make it?  That would be too hard to face.  What if she does make it and we don't have anything for her..then that causes stress?  We believe in our hearts that she will make it but we also know there is a reality that she may not.  It is very heart breaking.

     There are so many unknowns, so many guesses, and such an unknown reality of what lies ahead.  Our kids know that the baby is sick but they don't know how sick she is at this point.  Blake told me today that he told his class that his Mommy is having a baby girl and she is sick.  He also told me yesterday that when the baby is 5 that he will be 12.  Makayla asked me one day if she can teach the baby how to ride her bike.  It is very sweet but heart breaking on the inside too because of the what ifs- what if they can't teach her things, hold her, what if she is never 5... I worry about them and how they will respond no matter how this works out.  Sarah knows the most but she is quiet so I make her talk as much as possible.

     This effects not just us as this effects the rest of our family too because this is their niece, grandchild, cousin, etc.  So we ask for prayers and peace in what will happen.. whatever the road will be.  I will do my best to keep my faith, hope, and love.  I will also try to be as strong as I can for my kids.. all 5 of them.  Thanks for reading..  


Amy and Ricky at Epcot- December 2011

Amy and the kids (about 5 weeks pregnant with baby girl)- December 2011

Family picture at Hollywood Studios- December 2011

Sarah with Pere Noel- December 2011

Ethan and his favorite character Stitch- December 2011

Blake and Pluto- December 2011

Makayla with Rapunzel- December 2011