The 2 week wait

The day that we received the preliminary results was one of the best days of my life.  I suppose that sounds simple and like my life is pretty dull if that was one of the best days of my life but planning for a child with disabilities was a hard pill for me to swallow and then re-planning for a child without disabilities was a roller coaster of emotions.

But of course after the relief settled from getting our FISH results back telling us our child didn’t have trisomy 13, 18 or 21 I quickly realized after doing some more research that this wasn’t over and we still had to wait for the full panel results to know more about this baby.  I didn’t realize that there are so many more syndromes that aren’t picked up with the FISH test and that any sort of deletion of a chromosome would be a problem and that our child could most definitely be born with a disability of sorts.  The more I researched the more scared I became that something was wrong with this baby.  I had no idea how many chromosomal abnormalities there actually are.  It felt like everything I read about chromosome micro deletions caused syndromes.  I finally went on my cleft moms page on facebook and asked the question, “Are any of your kids affected by a syndrome and if so what is it?”  Who knew that clefts were associated with so many syndrome?  When you see a child with a cleft I’m sure you don’t associate it with a disability too.  I sure didn’t.  Many people responded and it felt like every child was affected with some form or another with some sort of syndrome.  I had heard of exactly zero of these syndromes.  I also found out that almost none of these kids just have a cleft.  There is almost always something else wrong like a heart defect or another defect.  I researched every syndrome that the moms told me about and also googled “syndromes associated with clefts” so many times that it made my head spin.  It was all starting to drive me crazy and I mean this in the most literal way.  It was all I could concentrate on.  Every night that Chad got home from work I had a new syndrome to tell him about and why I was certain that our baby had it.  Looking back I don’t know why he came home every night.

The waiting was excruciating and the more I found out about clefts the more anxiety I had about our baby.  I was happy to read that most of these syndromes weren’t fatal and that many people with a lot of these syndromes lead relatively normal lives.  But then again there were so many different forms of so many different syndromes.  I learned that even downs syndrome isn’t always picked up on the FISH results and that there could be a microform deletion on the chromosome that causes downs which just means it’s a less severe form of downs syndrome.  So the worrying continued and was in full force.

I was beginning to question why we even opted to get the FISH test done since, from what I found, it didn’t seem to tell us much.  The FISH test was even wrong sometimes and resulted in false positives and false negatives.  I actually started to believe that the test was bogus.  It was horrible.  Then I would bring myself back out of my downward spiral and remind myself that both the sequential blood draw and the FISH results came back negative so how could two test both be wrong?  But if you google it you will inevitably find that someone out there had both tests done and both tests came back negative but the full chromosome panel came back positive for a microdeletion on chromosome 21 resulting in their child having downs syndrome.  And this is why doctors beg you not to google things once given a possible prognosis.  But I kept at it.  I figured the more I knew the better prepared I would be when the results would come back with a microdeletion of a chromosome.  And if by the shear grace of God the results came back and everything appeared to be normal then at least I would have all this knowledge that I could take with me to nursing school and possibly help people in the future dealing with a similar situation.  I figured it was a win win.

We had gotten the FISH results on Tuesday September 8th.  The amnio was preformed on Friday September 4th.  So according to the doctor our full panel results would be ready 10-14 days after the amnio was performed putting us at getting the results sometime between September 13th-18th.  This meant another weekend of agony waiting on results to come in on Monday and no way of getting a hold of a doctor to answer my obscene questions.  Chad kept urging me to call but I didn’t want to be a nuisance.  I figured they would call if the results were in.  He reminded me again that I’m just another patient and not necessarily their top priority.

Monday rolled around and I figured I’d get a call sometime during the morning.  I waiting with baited breath all day long.  No call.  Tuesday-Friday were the same.  Finally by Friday it had been a full 14 days and I still hadn’t heard anything.  I felt sick but still didn’t end up calling even after my husband urged me to do so so that we weren’t faced with yet another weekend of unanswered questions.  By Monday I was so distraught that by the time I got to class I didn’t think I could take another minute of not knowing the answers to all my questions.  I finally called during my break.

The receptionist answered and I asked to speak to either my doctor or the geneticist about my full panel amnio results.  She asked for my name and then I was put on hold for a long time.  The receptionist finally came back on and told me that I would need to speak to a geneticist to discuss my results with me but that he wasn’t at his desk at the moment.  She gave me his office phone number to give him a call and leave a message.  I was sick.  Why would a genetic counselor be calling me back if there wasn’t a problem?  Obviously they are having a genetic counselor call me back because there’s a syndrome that needs to be discussed with me in detail.  I asked to be transferred and then left a message on his voice mail.  I hung up with more panic than the day I got the FISH results back.  The worse part was that I still had over an hour left of class to go back to.  Needless to say I didn’t take many notes that morning.

Chad encouraged me just to leave and not go back to class but I knew that being left completely alone with my thoughts would be 1,000 time worse than going back into class.  Once class let out I called Chad and just lost it.  I was a mess thinking about what the genetic counselor could possibly tell us.  Chad told me he’d meet me at home after I picked the kids up and told me he would wait with me for the call.

After getting home and after the lunch hour ended at 1pm Chad encouraged me to call again. I was shaking so much that I could barely dial the the number.  My mouth was dry and I felt like I was going to be sick.  I called anyways.  The receptionist answered and I asked to speak to John the genetic counselor.  The receptionist seemed irritated and went to go look for him while I was placed on hold for what seemed like a lifetime.  She came back on and told me she couldn’t find him and then asked me what my name was.  I told her and she went to go look for my results herself.  She couldn’t find them.  At this point all I could think was that this meant that there was something so drastically wrong with my baby that the results weren’t even in yet!!  She told me that John would have to call me back.

After I hung up the phone I was beside myself.  Chad tried calming me down but I was past the point of return.  I had conjured a pretty dramatic story in my head about what was going on with my results and the baby that he couldn’t even listen to me.  Then the phone rang and it was the office.  I knew this was it.  They had our results.  I took a deep breath and answered the phone.  John apologized for taking so long to call me back and explained that my results hadn’t been faxed over yet so he had to do some digging from the lab to get them.  He then went on to tell me that they did an extensive microform array of the chromosomes and that everything came back normal.  Wait…..what!?  Everything was NORMAL!?!?!?!?!?!  I took the deepest breath I think I have ever taken just trying to catch my breath.  I didn’t believe it!  All this worry….for nothing.  I could not believe what this office had just put me through.  John explained that in the notes there was also something about an echocardiogram and that I’d need to get that scheduled in the next 4 weeks or so.  I told him that I thought it was completely unnecessary and that I’d like to opt out of it since there was nothing chromosomally wrong with the baby.  He told me that it was a routine procedure with cleft baby’s and highly encouraged me to make an appointment for a fetal echo.  I obliged since it was routine just to check off a box on the checklist.  Plus it was another chance to see my baby girl.  I made the appointment.

The Phone Call that Changed Everything

I listened to the voice message and was numb.  There were actually 2 voice messages.  The first one was the doctor (the female who performed the amnio.) telling me the test results were in and to please give her a call.  The second one was just her trying me back about 20 minutes later before the lunch break.  And she was probably thinking who leaves their phone unattended anyways when waiting for such important results!?  I listened to the messages at about 12:40pm so I knew that I wouldn’t get ahold of anyone until at least 1pm when the office opened back up but I was going to try anyways.  I sank.  My body felt like it could shut down.  I tried calling back immediately but it went straight to the office answering machine.  I felt like time had stopped.  I felt trapped.  I couldn’t breathe.  Since it was the doctor who had called us then the best case scenario was going to be that our child had downs syndrome.  It would be fine.  But the worst case was that our child had one of the other two syndromes and was going to die in the womb or very soon after birth.  We couldn’t go there.  I just knew deep down that it had to be the better case out of these scenarios.  The baby was giving me strong kicks and on the ultrasound didn’t show any other indication of abnormalities associated with downs but docs miss stuff all the time.  They too are only human.

I called several more times, each time becoming more and more panicked.  We saw our neighbor while waiting for the lunch hour to be over and I flooded her with what we knew.  I’m not one to keep anything to myself and after the fact I felt really bad for corning her and telling her everything that we were going through in that exact moment.  I didn’t know what to do and how to make time go by any faster.  I paced and talked to Chad and held back tears and just waited.  Finally at around 1pm the phone rang and it was the doctor.  I too had left several voice messages on their office phone begging them to call me back.

I answered the phone with a very shakey hello. She started the conversation with a very calm “Hi Lindsey, it’s Dr. Swank.  How was your weekend?”.  I replied with a pretty snarky comment about how it was pretty painful waiting around for these results and that we weren’t doing well because we knew that what she was about to tell us wasn’t good.  She seemed confused and then went on to say, “your preliminary results from the FISH test all came back normal”.  We BURST into tears, yes both of us, holding each other and just rocking back and forth and thanking the doctor profusely for calling us and delivery such wonderful news.  In an instant a wave of calm flushed over my entire body.  I felt like I could breath again.  I had never in my life been so scared.  She went onto explain that this preliminary result was a really good sign but that we still had to wait for the full panel results to come back with all the chromosome counts to rule out other syndromes but that these were the big ones and that by this test result coming back normal we had a really good chance of the full panel coming back the same.  The full panel results wouldn’t be back in for another 10 or so days, maybe 14 so there was still more waiting but at least the fatal stuff could be ruled out.

Once we hung up we just hugged each other and our children and sighed heavy sighs of relief.  I could not believe that everything was ok.  Now I somehow had to change my entire mindset back to thinking about this baby and how everything in this pregnancy was normal again and that my baby could lead a normal life like her brother and sister.  I realize that not everyone is as lucky as we are.  I then started to feel really bad about the moms that don’t get that phone call with the normal results.  Why were we spared?  It made me even more cognizant of the fact that no one is spared and that we are all equal.  We were just the lucky ones this day and that this could happen to anyone.  I am almost glad we had to go through this ordeal with the chromosomes because it made me so incredibly grateful that this baby “just” has a cleft.  It made me realize that the cleft was such a minor issue in the grand scheme of things.  The cleft was totally forgotten about when we were waiting on these results.  I am not sure that many people who receive news about their baby being born with a cleft also have to go through an amniocentesis but I assure you if these people were faced with what we were, anyone who was ever sad about this diagnosis would be relieved for the cleft if faced with the possibility that it could be so much more.  We didn’t have very much time to dwell on this minor defect.  It’s crazy how much I cared and freaked out and cried the several hours after I found out about the baby possibly having a cleft to wishing hoping and praying that the baby only had a cleft and that we would get to keep this baby.

If anyone out there is reading this who has just been given the diagnosis that your child will have a cleft, know that it’s really such a minor problem.  I know it’s not what you had ever dreamed of for our child and that the diagnosis is a really hard one to digest but know that this cleft is fixable and that there are so so so many pregnancies out there where the parents get news about their baby that isn’t fixable.  Know that it’s ok to have feelings of complete and utter disappointment and ask “why me?”.  Also take time to mourn that so called “perfect image” of the baby you thought you were having.  It’s not easy to hear that something is wrong with your baby even if it is “just a cleft”.  But I also want you to know that this baby is so much more than perfect and you will see that once you hold your baby for the very first time.  You will be glad when the nightmare is over and you can finally see and hold your baby for yourself and stop guessing what your baby will look like through 3D ultrasound images.  You will see that your baby is amazing and then ask yourself why you wasted so much of your pregnancy worrying about what your baby would look like.

This story is far from over though.  Clefts are considered a midline defect so a more detailed ultrasound of the heart would need to take place once I hit the 24 week mark of my pregnancy.  These heart ultrasounds are called echocardiograms.  I was just happy to get the amnio and FISH test results behind me.  Did I mention I was taking A&P II?  Yeah, I could finally get around to studying before failing the class completely too.  But that Tuesday that I got those results was used for celebrating, eating, calling people with updates, texting, and being so so grateful for everything I had that day.