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.