Cystic Fibrosis, an illness I was familiar with through my work as a nurse. I had cared for many patients with CF yet like most nurses I never thought I would be personally affected by the illness. It's like anything really, you never think you will be affected by something until you are sitting there with it staring you right in the face like Hey! This is YOUR problem now.
There I was sitting in the doctors office 26 weeks pregnant being told my baby had a 50/50 chance of having cystic fibrosis. In my heart I knew the truth. From the beginning of my pregnancy I knew that something wasn't quite right, motherly instinct perhaps? This is the point it hit me and I started to think oh shit this is really serious.
Lets start at the beginning, I had my routine 19 week ultrasound on my 23rd birthday. What could be a better present than seeing my baby? I was on top of the world, as high as a kite. Feeling healthy, beautiful and so happy with my life. I announced my pregnancy on Facebook with an ultrasound picture of our unborn baby and a picture of my belly with my new bike I got for my birthday. I absolutely loved every single comment of congratulations I got. Life couldn't get any better than this! We were recently married, I was studying midwifery and would be finished in time for the baby's arrival and we had just bought a house which we were madly renovating.
The following day I was spending time at our new house and keeping my husband company (HA!) as he worked on our renovation. I stood in my soon to be nursery, talking to my baby about all the important topics...colour schemes, where the cot would go etc! On the way home I had a few missed calls from my GP. I pulled over, puzzled I listened to a voicemail message left by the practice nurse. "....the doctor needs to speak to you regarding some problems with your ultrasound...please call immediately....need to see you ASAP" I felt ill, I felt physically sick. I never experienced morning sickness but I instantly felt a huge wave of nausea come over me. I called back straight away and spoke to the nurse, asking if this was routine. The response I received was one that no one wants to hear. No pregnant woman or nurse that's for sure! "...Oh no this isn't normal..um...well...theres a problem with the bowel...its all written in medical jargon that I don't understand, the doctor will talk to you about it..have you made an appointment for ASAP?"
I called Ian straight away and I'm sure I made no sense but made my message pretty clear THERE'S A PROBLEM!! In his usual manner he peeled me off the ceiling, I had never been so anxious. That anxiety never passed. The day of my birthday on the 13th of August 2013 was the last time that I was anxiety and worry free. Since that phone call I can honestly say that I haven't ever recovered, I've never felt that extreme happiness like before. The rest of my pregnancy while it was a really happy time was filled with a whirlwind of emotions and we were truly devastated, mourning for the loss of our baby's health.
The following day we went to the GP, we left feeling more confused and emotional than when we went in! I think the doctors understanding of a fetus having an echogenic bowel was about the same as mine - no idea, but it sounded BAD! We were referred to the main maternity hospital for follow up scans and review. The way home from the doctors I cried and cried. I mindlessly googled trying to gain some understanding. I didn't stop crying until my midwife came over that evening and we all talked about it together. I felt so much better having her there reassuring me and explaining things.
The following months were filled of ultrasounds every few weeks. I was reassured by the specialist about the echogenic bowel. An echogenic bowel is when the bowel of the fetus appears brighter than the rest of the body. This is considered a 'soft marker' or indicator for complications including metabolic diseases like cystic fibrosis, down syndrome or conditions like a meconium blockage, twisted bowel etc. The specialist told us that echogenic bowels were common in their daily clinics and rarely resulted in anything significant. I began to feel as if maybe I had been overreacting. We went sent for blood tests to find out if we were carriers of the cystic fibrosis gene.
At 26 weeks of pregnancy the results came back that we were both carriers of the CF gene. The doctor told me the news and waited for my response, "how are you feeling?" she asked me. I laughed, I didn't know I was in shock. I went to my car and did what anyone would do when they just found out some horrific news. I called my mum and cried buckets!! Then I called Ian and cried some more! "Just come home babe..." I began the longest journey of my life home which included sitting outside the children's hospital where I had worked years prior, Ed Sheeran's Small Bump song came on the radio. I was completely devastated looking up at the hospital, bawling my eyes out. I knew I was going to be spending a lot of time there in years to come. I got home and told Ian the same thing, he reassured me that we wouldn't need to go there. We had a 50/50 chance after all.
Find the diagnosis part 2 here.