My Introduction to Trisomy 18

"I'm sorry Mrs McKay, your daughter is Trisomy 18"

These were the words ringing in my ears from the head of the genetics team.

I sat there with a blank look on my face. They knew I didn’t have a damn clue what they were talking about. They may as well

Brennagh 4 Days Old

have been telling me the mechanics of my car’s engine, and like I cared anyway! My daughter had already survived being born 3 months premature and doing all the horrible things that premature babies do. How bad could it be?

We’d not long been sent home and she’d failed to grow. Brennagh was always vomiting, was losing weight and after close scrutiny it was realized I wasn’t neglecting or starving my girl on purpose. That in itself for any decent parent was humiliating.

After months of dealing with the issues of prematurity, that statement was just another string of words from yet another medical professional.

That was until I was slapped into reality by the cold of hard facts of the genetics tests!

A quick course ensued on the bio-mechanics of chromosomes and DNA and then the onslaught of psychological kicks to my face and stomach. I thought the barrage of the implications of this ‘horrible’ condition was never going to stop. They were still ongoing long after I had switched off. Must be the hardest thing for a parent I tried to tell myself, trying to distance myself from this conversation….

“Your daughter’s 18th chromosome has triple,”  being biologically challenged I thought so what….”we did numerous tests which were all conclusive, every one of Brennagh’s cells carry the  T-18 chromosome. This means she’s incompatible with life.”

It made no sense to me, she’s been alive and living for the past 5 months, how does that make her incompatible with life? 

I sat there nodding while the words tried to sink in…..incompatible with life…….   “what do you mean incompatible with life”, “I don’t understand”…..The first question out of my mouth, and sounding like the desperate mum I was, I blurted out  ”Can you fix it?”. “Sadly , no” was the reply, “there is no cure”. “Well” with more desperation, I said, “she’ll grow out of it, right?” “Sorry no, it’s imprinted on every cell”. About 1 in every 5,000 babies is born with trisomy 18, and most are female.   The condition is even more common than that, but many babies with trisomy 18 don’t survive past the second or third trimester of pregnancy.

Sitting there in absolute shock and feeling like a complete dummy I asked, ” What does that mean for her having children?” I really wasn’t thinking straight and all the questions I could’ve or should’ve asked eluded me. These were experts in their feild, I was a nobody…..just a mum….and that’s all I wanted to be. I wanted this nightmare to be over and I wanted to go home to be ‘just a mum’. “We’re sorry Mrs McKay, Brennagh won’t ever be able to have children”. I was shattered, my world was crumbling around me. Wasn’t our trial with pre-maturity over? Were we even close to going home like normal people and bringing up our children like normal people? I didn’t want to do this, I wanted to scream! “It’s not fair, why us, what the f@*k did I do wrong???”

“You didn’t do anything wrong Mrs McKay, it’s just one of those random things.” None of it registering deeper than the speed of the questions coming to my mind.  They continued, “she doesn’t have many of the usual features…..”

Babies with trisomy 18 are often born very small and frail. They typically have many serious health problems and physical defects, including:

• Cleft palate
• Clenched fists with overlapping fingers that are hard to straighten
• Defects of the lungs, kidneys, and stomach/intestines
• Deformed feet (called “rocker-bottom feet” because they’re shaped like the bottom of a rocking chair)
• Feeding problems
• Heart defects, including a hole between the heart’s upper (atrial septal defect) or lower (ventricular septal defect) chambers
• Low-set ears
• Severe developmental delays
• Chest deformity
• Slowed growth
• Small head (microcephaly)
• Small jaw (micrognathia)
• Weak cry

Up sprang another dumb question, ” will she walk?” I was clutching at straws, clutching at anything that would give me hope…hope for some sort of life…..I should have known they were giving me all the hard cold facts….the worse case scenarios…but I was just a mum, how could I even comprehend anything they were saying….All I heard was doom and gloom, then death. And never knowing when that death was coming to knock at my door.

I didn’t want to do this. I didn’t want to plan a funeral for a beautiful baby girl I had barely time to get to know. I didn’t want to be robbed. They must be wrong….surely? I can’t do this….I WON”T do this!

“We’re sorry Mrs McKay, Brennagh will never walk….” that was the point where it was just too much for me. I stood up crying, I needed some air, I needed to get away, I excused myself and said I’d be back in a minute.

I was in a fog…. I went outside, all I could think was I was in a dream, I’ll wake up soon, I’ll go back in and they’ll tell me it will be ok. Everything will be ok.  I went back in still not knowing how real this all was.

I sat, and they continued!! I couldn’t believe it! There’s more? Hadn’t they told me enough already? What are you trying to say? “She shouldn’t be here”, “you’re very lucky she made it this far.”  Are you kidding me?? “Brennagh won’t crawl, she won’t walk, she won’t talk, she won’t do anything, she’ll be a vegetable for the rest of her remaining life”. “The best thing you can do Mrs McKay is take her home and make the most of the time you have left. You’ll be lucky if she makes it to one”.

After that I was in complete shock. I remember a quick transfer back to our primary hospital being made. I couldn’t breathe, I couldn’t look at my baby without thinking they’d made a mistake then thinking what if they’re right, should I get too attached? How could I not I already loved her more than life itself. I was messed up something ferocious! I wanted out of there and fast!

I remember hearing a plan had been tentatively put in place for Brennagh’s funeral before we’d even arrived back home! I was wild beyond words regardless that it may be our tribal ways although I didn’t give a flying spaceship! How dare anyone tell me to be prepared to lose my precious baby girl! HOW DARE ANYONE!  I wanted to scream and scream and scream!!!!

Flying Home

We were waiting to be transported by ambulance back to our primary hospital however we were fortunate enough to be flown home by our Westpac Rescue Chopper. This meant we could fly in, be met by my family and then whisked away to safety. I didn’t have the time or the inclination to discuss my daughter’s pending death with anyone. I wanted to be left alone.  Left alone to come to terms with having only a couple of months if that left with my daughter. I was finished talking or rather listening. I was done.

Back on the Ward

We weren’t able to ditch our hospital as quickly as I’d planned. We were wanted on the ward as we were still patients on transfer, not discharged. So the family and I hit the children’s ward. “Mrs McKay, we’d like you to stay so we can put a feeding plan into place so you’ll need to stay a couple of days.” Brennagh was naso gastric fed, a line through her nostril to her tummy. She’d failed to thrive due to her trisomy and someone thought we’d be happy to sit around until someone figured it out so we could go home. Were they kidding?? I was ready to tear someone’s head off. I couldn’t believe the anger I was feeling and it just continued to build, I had to get out of there.

I decided with or without a feeding plan I was out of there and they best make their plan fast as I was leaving with my daughter, end of story.

And so it was….Brennagh and I were taken to the beach by Brennagh’s father and brothers where we took time out for the weekend to soak up all the information , swinging between fact and denial, trying to make our own plan.

And our plan had nothing to do with being ‘incompatible with life’, it was learning to live a full live with trisomy 18.

Author – Kathleen McKay