Rachel’s Story

July 8, 2016

It’s the day we have been waiting for. I had been induced two days prior due to high blood pressure, but today will be the day we meet our baby. The little baby we have been so desperately trying for for the past 3 years.

We had our first child five years earlier, a healthy (big) baby, Ella-Rose. She has been desperate to become a big sister for as long as I can remember; blowing out birthday candles and wishing for a sibling that she could love, cuddle and feed. Today was going to be that day, except it was going to be a little different to how we had all imagined…

Just after 10pm, our 8lb 2 baby boy was delivered, placed onto my chest, and I leaned down and kissed his head. I still remember exactly how this felt, my lips touching his cold, wet skin.

I looked at him, and as much I hate to admit this, my heart sank. I knew instantly something was wrong; he just didn’t look right; that tiny little jaw was set so far back that I just knew from that moment. He made no attempt to feed from me, something I had spent hours in my job helping other mums to do; I was determined I was going to breastfeed this time around.

I asked my midwife what was wrong with him and was reassured he was just swollen, but soon it was obvious she had her concerns too. By this point equipment was coming in, they took Harvey to check him over and I saw her face change as she glanced to another member of the team. She can see what I see; she knows there is something wrong with that jaw, I thought to myself, not realising at this point she had discovered a cleft palate.

The rest is all a blur, doctors came in and told us they were sorry, our baby has a recessed chin and missing palate and he needs to go to special care.

A few hours have passed and we can now go and see our baby.

Guilt is all I can feel right now. Why my baby, what have I done wrong? I didn’t drink, I didn’t smoke, but what if everyone else thought I had? What if it was my fault? I had fallen down the stairs at 29 weeks pregnant and needed surgery on my leg – was this down to me? What does this mean for my baby?

My mind was filled with questions, my body with guilt, but my heart was filled with love. Either way, this was my baby, and he was perfect to me.

I couldn’t sleep that night, I googled recessed jaw and cleft palate, and that’s when I had the diagnosis. Pierre Robin Sequence.

Doctors confirmed this the following morning.

He had a feeding tube and was connected to different machines, machines that would alarm every time we cuddled our son. His small chin meant that he would cut his own air supply off as his tongue would fall to the back of his throat meaning his oxygen levels would instantly drop.

We spent 4 weeks in our local hospital before being transferred to Bristol children’s hospital; we could see specialists here, people who understood our son’s condition.

He was soon fitted with a nasal pharyngeal airway, a small tube passed down one nostril which would keep his airway clear and prevent the tongue from falling back. We spent the next few weeks learning how to care for him, suctioning and changing the tube. Expressing milk and feeding him via his nasal gastric tube every three hours.

This wasn’t what we had planned, but this was how it was going to be.

We tried small amounts of milk in squeezy bottles, but he never really got the hang of this. He spent the first 10 months in and out of the hospital with repeated chest infections, and after a swallow x-ray was performed it was decided it was in his best interest to stop oral fluids.

As he grew so did his jaw, and by 7 months old, he only needed the airway at night. A few weeks later, we were able to remove this completely. The NG tube was replaced with a gastrostomy, a small tube directly into his stomach to make feeding easier.

He gained weight, got stronger and in May this year, he had his soft palate repaired. He has one more operation this year to fix the hard palate, but I know he will sail through this, just like everything else.

Genetics testing has been done and so far, so good, they cannot find any other related syndromes or conditions, and they don’t know what has caused it.

It’s not been easy, but it’s been more than worth it.

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