Natalie’s experience of having a baby diagnosed with MCADD

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In the UK, we offer a screening test to all newborn babies at around 5 days of age. This is to detect a wide range of rare illnesses that aren’t always apparent at birth. When they are detected early, life saving treatment and care can be given.

MCADD is a rare genetic condition where a person has problems breaking down fat to use as an energy source. Someone with MCADD can become very ill if their body’s energy demands exceed their energy intake, such as during infections or vomiting illnesses when they’re unable to eat.

Natalie shares the birth of her first child who was subsequently diagnosed with this condition.

Hi my names Natalie, I’m 31 have 3 children and currently 32 weeks pregnant with my 4th.

This birth story is about my first daughter Bella. Bella was born on 25th April 2011. I fell pregnant with Bella 4 weeks after suffering my first miscarriage at the age of 20.

My pregnancy was straight forward, we had our scans as 12 and 20 weeks and all was looking well, I didn’t find out the gender as I wanted a surprise.

At around 23 weeks I began to develop symptoms of pre-eclampsia, I had elevated blood pressure and my hands and feet were swollen.

At 26 weeks my midwife sent me for a growth scan to check all was well with the baby, as my blood pressure was still high, the oedema was getting worse and I had started to see flashing lights too. They confirmed that all was well with the baby and I was sent home.

The oedema was that bad that I remember it being Jan 2011 and it had been snowing since Christmas, I was working in a nursery at the time and could only wear flip flops as my feet were too swollen for any other shoes, I was walking in the snow in flip flops.

At 34 weeks my midwife sent me to the hospital with severe pre-eclampsia. I was seen and monitored and kept in hospital for 3 days. I was sent home and had to go back every other day further monitoring and tests.

On Tuesday 18th April I was 35weeks +1. I was sent for a growth scan which showed that the placenta had slowed down, and my baby wasn’t getting what she needed. They informed me that she was only measuring to be around 4lb 2oz. That night I was given a sweep and sent home to rest. Nothing happened.

On Thursday 20th April I was back in hospital for monitoring and another sweep was given, they scanned Bella and said the placenta was functioning on less than half of what it should be and showing signs of resistance. I was again sent home and told to go back on Sunday 24th April to be induced.

On Saturday 23rd I lost my show but nothing progressed.

9am Sunday 24th I went into hospital the be induced, I was given a pessary and told to walk around and relax and they would check me in 12 hours. The pessary had only progressed me to 2cm and I was put onto the hormone drip of Syntocinon to help move on labour.

The drip sped up labour and they were monitoring Bella’s heart rate, however I kept getting off the bed for a wee. My midwife advised I had a pethidine injection to help ease the pain and relax my body to enable labour to continue. I agreed and it helped a lot.

They midwife broke my waters around 2am on Monday 25th April. There was meconium in my waters, but the midwife didn’t seem phased by this.

Labour progressed from here and with the help and support of my mom, Isabella was born at 5:24am on Monday 25th April weighing 6lb 15oz, a huge shock to everyone as we thought she would be smaller. Even though she weighted a good weight she was very tiny and still had to wear tiny baby clothes for months after.

After birth Bella was very quiet, midwife said she was fine and I was taken to postnatal. I attempted to breastfeed Bella but I felt she wasn’t latching on or getting enough milk. Over 2 days several midwives reassured me and encouraged me to keep continuing with the breast feeding as it was what was best for her. At 21 years old I took their advice and carried on even though I felt unsure but I felt like the midwives were trained and new better.

Bella was now 3 days old and was still yet to open her eyes, I wasn’t aware that this was a concern. Around 9am on Wednesday 27th April the paediatrician came in and did his checks over Bella, I sat and watched him prise her eyes open, check them with a light and place a black tick in the box in her red book stating all was well. A few hours later Bellas dad arrived, I remember saying “she’s very sleepy all the time and doesn’t cry as much as the other babies” I was in room with 6 other new moms.

He picked Bella up and she was lifeless like a rag doll. He placed her back down and pressed the emergency button, within minutes there were 4 midwives and 4 doctors around her, they placed her into an incubator and wheeled her away.

I was left sat on my bed, crying and unsure of what was happening. I was then moved into a private 1 bedroom as “I didn’t have a baby it would be easier for me”. I asked the midwife if she could check on my daughter she agreed. 2 hours later I was still left waiting.

Bella had been taken to the neonatal unit and was having tests. They placed drips into her hand, and she did not move at all. I will always remember the Dr telling me “If it has been any longer, we would have lost her”. I got to see her. My tiny baby in a little box. I was devastated and blamed myself.

There was a lovely lady who helped me express and feeding Bella and within hours Bella opened her eyes for the first time. I was offered support from the neonatal team and I couldn’t have thanked them enough.

Further tests couldn’t find a reason as to why Bella was lifeless and as she had improved, we were sent home on Saturday 30th April. The midwife arrived on the Sunday and took bloods, checked her over and was happy.

The test was the heel prick test the do for all babies at 5 days old.

It was Monday 1st May and I felt happier, content and more relaxed then ever. I had moved onto combination feeding as the midwife supported my choice.

Tuesday 2nd May I received a phone call. It was Birmingham Children’s Hospital and they said “Hello, are you home?, its Rachael from Birmingham children’s hospital and we need to come see yourself and Isabella as there’s a development with her heel prick test. We will be with you in half an hour.” I spent the next half an hour crying and thinking why was this happening to me.

Bella was diagnosed with MCADD – Medium Chain Acyl CoA Dehydrogenase Deficiency. This is a rare genetic condition where a person has problems breaking down fat to use as an energy source.

I spend day, weeks, and months on very tight schedules of 2 hourly feeding. I moved onto formula shortly after getting this diagnosis for Bella as I believed I could monitor her intake and she adapted better on a bottle to any time she was breastfed.

We see BCH yearly and she has open access to the ward in our local hospital meaning there is no wait times should she need to be placed onto a drip during illness.

Bella will be 10 in April 2021, she is thriving in life and is very wise to her condition. She knows her limits and will be the first to point out if she’s missed a meal, not eaten enough or even feels unwell.

For more information about the newborn screening programme, visit https://www.nhs.uk/conditions/baby/newborn-screening/blood-spot-test/

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