Do you know what SMA is?

No

Neither did I

Until I heard Abigail’s story from her amazing mummy, Amy

Please read this heartbreaking account of a life all too short

A baby taken far too soon

Then find out all you can about SMA

Our 2nd child, a daughter Abigail Sheila was born on April 8th 2013 weighing a whopping 10lb 13.5oz after a lovely empowering water-birth. I remember the evening she was born when everyone had left, despite being shattered I could not stop looking at her. I was a mummy to a beautiful girl, who we’d be taking home the next day to meet her big brother. I felt like the luckiest woman alive.

We first realised things were not quite right with Abigail when she was 3 weeks old. She was breastfed. She would latch on feed for a minute or so then come off crying. I am an experienced breastfeeder having previously fed my son for 17 months and I’m a trained breastfeeding peer supporter and I knew something was not right. This scenario of latching-coming off crying – falling asleep got worse as the weeks went by. At 1st I thought colic, fast letdown, an intolerance to something I was eating. Nothing made an iota of difference and some days she was going 5/6/7 hours without a proper feed. Over the next 8 weeks her weight plummeted and she crossed 4 centiles. After losing weight 2 weeks consecutively I was told to take her to our local children’s ward to be assessed.

At the children’s ward a lovely Dr came in and watched me attempt to feed her and asked to examine her. On examining her he asked had we ever noticed she was rather floppy and was unable to hold her head up. I said yes but people kept reassuring me she would do stuff in her own time and to stop comparing her to her 2 year old brother who did everything early. The Dr said she was not reaching the milestones expected of a baby her age and he would like to admit her.

We were in hospital for 4 days. In this time Abigail was diagnosed with Hypotonia (low muscle tone). This explained her inability to breastfeed she did not have the strength within her jaw and tongue to feed efficiently so we agreed to begin to bottle feed which was easier for her. Also whilst there they ran lots of tests. All came back clear but we were told genetic ones would be a few weeks.

After getting out of hospital Abigail took to bottle feeding brilliantly a mixture of my milk expressed and prescription formula meant she piled weight on. Her muscle tone however seemed to get worse.

On the 7th August we attended a follow up appointment to get the results of the genetics test they had done in hospital. We were by this time prepared for a child with a disability but nothing on earth could prepare us for what we were about to hear.
At the follow up appointment our Dr told us that Abigail had a condition called Spinal Muscular Atrophy (SMA) that the most severe type was found in babies under 6 months (Abigail was 4 months old ) that babies with SMA would never have head control, never sit up, crawl or walk. SMA is a neuromuscular condition that makes the brain fail to send to signals to muscles causing them to waste away (atrophy) that eventually she would lose the ability to swallow. He told us the biggest muscle in the body was the respiratory system and most babies with SMA 1 die from respiratory related illness before they are 1. I just remember looking at my smiley gorgeous baby and wanting to scream ‘NO YOU MUST BE WRONG’.

Afterwards our lives became a whirlwind of appointments! Physio, Occupational Therapy, Speech and language therapy, Health visitor,2 Neurology teams, community children’s nurse. Looking back I don’t know how we got through. How do you get told your baby won’t see her 1st birthday and just go get on with life?

We decided to make the most of everyday. On 8th October when she was 6 months old we threw a huge party for her ‘Half birthday’ . It was a lovely day and evening. I remember saying to my best friend at least we got to sing ‘Happy Birthday’ to her at least once she replied ‘we’ll sing it again in 6 months’ and I truly believed we would.

However it was not to be.

Around the beginning of November Abigail once again begin to have trouble feeding. She was taking anything up to 40 mins to finish 4oz of milk and we saw a huge increase in the amount of oral secretions she has which we could not control with suction. By the middle of the month my partner Dan and I resided ourselves to the fact that Abigail’s swallowing reflex was starting to Atrophy and arrangements were made for us to attend hospital for Abigail to have a Nasal Gastric (NG) feeding tube fitted and for Dan and I to be trained in how to administer feeds that way.

On Nov 19th we attended hospital for that NG training. However things did not go to plan. It turned out as well as losing her swallow reflex Abigail tested positive for RSV – The common cold. She did not respond well to NG. At some point during our initial stay she aspirated some saliva and because of the weakness in her lungs caused by SMA it caused pneumonia.

We were transferred to a more specialist hospital 20 miles away and Abigail spent 3 days and nights on a ventilator in intensive care very very poorly. We were told she may not survive. However my beautiful girl rallied. Her strength astounded me. There were some patchy moments but over the next 3 weeks she went from strength to strength and we even started to plan for a Christmas at home.

However in the early hours of Thursday 5th December Abigail got into difficulty with her breathing and a chest x ray revealed her lung had completely collapsed again we were right back where we started almost 4 weeks before. When Abigail came out of ICU Dan and made the hardest decision of our lives and put a ‘No invasive treatment’ plan in place which meant if Abigail deteriorated again we would not go to the lengths we had previously as we felt it would prolong her suffering. With this in mind we decided to transfer from hospital to the wonderful Forget Me Not Children’s Hospice for end of life care.

At 2.27pm the following day our beautiful brave bouncing baby girl succumbed to the battle she fought so hard but was never going to win and passed away in our arms 2 days short of being 8 months old.

Part of me died right there and then. Part of me wanted to follow her. Some days I can not believe this has happened to my family. That that beautiful sunny day last April I was oblivious to all that lay ahead.

SMA is caused by a faulty gene. When 2 people who carry the faulty gene come together there is a 1 in 4 chance of every pregnancy they have having SMA.

It is thought that 1 in 40 of the UK population carry the faulty gene that causes SMA. Dan and I never knew we carried the faulty gene until Abigail was diagnosed and it was too late. Do you?

Not a minute of the day goes by when we don’t think of her and miss her. I wonder everyday what she’d be like now.

I miss you! My Blueberry Girl.

All my love
All my life

Mummy.xx