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Gone too soon - Elsa

“After our first daughter was born, we decided we would like a brother or sister for Olivia and in November 2013 we were delighted to find out that I was pregnant and that Olivia was going to have a sister.

My pregnancy was anything but normal. In early 2014 during a routine scan, the sonographer thought that they had identified a hole in our babies heart and we were then referred to St James Hospital in Leeds to see their specialists but thankfully they could not find the suspected hole and gave the all clear.

Whilst I was pregnant with Olivia I developed preeclampsia and once again the condition returned during my second pregnancy, although not quite as severe as this time around as I did not need to stay in hospital prior to giving birth. It still had to make several trips a week to the hospital to monitor the condition and on Monday 23rd June 2014 I was induced at 37 weeks.

Elsa Lily Mayor was born at 9pm on Tuesday 24th June weighing just 5 pounds 6 ounces.

The first few months of her life were normal for Elsa, she progressed well drinking her milk, sleeping through the night at just 9 weeks old and was starting to support her head her little. So we had little reason to think anything was wrong.

Elsa developed a belly button hernia but when we took her to our GP, he didn't think it was an issue even though it was the size of a table tennis ball. He said it was common and that if it bothered Elsa when she started school then they may look in to an operation at that time. We were not happy with this diagnosis and asked for a second opinion, which meant our first trip to Sheffield Children’s Hospital. When Elsa was examined there, they initially came to the same conclusion but then they discovered a second hernia in Elsa’s groin and one of her ovaries was poking through it, so an operation was required to save her ovary otherwise it may die.

Elsa’s operation was on the 27th October 2014 and both hernias were fixed at the same time but I had no idea about her condition at this point and if I had then I may not have put her through this ordeal.

At the beginning of December 2014, Elsa started to struggle to breathe and she was rushed in an ambulance to Rotherham General Hospital where she was diagnosed with Bronchiolitis.  Her condition was so severe that she needed to be ventilated but unfortunately Rotherham Hospital cannot care for ventilated children and all the Sheffield hospitals were full, so Elsa ended up at Nottingham Queens Hospital. She stayed there in intensive care for 4 days but then returned to Rotherham Hospital for 3 further days once Elsa was off the ventilator, before finally coming home on Monday 8th December 2014.

At this time, Elsa regressed in her movements and she could no longer hold her head up and she was not making any attempt at rolling or crawling, despite being 6 months old, but the Health Visitor said that this will have been due to the bronchiolitis and the extended stay in hospital where she couldn’t move about. I had huge reservations about this diagnosis and I was sure there was something more serious, but I had to listen to their experience.

On New Years Day 2015, Elsa started with a chest infection and after seeing our GP she was given some antibiotics but within a week of finishing the course, she had another chest infection. When she then had a third chest infection before mid February, our GP raised concerns and had Elsa referred to Rotherham Hospital for tests. A couple of days before our appointment however, Elsa went through a brief period of breathlessness and she ended up at the hospital for a few hours of monitoring and a chest X-ray. After several hours of no further issues she was discharged.

When we saw the doctor about Elsa’s breathing problems, he noticed that she had a lack of muscle strength and immediately requested some blood tests. It was at this point that he asked me if I knew Elsa had a partially collapsed lung as the X-ray from our visit a few days previously clearly showed. We had not been informed about it at the time. The blood tests would take several weeks to produce any results so we once again went home.

Whilst waiting for the blood test results, at the very end of February 2015, Elsa had further breathing problems and was blue lighted in an ambulance to Rotherham hospital in the early hours of the morning. At this point we met a great consultant called Dr Christine Harrison who referred us to a specialist at Sheffield Children’s Hospital called Dr Christopher Rittey. Dr Rittey almost immediately diagnosed Elsa with Spinal Muscular Atrophy (SMA) type 1.

SMA is the childhood version of Motor Neurone Disease and type 1, the most severe, gave Elsa only a 10% chance of living beyond her second birthday. SMA is the biggest genetic killer of under 2s in the country. There is no cure and at the time there was no treatment either. To say our world fell apart around us would be an understatement. I had my complete family but now I knew that it could be torn apart within a matter of months.

Despite the best efforts of the doctors, they could not fully reinflate her collapsed lung but, after 2 weeks in hospital, Elsa was discharged on my birthday on March 14th and in time for Mother's Day which was the following day on March 15th. These were two very special days for me that I still hold very dear to my heart, I had my complete family around me for two very important dates.

On Monday 16th March, Elsa again suffered breathing difficulties and this time ended up in intensive care at Sheffield Children's Hospital. Both my husband and I wanted to be with Elsa as much as we could as we both knew her time was short, but we also had a school age daughter who needed us and we are both extremely grateful to Grandparents who stepped in at that time to look after Olivia. I can never get back the time I should have had as a family but instead was spent in hospital with just one of my daughters, but it was a decision I would make again if required and the support of Grandparents or close friends permitted it..

Near the middle of April we were informed that there was nothing more that could be done for Elsa and that care would switch to palliative. After the devastation of finding out that Elsa’s life would be cut short by SMA, we were now told she had just weeks or even days to live. At that point I just wanted to get my baby home and to make the most of the time we had left, to make memories and to try to be a normal family for a little while. We made plans to go to the seaside as Elsa had never seen the sea, and also to visit the local wildlife park so she could see the lions and polar bears that live there.

On Friday 17th April 2015 we travelled to Bluebell Wood Children's Hospice for a few days to learn to care for Elsa and adjust to life outside of the hospital. After 4 weeks in intensive care, I hadn’t had the opportunity to just be a parent and everything I knew from raising Olivia would need to change. Learning how to feed through a nasogastric tube, how to use a suction machine to clear away saliva and mucus from her mouth and throat and also how to support her already weak arms and legs to prevent further damage to her bones and muscles. Bluebell Wood is an amazing place, full of amazing people who support amazing children and their amazing families during the worst possible times. I feel honoured that Elsa spent some time there and she loved it.

After an amazing weekend at Bluebell Wood, and feeling better for making several great memories with Elsa, we were due to travel home on Monday 20th April 2015. Unfortunately Elsa decided that she liked the hospice that much that she didn’t want to leave and she struggled to breathe one final time. After several hours, my husband and I decided that she had suffered enough and that Elsa’s breathing aids should be turned off. Elsa smiled one final time and passed away peacefully in her daddy’s arms.

It took a little while for me to come to terms with the loss of Elsa. I had counselling for some time, as did Olivia who was openly talking about death at school. It soon became apparent that Olivia needed another sibling to help with the grief, so in January 2017 her baby brother, Noah, entered the world. This pregnancy was almost as hard as living with Elsa’s diagnosis due to the fact that my husband and I are both carriers of the SMA genetic condition (or more accurately we both carry only one SMN1 gene instead of two). This meant that I had to go through CVS to extract DNA from our unborn baby, a painful procedure in itself that carries the risk of miscarridge, and then going through the anguish of waiting two weeks for the results to confirm whether Noah was clear of SMA. Noah is clear of SMA and he has helped to heal the open wounds in our family, although he will never be able to remove the scars.

Since Elsa passed, I have been very happy to hear that a treatment has been found which improves muscle strength in most cases and has even been known to allow some children to begin walking who couldn’t before. This is not a cure, but it is a step in the right direction. The treatment is called Spinraza and earlier this year it was approved for use in the NHS under a Managed Access Agreement. I wish this treatment had been around when Elsa was diagnosed, however I am hopeful it will prevent the heartbreak in other families that we have suffered in ours.”