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The Annabelle Rose Foundation for Spinal Muscular Atrophy

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annabelles story, as told by mummy.....

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Annabelle Rose Burfitt was born on 18th January 2008 at 20:16pm after a very long labour! She was mine and Wayne’s first baby and meant the world to us.

 

Annabelle was the most perfect baby – she was truly beautiful. Her skin was flawless, her eyes huge and sparkly – she couldn’t have been prettier if she tried.

 

When Annabelle was 6 weeks old our health visitor noted that she wasn’t holding her head. I can honestly say I thought nothing of this at all! Like I said, Annabelle was my first baby therefore I had no one else to compare her to. I assumed she was a little lazy. At her 8 week check with the GP I mentioned this to the doctor. She didn’t seem too concerned either but said she would book me an appointment with the pediatrician but there was a 6 week wait! That was fine – I thought by then she will be holding her head anyway.

 

When Annabelle was 10 weeks old we took her to Mallorca to stay with our friends who also had a new baby, Maisie; she 3 weeks older than Annabelle. The first time I held Maisie I thought there was something not right with her! This baby was 13 weeks and could take her weight on her feet and danced around! Annabelle wasn’t like that at all – it never occurred to me that it was MY baby that had the problem.

 

A few days after we returned to England we were at my Nan’s house. I picked up a magazine and started flicking through – then I came across it. The story which changed my life forever – 'She couldn’t lift her head' – this was the story of a little baby girl who, just like Annabelle, couldn’t support her head. This baby had a terrible illness called Spinal Muscular Atrophy type 1. There was a little box on the article with tell tale signs of sma 1 – frog like legs, sunken chest, head to one side – this was Annabelle. I took the article home, I was a mess! I researched SMA on the internet and it was obvious that was what Annabelle had. I looked at photos of babies with type 1 – they were all so strikingly similar, their eyes, their smiles, their heads, their hands turned outwards, their legs were like frogs legs – the worst of it was most of them didn’t reach their first birthday! I spoke to my friends and family and everyone thought I was completely over reacting – but I knew the truth.

 

The next day I made an appointment to see my GP. I said to her that I wanted to see the pediatrician sooner but she said it wasn’t possible! I said I thought Annabelle had SMA type 1 but the doctor didn’t seem to worried about it, she just said well if you can cope with that then that’s ok then! But I couldn’t cope with knowing my baby may die in a few months!

 

The next day my health visitor called me, I was beside myself. She explained that she had seen my GP but the GP hadn’t realised what SMA was. She then arranged for me to go back the following day. The next day was the Wednesday, I took Annabelle to see her once again and she said that I may be able to get an appointment with the same pediatrician privately but I would have to pay. That was fine – I just needed to know. She would call me later that day. She did – the pediatrician had agreed to meet me that day at A & E at 4 o clock. Wayne was at work, so was my mum – so my auntie came with me. I remember waiting – it was horrendous. We were put in this little cubicle and my auntie was left outside. The pediatrician started doing little tests on Annabelle – looking for little tell tale signs – he was speaking his 'doctor' language to another colleague and Annabelle was becoming very irritable. He was a lovely doctor and I can still see the sorrow in his eyes as he told me that he was 90% sure that Annabelle had SMA type 1. My whole world collapsed around me there and then. How could this be? My beautiful baby girl was going to die and there was NOTHING I could do about it! No cure, no treatment – just take her home!

 

The pediatrician arranged for us to go to Great Ormond Street Hospital on the Friday for tests which would confirm his initial diagnosis. I knew he was right though; there is no way that a professional would give such a poor prognosis unless he was sure. He had seen it before and it was all too familiar too him. Still – people remained positive with the attitude that doctors misdiagnosed things all the time, sadly for us, not this time.

 

Friday 11th April we took Annabelle up to GOSH for all the tests which would determine whether the pediatricians' diagnosis had been correct. I already knew the answer and I think everybody else knew deep down as well. Annabelle was nearly 3 months old – they said to us that she would probably live until she was 7 months old, there is no cure so just take her home and enjoy the time you have with her.

 

At the time I couldn’t believe that they were just sending us away and were going to just dismiss my daughter’s life like that! I had to do something; there must be something that I could do to save her! I had to try – if I didn’t then I would always have known I didn’t do the best I could for my precious baby.

 

We left the hospital and I remember texting everyone the outcome and asking everyone to please carry on as normal with us and treat us like they normally would. We didn’t want people’s pity! We wanted our friends and family to be there for us and to help carry us through the most horrendous thing anyone has to go through.

 

In the coming weeks Annabelle was her usual gorgeous self, no idea what was going on around her. I was trying to find someone somewhere that could help. I found an article about a little girl called Lizze who was about 5 with type 1 in America. I was able to contact her grandmother and found out she was having clinical trials of all different kinds. I managed to get in touch with the doctor but he said he was so sorry, he couldn’t help. Lizzie's grandmother emailed me and gave me the details of a brilliant doctor in London who was on the International Care committee for SMA. I emailed this doctor and she was wonderful from the start. She said I would need to be referred but she was willing to help. So back to my GP I went and she referred us to The Royal Brompton hospital where Annabelle was finally assessed. She was the first positive person we had seen about Annabelle and she was sure she could help us. She booked Annabelle in for a sleep study and was arranging for her to have NIV (non invasive ventilation) in the form of Bipap that we would try and get Annabelle to sleep with at night. We believed that there was a small chance that if Annabelle would sleep with the bipap then there was a possibility that her lungs and muscles around them would become stronger with the added help! We were willing to give anything a go.

 

The sleep study came round and Annabelle slept with bipap on like a dream. She was amazing!! We took the machine home, confident that she would be great with it. It lasted a while but she soon got fed up of it. It was awful putting her on it every night, but we were trying to do what was best for her! We wanted to try anything to make her stronger. We eventually gave up with bipap. Annabelle went back to The Royal Brompton for sleep studies and her levels were always really good which showed her breathing wasn’t affected during the night! She appeared to be quite strong.

 

Annabelle was never a great feeder, it’s not that she couldn’t do it, she just wasn’t interested! Her weight gain was very poor so she was introduced to Infatrini which at first she loved! I have never seen her drink milk like that before! So that proved she could do it!

 

We were inundated with visits from physiotherapists to occupational therapists to community nurses! The list went on, as did the appointments! Some weeks it was too much and I just wanted to lock myself away with my baby girl and let no one get to her. I wanted to wrap her up and protect her forever. But I kept going as we really wanted to do whatever we could. My health visitor was the best support throughout everything! She was truly amazing and became a friend more than a professional. She was there the whole way through and still is to this day!

 

We were asked on a number of occasions to get a plan in place incase Annabelle stopped breathing! This wasn’t something I was willing to do! I just couldn’t think about it and didn’t want to think about it!! However, one community nurse really pushed and pushed with this! I use to dread her visits as she use to reduce me to tears every time. She constantly pushed when it came to getting Annabelle to have an NG tube fitted, but as her mother I felt I knew best and I truly believed she didn’t need it! I didn’t want to make her appear poorly when I believed she wasn’t!

 

After Annabelle’s diagnosis we were given the details of The Jennifer Trust – the biggest national charity dealing with SMA. It took me a while to contact them, at first I didn’t want to talk to anyone! It would make everything too real! And I certainly didn’t want to talk to families that had lost their babies and knew the pain that would be to come! That was until I saw Claire from the Jennifer Trust, she was lovely! And knew what we were going through as she had seen it so many times before! She explained the amount of support we could receive and told us how we could say no to people and shut the door when things became too much! She really was like a breath of fresh air! She arranged for a huge sensory toy pack to be sent out to Annabelle! This was full of the most amazing things – fibre optic lights which we put around her changing matt, projector lights, musical toys that she could hold onto! It was amazing. Finding toys for baby's with SMA is not easy as they can’t grasp normal toys like other babies, and it’s heartbreaking to see that your baby can’t get pleasure from things they should be able to. The Jennifer Trust offered to put me in touch with other families, but at that stage it wasn’t something I wanted! I couldn’t bring myself to really face the truth, I was sure Annabelle would be ok and we would find a cure. So I just stuck to seeing Claire as and when she could get all the way to me.

 

 

Annabelle never really suffered from chest infections; we always thought she was quite strong! She had a couple of little episodes but recovered so quickly! The day after Annabelle’s 7 month birthday I woke up and was waiting for her to stir, she was making funny little noises, so I went in to check her. I will never forget what I saw; she was struggling, really struggling! She was almost grey. I took her into the garden, I thought she got too hot! She seemed to be making these awful noises! I went up to my mum and she really panicked. I told her to calm down as I needed to think! I called the ambulance and tried to get Annabelle on the ventilator to help her breathing. The rest is a bit of a blur! But I remember the ambulance crew arriving. I was really angry as they were all supposed to have been aware of Annabelle and SMA but they weren’t! No one had a clue! So I was trying to explain, but they were panicking, I could see it. They were faced with an extremely floppy baby who was struggling to breathe! They didn’t understand that she was always floppy. When she arrived at hospital she was taken straight into the crash room. We were in there for a few hours! The time just froze for me…. I felt like I was in another world! I wanted to hold her! She never liked to be put down, and hated to be touched by anyone else, but they wouldn’t listen to me! I thought I knew best! I thought if I could just calm her down she would be fine and I would take her home and it would all be forgotten! Little did I know this was the beginning of the end. Annabelle was eventually transferred to a room on the children’s ward, but to be fair, they didn’t know how to cope with an SMA baby, she needed specialist treatment. They were unaware of how to use her bipap machine there, time after time as asked them to call The Royal Brompton to get them to tell our hospital which settings Annabelle should be on, but they never did! Therefore she struggled, and before we knew it she was going down hill again.

 

As time went on they realised she needed urgent attention. We were told she was going to Royal Brompton so I was pleased as I knew the consultant there would know what to do! But at the very last minute the bed was taken so we had to go to Great Ormond Street Hospital. The CATS (children’s Acute Transportation Service) team arrived but weren’t prepared to take her in the condition she was in, they said they had no choice but to intubate. We didn’t really have a choice! I felt like my whole world was crumbling around me! I could see in their faces they held out no hope for my baby! When we finally arrived at GOSH things were different. They were talking to us with hope 'WHEN she gets out of here' not 'IF' – I felt relieved for the first time in days. We knew she had the best care possible there! She arrived on the Thursday, they tried to extubate on the Saturday. It was unsuccessful. As I mentioned before, Annabelle couldn’t be away from us at all, she would get herself so worked up. I was sure that was why it didn’t work this time! It was now really that the doctors started to realise things weren’t going to be as simple as they first thought! She was really struggling and they didn’t hold out much hope. Nevertheless they were prepared to try extubating again on the Monday, this time me and Wayne arranged to stay with her. It worked! And finally we were able to cuddle our baby girl! Something we had been waiting for 9 days! It felt like she had been born all over again! As time went on I was very worried that she was struggling still, but no one listened! I asked time and time again for an x-ray to be carried out so they could check her lungs! It wasn’t until Thursday until she was really struggling they agreed to do one. It was then we knew things were bad! One doctor came over to the nurse looking after us and just said she has 2 white outs! He then went! We were in the dark once again. I asked the nurse but she didn’t know what to say. I was frantic! It was when I walked past the office where they looked at the x-ray images that I could see Annabelle’s up on the screen, both her lungs had collapsed again. She wasn’t strong enough to breathe on her own anymore.

 

One of the doctors finally sat us down and explained that things weren’t good! The only options were to either reintubate or to take her home and care for her. We couldn’t put her on life support again! What if we couldn’t get her off next time? But then were we giving her a fair chance? We should never have been faced with that decision! It was awful! Something we will never forget! But seeing your baby on life support, with the tube down their throat, the silent cries, and the pyhsio – that goes beyond what you can ever imagine! No one in the world should have to experience that.

 

We decided enough was enough! Our baby had to decide what she wanted, it wasn’t this! They arranged for the palliative care team to come and talk to us about what would happen now and they arranged for an ambulance to take us home by blue light. There was a chance we wouldn’t make it, but we didn’t want her to die in hospital! So we had to take the risk. Leaving that hospital was one of the hardest things we have ever had to do. We knew we were going home and our baby was going to die. I just wanted to wake up out of this nightmare. When we arrived home we knew it was the right choice. All our family were there! The house was filled with everyone we loved, and everything Annabelle loved, balloons, happy people, her hot tub! That first night was hard, she was unsettled and scared, and we could see that. But she soon relaxed when the morphine kicked in! The next day again we had a house full! Annabelle seemed so happy and relaxed, we were constantly on edge, we didn’t know how long she had, but we knew it wasn’t long.

 

Friday night Wayne went in the hot tub with her, this was her favourite thing to do! She loved it! And so did we! She seemed like she was improving, I really thought she was going to turn around! During the night on the Friday she wasn’t settling at all! We were all tired and it was so hard!  Just before 7am on the Saturday morning Wayne was getting some medicines prepared, but I called him over, I didn’t think she needed them.... this was it. We were on our mattress in the living room as that’s where all the equipment had been brought to. We laid with her telling her it was ok and she was going to be alright. We held her hands and stroked her face and hair until she took her final breath, an image that will stay with us forever. Part of me died there and then, I wanted to go with her, but I knew it was for the best! She would never have to suffer anymore, she would be SMA free. So at 7am on 30th August our Annabelle became an angel. We felt like we were the only ones in the world to feel that pain! I promised her I would never give up, my life would be dedicated to finding a cure so that no one else has to suffer like our princess did, and as us as her parents did and will for the rest of our lives. We will miss her forever but never forget her. She truly was an angel, one that could brighten up the darkest day with her amazing eyes and smile!

 

Annabelle we love you so much xxxx