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 physio – 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

They were always at the end of the phone for me and I felt they were the only people who really understood.

The next weeks were hard trying to be positive. We were wishing for a miracle, the amount of times I typed "miracle cures" into Google is uncountable; we were just looking for anything that would help us, that would help my beautiful Belle, save her from being taken away when she was so loved by us. If I'm honest, I never thought she would go. I thought she would be the first baby to survive SMA.

Belle is the most beautiful baby girl I have ever seen. She had the biggest blue eyes, and her eye lashes were so long. She had ash blonde hair, and a smile that melted your heart. She would giggle at the silliest things, I always tried never to cry in front of Belle and I would watch her sleeping and feel so helpless, because I couldn't save her - that is why I would cry, she never complained, and she loved to be cuddled. She used to sleep in between me and her Daddy, as I wanted her to feel close all the time for her short stay. I once read another Mum's story, and she described SMA to be like someone holding your hands behind your back whilst being stabbed in the heart - this is so true!

Then, on Christmas Eve 2008, Belle started to become unwell. She had a fever and was very pale. We took her to A and E; her oxygen levels were nearly 80% and they should be no lower than 95%. She was put on oxygen and a x-ray was done. The results confirmed our worst nightmare - she had a slight chest infection. I just started to cry with fear, and Belle looked at me and began to cry. I felt awful as my fear had given her fear, she trusted me completely, so I stopped immediately. Things just got worse and worse as the days went on, we were put on a ward and within hours moved to High Dependency. More tubes came every day, then in Intensive Care, even more tubes and monitors. We learnt what each beep meant, when it was a serious beep it was horrible. There are two moments in hospital that I will never forget. One was on Christmas day, when she was able to come off CPAP for an hour, and we were able to cuddle her, which was my favourite thing to do. And the second was the smile she gave me and her Daddy with a tube in her mouth in intensive care; this was her last smile and also the last time I would see her awake, although I didn't know it at the time.

After four days, the doctors gave us the devastating news that there was nothing they could do for her, as they were forced to use so much pressure to get air into her lungs for such a long period of time, she would never have been able to breathe on her own, even if she had got over the pneumonia. I couldn't take it in, I just kept thinking there must be something else they can do. Selfishly, I even thought 'I don't care if she has to have a machine to help her breathe forever' because I didn't want to be without her, but we had no choice. We had to take the ventilator out. Me and her Daddy cuddled her as she passed away in our arms on the 29th of December 2008, at 6 months and 3 weeks old.

Since Belle passed away I have met other Mums in the UK  who have lost their babies through this devastating condition. This has helped me so much, and we now have a huge support network on Facebook. SMA is the number one genetic killer of babies under the age of two, and yet nobody has even heard of it! Even my GP didn't know what it was, and this saddens me. I made a promise to Belle that I would fight SMA and raise awareness until people hear me and find a cure. Belle has taught me so much, more than I have ever learnt in my own lifetime...

We love and miss you Belle so so much! You are forever in our hearts xxx.

 It seemed so surreal that we were asking doctors to not resuscitate our baby. But it was so important to Steve and I that Lucas retained his dignity throughout his short live and that he should be able to enjoy his time (however short that may be) without intrusive medical intervention or the prolonging of his suffering. We knew there was no cure for SMA and I think that gave us the courage to make these decisions for him – however heart breaking.

Lucas was well for the next 6 weeks. We felt safe in the 3 hourly feeding routine. The NG tube showed the world that he was special and we even dared to plan trips away to London and Scarborough - trips that we unfortunately didn’t get to take. We wanted to fit as much in to Lucas short life as possible. The Jennifer Trust leant us the most incredible sensory toys for us to play with, with Lucas. He loved light and colours and would lie for ages watching the spinning patterns that the projectors would make on the walls. Hence the Television was also popular – much to James’ delight too!

As important as our need to care for Lucas was, our thoughts we also constantly with James and how SMA would affect him. Again Claire at the Jennifer Trust was able to help. She put me in touch with the parent of a baby who had also suffered with SMA type 1. She was called Judith and she had, had a child of James’ age when her second baby was born with SMA. It was such a comfort to me to hear how their family had coped and were still coping almost 10 years later after the death of their baby. I think I should quickly return to James at this point in this story as he played such a big part in being the most amazing brother. He never questioned why we had to spend so much time looking after Lucas and he was never jealous of the attention that Lucas got. He helped us to set up Lucas’ feeds, and at the times when my heart was breaking and I simply couldn’t smile, he entertained, Lucas and I with a dance or a story. We often took James and Lucas to church and we had them Christened together– a very beautiful day. This helped us explain that when Lucas died, he would go to heaven and also helped James to understand about Lucas’ funeral.

All of a sudden at the end of November, Lucas fell ill. After a week in hospital, suffering with a bad cold, Airedale hospital arranged for an ambulance to take us to Martin House, our local Children’s hospice. Lucas was on oxygen at the hospital and had received physiotherapy for his chest congestion. We had even learnt to use the suction machine. We had planned a visit to Martin House that week anyway but hadn’t expected Lucas to be hit so hard by a cold. He had managed to cope really well with bugs up to that point. But this time it had really weakened him. Airedale Hospital were so amazing at looking after Lucas, but Martin House was able to give us the space to enjoy being a family, whilst also caring for Lucas. Our last two weeks with Lucas (and the week we spent there after he died) were filled with the most amazing colour and light and I don't think we can every properly thank the people there for making the most difficult days of our life so perfect.

When we arrived we were told Lucas had only days to live. His dazzling smiles were gone and he looked pale and tired. Lucas was given morphine to ease his breathing and to everyone’s surprise steadily started to improve, he even came of the oxygen and his smiles returned. We celebrated James’ third birthday and with the run up to Christmas there were many tree’s to decorate and kids for James to play with – he had a ball. After 2 weeks we started to talk about going home and planning again for a Christmas at home. Then Lucas died. Throughout his journey, Lucas had made so many decisions for us at times when we didn't know which way to turn. Lucas brought us to Martin House. He chose to keep us there and he chose his time to die. For that we couldn’t be more grateful.

It was the middle of the night 8th December and Lucas had been griping at us for an hour. The night staff offered to look after him and let us get some sleep. He had a dose of morphine and then minutes later the night staff knocked on the door to say that Lucas was having a blue episode. This wasn’t the first time it had happened and I wasn’t worried until I got to him. He was so pale and breathing so gently. We held him and talked to him and minutes later he had gone.

We sat with the night staff holding Lucas for the rest of the night and then at 6am we bathed him and dressed him and wrapped him up in his moses basket in “The Little Room” - a special bedroom that is kept very cold and where Lucas was able to stay until his funeral a week later.

James kept us all together throughout the funeral. He held a balloon for Lucas that he let go at the woodland burial site. I will never forget James standing there, so small on the icy grass shouting “Catch it Lucas” with such excitement , as the silver star floated up to the heavens. Nor will I forget how he turned round and waved “Bye Bye Lucas” as we left the graveside. James is still keeping us together now. It felt like we started grieving for Lucas in October, when he was diagnosed with SMA, way before we really lost him. Soon after his diagnosis, a good friend told me that we must look for the positives. My heart was so empty at this point that I thought it was impossible to find any good in it.

Today I can look back and understand what she meant. Although Lucas' body was weak his spirit was so strong. He was such a happy soul who just loved to watch the world go by. We learnt to treasure every minute with him and never take anything for granted. Most importantly we were given the time to say everything we wanted to say and to make sure we can look back on the 4 short months he was with us without any regrets. We’re now 1 year on and we’re still learning from the experience. Lucas taught so many people so much and for that I wouldn’t change a minute (except for the obvious).

I miss you baby xxx.

They asked if he ever had difficulty breathing and if he was born with the dip in his chest that he had now. We had never found this dip significant and always had thought he was just ‘pigeon-chested’. They questioned us more about his chest and upon leaving the appointment they emphasised that we were to take Luca to A&E if he were to struggle to breathe.This now had raised so many more worries in us – in areas we never had considered before. We didn’t understand what the doctors had seen.  We returned home in a state – our minds racing with questions and worries. At this point still no name had been given to what Luca might have wrong with him. One of the Paediatricians from the Development Centre called us at home that evening – this seemed strange. He told us that we were to go to Evelina Children’s Hospital tomorrow morning to see a Neurologist there. Panic started to rise in us at an unstoppable rate. We now knew that something serious was suspected in Luca – to be sent to see a Neurologist the next day. In the morning, after not getting any sleep, we headed off to the Evelina. Luca didn’t have an appointment, but had been slotted in after the Neurologist’s surgery. Another fact that emphasised to us how serious this all was.

So on 25th September at the Evelina, Dr Wraige examined Luca in the same way all the previous doctors had done, and asked similar questions. She asked if anyone had yet mentioned to us what Luca may have wrong with him. Her next words changed our lives forever. She said Luca was showing all the symptoms of a condition called Spinal Muscular Atrophy (SMA) Type 1 – the severest type. As Dr Wraige continued to talk, explaining about the condition and how it affects children, I started to sob and Claudio had a look on his face I will never forget. I could see where she was heading. Half listening through shock and panic as she explained that Luca’s chest muscles were failing him, that he was over using his diaphram to breathe which is why his chest was dipping, I pre-empted her – “He’s going to die, isn’t he”…

This is where our blog starts. Luca was sent for a blood test that same day. We received the results a week later, 3rd October 2008. Looking back now we can see the signs of Spinal Muscular Atrophy – hindsight is a wonderful thing… But there was always another explanation, and you never expect the answer to be “it’s because your baby is terminally ill.” Luca wasn’t suffering just from wind, but he was hungry because he couldn’t drink his milk. He choked on the Infacol and Gripe Water because he could no longer swallow properly. He continuously woke in the night because his body was alerting him to the fact that he wasn’t getting enough oxygen, and because he was hungry. The list goes on.

Our lives changed completely that day.  How we saw everything in the world was different and would never be the same again.  We were thrown into a world of medical care for our baby that we were so unprepared for  - and we had to learn fast.  Since that day of diagnosis we have had to live with the constant fear that Luca could die any day.  Any day.  That is something that as a parent you can never digest. 

When Luca was diagnosed we were told he would most likely die before he reached a year old, as 80% of SMA type 1 children do.  At 6 months old he contracted bronchiolitis and ended up in PICU fighting for his life.  We nearly lost him then.  He nearly was part of that statistic.  But we didn’t.  We chose to managed Luca’s care with the use of the Bi-pap ventilator to compensate for his inability to breathe.  Luca turned one.  Then two.  Now three.

Our journey continues and can be seen on our blog: lucafuorvito.com

You will read about our highs and our lows.  The times we have been in hospital.  The times we have got Luca through serious choking episodes and illnesses.  The time he fell into unconsciousness because he wasn’t breathing for so long.  The realities of living with SMA.  You will also read about taking Luca to the park, the aquarium, the park, the museum.  You will see him playing.  You will see him learning.  You will see him laughing.  You will see him being loved.  You will see him loving life.