When I was pregnant with Scott I always knew something wasn’t right (he was my 2nd child), I didn’t feel normal movements or kicks. Each time I went to hospital I was put on the machine and always came under criteria but was always sent home and told to come back again the next day to try again, as he may have been having a sleepy day. I had numerous scans throughout my pregnancy and they were always normal other than he was a bit on the small side.
I finally went into labour after a large bleed at home at 33 weeks +6 days. On getting to the hospital they realised I was having a placental abruption. I was rushed into theatre and had an emergency cesarean (I actually had a classical section) where Scott was born not breathing, he was sent to intensive care and he was intubated. He weighed 4lbs 3oz.
When I was well enough I went to see Scott in sbcu (special care baby unit) where I was told he would be able to probably come home in 7-14 days, he just had a shock birth and needed a bit of help breathing. Unfortunately after the 1st day it became noticeable that something just wasn’t right.
We were referred to Alderhey children’s hospital where they had to do numerous tests including a muscle biopsy. After 3 weeks the results came back Scott had x-linked myotubular myopathy. It was devastating but Scott was fighting so that’s what we as a family lived for. Scott’s sister was just 17 months when he was born and I was a young mum, I was just 21 years old and dad was nearly 22. It all came as a shock as we hadn’t even heard of MTM before Scott was diagnosed. We had so many tough meetings and discussions with the doctors who were very knowledgeable.
Throughout the 1st few weeks of Scott’s life he was so unstable and we nearly lost him on numerous occasions, it was so traumatic as a parent watching your child go through it all and there being nothing you could do to help him. We had to make the decision as parents whether this was in Scott’s best interests to keep him on the life support machine or not. This totally threw us all but we focused on one thing only, if Scott was still fighting then we would fight with him. It wasn’t easy, Scott had to undergo a tracheostomy, gastrostomy and fundoplication at 6 months old which made a huge difference in managing Scott’s airway and feeding. It meant he didn’t need to have a tube in his nose and one down his throat. This was where Scott started making the progress and the plans to get him home started.
Scott 1st started visiting home on day trips then finally came home briefly at 10 months old when there was a ventilator issue it forced us back into hospital for another 6 months. Eventually Scott came home full time at 19 months old with a full 24 hour care team. I had just found out I was pregnant with my 3rd child and was undergoing tests as I was carrying a boy. Although I knew I wasn’t a carrier of mtm, as I had undergone testing shortly after Scott was born, there was still a small chance that I could have another child who was affected. This was when Scott became really poorly really quickly, he was 4 years old at this point and again he ended up in hospital where we found he had a pneumothorax and bullea. This made Scott the sickest he had been since birth. He was transferred to the children’s hospital were they decided that the only option was a right lower lobectomy. The operation went well but Scott really struggled after it, he was so poorly. After a few weeks Scott really started to improve and then he was back to full health so was ready to come home. This was the most stable Scott had ever been and it really did change his life this was the best his chest had ever been as well. For 7 years he didn’t have an admission into hospital as we managed Scott at home so well. We had the most fun in this time, lots of family days out and normal living for a growing young boy. He was in school full time enjoying and thriving there and amongst all his friends. His quality of life was amazing. He was happy, content, full of life and one of the cutest and mischievous little boys you would ever know. He did have the winter bugs in them years but nothing ever major enough for him to go into hospital for and Scott coped really well with these infections just like any other person without a neuromuscular disease.
Then it all changed, Scott started to become unstable again but this was now due to his spine as he had scoliosis and kyphosis. The progression was quite rapid, his chest was suffering for this, and so winters became bad again with chest infections or pneumonia which wound us back in hospital for weeks at a time. Scott’s pain started to become unmanageable whereby his was missing school a lot and he spent days in bed, it was torture as a parent again watching your child suffer in pain and there being nothing you can do apart from give him pain relief.
During this time Scott became unwell due to sepsis from the porta cath he had in and this needed removing ASAP. Again he was transferred to the children’s hospital and underwent the operation to remove it but it didn’t go to plan. The catheter on the porta cath snapped and the surgeon was unable to remove it all. This ended up causing Scott to have a svc obstruction and he ended up on warfarin and weeks of iv antibiotics as the sepsis was worse than what we initially thought.
In the midst of all the goings on Scott took it all in his stride and continued fighting and being the champ he was despite being really unwell. He came home after 8 weeks and I continued 6 weeks of iv antibiotics via a broviac line in his groin. Then the broviac line became infected once we had finished the iv antibiotics so he had to have an operation to have that removed.
Because of the prolonged time in bed in these 8 weeks of being an inpatient in hospital Scott struggled to get in his wheelchair due the curvature of his spine. We tried so many things from a new moulded seating in his chair to a new mattress but nothing helped with the pain or the inability to get out of bed. This is where we had to have serious discussions about what was the next step for Scott going to be. His LTV consultant along with his spinal consultant and neuromuscular consultant, who were absolute stars amongst all this, gave us so much information about what would be the best for Scott. It was concluded that spinal surgery was really his only option to relieve his pain and hopefully get Scott back the quality of life that he deserved. Now this was breath taking as it entailed so much planning and discussions with all the professionals Scott has involved, including us as a family. By this point it was 16 months after his admission into hospital for the porta operation and Scott had spent that whole time off school and literally spent his whole days in bed unable to get out of it for any prolonged period of time.
It took weeks for us parents and Scott to come to a decision if spinal surgery was the best thing for him. All that Scott ever signed was he wanted his back fixed so he can go in his wheelchair and have that independence he absolutely craved to get back. That was what gave us parents the courage to decide that it was right decision for Scott to go ahead and agree to this huge operation. The wait was hell, eventually the day came and unfortunately the morning of the operation in April 2019 Scott’s bloods weren’t great. He has a problem with his platelets and these were far too low for the spinal surgery to go ahead. This was devastating as all the planning, preparing Scott and preparing ourselves for this was heart-breaking. When I told Scott not today he was crying and signing please fix my back, and he said he wasn’t going home from hospital unless they fixed it. This was the worst I ever felt as a parent in Scott’s life. I was totally unprepared for the effect this would have on mental health in the coming months.
2 weeks after this failed attempt we got another date which was 1st July 2019. I then had to prepare Scott again for another go at him having his back fixed. He honestly was so excited and we had to count the sleeps. Again we went to hospital the day before and all was well this time. The morning of the operation I was an absolute nervous wreck along with Scott’s dad. Scott was super excited and as much as we had prepared, no amount of preparing is ever enough. He went down to theatre and I can tell you that was the longest day I have ever experienced in my life time. He was in theatre for over 11 hours. When Scott came back he was really poorly as his body had took a massive hit with how long he was under anaesthetic. His BP was all over the place and they struggled to get it under control. Again we had to have a talk with the ICU consultant about if Scott didn’t stabilise we would have to be having a real talk if this was best for Scott. They managed to stabilise him but Scott was real ill for 2 days and his body struggled. On day 3 Scott moved to HDU as he had settled and was now off sedation, he was still in quite a lot of pain but he rarely complained. He was black and blue from where he had lay on the theatre bed and round the incision, which was from his neck to his coax. Over the next week Scott went from strength to strength and was sitting up his wheelchair, off strong pain relief and his wound was healing well. Before the operation we were told he would be in hospital for a prolonged period of time but after 13 days Scott was well enough to come home. This not only astounded us but his consultants too. We were all so excited to be able to come home. Scott’s recovery was so fast to what we had prepared ourselves for.
We are now 18 months post spinal surgery and what I can tell you is that he now has the best quality of life ever. He loves life, he’s back to doing the things he absolutely loves doing. He goes to school full time, he goes bowling and to the cinema, he spends all day in his wheelchair racing around with his little brother in tow and tormenting his older sister. He is now living the life of what a nearly 14 year old should do. He’s a grumpy hormonal teenager at times and loves his PlayStation so hides away in room. He really enjoys family days out and playing with his friends. He lives the life he deserves and craved for so long now.
As a parent, through all the bad times that Scott has had it’s been totally heart-breaking and torture but it’s Scott that has kept us going with his amazing smile and personality. Now the good times totally overpower any of the bad times we’ve had and been through. To say I’m proud is anunderstatement, I’m just beaming with pride from my whole being that I’m his mum. I would lay my life down for him if I could.
