Lucas was born on the 17th October 2016 at 17:22pm, blue, unresponsive and not breathing. After taking the longest 9 minutes of my life to resuscitate and intubate him, he was taken to intensive care to begin brain cooling and transfer to a different hospital. I knew from the moment he was born and taken from me he had MTM. He presented in the exact same way I remember my mum telling me how my brother looked when he was born and knew history had repeated itself.
Once the doctors had stabilised Lucas they came to speak to me and my partner, informing us that our son is extremely unwell and at this time weren’t sure what the problem was. I told them about my brother and that I thought he had MTM. The doctors made some phones calls to the Evelina Children’s Hospital in London and found out some more about the condition before they agreed it was a strong possibility.
5 hours after Lucas’s birth, we were able to go to see him. We weren’t allowed to touch him or hold him, just look at him. He was connected to wires, had cannulas, a tube down his throat, a rash all over his body and was laid on a cold mattress. They were just preparing him for transport to a higher level intensive care unit who could continue his intubation and cooling. Before they left they took his blood and mine to send off for genetic testing, testing for the MTM1 gene.
Three weeks later, Lucas had been taken off ventilation and had a small amount of air pressure being given to him through nasal cannulas, called vapotherm, and he had been transferred to the Evelina in London. His gene testing was back and it was confirmed that he did carry the MTM1 gene. Now the excruciatingly long journey to home could begin.
He got a gastrostomy to get the tubes out of his nose and a tracheostomy as the doctors felt he wouldn’t be able to spend enough time without breathing support to not have one. Once these operations were done Lucas began to thrive, he was more alert and wanted to interact and play and began to grow well. We were finally allowed to take him outside for his very first walk when he was 7 months old. We had to bring a nurse as we weren’t fully trained on all his equipment yet. I thought he’d love being outside but he hated it, had a grumpy face the whole way round the most beautiful park and couldn’t wait to be back under the artificial lights of the hospital.
Lucas came home when he was 8 and a half months old, on the 12th June 2017, the day after his big sisters birthday! We finally had our baby home and had changed our old bedroom into a mini hospital ready for his arrival. The moment the paramedics left, it all became suddenly very real, this little person and all his equipment was our responsibility.
We’re very lucky that we have a great care package where we live, with some great nurses. We have a nurse sit with Lucas every night whilst the rest of us sleep to make sure if anything goes wrong they can help. During those early months, our nurses were a godsend. They helped me build my confidence with looking after Lucas and helped me work out ways for all my crazy ideas I had with him to work!
Lucas is now 4 and is doing amazing. He can hold his head and sit on his own for a long time, is extremely good at sign language and getting his point across, drives his own power wheelchair and seems to wrap everyone around his little finger the moment they meet him. He has been learning his alphabet recently in preparation for school and can now sign all the letters in the alphabet and spell his own name. We’re still working on writing and this is something Lucas seems to have no interest for, he much prefers to type on his iPad to search for what programme he wants to watch (usually sharks or trains are involved). He loves going out now and wants to know what everything is and wants to tell you everything he sees, it 
can take us a long time to get anywhere because of this as he will keep pulling your face to his and signing until you’ve acknowledged when he has told you. Lucas’ favourite things at the moment are trains, sharks, clocks, puzzles, magic tricks, fish and all types of bugs, especially snails and bees. Before covid-19 hit, Lucas had just begun attending a local nursery which he was thoroughly enjoying and had made some lovely friends. Even when we went to view the nursery, Lucas drove off in his chair and started playing with the other children. It was so lovely to see. Currently due to the current situation, Lucas is still unable to attend his nursery setting but I am hopeful that this will soon change as he is really missing going and playing with his friends.
Living with MTM can be very stressful at times, you’re always clock watching for feeds, medications or nebulisers. Always having to check secretions and listen for the slightest noise change to see if it’s a problem. The amount of equipment you have to take everywhere and the fact that Lucas cannot walk is becoming more of a struggle the older and heavier he gets, I cannot wait to get a wheelchair accessible vehicle to help us keep Lucas safe. Hospitals play a big role in our lives and we spend a lot of time travelling to and from them. We’re very lucky that Lucas is usually very stable and rarely needs hospital admissions but in December 2019 Lucas was hit with a bad flu which saw him spending a week in intensive care due to a collapsed left lung and an infection in his right lung. It took us over a month of intensive treatments at home to get his left lung reinflated again but he is still unable to tolerate any time off his ventilator and is now dependant on it 24/7. During his first year home, he was in the hospital every other month with a chest infection, it was tiring and hard work juggling being with him in hospital, taking his sister to and from school and going to work. Lucas can turn so quickly from 
being absolutely fine to being seriously unwell, it’s so scary and is a worry every day. We now know him well enough to notice subtle little differences and keep a very close eye on any change to make sure it doesn’t develop into anything. Aside from all the medical issues Lucas is like any other 4 year old and wants to be into everything. He uses his family or nurses to be his legs if he isn’t in his power chair to make us carry him to where ever he wants to go. He’s very into cars and trains at the moment, he is currently playing with a light up car track and a train as I write this.
The Myotubular Trust has made the stress of living with a child with MTM a much easier one to carry. There is always someone available to help with advice or experience on any issues you may have or any questions you have. Everyone is so supportive and encouraging, it’s a great community they have built and one I am proud to be a part of. The ladies who run it are a wealth of knowledge and information for almost any problem you come across having a boy like Lucas. It’s also lovely to have access to people who can relate to you, families that know the struggles of everyday life but carry on living life to the fullest. They have done some incredible work over the years to help make life for our boys the best it can be and have funded so much research into finding a cure for this condition.
