This piece was originally written in 2014. Very sadly, Louie died in May 2019.
Louie was born on 19/03/2012 and appeared to be healthy, although he did have a low birth weight of 4lbs 11oz but no one seemed concerned about that.
When Louie was around 5 months old his feet went really stiff and pointy, after taking him to the GP, he was referred to our local hospital. In the next few months we noticed Louie wasn’t moving his legs very much, he was also becoming quite floppy. He could sit with support and hold his own head up at this point, however he wasn’t sitting up independently and sometimes his head would fall down.
At 8 months old the doctors told us they thought Louie had SMA type 1 but were confused as at this point he had no breathing problems. The results came back negative and that Louie does not have SMA type 1. A couple of weeks after Louie began to breath very heavily whilst on a shopping trip and he was struggling, this resulted in us having to call an ambulance and Louie was taken to our local hospital, he was there for 2 days on oxygen but was getting worse so was transferred to the PICU at the Evelina Children’s Hospital.
Louie had RSV, and was very unwell he was ventilated and on oxygen. The doctors attempted to remove Louie’s ventilation a few times and each time it failed, we were told Louie’s "condition" was probably becoming worse and he needed to be transferred to St George’s Hospital so that the neurologists could see him and try and figure out what was wrong, he was transferred on Christmas Eve 2012, at this point he was 9 months old. As it was Christmas time, it took a while for Louie to be seen, when the neurologist did see us they told us they thought Louie had SMARD (Spinal Muscular Atrophy with Respiratory Distress) something we had never heard of and looking at the statistics it couldn’t possibly be?
However, they were correct and at the age of 10 months Louie was diagnosed with SMARD. Louie is now 2 years old and on long term ventilation at home, he spent 7 months in PICU. Louie’s day to day care is very hard and both Louie’s dad and I have had to give up our jobs to care for him at home. He is on long term ventilation, has a tracheostomy, urinary catheter and is fed via a peg into his stomach. On a daily basis we have to change Louie’s dressings and give him nebulisers. We also have a machine called a cough assist which we use 3 times a day to keep Louie’s chest clear, we have to suction Louie’s tracheostomy to keep his airways clear and feed him via a feeding pump. We have nursing care 4-6 nights a week depending on how the rota is covered and have also received support from charities and lots of support from families. Over time Louie has lost a lot of movement, he can’t walk or sit up but still moves his arms legs and body. Over all he is a very happy little boy and always smiling, he loves watching DVDs and playing with his iPad.