Hello, my name is Lucy and I am the proud mother of my beautiful son Louis. Louis was born in December 2014 and we were blissfully happy for the first few weeks until things took a turn for the worst. Louis was not eating properly, was suffering from severe reflux and was crying in pure agony for anything up to four hours per night. I had to stand holding him for most of the day and night as he wa
s not comfortable sitting. He slept diagonally on my chest for the first 4 months (only ever up to two hours if I was lucky), me thinking that he didn't want to be away from his mummy, totally unaware that he was suffering. It became clear that Louis’ development was delayed and the doctors began putting him through a series of tests. At 16 months old Louis was diagnosed with an extremely rare genetic disorder called Congenital Order Of Glycosylation (Type 1A) and we spent the next eight months in and out of hospital with infections. It was a very worrying and scary time for us all to say the least. Feeding had always been an issue-put down to linking food with pain-and it was not getting any better. Louis eventually had a gastrostomy which also proved very difficult, he seemed to be in regular discomfort and he was unfortunate enough to have regular site infections so he had a surgical procedure to have his peg changed to a button. Since then the site has been much better. We are still working towards the correct milk balance and are still working on his feeding. Due to Louis's condition he has Global Development Delay - at the time of writing this Louis is 31 months old and as yet is unable to crawl, sit unaided, walk or talk. He has had to be carried around the majority of the time, due to his reflux he wasn't able to lie flat. We received a highchair that supported him correctly in October 2016 so for two years he was on my hip. Never in my wildest dreams did I expect to be told that my beautiful son had such a rare condition and that it was life limiting. I am now focused on doing everything I can to give Louis the best shot at life. I am raising money to pay for intensive physiotherapy and speech and language therapy at The PETO Institute in Hungary. I see progress every day and I know Louis has so much to offer.He's bright and cheerful and loves to play. He is getting stronger by the day and can now push himself up from lying flat to a sitting position. He understands when we talk to him and is trying to communicate. I know we can get him going with the right support. The departments we’re working with in the NHS have been extremely helpful and we wouldn’t be where we are today without them. However, it is clear that specialist therapy is needed to help Louis to be able to walk and talk. A speech and language consultation every 6 months is just not enough to make any meaningful progress. We estimate his treatment will cost £40,000 per year and we are putting together a program of fund raising ventures. If you feel willing and able to support a small boy with some big challenges ahead then please donate using the Just Giving page link above. With love and hope
Lucy and Louis.
