My name is Mylie I am 4yo. My auntie & her friends are doing a bungee jump to help raise money to get me to Philadelphia. we hope to raise £300 for the bungee towards the £6000 costs to get us there & back, here is my story..

When I was 8wks old my Mummy & Daddy had concerns about my development. They seeked medical advice repeatedly before anyone in the medical department would listen. Mummy always knows best, we were referred to physio therapy at the west centre in Drumchapel where I met Gill & Dr Laura Somerville. We had ongoing physio there. Mummy & Daddy were not seeing much changes so they asked for my bloods to be tested but they came back clear numerous times. They then asked for an MRI brain scan. Finally we got some answers I had more white blood cells than normal in the brain. Medics wern’t quite sure exactly what this means. The main thing was it wasn't life threatening so we were told I had GROSS MOTOR DELAY & continued physio to bring me on. I learned to sit by myself when I was just over 1years old & I learned to stand using my standing frame & support at 18months. After my 2nd birthday I took some steps on my own. This was an amazing achievement for me I worked so hard for this moment. Silly mummy was crying a lot but I’m not sure why? I guess she was just so proud of me. I can't walk very steady or jump like my big brother&sisters do but they help me all of the time they would never leave me behind, they love me so much. when I was about 3 years old I was taking for another MRI on the brain this brain scan didn't show any difference from the first one so we were now at a stand still. I received speech & language, I learned makaton sings to help my family, friend & nursery teachers understand me a little better. In October I had a hospital stay it started off with an ear infection (I get them a lot). I then had cellulitis in my foot, strep b through my blood & pneumonia that was very scary for everyone. All of my family & friend where by my bedside daily thank you guys I love you all. I bounced back & after a week I got home my family helped me learn to walk again. Mum&Dad took me to meet a genetics doctor, she sent some photos of me & my bloods to GreatOrmondStreetHospital in London for further testing. this procedure would take up to 8months for a result we were told. 20/03/18 I was diagnosed with CHOPS Syndrome this was kind of a relief for my family we got answers & know what we are working with? That wasn't the case CHOPS Syndrome is very rare & was only discovered in 2015. I am the 11th child in the world & the ONLY child in the UK to be diagnoised. we are raising as much as we can to get me to Philadelphia to meet the amazing Dr Krantz who discovered CHOPS & meet all 11 families affected by this syndrome. It will be good for us to get some advice off other families since here in the Uk no one knows much about CHOPS. This big meet up in Philadelphia 2019 is to get to know all other families affected, learn more about the syndrome from Dr Krantz himself & discuss the future medical options to make My life a little easier. Thank you to everyone for reading my story.