My name is Ruby Skye and I am 13 years old. I had symptoms of a motility problem from before birth as they noticed on scans that my bladder was very big. When I was born I spent a few weeks in intensive care but was sent home, and they thought the main problem was my ‘megabladder’ which didn’t empty so I was sent home with a catheter.
When I was about 7 months old I started to get more and more poorly and this went on for a long time. I would struggle to tolerate milk feeds and food, and my tummy would become very big and full of air. I would start being sick with bile and need to go into hospital for fluids. This kept happening as often as every 2 weeks.
I was referred to Great Ormond Street when I was 2 years old. I do wonder what would have happened if I had been sent there sooner. My doctors decided to give me an Ileostomy and Gastrostomy when I was 3 but the surgery had problems and had to be redone twice. I became very thin and eventually had to start TPN. That admission was 9 months, my record!
My life changed for the better once I was on TPN, I didn’t have to have all the milk feeds and my tummy wasn’t uncomfortable all the time, and I didn’t have many admissions! I started nursery and just loved it! It completely changed everything. Nursery got me a 1:1 who was trained up in everything and this continued to school too. I loved being at school and with friends.
Over the years I have had many surgeries and tests. We think I’ve been down to theatre over 40 times! I am very lucky that I don’t get line infections (touch wood) so really TPN has been such a lifesaver. I have had 3 lines, the most recent one lasted 5 years but became blocked. I have had my colon removed as it made me very poorly with colitis and I was on steroids for a year. I feel much better now it has been removed.
There are obviously problems along the way. I get really bad Small Bowel Bacterial Overgrowth which has to be treated with antibiotics. I have also had prolapses from my stoma which ended up in a few trips to A&E before eventually having surgery to prevent it. I had a very bad bowel obstruction when I was 7 which would get a bit better so it went on for a long time, I ended up very poorly needing emergency surgery they said I had peritonitis and collapsed lung and collections in my abdomen!
My tummy really struggles when I eat and so 2 years ago my doctors said I shouldn’t eat anymore. This has been the hardest thing I have ever been through because I am constantly SO hungry, it is so hard. I can’t explain what a battle it is every day. It does make me very sad sometimes.
We went for Genetic Counselling when I was 11 and all had our genes tested. Mine came back with a very very rare defect called ACTG2 which causes bowel and bladder problems. More recently my liver bloods have been a bit worse so I am going to meet with the team at Kings to see what I can do to protect it better.
Life today is amazing! I am in Year 9 now and I like school, I am a drummer and love performing. I really love hanging out with my friends. I have made a few friends online through PORT who have similar conditions to me. One girl called Mallorie I have known since I was a baby, even though she lives in the USA! We are so similar in every way and we have managed to meet up 3 times! It is really good to have someone to talk to who knows what I am going through. If anyone needs any support they can contact my mum who will put us in touch! That’s another reason why PORT is so important because it provides support and puts people in touch with each other!
I want to raise lots of funds for PORT because they do an amazing job and there’s hardly any research into this condition. Sue and Sonia and all the supporters have already done so much for this condition and its our job to help them! I want other children not to have to go through what I went through.
