Ruby Johnson Ruby Skye

First post: Jan 17, 2022
Ruby is 14 years old and has had a serious illness called Chronic Intestinal Pseudo Obstruction (Hollow Visceral Myopathy type) all her life. When she was 12 years old genetic testing finally revealed that this is due to a mutation in the ACTG2 gene. This is EXTREMELY rare, and Ruby’s exact variant is thought to be the most severe. So what does this mean in non-medical speak? Well basically it means that her intestines and bladder do not work like they should and she is completely dependent on IV feed and medication.

Over the years her condition has become progressively worse. When she was little she still managed to eat some food but unfortunately as time went on her symptoms became more severe requiring more and more hospital admissions.. and so four years ago Great Ormond Street doctors decided that she should not eat. This is extremely difficult for Ruby because she deals with hunger every second of every day. It must be so hard for her! She does nibble on food for the taste but then removes it. I don’t know how she has the willpower, she amazes me! All her nutrition is given through a line which goes into her heart. Fluids including minerals and vitamins and fats are given over night, this has been the case every night since she was four years old.
She has various medical devices on her tummy to try and help relieve symptoms and give medication. Luckily we can give the fluids, IV medications, and take bloods at home which means that Ruby spends so much less time in hospital then she did when she was little.

She has faced many battles over the years and we would say that she has been down to theatre around 50 times. Add it all together and it’s years and years in hospital.

Her attitude to life and her kindness and resilience astound me. She attends school and likes it (she would object but I’m sure she likes it really!) and has lots of lovely friends. If she’s not in hospital she’s at school, a social butterfly. She has lots of hobbies, the main one being shopping and fashion! She is 14 after all! She is a drummer and has lessons every week. She loves music. She also enjoys climbing, bike rides, crafts, going to the cinema, TiK ToK, and spending time with friends and family. She is extremely close to her cousins who live about three hours away and likes to see them as often as possible.

Because Ruby’s condition has no cure and because we know her variant is likely to make the symptoms progress, she has been referred to King’s Hospital in London to have a Multi-Visceral Transplant Assessment. This will happen the 2nd week of Feb. There will be tests to find out what state her organs are in, and lots of meetings to discuss everything. At the end of that assessment a panel of experts will consider all the evidence and Ruby’s views and make a decision - should she be listed for transplant and if so which organs? This is such a huge undertaking, there aren’t really words to express the emotions we are all feeling! Transplant is very very risky and such a huge decision.

Ruby has great support behind her, lots of you have followed her story from the beginning.
She would love you to accompany her through this new chapter x