‘The work the Cystic Fibrosis Trust has done for our family is incredible’

Annabelle Johnston’s brother Aaron, who sadly passed away in 2014 when he was 18 months old, was diagnosed with the disease just days after he was born.

Cystic Fibrosis is a genetic condition affecting more than 10,600 people in the UK.

One in 25 people carry the faulty gene that causes it, usually without knowing.

People with CF experience a build-up of thick sticky mucus in the lungs, digestive system and other organs, and the symptoms affect the entire body.

Annabelle, who was inspired to become a doctor by her family’s experience with hospitals and the medical profession, said that it was a ‘shock’ when Aaron was diagnosed.

“Before he was diagnosed, we didn’t realise that we had carriers in the family, there is no family history of it in either my dad’s side or my step-mum’s side.”

She said that Aaron’s condition was well managed with medication and physio, until he caught Clostridium difficile, also known as C. diff.

Because the infection was so difficult to diagnose, Aaron developed sepsis and was transferred the Paediatric Intensive Care Unit at the Royal Belfast Hospital for Sick Children.

“Aaron was isolated, as the infection he had was very contagious and it was very touch and go everyday. The advice to our family would change from you need to stay in Derry and keep praying, to you need to come up and say goodbye. One day we were half way up to Belfast and we got a phone call to tell us to turn around because he had rallied.

“Unfortunately, the infection got so severe he passed away. He was just a year and half and it was really horrible.”

Annabelle, who had just started her AS Level year in school when her brother died, had already toyed with the idea of studying medicine.

“At that time it was like you can either lie down and just not do anything this year or you can push really hard to get the grades you need to get an offer for medical school.

“That is what I did, I just put my head down and have been working really hard ever since.”

Annabelle, who is in the final year of her medical degree at Bristol University, has aspirations to become a paediatric surgeon and dreams of returning to work in the hospital where her brother received such amazing care.

Her family’s journey with CF did not end with the sad passing of Aaron, as her sister Carys was also diagnosed with the condition after she was born a few years later.

“My dad and step-mum knew there was a risk that she could be born with Cystic Fibrosis. It is only a one in four chance if both parents are carriers, so they thought perhaps luck would be on their side,” Annabelle explained.

“Unfortunately, when they ran the tests on Carys it was confirmed she also had Cystic Fibrosis. She is doing brilliant and has been able to start on the new medication Orkambi, which is really making a difference.”

Annabelle said that she is incredibly proud of how Carys copes with her condition.

“It takes a lot of work to manage Cystic Fibrosis. She is only three and she takes actual tablets with every meal, Orkambi twice a day and then she does lots of physio.

“It is so much to expect a three-year-old to do and I often look at her and think how proud I am of her for being able to do that.”

Annabelle, who only started running in March this year, decided to take on the Great North Run for the Cystic Fibrosis Trust to honour her brother and her sister.

“The charity does huge amounts of research and campaigning. The CF Trust had a big part to play in getting Orkambi funded on the NHS and the work they have done for our family is just incredible.”

She has raised over £500 for the charity so far and said she is ‘excited and nervous’ about the run. Annabelle is also incredibly grateful for all the support she has received.

To donate visit: https://www.justgiving.com/fundraising/Annabelle-Johnston