Remi's CGD Story

Remi was diagnosed with CGD in 2007, at 18 months old. With a diagnosis from the hospital and plenty of support, Remi and his family managed his CGD well until an unfortunate lung fungal infection in December 2021. 

The fungal infection meant Remi needed medical treatment right away and missed a lot of schoolwork for his GCSE’s. Helen, our Clinical Nurse Specialist, worked closely with Remi’s school to ensure he had the necessary support to keep up with his education. 

As time went on, Remi seemed on the right track, however his symptoms unfortunately got worse in his last year of A Levels.  

New symptoms

“I was noticing that I was visiting the toilet a lot more often, even in the night which was unusual. I also had a huge weight drop which concerned me and my family. We managed to get hold of the consultant who started me on some tablets that would help. Unfortunately, they didn’t help as much as we had hoped so I had to start on injections too. Eventually, we started seeing a difference.” 

In June 2023, Remi’s symptoms worsened again, and he was finding mucus and blood in his stool.  

“At the time, me and my family lived in Bournemouth which was a 120-mile trip each way. It was exhausting for all of us, but I knew I needed to get better. Eventually, the doctor told us that I had to get started on a meal-replacement treatment which was awful. It’s an infusion through the vein. The first few weeks I was so, so hungry, so it was decided that I would have the amount increased.  

“It still didn’t help much, so after about a month I was able to start a bland diet of 1 to 2 meals a day. In September 2023, after all the difficulty around my diet, I was allowed to get back to a normal diet alongside some meal-replacement treatment.” 

Gene Therapy

In October 2023, Remi was still in much pain with his fungal lung infection, which caused a collapsed lung. It was decided he would need surgery. After his surgery and so many difficulties with treatments, Remi was offered the opportunity to be the first person to undergo and complete gene therapy for p47 CGD. 

“My doctor told me I could either have a bone marrow transplant, or gene therapy. I only had a nine out of ten match for the bone marrow transplant, so although the doctor was happy to do it if I wanted, he said he would rather recommend gene therapy.

“Gene therapy is different to a bone marrow transplant because instead of giving you someone else’s cells, they take yours out, make them better, and put them back.

“The gene therapy started in March 2024, where my cells were taken out by the gene therapy team. I was on a machine for two days, and then my cells were sent off to be corrected.

“Once my cells were correct, around the end of May 2024, I was re-admitted starting a course of chemotherapy for 3-4 days. I had a lot of fevers, I lost my hair and felt quite unwell. After that, my genes were replaced back into my body. I felt quite unwell for about a week and a half, but after that, I felt good.

Both Helen and the gene therapy team were so helpful, if we ever had any questions, they were there right away to answer them.”

 

Around two weeks after the gene therapy, Remi could take home leave but had to return for blood transfusions. At the end of August 2024, he had his Hickman line taken out and has been feeling great since.  

“When I was having my treatment, I did feel isolated as I had to stay at home so much. But now I can do my A Levels and drive my car just like anyone else. When I passed my driving test just before my gene therapy treatment, it gave me so much motivation to get better quickly – I really love driving.  

Moving forward, I want to be a corporate lawyer. I’m applying for apprenticeships in London and if not, I want to go to university. The future is bright.”