This story has been shared anonymously and therefore does not come with any imagery. We are so grateful to the family for graciously sharing their thoughts on living with two sons with CGD. Thank you.
“Our eldest son had just turned two when he stopped walking. After 6 weeks of going from doctor to doctor it was finally discovered that he had osteomyelitis in the leg which was treated with a long course of antibiotics. He recovered but we knew that something was still not right.
“My wife is a nurse who has worked in an immunology department and she asked the doctor to look into our son’s immune system, to no avail. During this episode our youngest son was born. At five months old he developed an abscess in his neck which required multiple drainings. Again we asked the doctors to look into the boys’ immunology. We thought they were working on it but nothing was done.
“Later that year, when our eldest was nearly three, we took him into A&E when he was feeling very poorly and a MRI of the head showed that he had multiple brain abscesses. One was much bigger than the others and was drained immediately. It was only after this operation that he was diagnosed with CGD and later his brother also. He went on to have three further brain surgeries and we spent three months in the hospital. During this time when he was fighting for his life we clung on to the words of the first brain surgeon who told us that it would take six months to a year for him to recover completely. And that is exactly what happened.
“We felt that the doctors weren’t considering the CGD side enough in their treatment and it was at this point that I got in touch with Helen at the CGD society. In her first email to me she wrote “you must be brave and you challenge the medical team” and her words were just as vital as the brain surgeon’s in helping us through. With her support we fought to get both boys on anti fungals and to change the antibiotic used to treat the brain abscesses which wasn’t a frontline CGD drug. There was no donor found for our eldest son for a bone marrow transplant but we were offered a haploidentical transplant at Newcastle. My wife found out about a gene therapy trial for autosomal recessive CGD at GOSH and we feel we have won the lottery twice in that both boys have been accepted on to the trial. This was a decision that we had to fight for and we were aided by Helen’s logistical help and impartial advice.
“Our boys are now four and two, happy and healthy, and waiting for their treatment to start. It has taken a while for me to go about running the daily lives of our children without being overtly stressed at all the potential CGD hazards. We have tried to focus on all the things they can do and again Helen has been very helpful in indicating how to evaluate the dangers. We have found it tricky explaining to friends and family what the boys can and can’t do. That they can catch a cold, for example, but can’t play in a playground with woodchips. So it is useful to have the CGD society guidelines to show people. I have found the CGD stories on the CGD society website really helpful throughout the last years.”