Benjy's story - by his mum Michelle

I knew I was a carrier for X-linked agammaglobulinemia (XLA) from the age of 15 - my dad who had XLA had died three years earlier at the age of 37 from serious infections and encephalitis. When my husband and I started to think about having children, we were terrified of history repeating itself, as my experience up till then of XLA was that my dad had always been poorly, frail, and needing constant hospital visits.

Learning about XLA

We had "genetic counselling", but all that really told us was the mechanics of how the faulty gene was passed down - nothing about the reality of having a child with the disorder. We were then lucky enough to be put in touch with the wonderful Immunology Team at Great Ormond Street Hospital (GOSH). They spent time explaining to us the very real differences in treatment and expectations for boys with XLA now - my dad had not been diagnosed until he was 10 years old, and at that time little was known about the condition. Dad received immunoglobulin replacement therapy, but was given such small amounts that it barely scratched the surface. GOSH told us that the outcome for a child born today with XLA would be very different – as they now know how much immunoglobulin is needed to maintain good daily health. A sentence I remember so well is "boys with XLA do really well now, they often have less infections and illnesses than school friends during childhood as they are so well protected by the immunoglobulin therapy". We learnt about infusions, and how we would be able to do this at home. Gradually, as we learnt more about the condition that, to us, had always seemed so terrifying, we came to understand that it might be manageable and, if we did have a boy who had it, then he may not be as poorly as we had thought.

The decision to have pre-natal testing

When I fell pregnant, we then had to decide whether to have pre-natal testing to see if the baby had XLA. We decided to go ahead with the test, as we desperately wanted to know whether this, our first baby, would be affected. When the results showed that our son did have XLA, we spent the rest of the pregnancy trying to adjust to this, finding out as much as possible about the condition, and pretty much worrying every day.

When Benjy was born, he was the most beautiful thing we had ever seen. He was healthy, alert and perfect. Soon after we started immunoglobulin therapy via subcutaneous infusions - we had the first three at GOSH where they showed us how to do it ourselves, then we chose to start doing these at home.

'Baddie bugs’ and Ig therapy

Benjy is now 5 years old, and we are now old hands at infusions. He has always sat and watched TV and eaten chocolate (!) whilst they are running, currently for 50 minutes every two weeks. He had a bit of a wobble with needles when he was 3-4 years, but we stayed firm and calm, and treated it like anything he doesn't want to do, like brushing his teeth - he may not want to do it, but he just has to! We have explained in basic terms, what his condition is, and he had read some books and information about it, which helps him understand he needs his infusion to "fight the baddie bugs" - the infusion has the "goodie bugs" in and they always win! As he now knows that he will get an hour of TV and some chocolate, we find he sometimes asks for his infusion now, as it is almost a "treat".

Benjy takes everything in his stride

Right from birth, Benjy has been very healthy, with no major infections. We had one hospital admission for a serious eye infection known as peri-orbital cellulitis but now we know the warning signs of this and can hit it hard with antibiotics. If Benjy shows any signs of being unwell, e.g. a bit of a sore throat, we start antibiotics much sooner than normal, to keep him well. We see the team at GOSH every 6 months, and Benjy has regular blood tests to make sure everything is as it should be. So far, he has done exceptionally well.

Benjy takes everything in his stride - he just gets on with it. He has started school, and his teachers are aware that they need to let me know if he seems a bit "off" as this might be a sign he is coming down with something. Chickenpox has run through the school a number of times, along with the usual coughs, colds and flu; Benjy hasn't been infected by any of them. He stays extremely well, and is often the only child who hasn't gone down with the most recent outbreak.

So far, the XLA hasn't placed any restrictions on what Benjy can do - he goes swimming, plays in the mud, sand and anything else he can get dirty with, and is getting great at karate. We try and keep him as active as possible to keep his lungs and general health strong. We've been abroad (to Disneyworld!) and just made sure he was topped up before we went, and that we had lots of information with us should he fall ill. We thought getting travel insurance would be tricky, but easily got cover with World First Insurance.

Benjy constantly amazes us!

Benjy is a happy-go-lucky, active, funny, brilliant little boy, and constantly amazes us. He now has a little brother, Henry age two, who does not have XLA. There is no difference in what they can do, although we do find Henry has more coughs, colds and infections than Benjy, so often it's him who is poorly, whilst Benjy sails on by.

Our experience so far of XLA is nothing like we feared, the treatment is working extremely well although we live in hope that one day we will be able to "switch" the defective gene and have a cure via gene therapy. Until then, we get on with infusions and antibiotics, and hope Benjy stays happy and well.

My advice for other parents

When you get a diagnosis, find out as much as possible about the condition, but be careful about where you get your information from. Your hospital team should be your first port of call,and then specialist websites such as PID UK. We found a lot of the information about XLA available online or in print was out of date, and didn't reflect the current situation for children who are treated from birth or in their early years. So don't believe everything you read!

Story posted May 2014