Hi, my name is Eirini. I am Hector’s mum. Hector is six years old and has XLA disease.  Hector had his first ear infection at the age of six months. We spent Christmas Day in the A&E department.

“I wish for everyone, if they can, to vaccinate themselves and their families. I hear of so many antivaccine movements now. It breaks my heart.”

From then on, Hector suffered regular ear infections

We enrolled him at a nursery when he was one, but Hector was poorly so often, after a couple of months, we decided to employ a nanny instead. When Hector was two, he was diagnosed with glue ear and had grommets inserted in his ears. We felt optimistic that this would solve it. However, soon after, Hector started coughing. He coughed, repeatedly, every night for months.

We visited the GP and the A&E department multiple times but got nowhere. Hector then got pneumonia. We felt helpless. He was prescribed mild antibiotics, which seemed to work for a while, but very soon another chest infection came. This is when we decided to go private.

We visited a paediatrician; extensive blood tests were carried out

The blood tests revealed Hector had exceptionally low Ig levels, so we were referred to a private immunologist. He diagnosed XLA disease.

On one hand, the diagnosis was a relief

Finally, there was a reason why Hector was poorly so often. It made sense. On the other hand, we knew XLA is a serious disease with no cure. It was a lot to take in. As a mum, I felt guilty because, unbeknown to me, I was a carrier of this disease.

XLA disease has had an impact on our mental health

Prior to the diagnosis, we kept blaming ourselves every time Hector got ill. As a parent, it is a constant worry and stress. The disease has also had an impact on our social life and work. We had to take time off work for hospital visits and stays. We missed birthdays, parties and holidays. Employing a nanny is expensive, but we felt it really made a difference for us.

Life is settled now

Hector is being cared for by the doctors and nurses at GOSH, who are wonderful. We have a great routine. My husband and I were trained to give Hector his Ig transfusions at home. This has brought valuable independence. Hector has subcutaneous transfusions every two weeks. We use this time to relax and watch movies together. We are also more prepared. We always have antibacterial gels/wipes with us when we leave the house, and we have a great handwashing routine. As a family, we have far fewer colds now.

My advice for anyone receiving a PID diagnosis is: trust your instinct

You know what is best for your child. XLA is a rare disease and, unfortunately, there are some health professionals who lack knowledge about rare conditions. So, it’s up to you to read up as much as you can and always be critical; always question the advice you are given by the doctors. Try to agree a clear plan of action with your doctor, so it is never a panic.

The PID UK booklets are brilliant for passing on to teachers, nannies and other carers

The booklets give a clear explanation of each PID condition and are a valuable resource.

I wish for greater education on PID conditions, for the public and healthcare providers

I wish for everyone, if they can, to vaccinate themselves and their families. I hear of so many antivaccine movements now. It breaks my heart. Ultimately, I wish for a cure.

Posted 16th June 2020