Victoria’s story

Shared by Claire, mum to Victoria who is 17 years old. Victoria’s journey to a diagnosis has been a long one and she was diagnosed with Hyper IgE syndrome only a few months ago.

Living at the GP’s

Victoria was constantly ill from the age of 2 years old and had many courses of antibiotics per year. I think over eight years she had almost all of her organs checked. Nothing showed up and the infection usually went somewhere else the next time she was ill. We lived at the GP's.

I was forever told she would probably "grow out of it".  One consistent symptom was a chest problem, which was diagnosed as asthma. I always questioned this and by the time Victoria reached 15, this diagnosis changed to bronchiectasis.

We thought we had the reason for her illness record, although even then, bronchiestasis was noted by many specialists as a secondary condition. Nonetheless, we were on the right path, and Azithromycin (an antibiotic) was prescribed 3 times per week and Victoria was taken off steroids and hasn't had one since. That one small point alone was a major bonus, as she was having them every few weeks and suffering nightmares and hallucination side effects and becoming very low.

Coping with bronchiectasis and it leading to a diagnosis of PID

The bronchiectasis diagnosis has been life changing. Victoria's attendance at school has dramatically improved and she has more energy; much of this is due to understanding the condition, understanding personal limitations and the need to take tablets when she feel like she is coming down with something, and self-policing lifestyle.

As part of the investigation to find out why Victoria had the secondary bronchiectasis condition, Victoria was referred back to the immunology team who asked if they could conduct some precautionary genetic testing. They expected these tests to be normal but they weren't. Once again my daughter had baffled the doctors as many PID patients do. Further more detailed testing resulted in a Hyper IgE caused by STAT 3 mutation diagnosis. Alongside this, Victoria has several allergies.

Why we need to increase awareness of PID

The rare nature of her condition resulted in a prolonged exposure to bronchiectasis with potentially damaging long-term impact to Victoria's lung health. She is lucky. Serious lung damage is limited although this does indicate why it is extremely important that awareness of PIDs is improved.

Living life

Victoria is almost six foot tall, with an outgoing attitude and looks the figure of health to the outside world. Keeping her healthy has taken a lot of hard work and continues to be a central focus. She has always needed lots of sleep and I had to insist on no sleep overs in primary school. We have a very healthy diet and are very active as a family. All of these things make a difference to Victoria.

As a mum, I have done lots of things with her diet over the years but now she just eats what she likes and tries to stick to healthy food and lifestyle most of the time. Victoria buys into this and is aware of her body and her limitations and this makes a difference. 

Making contact with others is so important

We finally have a fantastic team at the University Hospital of Wales and we feel very relieved as a family. Victoria attended the Rare Disease Day event in the Welsh Assembly in February and met some truly inspirational people each with their own story. Victoria came away feeling very positive. Understanding her condition, being able to communicate with leaders in the field of genetic research and hearing stories of people with similar issues made a huge difference. As with everything information is king and I certainly feel strongly about educating health professional's to test people for recurrent infections instead of just treating the infection. We now know we have people on our side.

Never give up

I am so glad I never gave up and I'm very grateful to one or two doctors who insisted something wasn't right and encouraged me to push on. Most importantly, following parental instinct and insisting that the health professionals fully understand Victoria's story brought us to where we are today.

My tips for parents:

  • Never give up! it's usually a long journey.
  • If you can, take you child to an immunologist. There is a reason your child is having so many infections. Ask them to look into why.
  • Trust your instincts, they are usually correct.
  • Always, always question.
  • Stay positive and use family and friends as a sounding board.
  • Never doubt yourself, remember no other person knows your child as well as you do.

Read Victoria's inspiring story of dealing with her diagnosis and illness in her own words here

Posted May 2015