Victoria’s story

Hi!  I’m Victoria and 17 years old. I was diagnosed with the primary immunodeficiency Hyper IgE syndrome only a few months ago. Getting the diagnosis was overwhelming for me. It was tough but the good news is now I’m looking at the bright side of life. This is my story of dealing with my diagnosis and illness. I have written it because I want to help support and inspire other young people in a similar position to mine and to let them know they are not alone.

Diagnosing bronchietasis changed my life

I was 15 when I was given my first diagnosis of bronchiectasis. Most people think this was something that changed my life negatively, but it didn’t. It actually got better. The thing is most people think the symptoms come with diagnosis, they miss that you’ve been living with symptoms for the period of time up until your diagnosis. I have been living with infections since I can remember so I don’t know any differently.

After my diagnosis of bronchiectasis, I was put on the antibiotic azithromycin, 3 times a week. I found taking them an absolute pain and it was hard to keep on top of taking them regularly to begin with. However, these magic tablets changed my world! Before, a sleepover, a ballet show, a party, a holiday, the nice things would send me into decline. I am not one to do things by halves anyway, so I could expect to become run down within a matter of days after just one of these activities. I was so frustrating seeing all my friends doing these things and still being full of energy... I couldn’t understand why I always felt so tired afterwards.
Azithromycin definitely helped! I recently did a ballet show which was extremely tiring and took a lot of energy. However, that was 4 weeks ago and these 4 weeks have been completely infection free! Although I do sometimes get problems with my sinuses and feel tired, there is without a doubt, a huge improvement in the way I feel!

Getting my ‘proper, full’ diagnosis and its impact on me

I thought being diagnosed with and keeping on top of the bronchiectisis was all I had to do. However in March 2015 I finally had my proper diagnosis, Hyper IgE syndrome caused by STAT 3 mutation. This was a little different. This wasn’t something I had ever heard of and it was overwhelming. I sat in the consultation room with my consultant, a registrar and my mum.  My mum didn’t know what this was and that scared me. I didn’t know what to think, I had no idea what this was! It didn’t feel as positive as my first diagnosis. I walked out of the hospital, looked at my mum and burst into tears. I was so shocked. I really didn’t expect to be going to the hospital that day and have to take in so much. Having someone there to explain it to me better and someone who I could have asked questions to after would have really helped.

Feeling angry

For a few weeks after my diagnosis I just felt angry at all my friends and I spent a lot less time with them. I couldn’t understand why they wouldn’t talk to me about it and why they didn’t understand or know what to say. I instantly labelled them as selfish. They aren’t selfish. I have absolutely fantastic friends but they aren’t doctors and they aren’t sociologists. They’re learning just like I am! I know that if I spoke to my friends and I needed something, they’d be there in an instant!

Its impact on my relationship with my mum

I also felt a lot of the time that my mum was making it her own problem. This made me angry as I felt that she wasn’t involved and that she was trying to give an opinion on something she knew nothing about. My mum knows me better than I do and in fact, a lot of the time she was just worried about her little girl, probably more worried than I was at times!

Coming to terms with my diagnosis

I often felt very anxious and worried. I couldn’t relax, I couldn’t sleep and I filled my time with schoolwork and exercising. I constantly found things such as spots on my body and instantly concluded that I was ill and that there was something the doctors had missed, that they hadn’t diagnosed. I felt that no one could relate to me and that I was on my own in all of this. Why wouldn’t my body just work properly!?  The truth is, there are many more people out there less fortunate that I and at the time I was just trying to come to terms with what I’d been diagnosed with. 

My glass is half-full not half-empty

I now feel very good! The best I have in ages, I still get strange head pain, which can’t be explained, and my stomach gives me trouble, I have sinus pain and I also feel very tired (but then I am a teenager). I am still going for tests such as bone density tests and head scans, but these are just to find out more about my body and how we can further fix the way I am feeling. I will never be a victim of my condition and I won’t become so engulfed by it that I become a glass half empty. I am ‘oh Victoria’, I will probably carry on surprising doctors; I will always be a fighter – I’m still here aren’t I! I always look on the bright side of life.

My top tips

  • Diagnosis with a primary immunodeficiency can come as a shock. Remember it takes time to come to terms with it and if you are like me you will be angry and upset. This is normal.
  • You may want to cut yourself off after the news but don’t!  Try and talk about the way you feel.  If you are not at that stage try and reach out by writing down your feelings in a diary (which really helped me) or find something that you like doing that enables you to get your emotions out. 
  • Your diagnosis is personal but it will have an effect on your family and friends. They may not want to talk about it with you or not know what to say. Don’t think they are being horrible they just might not know how to handle this too. Remember they still love and care for you. Put yourself in their ‘shoes’. Just acknowledging this is happening will help open up a dialogue with them. 
  • Join a support group. They will help you and give you the reliable information you need. 
  • If you get really down or feel very worried and it’s interfering with your sleep, making you not want to socialise or do the usual things you enjoy please do tell someone and seek help. 

You can read Victoria's mum perspective on her daughter's diagnosis here.


Posted May 2015