Hi, I’m Leah. I have activated PI3K delta syndrome 2 (APDS 2), which is a very rare primary immunodeficiency disorder caused by mutations in the PI3KR1 gene. I was diagnosed at 19 years of age, but I’ve lived with symptoms since I was 2 years old. Today, at 26, I’m a university student still navigating the challenges that come with this condition. 

My journey to diagnosis 

From a young age, I suffered from repeated chest infections, ear infections and persistent eye problems. The chest infections led to bronchiectasis and scarring on my left lung, rendering it largely non-functional. I needed frequent nebuliser treatments and, at one point, was offered a lung transplant. Due to the risks involved, I made the difficult decision to live with one functioning lung. 

Recurring ear infections meant that I needed grommets during childhood, and I wore a hearing aid throughout secondary school, although I don’t need one today. I also dealt with constant tearing in my right eye. Doctors tried inserting a tube to help, but it never stayed in place. 

One major issue was my immune system’s inability to produce antibodies needed to fight infections. To address this, I’ve had weekly subcutaneous immunoglobulin therapy injections for most of my life. 

My diagnosis came through the BRIDGE study, a clinical trial investigating treatment for APDS. Interestingly, my condition was caused by a spontaneous gene mutation – no one else in my family carries it. As my haematologist put it, it was simply a ‘stroke of bad luck’. 

Facing cancer after diagnosis 

When I was diagnosed with APDS, I was told that I had an 80 per cent chance of developing non-Hodgkin lymphoma before the age of 40. I tried to focus on being in the 20 per cent who wouldn’t. But just one week later, I noticed symptoms – swollen lymph nodes and severe bowel pain –that led to a biopsy. I was diagnosed with stage 4 non-Hodgkin lymphoma.  

Chemotherapy and stem cell transplant 

Before starting chemotherapy, I underwent fertility preservation to freeze my eggs. Then came six rounds of R-CHOP chemotherapy, which brought with it hair loss, weight loss, changes in taste and many other side effects. 

After chemotherapy, I received an allogenic stem cell transplant from an anonymous donor through Anthony Nolan. It is a life-saving gift, for which I will always be grateful. Not only did the transplant treat my lymphoma, but it also offered a potential cure for my APDS. 

I spent a month in isolation for the transplant, receiving intensive chemotherapy to wipe out my immune system. The day I received the donor stem cells is now my ‘rebirthday’, a day I celebrate each year alongside my actual birthday. 

Life after transplant: recovery and GVHD 

Following the transplant, I needed top-up infusions because my body wasn’t producing enough new stem cells. This led to a common transplant complication known as graft versus host disease (GVHD). It was a sign that the transplant was taking hold. 

A year later, I developed chronic GVHD, which mainly affected my mouth. For two years, I underwent extracorporeal photopheresis (ECP) to manage the GVHD. 

How the diagnosis saved my life 

Getting a diagnosis for APDS ultimately saved my life. Thanks to the transplant, I’ve now been in remission for six years. I’ve finished ECP, and I no longer need immunoglobulin therapy. 

However, the journey hasn’t been without lingering effects. I still deal with complications from bronchiectasis, including frequent breathlessness and chronic chest infections. I also experience chronic pain and low bone density – long-term effects of the transplant. 

My advice to others with APDS 

To anyone living with APDS: be your own advocate. It can take years to receive a diagnosis, so don’t ignore your symptoms. Prioritise both your physical and mental health, and don’t hesitate to seek emotional support when needed. 

Most importantly, connect with others who understand what you’re going through. Sharing your story and experiences can be a powerful way to raise awareness and feel less alone. 

What I hope for the APDS community 

I deeply wish there were more opportunities for people with APDS to connect. A charity-supported event or community network would be incredibly valuable, especially for young people who feel isolated – like I did when growing up. 

I also hope for earlier diagnosis and interventions for those with APDS 1 or 2. Treatments that could prevent complications, such as cancer or the worsening of bronchiectasis, would truly be life-changing. 

Posted April 2025.