My illness has given me the will to live

As a child the hospital became my home. I had recurrent infections and hospitalisations, beginning at five years old. I lived one week in my house and one week at the hospital. My mother had to teach me lessons there so I would not fall behind at school. I could not play with other kids. I lost my childhood.

My worst memories of growing up were of the pain. I had terrible difficulties breathing. It was difficult for my parents to work and take care of me and my two sisters. I found it hard to watch as my family suffered for me.

When I was 12 years old I had two recurrent infections with hospitalisation. The last one was severe. I had upper gastrointestinal tract bleeding. I felt very bad. I was referred to an immunologist and she diagnosed me with common variable immune deficiency (CVID). I was happy to get my diagnosis because I was so tired of going to the hospital and no one knowing what was wrong. With the diagnosis I felt hope. After that initial relief I asked many questions to try to understand why I had this condition. Why am I the only one with it in my entire family? Why me?

My family, although they were scared and had many doubts, were relieved that finally their daughter would get treatment. It was hard to find out that there was no cure for my condition. Today my biggest concern is my four year old son. It is a possibility that he too will develop this disease. The thought of this happening to my little boy frightens me.

I lived one week in my house and one week at the hospital. I could not play with other kids. I lost my childhood.

My relationship with my immunology team is excellent – they are very attentive, helpful, and professional. I have monthly intravenous immunoglobulin treatment with Octapharma's human normal immunoglobulin solution. Since starting treatment I don’t have recurrent infections any more. Before, I was just surviving, but now I am truly living. Today I live with no restrictions. My life has improved 100%. If I could change anything about my treatment, I would choose to do it at home.

My advice to someone newly diagnosed with CVID is: embrace this opportunity. In the beginning you may have many doubts but the immunoglobulin treatment will give you a new life and the possibility to live as you deserve. Now I can live a normal life just like anyone else. The treatment allows me to do everything. I can study, work, have a social life and dance samba. I can live!

If I met a plasma donor I would hug them and say thank you.

My illness has given me the will to live. It showed me how important my family is to me. My greatest passion in life is my son. Perhaps without this condition I wouldn’t have the same values and attitude. I might not have worked so hard to finish my studies. If my health had been better growing up, perhaps I would not have graduated in Law in 2015 and be a qualified lawyer today. My ambition is to be a chief of police.

I believe that in life everything is possible. Nothing is impossible in the eyes of God.

If my health had been better growing up perhaps I would not have graduated in Law in 2015 and be a qualified lawyer today. My ambition is to be a chief of police.

Patients usually need lifelong intervention with immune therapies to live healthier lives.

Dr Matthew Buckland, Consultant immunologist, Royal Free and Great Ormond Street Hospitals, London, UK

The immune system’s essential functions are to protect against infection, protect against cancer and prevent autoimmune disease. Primary immunodeficiency (PI) diseases are rare chronic disorders in which a part of the immune system is missing or doesn’t function properly. Patients usually need lifelong intervention with immune therapies to live healthier lives. By supporting the immune system, infections are reduced and patients are better protected against progressive tissue damage. Some people used to go into virtual hibernation to avoid infection, but with treatments such as immunoglobulin replacement they are more protected.

It is important to understand what the patient wants to achieve with therapy. It is easy to believe you are doing a good job as a doctor if you have managed to get immunoglobulin levels up, but that may not be what is most worrying the patient. If you understand what their life looks like, then you can see how to best to approach treatment.

Despite immunoglobulin replacement, some patients continue to get frequent or recurring infections. They can develop gut-related problems or inflammatory lung disease, which requires immunosuppression. The challenge is to prevent inflammation and at the same time the re-emergence of viruses or other pathogens. It can be a difficult path to tread.

My greatest hope is that we will be able to diagnose these conditions in early life before permanent damage is done. We have made great advances in understanding the genes involved in regulating the immune system. Newborn screening would allow us to identify and treat a condition before a child develops complications. In future we hope the affected gene could be edited, preventing morbidity and mortality in later life.

Immunology is genuinely fascinating and touches all areas of medicine. You get to know people and their families over many years, which is very rewarding.