The life-changing effect of immunoglobulin therapy
Imagine knowing that common childhood infections could be life-threatening for your child. For some parents of children living with a Primary Immunodeficiency (PI), this is a reality.
PIs are rare diseases that occur when a person’s immune system is absent or doesn’t function properly. For example, many children affected by PI don’t produce normal levels of antibodies (immunoglobulins) to protect them from infections. This is called hypogammaglobulinaemia.
The good news is, most children living with hypogammaglobulinaemia can be treated with regular immunoglobulin therapy. Immunoglobulin is extracted from human blood plasma, processed from donated human blood. When a child is given immunoglobulin, their body can use replacement antibodies from other people’s blood plasma to help protect them from infection and illness. Improvements in the administration of immunoglobulin therapy also mean that many children dependent on regular infusions of immunoglobulin now have the option of weekly injections under the skin which can be administered at home, meaning they can avoid the travel, disruption, costs and hospital stays required for monthly intravenous therapy.
Fourteen year old Brigitte was diagnosed with hypogammaglobinaemia when she was two years old. Dr Brynn Wainstein, SCH Immunologist says with hypogammaglobinaemia the immune system has trouble producing an important antibody called IgG, the main antibody that protects against infection.
“Early diagnosis, like in Brigitte’s case, is important as it enables people with a PI to access life-enhancing treatments like that will improve their quality of life,” Dr Wainstein says, “For many kids with a PI, immunoglobulin replacement therapy allows them to live a normal life, protecting them from severe life-threatening infections when their own immune system isn’t able to.”
World Primary Immunodeficiency Week runs from 22 – 29 April, an opportunity to remind people of the importance of blood and plasma donation, and the difference a donation can make to people living with a PI. Dr Wainstein says he encourages people to donate blood and plasma. “Blood and plasma are both scarce and valuable resources, I would encourage people to donate when they can.”
Below, Brigitte’s mum, Rebecca, shares their family’s story.
Brigitte has a warm, super friendly fourteen year old, and will try her best at whatever is thrown her way. She loves anything to do with animals, sports, especially swimming and body boarding, and she is currently doing singing and contemporary dance outside of school.
When Brigitte was admitted to SCH at just three weeks old, we didn’t realise it was the start of a lifelong journey for her of being in and out of hospital.
Brigitte has a very rare chromosomal abnormality (with no name) which was discovered when she was two weeks old. This is what has likely caused her primary immune deficiency, which is called hypogammaglobinaemia, a diagnosis we received when she was two years old, after two long years of struggling with her health and trying to find answers as to why she was so sick all the time. This diagnosis was complicated, due to her other health issues at the time, and her moderate intellectual disability.
Prior to Brigitte being diagnosed, it was so stressful having her being sick all the time, and me not being able to get to the bottom of what was causing it. I struggled to see her struggle, and to not be able to provide any relief for her was heart-breaking and isolating.
Our lives changed when Brigitte was finally diagnosed and responded well to treatment, which consists of regular infusions of immunoglobulin. Without this, common childhood infections, that others don’t need to worry about, could be a significant health concern for Brigitte.
Once her treatment began, we were able to start embracing life rather than existing, not worrying about whether a playdate with a friend could end in severe infection. These infusions enable Brigitte to live life to her full potential, and she has so much to share with the world.
She has even been able to go on holidays- pre-diagnosis we had to second guess even a family gathering. She loves school, loves her dance classes and learning to sing. She goes on school holiday camps and has a wonderful network of friends and family. This is a lifelong condition for Brigitte, and now she takes her infusions subcutaneously it means minimal medical intervention, and Brigitte is able to embrace all the opportunities presented to her.
Brigitte’s treating team Immunologist Dr Brynn Wainstein, and Clinical Nurse Consultant Geraldine Dunne are both such amazing clinicians and I’m so grateful they are holistic in their approach to Brigitte - they see her as a person, not just an immune deficiency, and treat both her and me with respect and dignity.