Bianca’s Story
With two children, both suffering from recurrent infections and various other illnesses, Bianca instinctively knew there was an issue. Her is her story…
“Genetic testing revealed that both of Bianca’s children and herself have a NFKB2 gene variant that is associated with Common Variable Immunodeficiency (CVID) due to NFKB2 deficiency. In January 2020 they all received their diagnosis of CVID, and four months later, in the middle of the COVID-19 pandemic, they began subcutaneous immunoglobulin infusions.”

Nathan and Bianca have two inquisitive, adventurous and mischievous children, their son aged 10, and daughter aged 6. Oliver was a miserable baby, suffering from reflux and food allergies and often was unable to sleep for longer than an hour due to his severe pain. He was then a very unwell toddler, suffering regularly from viruses, recurrent ear and chest infections. Mya also suffered from reflux and food allergies however she was a happier baby. She also suffered from recurrent illnesses with many ear infections. Their childhood illnesses mirrored Bianca’s. She remembers regular visits to her local GP, lots of antibiotics, lots of days off from school and regular doses of ghastly cod liver oil in an attempt by her Mum to keep her healthy!

In 2019 Oliver became very unwell with a skin infection. One school sore escalated into a large skin infection and it took seven weeks of antibiotics, antibiotic cream, steroid cream, oral steroids and antibiotic wash for his immune system to fight off this infection. This led to Bianca demanding, for the third time in her son’s life, a referral to the Paediatrician for investigation of his immune system. 

Their next step was a Paediatric Immunologist. Armed with Oliver’s medical history, which included a typed document outlining every illness that he had suffered in the last 12 months, Bianca’s family travelled to Brisbane. Within 30 minutes of their appointment with the Paediatric Immunologist, she queried a family history of immunodeficiency and suggested a referral for Oliver to the Children’s Hospital for a case review. Genetic testing revealed that both of Bianca’s children and herself have a NFKB2 gene variant that is associated with Common Variable Immunodeficiency (CVID) due to NFKB2 deficiency. In January 2020 they all received their diagnosis of CVID, and four months later, in the middle of the COVID-19  pandemic, they began subcutaneous immunoglobulin infusions. 

Bianca is very excited to say her children have achieved an excellent level of health, both now tracking well for their height and weight. The children have only had two viral infections in two years and both infections were easily managed with just one course of antibiotics. This is the first time in the children’s lives they have had a break from constant illness and antibiotics. Bianca and her husband have chosen to keep the children learning from home via distance education and home schooling as they wait for the COVID-19 pandemic to resolve. They believe it is the combination of SCIg and isolation from others that has resulted in their excellent state of health.

2020 was definitely a stressful year for Bianca. COVID-19 stress combined with confirmation that they have a chronic health condition while learning to administer SCIg for herself and both her children. However, she is so very grateful for the amazing immunology and allergy team at the Children’s Hospital who have provided the most excellent medical care for her children. Bianca says she is also so thankful to have found IDFA and says her regular involvement in IDFA activities help her feel less isolated and alone in her family’s medical journey.

Published: April 2021.