Bianca’s family diagnosis

Nathan and I have two inquisitive, adventurous and mischievous children, our 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 with reflux and food allergies however was a happier baby. She also suffered with recurrent illnesses with many ear infections. Their childhood illnesses mirrored my own. I remember regular visits to my local GP, lots of antibiotics, lots of days off from school unwell and regular doses of ghastly cod liver oil in an attempt by Mum to keep me 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 me demanding, for the third time in his life, a referral to the Paediatrician for investigation of his immune system. 

Our 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, we travelled to Brisbane. Within 30 minutes of our appointment with the Paediatric Immunologist, she queried a family history of immune deficiency and suggested a referral for Oliver to the Children’s Hospital for a case review. Genetic testing revealed that both my children and I have a NFKB2 gene variant that is associated with Common Variable Immunodeficiency (CVID) due to NFKB2 deficiency. In January 2020 we all received our diagnosis of CVID, and four months later, in the middle of the COVID-19  pandemic, we began subcutaneous immunoglobulin infusions. 

We are very excited to say we have achieved an excellent level of health for the children, with both now tracking well for their height and weight. We also have been able to avoid illness and antibiotics since May 2020! This is the first time in the children’s lives they have had a break from constant illness and antibiotics. We have chosen to keep the children learning from home via distance education and home schooling as we wait for the COVID-19 pandemic to resolve. I believe it is the combination of SCIg and isolation from others, that has resulted in our state of health.

2020 was definitely a stressful year. COVID-19 stress combined with confirmation we have a chronic health condition while learning to administer SCIg for myself and both children, has definitely led to more grey hairs! However, we are so very grateful for the amazing immunology and allergy team at the Children’s Hospital who have provided the most excellent medical care for our children. I am also so thankful to have found IDFA and credit our regular involvement in their activities for helping me feel less isolated and alone in our medical journey.

 (Published April 2021)