X-linked agammaglobulinemia (XLA), also known as Bruton agammaglobulinemia, is a rare genetic disorder that affects the immune system. It is caused by mutations in the gene that encodes Bruton’s tyrosine kinase (BTK), which plays a crucial role in the development and maturation of B cells, a type of white blood cell responsible for producing antibodies.
In individuals with XLA, the BTK gene mutation prevents B cells from maturing properly and producing functional antibodies, leading to a severe deficiency in immunoglobulins (antibodies) in the blood. As a result, affected individuals have compromised immune function and are highly susceptible to recurrent bacterial infections, particularly in the respiratory and gastrointestinal tracts.
Symptoms of XLA typically appear in early childhood, usually between 6 months and 2 years of age, which we saw in our first son, Jul. Unfortunately due to former extended family members going undiagnosed, XLA was not considered for Jul and therefore not tested for. He had a number of nasty infections in those first few years including meningitis and ITP but were considered in the realm of normal childhood illness. Unlike typical immune deficiency markers, Jul did not have reoccurrence of the same infections. Our second son Sahm, was not nearly as unwell as early on, but still with limited antibody production (again not diagnosed) suffered a number of infections including septic arthritis and cellulitis, and had a number of long stays in hospital.
Feeling overwhelmed, I went back to school to study health sciences. As I gained more knowledge, I became increasingly confident that holistic approaches—encompassing nutrition and effective lifestyle changes—could significantly improve my sons’ health. They not only began to recover but also started to thrive. When Zayd was born, I applied all the strategies that had proven successful for his brothers to him. As a result, Zayd has experienced no infections and no hospitalisations (he is 9).
By the time the boys were 4, 8, and 12, their determination and dedication had kept them infection-free for a considerable time, when a routine visit to a new immunologist sparked new interest and inquiries. He was the first doctor to suspect an immune deficiency. After ordering blood tests and genetic testing, we were stunned—yet in many ways relieved—to discover that the boys were diagnosed with X-linked agammaglobulinemia (XLA).
Although there is no cure for XLA at present, early diagnosis and proper medical management, including weekly subcutaneous IG infusions or monthly IVIG, can greatly enhance quality of life and lower the risk of complications from recurrent infections. For my boys, they have experienced substantial health improvements and reform as they consistently implement a number of holistic practices in and outside of the home. These practices include, but are not limited to, consuming nutrient-dense foods, raw juicing, using homeopathy, Ayurvedic methods, breath therapy, cold water therapy, daily exercise, and more.