Our IDF Walk (Denver) - Team Stars & Stripes - XLA Awareness

Stars & Stripes

Our son Jake was born in the spring of 2019. As far as we knew he was a perfectly normal baby boy, but as Jake approached 6-months he began to get sick…a lot. It got to the point where he was sick more often than he was healthy. Every trip to the doctor’s office seemed to have the same result – a prescription of antibiotics and the message that, “this is just what happens with daycare, kids get sick.”

After a few more months and trips to the doctor, including several trips to urgent care, a pediatrician finally noticed lesions had developed under his tongue – a potential sign that there may have been an issue with his blood. She ordered a blood draw and x-ray of Jake’s chest. The blood draw would eventually show an adenovirus infection and the x-ray showed double pneumonia.

Natalie was advised to get Jake to the ER as soon as possible. Jake was admitted to the hospital, and I was recalled from a military deployment on emergency leave. The night I returned home, Natalie went through something a mother should never have to – Jake experienced respiratory arrest in her arms. We are forever grateful to the respiratory team that took swift and decisive action, saving our little boy’s life and clearing his airways.

Jake was moved to the Pediatric Intensive Care Unit (PICU) where he spent several days covered in wires, with a nasal cannula taped to his face, a feeding tube down his nose, and a PICC line delivering medication into his bloodstream. Jake slowly gained strength in the PICU and his coughs began to be accompanied by smiles and giggles – two things that he hadn’t done in a while. While in the PICU Jake was diagnosed with X-Linked Agammaglobulinemia (XLA) – it wasn’t “just daycare”. We weren’t going crazy, there was a reason Jake was always sick.

XLA is a “primary immunodeficiency” (PI). People with XLA (usually biological males) lack the ability to produce antibodies, making them more susceptible to recurrent and severe infections. Although there isn’t a cure for XLA, the condition is manageable through IgG replacement therapy.

We are happy to say that Jacob has already celebrated his 3rd birthday thanks to his IgG replacement therapy and the excellent care of his medical team. But our family’s journey with XLA isn’t over.

XLA is a rare condition – education and outreach to increase understanding and awareness of the disorder are critical to the quality of care and life for people living with XLA. Newborn screening for PIs like XLA can alleviate the physical, mental, and emotional trauma that delayed diagnoses can have on people with XLA and their loved ones. And finally, because XLA requires life-long treatment, advocacy for public policy programs concerning medical insurance and patient access to treatment options is critical to positive outcomes, including the opportunity for a full and fulfilling-life that all people living with XLA deserve. These are just some of the challenges that the Immune Deficiency Foundation (IDF) seeks to address, and why supporting IDF is so important to our family.

IDF aims to make for a better world and life for the millions of people like Jake who are living with PI – and it is in this spirit that we humbly ask that you consider supporting our participation in the "2022 IDF Walk for PI" in Denver, Colorado.

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Why Zebras? The PI community often identifies with zebras. This is based on an old saying. In medical school, many doctors learn the saying, “when you hear hoof beats, think horses, not zebras” and are taught to focus on the likeliest possibilities when making a diagnosis, not the unusual ones. However, sometimes physicians need to look for a zebra. People with PI are the zebras of the medical world. So IDF says THINK ZEBRA!

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"Dr. Ogden Bruton was a pediatrician at Walter Reed Army Hospital in the early 1950s when he first saw a young boy presenting with recurrent lung infections. Testing revealed that the boy had no circulating antibodies in the blood, making it difficult for his body to fight infection. The boy’s disease became known as X-linked a-gammaglobulin anemia – or Bruton’s Agammaglobulinemia – and its identification was heralded as an important medical discovery, even being featured as such by TIME magazine in 1953."

"X-Linked Agammaglobulinemia (XLA) was first described in 1952 by Dr. Ogden Bruton. This disease, sometimes called Bruton’s Agammaglobulinemia or Congenital Agammaglobulinemia, was one of the first immunodeficiency diseases to be identified. XLA is an inherited immunodeficiency disease in which patients lack the ability to produce antibodies, the proteins that make up the gamma globulin or immunoglobulin fraction of blood plasma."