XLA: A Patient’s Perspective
The Johnsons look like a picture-perfect family, but behind the smiles, this family faces the daily challenges, heartbreak and loss that come with a diagnosis of primary immunodeficiency
- By Trudie Mitschang
LIKE ANY YOUNG couple, college sweethearts Jessica and Bart Johnson dreamed of starting a family. More than a decade later, Christmas card photos show a picture-perfect clan: Emma, 11, Andy, 9, Matthew, 5, and Gavin, 3. But the smiling faces don’t tell the whole story; missing from the photo is their third child, Ethan, who passed away in 2006 from complications caused by X-linked agammaglobulinemia (XLA), a rare primary immunodeficiency.
The Johnsons’ first son, Andy, was frequently sick with colds and sinus infections. Although Jessica suspected something was wrong, she assumed an immune system problem would have been diagnosed during newborn screenings. But when Ethan was born two years later and displayed the same symptoms, she grew concerned. Ethan was 8 months old when he and Andy contracted septic adenovirus infections and were sent to the University of Minnesota Hospital, where they were diagnosed with pneumonia and an uncommon but serious blood disorder called hemophagocytic lymphohistiocytosis. By the time doctors identified XLA as the underlying cause, Ethan tragically succumbed to his infections. Thankfully, physicians were able to save Andy.
Understanding and Treating XLA
XLA was one of the first immunodeficiency diseases ever identified. First described in 1952 by Dr. Ogden Bruton, XLA is sometimes called Bruton’s agammaglobulinemia or congenital agammaglobulinemia. XLA is rare; it is estimated that only one in 200,000 babies will be diagnosed. Jessica and Bart were told it occurred in one out of every four births when the mother is a carrier, so after two of their boys were born with XLA, it seemed the odds were in their favor. As the couple soon learned, that was not to be. “We had two more boys after Ethan passed away, and both of them have XLA,” says Jessica. “We ended up with four out of five; our oldest child, Emma, is healthy.”
Managing Treatment
XLA is an inherited immunodeficiency disease in which patients lack the ability to produce antibodies; however, patients can be given some of the antibodies that they are lacking in the form of immune globulin (IG) administered intravenously (IVIG) or subcutaneously (SCIG). Jessica administers SCIG to her boys at home, a method she finds fits best with her busy family. “We do infusions every Friday,” she explains. “When Andy was first diagnosed, he had a Hickman catheter, and he got IVIG once a month with a nurse. Once the catheter was removed, I started doing SCIG infusions myself — each time I had a new baby with XLA, I just added them to the lineup.”
Accepting a New Normal
Raising four children is a daunting undertaking, even under the best of circumstances. When three of those kids live with a chronic illness, the task can feel overwhelming. Jessica and Bart say surviving the loss of a child has helped them put everyday concerns into perspective. “The little things that used to send me through the roof with worry are no longer that big of a concern,” says Jessica, who adds that other than the infusions, their lives are fairly normal. “Every day I wake Andy up first, because he has to do a half-hour treatment with his Vest Airway Clearance System. His pneumonia was so bad when he was little that it permanently damaged some of his lung tissue. Then I get Emma and Andy off to the bus stop and spend the rest of the day running after Matthew and Gavin. After school, we’re doing sports, piano lessons, homework and supper, not necessarily in that order!”