XLA: This Father Helped Identify the Disease That Killed His First-Born Son—and Saved His Youngest in the Process

According to a story from USA Today, Thanksgiving 2009 was a harrowing time for the Anderson family. About a month earlier, Darrin and Sarah Anderson’s oldest son Henry had died after receiving an emergency heart surgery. For the last few weeks, Darrin had been working tirelessly to figure out what had caused Henry’s death, as there was evidence that it could affect Jack, their younger son, as well. His efforts would ultimately help lead him to a culprit: X-linked agammaglobulinemia (XLA).

About X-Linked Agammaglobulinemia (XLA)

XLA is a rare genetic disorder that compromises they body’s ability to fight infections. As an X-linked disorder, males are much more frequently affected than females. The disease is linked to mutations of the Btk gene. As many as 50 percent of XLA cases are inherited, but it can also appear as a random mutation. Without treatment, XLA patients are at risk of developing serious and even potentially fatal infections. Evidence of the disorder first appears early in life at around six months. Symptoms include abnormal, recurrent infections that refuse to resolve, lymphoid hypoplasia, and low levels of immunoglobulins. The primary treatment for XLA is intravenous immunogloblin (IVIG). It is administered on a monthly basis and patients must receive these infusions for the duration of their lives. Antibiotics are used to counter infections and vaccines that use live pathogen samples should be avoided. To learn more about XLA, click here.

A Race Against Time

After Henry’s death, Darrin lived in fear that their surviving son Jack would be doomed to a similar fate. They presented similar conditions at birth, such as jaundice and unusually low iron levels. He also learned that there was a history of boys dying early in life from infections in Sarah’s family. After Darrin consulted with a doctor, Jack soon underwent a number of tests in order to detect possible abnormalities. It was found that he had shockingly low levels of antibodies in his blood. A final test confirmed that Jack had XLA. 

That night, Jack, who was 18 months old at the time, received his first IVIG infusion. Now eleven years old, he continues to receive regular infusions and otherwise lives a fairly typical existence. XLA is not a condition that is regularly screened in newborns, but since XLA has an effective treatment, such screenings could help save patient lives.

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