Zebras

This is a long story, so I'll just jump right in. If you've already heard it, feel free to skip to the next post. :)

In July 2013, Jack starting running a fever with no other symptoms. After running temp everyday for a week, we went to our pediatrician. She assumed it was something viral, and sent us home. Two weeks later, we were back again; still running fever. She gave him a full check-up and still couldn't find a source. After six weeks of still running fever, we starting running labs. SO MUCH LABWORK! I swear if it's possible to detect via blood test, we tested for it. Still nothing. After nine weeks of daily fever, it finally broke and was then recurring about 5 out of 7 days. Finally, on October 30th, we saw a pediatric rheumatologist at Children's Hospital in New Orleans. Jack's pediatrician was trying to rule this out because I have an autoimmune disease that manifests as moderate to severe joint pain, which doesn't show up neatly on labs.

The rheumatologist was very thorough and decided to run more labs. His initial opinion was not rheumatological, but instead related to his immune system. These new tests came back two weeks later; the doc was right. We were referred to an immunologist closer to home. In December, Jack was diagnosed with Specific Antibody Deficiency (of IgG). In my own non-medically-educated words...the immune system has several different types of immunoglobulin, which function as antibodies to fight different types of infections. IgG is the type of immunoglobulin needed to fight off viral and bacterial infections. A healthy immune system has 14 different IgG antibodies; Jack's body was only producing 3, and the amount of those three in his blood was barely traceable. His only physical symptoms were persistent, recurrent fever and little to no appetite, with a history of being resistant to antibiotics If you have no experience in Primary Immune Deficiencies, which we did not, you've probably never heard this expression. In medical school, doctors are typically taught "If you hear hooves, think horses," meaning, look for an obvious source first. Immunologists practice by the idea of thinking zebras instead of horses. Kind of cute, huh? Anyway, patients with P.I.D. call themselves zebras.

The first step of treatment for Jack was a booster shot call Pneumovax, which boots production of 23 different antibodies. He initially had a great response to the shot, but after 6 weeks was going back down. We decided to start immunoglobulin replacement therapy. We opted to have the medicine administered via subcutaneous infusions, which we can do on our own at home, versus IV therapy in a infusion suite at a hospital. Jack started treatment on June 9th, and gets an infusion once a week. We'll be rechecking labwork in another month to see if it's working. If it isn't, we'll be back at square one and will be referred to another specialist. If it is working, we'll continue treatment for up to 6 months, then take him off to "see what happens." From what we've been told, in some cases a few rounds of replacement therapy seems to clear up the condition, and no further treatments are needed. More commonly, the condition is life-long, but thankfully not life-threatening.

For more information about Primary Immune Deficiencies, please visit http://primaryimmune.org/about-primary-immunodeficiencies/.