We have four boys: Harrison (12), Holden & Langford (8) and Davis (7). Three of our four sons (Harrison, Holden & Davis – not Langford, Holden’s twin) have a genetic, inherited immunodeficiency called x-linked agammaglobulinemia, or XLA for short. XLA is in the family of “primary immunodeficiencies” or PIDs; this group includes other conditions. There are probably fewer than 200,000 people in the US who have some form of PID; there are fewer than 10,000 worldwide who have XLA. XLA is an immunodeficiency that affects only males.
Males who have XLA produce B-cells, but the B-cells never mature and so are unable to do their job. Their immune systems are basically only half effective. Without B cells, XLA patients do not produce immunoglobulins and are unable to fight off certain infections. Without treatment, patients are prone to multiple, recurring infections of the lungs, sinuses and other areas. There is no cure.
Luckily, there is an effective treatment: the patients get infusions of medicine that is made from donated human blood plasma and is then distilled to form a clear liquid that provides them with what they are lacking. They are all on a low dose of antibiotics, just prophylactically. Unfortunately, the infusion medicine they get (IVIG – intravenous immunoglobulin) needs to be administered often since their bodies use up the added immunoglobulins: for Harrison, who gets his medicine through an IV, this means monthly infusions. For Holden and Davey, we used to do weekly subcutaneous infusions, but have now gone back to monthly IVs.
The sub-q option is a great one for patients who can self-administer it, or who need less volume of the medicine. For us, with multiple kids to manage, it is actually easier to have one day a month that is infusion day, than remembering to do it every week, and sticking two kids in two sites. Now, we do a monthly infusion day for all three boys.
Holden and Davey get L-mx or Emla – numbing creams that reduce the sensation in the infusion site. We apply it several spots, but their hands seem to have good veins for now, and that is what the two of them prefer. Harrison has graduated from the creams, and likes the “stick” to go right in his arm, and he just sticks out his arm and gets that done. The IV infusion lasts about two to three hours, and the boys have small pumps that are put in bags, and they can be as mobile as they want (we have had soccer playing!) while they infuse.
Most important for us has been not to be viewed as a family with sick kids, or for the boys to feel that they are in any way prevented from doing anything. XLA is part of our lives, but it’s become about 95 percent rote: the way that other families might have kids brush their teeth, we have our boys line up for antibiotics (we brush teeth too, though we slack off on that sometimes – we aren’t superhuman, after all!)
Infusion day is a day to hang out at home and play: the “sticks” are almost beside the point. The boys can and do run around, play video games and have great snacks as they infuse. Outside of infusion day, the boys are as active as any other kids: they play soccer and go to school; they goof around, they take music lessons, they have lots of play-dates with friends, and they walk the dog, Darwin.
They have an incurable genetic condition, and yet they are 100 percent regular kids.