When your child has a rare disease that affects fewer than .01% of the population, it makes sense that most doctors won’t recognize it. It took more than a decade and a half until my son “Shmuel” was finally diagnosed with hereditary angioedema (HAE). For all those years, he suffered without explanation.
The first episode occurred when Shmuel was two years old. When I took him out of his crib, I saw that his foot was swollen. It was almost double in size and had grown so big that his ankle disappeared. It was hard to tell where his leg ended and his foot began.
We were concerned, but being that it was Shabbos and we didn’t want to go to the emergency room unless it was the only option, my husband asked a neighbor who was a Hatzalah member to come over and take a look. “You definitely need to get to a hospital,” he said when he saw the swelling. At the hospital, they diagnosed Shmuel with hand, foot and mouth disease, a mild, contagious viral infection common in young children. They suggested pain relievers and sent us home.
“I’m pretty sure the doctors are making a mistake,” I remember telling my husband. Shmuel wasn’t showing any other symptoms of hand, foot and mouth disease, but I guess the doctors had no other answer to give us. Within 24 hours, the swelling was completely gone.
We let it go—until it happened again a few months later. This time, Shmuel’s foot was so swollen that it looked like it might burst. He couldn’t step on it, and my lively toddler went from running around the house to crawling on all fours. The only comfort was that he didn’t seem to be in any pain. It was clearly uncomfortable to be unable to walk, but aside from that, he didn’t make a peep. This time the doctor said it was an insect bite and suggested Benadryl. We followed his advice, even though it didn’t make sense to us. Again, 24 hours later Shmuel’s foot was back to normal. He was able to tear through the house as if nothing had happened.
For the next few years, two or three times a year, Shmuel’s foot—and sometimes his hand—would swell grotesquely. Then 24 to 36 hours would pass and the swelling would recede. We had no idea what was going on. It didn’t help that the doctors didn’t either.
As Shmuel got older, he began suffering from terrible stomach pains. The attacks were sudden and severe. My little boy would get on the bus feeling fine and then I’d get a call from the cheder an hour later that he was throwing up. He was often in such agony that the bus driver would have to bring him home. He would collapse in a heap by the front door and couldn’t make it up the stairs to our apartment. He’d just clutch his stomach and wait for the episode to pass.
It always did. A day or so would go by, and Shmuel would go back to cheder.
We wondered if the two different kinds of attacks were related, but the doctors pooh-poohed the idea, as they seemed to have nothing in common. We went from doctor to doctor and did every test they suggested. Everything came back normal. We even tried going the natural route by taking Shmuel off gluten and dairy for a couple of years. Not only did he have no relief from the swelling or stomach pains, they were getting more frequent and severe.