HAE AND OUR FAMILY
Recently Canaan (at age 2) was diagnosed with Hereditary Angioedema (HAE), a rare disease of the immune system, which BJ also has. This condition is very rare but it is something we are familiar with and were aware could be passed down to our children. We weren't aware of how high that possibility was before we had children, but of course we wouldn't change a thing about our decisions. Our children are amazing blessings!
BJ once met a woman who also had HAE, and they knew immediately that they must be related. They were. The condition that runs so strongly through his family is incredibly rare (affecting approximately 1 in 10,000 to 1 in 50,000 people around the world). This is a huge part of the problem for many because there is a high rate of misdiagnosis, unnecessary surgeries, etc. Thankfully, BJ, his mom, and Canaan have not had to deal with that. However, there is still the difficulty of showing up at an ER, knowing you have a life-threatening condition and having the doctors be unable to just take your word for it, especially when it is something many doctors have never seen or heard of before.
ABOUT HAE
HAE causes attacks of spontaneous swelling that are often painful and severe. Locations of HAE attacks include most commonly the hands, face, abdomen & throat. From BJ's experience, attacks can be triggered by an kind of "trauma", even minor. This could be a stubbed toe, a sore throat, stress, and any number of common medications (benadryl, etc.). For some reason that we still do not quite understand, the condition can live dormant for years, coming to life typically in the teen years. This was the case for BJ's mom, but for him he was just 5 when the attacks first began.
DIAGNOSIS
HAE is called "hereditary" because it is caused by a genetic defect that is passed through families. When a parent has HAE, there is a 50% chance that his/her child will inherit the disease. From what we have been told it seems that if Ezra does not get the condition he cannot pass it on.
TREATMENT
Thankfully, BJ's condition has been relatively under control since he was 18 and able to begin taking a steroid-based medication. His last severe attack was in January 2011 when he ended up in an ICU in Denver while he was on a ski trip. Before then he had a lot more attacks (though many with HAE have it much worse than he ever did) and so we are so thankful this therapy is working for him. However, this medication is of course not an option for our baby boy.
There are new options and treatments being researched and developed every day. Thankfully we have a great doctor nearby who is familiar with the condition and has been a great help (though the long waits in his office to see him... not so fun). Our big prayer is that the disorder will not become 'active' in Canaan for a LONG time. If we can make it even a few years it will be a blessing. The current treatment for an attack would be an hour-long IV infusion. I can't even imagine going through that with Canaan right now at age 2.
But this is how blessed we are: "There are currently around 6,800 registered rare diseases, but only about 200 have FDA-approved treatments." - National Organization for Rare Diseases
