An eye-opening loss.

I found out this morning that a cousin I never met died from complications from an autoimmune condition that runs in our family--and that I have, along with my mom, brother and sister--called hereditary angioedema. It's a swelling condition, and, while I don't have all the details, what happened to my cousin is that his throat swelled shut, and he died. He was 19.

As you can imagine, it throws me for a loop when I hear about someone dying from something that I have. Unfortunately this isn't the first time I've been in this situation--I know many people who have died from complications from juvenile arthritis. My angioedema has historically been pretty mild and manageable. I have been lucky. But this is a disease that my mom, brother and sister all have as well, and it's not always as gentle to them as it has been to me. Especially to my mom. It terrifies me to think about the possibility the same thing could happen to one of them, or even to me. And this is a disease for which there is no cure, and that is so rare that treatments are practically nonexistent.

There is a clinical trial at MCV for a new medication for angioedema that I'm enrolled in, and ever since I heard the news, I keep thinking, "That drug could have saved his life." Instead, he died in the hallway of a hospital not 20 miles down the road.

I don't talk a lot about how I feel about my two autoimmune conditions or how serious either of them could be, because it seems like a big enough burden for me to bear on my own... there's no reason to worry anyone else. And quite honestly, I don't often worry about it for myself. I am, again, very lucky and healthy for the most part. But when I was talking to Bryan about what happened to my cousin this morning, I sensed a little worry on the other end when I mentioned the "this could have been me" sentiment. I couldn't help wondering when I got off the phone if he was thinking about the children we hope to have one day, because talking to him about it certainly made me think about them.

The statistics are that any child I bear has a 50% chance of being born with hereditary angioedema. The chances of my children having juvenile rheumatoid arthritis are significantly lower (if they exist at all), because I sort of hit the lottery and got that as a recessive part of the angioedema gene--that's not something I'm likely to pass on. I have often thought the HAE gene must be stronger in my family since all three of my mom's children got it AND my uncle's child got it, but I trust science and there is certainly the possibility that my family's coin flips just landed that way. My brother and sister and I have always been able to cope well with our disease, we have never been so sick that we were incapacitated for more than a couple of days. My mom, on the other hand, has fought horrible swelling episodes that leave her housebound for many days at a time and have sent her to the hospital more times than she can probably count. She has felt the disease was about to take her life on numerous occasions. My cousin had it worse than any of the rest of us ever did, and although I never knew him, I always heard stories of his struggles.

So, I wonder often, if I did pass this down to a child, how could I possibly know what lot he or she would have? Will there be medications approved by then that would prevent any serious problems? Would he or she just have the issues that I have, which are totally manageable? Would knowing the answer to these questions change mine or Bryan's desire to have a family?

These are obviously questions that my husband and I have thought about, and will need to continue to think about. I don't know the answers. Even if our children don't inherit this disease, there are a million other problems children are born with that could have nothing to do with either of us. My rheumatologist encouraged us to go speak with a genetic counselor, and I decided not to a couple of years after asking myself this question: If I knew my children would have the problems that I have had, would I still have them? The answer is yes. I love my life, I am extremely happy, and I believe the medical problems I've had have made me a stronger person, better equipped to handle whatever life throws my way.

Still, my cousin's death saddens me and is a reminder that life is not as simple as I'd like it to be. It opens the door to many questions, some about the bigger picture of how this could happen in the United States in a hospital, others that are about the smaller picture of my own family choices. Each of those questions leaves me with a heavy heart today, and many prayers for my cousin's family, especially those on my side of the tree.


JYNX'd said...

i am really so sorry for you and your family for losing your cousin. i understand your fears, but i really, really, always respect and admire your positive outlook. ((hugs))

Mymsie said...

So sorry about your cousin. :( My Dad is bi-polar, so I too worry about passing that on to my theoretical children. It's a lot to think about.

Janet said...

I have HAE as well as my daughter who is 16... The HAE Association works to make new medications readily available to you, your family and all HAE patients. I heard of your cousin's death from Jenny and I extend my deepest sympathies to you.
The horizon is bright, tho, I want you to know! We all want to see the day when no one dies and no one suffers and no one has to worry about bearing children who might be genetically unlucky. And we are right on the cusp of that achievement, so take heart.

nikole said...

I'm so sorry for the loss of your cousin, and for all that you're wrestling with right now. Your strength and courage are very inspiring.

I was faced with similar feelings a couple of years ago when my 24-year-old stepbrother died unexpectedly from an asthma attack. I have asthma too, and it made me face up to how serious it can be. It's scary.

Thinking of you lots and sending lots of warm thoughts to your family.

Cassandra said...

I remember your grandpa had it bad too, right? (my uncle Arthur) I hope that hospitals/ERs take note of how serious and FAST the reaction time is and have the correct protocol in place. The fact that the condition is rare is not an excuse for not managing the emergency when presented.