17 May 2012

All in the Family

Eddie is getting stronger every day and we are so amazed by his will to recover. He is still a bit week physically because he hasn't walked since the first week of March, but he is talking, playing, and singing like a three year-old should. It's no surprise that he's charming the floor nurses just like he did in the ICU!

Overall, since he is making such good progress, our focus has turned to education and how to keep Eddie healthy once he comes home. Sarah and I meet with the transplant coordinators and transplant pharmacists almost every day to learn about and begin adjusting to life as a transplant family . . . so daunting. The medications, the lab draws, clinic visits, ECHOs, biopsies. The constant vigilance for symptoms of rejection, daily vital signs, educating friends and neighbors about his condition, and, most of all, doing what we can to help Eddie feel he is normal and can live a rich and full life.

Thanks for everyone's continued kindnesses and well wishes over the past two weeks, even though our updates have been less frequent. We know so many people are interested in and inspired by Eddie's progress. He is a remarkable boy and will grow up with so much gratitude for the love he receives from each of you.

On a seemingly unrelated topic . . .

One of the best undergraduate courses I took at BYU was Larry Wimmer's American Economic History, aka Econ 274 :-). Rather than walking through dry series of lectures on the Industrial Revolution, Reconstruction, or the Great Depression, Dr. Wimmer asked us to use our own family history whenever possible to document our ancestors' experiences and make 19th- and 20th-century American history that much more relevant and exciting.

For example, simply by using publicly available US census data, I was able to study immigration/emigration patterns for several branches of my family, infant and adult mortality rates, occupation trends, economic conditions, slave ownership, and literacy patterns. It was a fascinating way to study our family's history and understand how our ancestors shaped and, in turn, were shaped by American history.

So why do I mention this in Eddie's blog? Well, family history has been on my mind again as we've been talking to the Seattle Children's genetics staff about the possibility of inherited elements of Eddie's heart disease. Certain cardiomyopathies have strong genetic components and often are found in generation after generation of the same family. Other cardiomyopathies, such as Eddie's restrictive diagnosis, very rarely occur in families and root causes are often never discovered.

Several weeks ago, as part of Eddie's treatment, we sent blood samples to Harvard for genetic testing. Since the doctors had no specific idea of what they were looking for, all 46 of Eddie's chromosomes were analyzed for mutations and/or abnormalities. Based on the initial results, the Harvard lab believes they have isolated one genetic mutation that is (was) most likely responsible for Eddie's restrictive cardiomyopathy.

Personally, I was surprised by the results. We had done some very high level scanning of our family tree looking for unexplained deaths at an early age, chronic heart disease, etc. but nothing jumped off the page. After talking to the genetic counselor, however, I've been taking a closer look at my family history and am finding fascinating stories. Thanks to the miracle of the internet, Utah's well-organized death certificate archive, and the LDS Church's unfailing commitment to cataloging and making available historical records as fast as they can scan them, I was able to find detailed death certificates for 36 members of my maternal line in less than three hours. Totally fascinating.

Even more fascinating when you see something like the following death certificate for my great-grandmother's sister. She was only 26 when she died of unknown causes, "sudden but natural." As mentioned previously, one of the hallmarks of cardiomyopathies is their tendency to appear suddenly and without warning. Other common cardiac causes of death I've uncovered include myocarditis, coronary thrombosis, and coronary occlusion, several of which occurred at earlier-than-normal ages.


So not surprisingly, Sarah and I will be tested soon for the same mutation we found in Eddie. We're just learning about the genetic elements of this puzzle so really have no idea about what next steps would look like if we test positive other than probably testing the kids and the potential for increased cardiological monitoring over time.

More details as we have them . . .