Afflict the comfortable to comfort the afflicted

With the diagnosis of PDH deficiency Cara is the victim of a staggeringly unlikely series of unfortunate events.  While it would be momentarily palliative to use this occasion to restate my own agnosticism that would be self centered and counterproductive. However, this event has still prompted me to think about what we as a family need to thrive going forward. We thankfully find ourselves in a wellspring of medical support and therapeutic interventions, but given there is no cure we’ll continue to need emotional reserves and spiritual support for the long road ahead.

Of course, pity and platitudes will not get us to where we need to go. I would even go as far to say that we don’t need friends on this journey insomuch as we need allies.  Conscripts in the fight to carve out a corner of the world where life need not be as difficult for Cara as it would otherwise be.  A place where folks have the courage to practice empathy. Simple actions like dropping the word “retarded” your vocabulary, holding the door for someone in a wheelchair, or joining the “Carawatts” our Energy for Life Walk team.

Innovations have a hard time flowing from environments where there is a culture of denial of the problem space.  You don’t have to bring solutions to the ongoing difficulties faced by those among us with atypical abilities. Having the conviction and awareness to not be part of the problem is enough.

Diagnosis

Leaving baggage claim and still high on our magical Disney vacation, I look at my phone and notice I have email. At the top, is an email from Dr. K, “DNA results update”.

We have a diagnosis.

After over four years of testing, waiting, testing, waiting and more testing and more waiting, we have a diagnosis. A year ago samples of DNA from Cara, Dan and myself were sent to Utah for full genome sequencing. A mutation was found in the “PDHA1 gene that encodes one of the proteins in the pyruvate dehydrogenase complex.  In other words she has pyruvate dehydrogenase (PDH) deficiency.”  We knew from previous tests, how she presented and her response to the ketogenic diet that there was an issue with pyruvate metabolism. Thanks to Dr. K, Cara has already been on the treatment plan, the ketogenic diet, and has been responding as we hoped. The other piece of news we received is that neither Dan nor I are carriers of this gene. This was just really poor luck for sweet Cara.

Pyruvate Dehydrogenase Complex Deficiency (PDCD) falls under the umbrella of Mitochondrial Disease. Walking at The Energy For Life Walk in Seattle on October 4th just took on a new meaning.

We received the news 2 days ago. I knew I wanted to write something but I have been, and still am, at a loss for words. Yes, it is nice to finally have an answer and to know that neither Dan nor I carry the gene and that Natalie is in the clear. At the same time, there is a deep pain in my heart for Cara. The pain is not new, it’s been there since the beginning. Most of the time the pain is in the background but it came rushing to the forefront this day. I am in a place that is hard to articulate – not happy, not sad, not angry just a “Yup, this is where we are.” I guess it isn’t that I am not feeling any one of those particular emotions, but rather, all of them at once.