Cystinosis is a rare, inherited, metabolic disease that is characterized by the abnormal accumulation of the amino acid cystine in each cell. The build-up of cystine in the cells slowly and eventually destroys all major organs of the body including the kidneys, liver, eyes, muscles, bone marrow, thyroid and brain. Although medication is available to control some of the symptoms of this insidious disease, Cystinosis remains incurable.
Friday, May 18, 2007
I often struggle that if I'm going to write about Holt and his condition then isn't it also fair to give a holistic view into how we are trying to deal with this new life? At an idealistic level, I guess that my hope is that, in some way over time these posts will provoke you to slow down a little and think a little bit differently about the world in which we live and the people in it. Maybe it will enable you to make your own changes in a meaningful and positive way- or at least to truly appreciate the "what we have" instead of the "what we want".
The words "failure to thrive" are taking a toll on Chrissy. It's hard to relay the internal despair that I experience when I look into her soul. She has this incredible will, laser focus, tireless dedication and enthusiastic spirit and I know that as hard as she works and as much as she puts into it; that she ultimately feels helpless... it's maddening to me. She sleeps with a cell phone next to her ear every night- wakes up at 4am to deliver the worst tasting, worst smelling meds to an 18 month old child that she has to wake from a deep sleep; calm, force feed, and comfort him back to sleep...and then she starts her day. I don't know what other people do in situations like this; I cannot imagine all of the different coping mechanisms that people use to try to get back a semblance of normalcy when facing true infinity. I guess we will keep learning. It's important to me for you to know what an amazing person, wife and mother that Chrissy is. Never in my wildest dreams could I have imagined being able to live my life with someone who is as patient, kind, devoted, caring and talented as she is. She is a one of a kind; the real deal and I'm the luckiest man in the world to be able to walk lock-step with her.
I do know that Holt's condition has changed the physical nature of our lives but I haven't concluded yet how it will shape our life purpose, goals and objectives. The easy answer is to go straight to research funding-but I want more than that for Holt; he deserves more than "just a cure"-- he deserves a better conclusion than what he is signed up for. At least, I want him to be able to live his life knowing that because of him, other people are able to be...better people. Is there a better legacy to leave than to enable a positive change in others and for them to reflect that change in others?
Until next time, thanks.