Monday, September 19, 2011

Mitochondrial Disease Awareness Week: The Day My World Stood Still

Thank you for stopping by our blog during Mitochondrial Disease Awareness Week!  Every day this week will feature a post covering different aspects of life with mitochondrial disease.  I hope the posts are both informative and heartwarming.  Living with any rare disease is a challenge and the more information we can share will be helpful to others who are affected.  I hope you will share this information and spread the word about the blog posts.

At this time, there is no cure; we can only treat & manage the symptoms.  Many of the mitochondrial disorders are progressive and since developing additional testing through the expanded newborn screening (heel prick), these disorders are being caught early and often saving & prolonging the lives of the affected infants.

Today's post is from Chris as he details Klaw's birth and diagnosis from his perspective.


To celebrate Global Mitochondrial Awareness Week, I feel it appropriate to provide the whirlwind of emotions that I was dealing with when I found out Klaw was diagnosed with VLCAD. I have yet to mention it in any of my post thus far.

Anyone with a family who has to travel away from them for an extended period of time knows that it is not easy. That is, unless you don't really like your family and enjoy being away from them. That is not the case for me.

So let me tell you about what my life was like leading up to Klaw's birth and up to my finding out about his disorder.

Dana's due date was March 19th. I had been away from home since January 12th and finally pulled back into port on March 14th for two weeks. Well, March 19th came and went and no baby. I was afraid that I was going to head back out to sea before the baby came. Fortunately for me, Klaw arrived March 28th, the day before I went back out to sea for a few weeks and everything was awesome for those 24 hours.

Klaw just minutes after being born.
 The next few weeks brought excitement and anticipation knowing that I'd get to see my little boy again soon. During that at-sea period, my submarine pulled into another port and I was able to talk to Dana. My boat, as we submariners call it, was scheduled to change homeport to Connecticut a few months later, with Dana and Klaw planning on staying in Virginia for the year that I would be up there. During my phone call, Dana said, and I quote, "I know a way that you can get back down to Virginia sooner." I was thinking great! Of course, I knew there had to be a reason and a good one at that.

That's when everything changed for me. Shortly after I got home, Dana told me that the Virginia Newborn Screening Program had found that Klaw was born with a rare genetic metabolic disorder. I was speechless and didn't really know what to say. I let her explain the details of what she knew. I immediately took action to try to ensure that I got back to Virginia as soon as I could after the boat moved to Groton. Now I did get back, just not as soon as I would have liked.

This was the day Dana told me about Klaw's VLCADD

I'm not normally one for doing research unless it is required. Dana, always wanting to be well-informed (that's a trait of hers I wish I had) had found out a lot about VLCAD, as the disorder was called, through research. Honestly, all I wanted to know was whether or not my son was going to be able to live a normal life, i.e. play sports.

Dana continued to learn more about Klaw's disorder and she continued to teach me. In fact, most of what I know about it is through Dana. I know she hates that she is my only source of knowledge about VLCAD, but again, I despise research.

Well, to wrap this up, I will say that I was saddened about what she told me that April day. I questioned whether or not it was my fault and realized that if it were, I'm not perfect. That last part was a joke by the way.

What I did realize is that no matter how serious Klaw's condition was or was going to be, I love him.

He is perfect to me.
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