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.|
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.