Klaw has one of the more common fatty-acid oxidation disorders, VLCADD...not that "common" among rare disorders really means a whole lot. He has, for the most part, been textbook VLCAD deficiency, as far as his blood work goes. His newborn screening levels were so out of whack, there wasn't really a question about it being a false positive, which can occur. His follow-up blood work showed clear signs of VLCADD. His DNA mutation analysis merely confirmed what his specialists were 99.99% sure Klaw had.
So far, outside of the initial newborn screening, VLCADD hasn't thrown us any surprises. For that, I am grateful.
Well, there has been one surprise.
I have been surprised by the community of families living with the various mitochondrial disorders. I avoided looking into support groups until Klaw had his first hospitalization. I was still living the fantasy that Klaw would be asymptomatic and I wouldn't have to worry about all of the extra issues that come with VLCAD deficiency.
I avoided it out of fear. I was scared to hear what other families have gone through. I was scared to face the potential for worst-case scenarios. I was scared to face every aspect of Klaw's disorder.
I'm sure some of y'all that have known me for years find it difficult to think of me avoiding something out of fear (except for spiders); I promise it happened.
However, I'm glad I finally pushed through and I'm sad that it took a hospitalization to make me accept that I might need a bigger support group than just myself. The mitochondrial disorder & fatty-acid oxidation disorder support groups have been a resource of information, of new studies & treatments, and sometimes just "yeah, been there...you aren't alone" emails. If there's anyone living with mitochondrial disease, my single biggest piece of advice is to reach out to the support that is out here on the internet.
You aren't alone.
Yes, there are many many faces of mitochondrial disease and many different ways it will affect our lives. Our experiences are all unique but we can help each other push through the hard times and celebrate the blessings.
|This is our face of MITO|
I want to thank all of you reading this blog and these Mitochondrial Disorder Awareness Week posts. Each one of you is another person who is now aware of these rare diseases and can share this information with others. Early diagnosis, which brings early management, is the best defense we have against mitochondrial disorders right now.
Please keep sharing the information.
You never know who is reading (or listening)...
Mitochondrial Disease Awareness Week 2011 Guest Posts
The Day My World Stood Still - A father's perspective
LCHAD - A mom's difficulty in getting a diagnosis without the newborn screening
Wish GRANTed - A sister's determination to help her brother
A Great Day - A girl's day to day life with Mitochondrial Disease
He Looks Great! - My post about the dangers when doctors are unfamiliar with Mitochondrial Disease