Why I started this blog was incredibly important to me. But it’s been years now. 

Now we know that our D remains 1 in 7.4 billion. Our mitochondrial disease is not his primary diagnosis but a symptom of an underlying condition. Just another layer of the onion so to speak. As of 9/16 it may be a symptom of Kilf1a on the second chromosome (a mutation that both Hugh and I share). Not much has been researched about this mutation. As a matter of fact, the papers that have been published should not be googled. Especially by a parent.  In none of the existing publications is there any correlation to a mitochondrial dysfunction that we have very clearly seen in Danny when we did his muscle biopsy in 06 and subsequently treated. 

Again our Danny is on the cutting edge of science. 

So we continue to put our faith in folks much much smarter than us. 

And we put our faith in our middle Marrtian.  

Mr D always continues to surprise us.  And our team of “experts”

And we continue to document our lives. But now it’s also for the next family who happens to hear about KILF1A and our experiences so they may take our history to their docs as a clue for how the help their child….

~~~~

So, seven months and almost 20,000 hits ago I started this public blog. I was trying to do my part to educate the world about our life, I was thinking that if I could give just a few people a glimpse of our day-to-day existence, maybe they would share and by the time Danny becomes an adult, the world would change a bit.

Then we lost Janie.

Kim’s cancer became worse.

So it also became a place where my children could know me better. Let’s face it, it takes years to understand decisions that the adults make in your life when you are a kid. Because of how tenuous things can be, this was also serving as a message to my children when they were a bit older. I was hoping to explain the why we do the things the way we do them, just in case.

Somewhere along the way, writing this and putting it into cyberspace became cathartic. Similar to “putting words in the bubble and watching the bad float away”

Here is the good, the bad, and the funny.

~Laura

2 responses »

  1. Hello! My name is Melissa, I recently started a blog following my son Riddock’s journey through the diagnosis and treatment of a currently unknown neuro-metabolic disorder (Mitochondrial Disease is currently a likely culprit). I wanted to thank you for your blog that I will read through and learn from while we are going through this. Best of luck and love to your family and Danny.

    Like

  2. Hello,

    My name is Amanda. I am a student at UGA with mitochondrial disease; I was diagnosed in 2010. I know personally how tough the struggle for diagnosis is and how treating the symptoms this disorder causes is another battle entirely.

    One of the most important parts about my diagnosis was realizing I wasn’t alone in the struggle with this rare and mysterious disease. I’ve been working for the Foundation for Mitochondrial Medicine since May of 2013. Their website is http://mitochondrialdiseases.org/. They provide a lot of information about treatments and research about mitochondrial disorders that you may find interesting.

    Please, feel free to contact me anytime at anc19@live.com. I would also be happy to help you if you would like any advice about dealing with this disorder; I have had practice since 2008.

    Thank you for your time,
    Amanda

    Like

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s