“He Looks Great!”

Today I wanted to share the story of a different face of mito, a little boy nicknamed “Klaw”, who deals with a fatty acid oxidation disorder, or part of that metabolic cycle I talked about on Sunday, where the cycle doesn’t complete due to an inefficiency of the body to be able to break down fats into usable energy sources. His mom is here to share a little about what mito looks like for them, and how for so many mito kids, hearing the words “He looks Great!” can be just as hurtful as it is supposed to be helpful. Mito has been called an “invisible disease”, and it makes the hard work of these kids, and the caregivers and parents who pour heart and soul into their care, be so diminished. This is part of the educational aspect of awareness – learning that there are really so many moving parts to even the simplest of tasks. I hope you learn something new from Dana’s post, and then head over to her blog to find out even more! Leave her lots of love in the comments please! And, as always, thanks for reading!

 

He looks great!

A little phrase that most parents love to hear.

He looks great!

A little phrase that can be detrimental to the care of a child who lives with one of the many mitochondrial disorders.

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My son, Klaw*, popped positive for Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD) thanks to the expanded newborn screening in the state of Virginia. VLCADD is a fatty-acid oxidation disorder that prevents his body from metabolizing very-long chain fats (the tasty ones like dairy, breast milk, olive oil, etc) into energy.

He looks great!

He had four hospitalizations before he was a year old (two were for the same illness). Four emergency room visits. Four sets of medical professionals, only marginally familiar with his disorder, who all thought he looked great.

Children (and adults), like Klaw, can look great moments before they are thrown into a metabolic crisis and at risk of death.

He looks great!

Part of Klaw’s ER protocol for VLCADD states that he has to receive D10 (10% Dextrose) iv fluids as quickly as possible, regardless of his initial vital signs. Most people get D5 iv fluids but the caloric needs of Klaw and others like him necessitates a higher amount of sugar to prevent his body from attempting to metabolize stored fat.

One ER doctor who was so impressed with how great Klaw looked caused a delay of almost 4 hours getting these fluids to my son. This could have, literally, killed him. As a mere parent, I don’t have the authority to call the pharmacy and put a rush on things and my standing in the hallway in the middle of the night asking nearly everyone I saw when they were going to get my son’s iv hooked up did nothing. Feeling powerless over the care of your child is absolutely terrifying. Knowing that you understand the severity of your child’s condition more than the people who are trained to provide medical care to your child is absolutely terrifying.

He looks great!

Most days, I am so incredibly happy that his disorder is being managed well. He leads a fairly normal life. I’m glad that he looks great and is, for the most part, a healthy and active toddler.

Then I remember that he also looks great when he’s sick enough to require hospitalization, 24 hr iv hydration, and a PICC line.

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My hope is that by blogging about Klaw’s disorder and sharing information during Mitochondrial Disease Awareness Week, more people will understand these rare disorders and recognize the often silent severity of them. Please visit my blog Really, What Were We Thinking and feel free to follow me on Twitter at TheDanaK

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Comments

  1. Thanks for sharing this Dana. Sometimes people just say the stupidest things without knowing what they’re saying… thanks for helping those of us who don’t totally understand what you experience as a Mama to Klaw, what is and ISN’T helpful. I’m keeping this tucked away so that I won’t inadvertentaly hurt someone when I’m trying to be helpful.

    I’m thankful that Klaw is doing well right now and that you’ve been able to manage the disorder so well. Thank you for sharing your experience with us and helping us all to be more aware of this set of disorders that are so rare. You are a fabulous Mama!
    Sarah talked about…Sunday Funday #2 at The Fence

  2. Thank you for this information and personal story. I have recently been dx’d with this and w/o insurance or much of an income I do not have a nutritionist or doctor to follow up with. I have had similar situations in the ER when the doctor many not know about mito or VLCADD yet feel they know more than you. Many times they do not even want to look at the medical records or printout stating the need for IV fluids. As an adult that has to go to the ER alone many times it is difficult to fight for treatment when in a crisis. Again thank you for informing others so they are aware! ~Mighty, Mighty, Mito Mom

  3. @Sarah – Aw! Thanks for heading over here & reading! I love hearing that he looks great EXCEPT when he’s sick lol.

    @Dyana – I can’t imagine getting this diagnosis as an adult! That’s part of the need to get this information out there because it’s NOT just a disorder that affects infants. It can crop up later in childhood or adulthood. Check out my VLCADD resource page for support groups & information that may help you as you travel down this road, especially without the “extra” resources of various specialists on hand. http://www.reallywhatwerewethinking.com/p/vlcadd.html
    Dana K talked about…Mitochondrial Disease Awareness Week: LCHAD