On August 11, 2008 we gave birth to a beautiful baby boy, Christopher Harry! Christopher was one of the first babies in GA to be picked up on the newborn screening with a rare inherited Fatty Oxidation Disorder called LCHADD (Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency). As Ryan and I (Stephanie) gained more understanding about our son's condition and began to watch him grow and thrive, we had a desire to share our story and raise money for research. We hope that by sharing our story we can raise awareness/encourage education about LCHADD and provide hope to other families whose child(ren) have this condition.


This blog shares our journey, hopes, and fears. We also want this blog to contain practical information! Entries will include: yummy recipes, how we manage his LCHADD, conversations about medical issues, educational tools, and useful links on the side of the blog! If you are ever curious about something I have shared feel free to contact me personally!

What is an FOD?

WHAT IS AN FOD?


FOD stands for Fatty Oxidation Disorder. For children and adults with FODs their bodies have difficulty breaking down (or oxidizing) fat to use it for energy. This occurs when an enzyme is missing or not working properly. There are several different kinds of FODs. Some examples are SCAD, MCAD, VLCAD and LCHAD deficiency. Fatty Oxidation Disorders are genetic, which means both parents must have the recessive gene in order for their child to end up with the disorder. It also means that children with FODs will not grow out of their condition. Their condition is just as much a part of who they are as the color of their eyes or hair.

What is LCHADD?

WHAT IS LCHADD?


LCHADD stands for Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. Essentially children with this condition cannot utilize long-chain fats for energy. Did you know that the food that we eat has different size fat molecules in it? I never did until Christopher was born! There are short-chain fats, medium-chain fats, long-chain fats and very-long chain fats. I picture them as different size caterpillars (and this is how I explain it to Christopher) running around in our food. The short, medium, and very-long chain fats children with LCHAD can process. Unfortunately, most of our food and oils are primarily long-chain fats (the ones Christopher can’t process). If Christopher eats too much fat (right now he can only have 8-9grms of fat a day through food) then the fat will gather in his liver, kidneys and around his heart.


The other issue with Christopher not being able to breakdown long-chain fat is that it is a great energy source. For most of us, when we exercise or get sick and we burn through all of our glucose stores we start using fat for energy. Christopher’s body cannot do this, so his body starts to break down muscle and use it for energy instead. To say that this is “not good” is to speak lightly. When your body starts breaking down muscle you run the risk of having problems with lots of different systems in your body. Doctors worry the most about your kidneys because kidney failure can happen when your body is trying to process all of the broken down muscle (or myoglobin which is the by-product of the broken-down muscle).


In general, children with LCHADD are put on a very low-fat diet, drink a special medical formula, and most often use MCT oil (a unique oil comprised of medium chain fats) to give them a source of sustaining energy. Christopher's special medical formula, Lipistart, helps to ensure that he gets enough essential fat for brain and eye development without getting too much fat that his body can’t process. Lipistart also helps to provide a consistent form of energy for him throughout the day.



Thursday, September 24, 2015

Our First Backpacking Adventure

       By the time Christopher was two I was already posing the question to his metabolic specialists, "Do you think backpacking will be a safe activity to do with Christopher, or do you think it will be too much for him?"  They couldn't give me a clear answer then, but I felt the uncertainty.  As parents, Ryan and I have really enjoyed sharing with Christopher things that were meaningful to us growing up; anything from holidays, to sports, to classic movies (like "The Goonies").  The possibility that I might not be able to share with him the solitude and triumph that one feels during backpacking weighed heavy on my spirit, but like so many other things it was out of my control and only time would tell.
        Fast forward to last fall.  It was our second attempt at car camping.  "But mom, when can we camp at a site where no one else is around...in the middle of the woods?" asked Christopher.  Music
to my ears.  "Well, buddy...We have to be sure that you can hike without us having to carry you for at least four miles."  I didn't say this lightly.  By age six, we had taken Christopher on several hiking excursions, fueling up about every 20mins and stopping often to take breaks.  Yet, we still often ended up carrying him the last leg of our trips if we hiked longer than 3 miles, because he would complain of leg pain and we just weren't sure if it was related to LCHADD.  In my mind if Christopher could hike four miles without getting tired, then he could probably backpack 2 miles,  safely.  Little did I know that he would take this challenge so seriously.  The following day we headed for a loop hike that was a little over four miles, and with many stops and very little complaint he hiked the whole trail by himself.
        During that hike Ryan looked over at me and said, "You have to ask yourself, is it ever safe to push a kid's physical limits when they have LCHADD?"  I shared his fear and said, "I know, it is so hard because we won't know what Christopher's limits are until tomorrow...when he does or doesn't wake up with rhabdo!"  Let's be clear, I don't play the lottery, I don't gamble...I would lose every single time if I did!  So the notion that we just have to try things with Christopher and hope for the best, is scary and unnerving for me...but at this time there really is no better option.
       Last weekend was a monumental experience for our family.  Christopher and I sat down Friday night and packed his first 15 pound backpack, in preparation for a 1.5 mile backpacking trip on Saturday.  We headed up to Fort Mountain State Park in Georgia early Saturday morning, enjoyed a short hike without our big packs, and then by 2pm started our first family backpacking trip!
         Christopher loved it!  After about 15 minutes he said, "Whew this bag is heavy!"  But, he kept going sometimes leading the way, sometimes hanging in between Ryan and I.  We stopped three times to take off our packs and have a major fuel up/rest time.  He drank Gatorade with MCT oil, enjoyed fruit, and ate a granola bar at different rest points.  Other times he would just grab his Lipistart and drink while he was moving.  Our main objective was to keep Christopher fueled up and remain loud enough on the hike to scare off any bears, as there were multiple sightings in the last couple of days.  I think when you hike with a seven year old child though you have a natural noise maker, which makes for good bear deterrent!
       As always, food was a major part in navigating how to make this trip happen.  I weighed out his Lipistart powder ahead of time, put it into zip-lock bags with scoopers, then put it back in the original can, and bagged the whole can.  We couldn't afford for this to get wet for any reason!  I made special granola bars that are a little higher in protein, low in fat and fortified with MCT oil to eat throughout the hike.  We brought a lot of fresh veggies and canned beans to roast in our fire at camp.  I packed two small bottles of MCT oil in my pack and left an extra in the car, in case a bottle leaked on our trip and he needed more MCT oil right when we got back to the car.  We brought enough Gatorade for our first day of hiking, and Gatorade chews for the second day so we didn't have to worry about more powder.  We finished our packing trip Sunday with a tuna packet, mixed with mct oil and crackers.  I wanted to end our trip with a lot of protein, in case there was any muscle breakdown, this would help rebuild the muscle.
       I am not going to lie, I held my breath until Monday morning.  Did we push him to hard?  Did we try this to early?  Sunday night I snuck in two extra feeds during his 12 hour night sleep.  Monday at 5:30am, as I was packing his cooler for school I kept thinking, "This was an amazing weekend, we couldn't have had better weather, he thoroughly enjoyed the experience...and it is even more special because I never thought we would get to do this as a family...But was it too much?  Will we go to the hospital today?  Will it be our last hike?  Am I crazy (well the answer to that is yes!...)?"  But he woke up at 6:45am excited to go to school and share his experience!  After, I dropped him off at school I exhaled and smiled.  We did it, and hopefully this is just the beginning!
    So, what were Christopher's highlights of the trip?   Probably just what you are imagining...lounging in the tent, getting to use a flashlight, playing card games...AND pooping in the woods, of course!  Gotta love it!


    
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