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.



Tuesday, September 23, 2014

Non- Fat Pumpkin Muffins


        We are getting close to that time of year again when pumpkins take over our world and our dishes!  Pumpkin is a beautiful thing!  I think many of us have some fond memory of pumpkin, perhaps related to Thanksgiving, but when you are trying to cook foods very low in fat pumpkin becomes a beautiful staple that adds moisture and flavor!
        A  couple quick tips that I have learned cooking low fat.  First, it is best, whenever you can, to use fresh herbs and spices.  This gives your dish a burst of flavor that you won't get from certain dried and pre-ground stuff.  In this particular recipe if you have a couple extra minutes and a mortar and pestle, grind your own dried cloves!  You will be amazed at the difference and burst of flavor.  Second, don't be afraid to reduce and layer sugar! By layering sugar I mean try to use sugar in the raw, brown sugar, white sugar and a dash of honey- or some combination.  Yes, it takes a couple extra minutes, BUT I think when you are working with less fat layering sugar adds complexity back to the taste of your dish! 

       Last comment:  I have the muffins listed as non-fat, but as you know from earlier posts fat is in everything and nothing can be completely fat free.  So based on labels and the website: nutritiondata.self.com I estimate that there is a total of 3.5 grams of fat in the entire recipe or less than .3 grams of fat a muffin.  (Can you believe that a cup of pumpkin has 1 gram of fat?  Who knew?)  Below is one of the first recipes I created for Christopher to enjoy...but I will be honest...I end up eating half the muffins myself!  Enjoy!
 
Non-Fat Pumpkin Muffins 

Ingredients:
·      2 c. flour (1 cup white; 1 cup whole wheat pastry flour)
·      1/2 c. sugar (1/4 cup sugar in the raw; 1/4 cup brown and white mixed)
·      3 tsp. baking powder
·      1 tsp. baking soda
·      1 tsp. salt
·      1 tsp. cinnamon
·      1/2 tsp. ground cloves
·      1 c. canned pumpkin
·      1/2 c. skim milk
·      2 egg whites
·      1/2 c. mashed bananas
·      1/2 c. raisins

Directions:
1.     Preheat oven to 350°F
2.    Sift dry ingredients into large bowl.
3.     In a medium bowl stir pumpkin, milk, egg whites and mashed bananas until well blended.
4.    Add wet ingredients all at once.  Stir slowly, until dry ingredients are dampened. Do not over stir.
5.    Stir raisins in with only a few strokes.
6.    Prepare muffin tin with cooking spray.  If using muffins cups, spray these with non-stick spray as well, as these muffins can stick to the cups.
7.    Fill cups 2/3 full. Bake 20-25 minutes. Makes 12-14

Saturday, September 13, 2014

Christopher Starts Kindergarten!


           
        Every day brings new challenges, and new beauties!  Many years ago a dear friend said, “You just have to be prepared for your experience to be different,” in regards to raising a child with LCHADD.  In this statement I have found wisdom.  Our stories are all different, this is true for the family with LCHADD and the family without, but perhaps I am forced to accept this understanding more often and in a unique way.  People asked me throughout the summer what my fall would look like with Christopher starting school, and I found myself often stumbling over words or just staring at them thoughtfully.  I didn’t know what to expect and I wanted to be open to each new day, embrace it for what it was and love it regardless.  I knew that Christopher’s kindergarten experience was going to look a little different than his friends, but what that entailed I could only speculate.
Christopher's first day of school!
            First, Christopher LOVES kindergarten!  In general he gets excited about anything new he is about to pursue, so it didn’t surprise us that he grinned ear to ear that first day of school.  He has loved learning about shapes, the classrooms rules, music, PE…and of course recess.  When I asked him the other day what his favorite thing about school was he said, “My friends!  I love playing with Ireon and Beck!”  I am so glad he is there and able to have consistent friendships, and learning how to communicate to others without me.
            Our journey into school has been filled with twists and turns that are quite different from the average student.  Many families enroll their child into school, buy school supplies, cry the first day and then drop them off at school.  Our experience started a week and a half before school when we learned that his number was called off the waiting list for West Side Charter School.  We were elated and a little nervous about how we would proceed with his 504 Plan so close to school starting.  The principal was amazing.  After we accepted the open spot at West Side Charter and shared about Christopher’s condition, he e-mailed us immediately.  The principal and the Dean of Curriculum organized a meeting for us to come and share with the staff about Christopher’s LCHADD.  We then met with the nurse, filled out paper work and had meetings with his two wonderful teachers, Ms. Rosella and Ms. Monica.  We worked together creating and implementing his 504 Plan.  I stayed in the classroom most of the first week, so we could all get a better handle on how to navigate his extra snacks throughout the day and monitor his activity.  Through this experience I have not only gained a better understanding of what his day looks like, but I've also been able to meet his dear classmates, who have captured my heart!
       
Christopher and Ms. Rosella, lead teacher!

    
After two days of school Christopher got a cold, so we (the teachers, nurse and I) worked closely to navigate his extra fluid intake. (When Christopher gets even a common cold we have to increase his fluid to 60-80oz a day to flush his kidneys, in case of muscle breakdown.)  We are still navigating how to handle half-days.  Our general rule of thumb is that when he is recovering from a cold, or his energy seems low we have him attend until 12:30 or 1pm.  Yet, even with this general rule deciding how often to use half-days is tricky.  Our reality is that he has already been sick three times this year and we are in the first month of school.  Also it’s hard to navigate what is the typical “kid tiredness” that comes with the transition to full-day school and what is LCHADD.  I am so grateful to have his wonderful teachers and administrators to discuss this with.  It is comforting to not have to make these calls on my own.
            Perhaps what hit me the hardest today is that all of the sudden we have a team of educators and extra people in our lives that really care about Christopher.  This is a wonderful thing!  Last year I made the hard decision to home school Christopher because he seemed to spend more days at home sick then participating in Pre-K.  We enjoyed each other and had a lot of fun, but there was a certain level of loneliness to our experience, even amidst all the events we participated in!  Toward the end of the year Christopher said, “I love you mommy, I just need to be around other people.”  I already knew we would try public school again the following year because I
Christopher and Ms. Monica, para-pro!
felt like I was drowning trying to lesson plan, be teacher, nurse, create play-dates, stay on top of medical appointments, fight with the insurance company…and then just be mommy. Christopher’s statement solidified it all and we have appreciated our new community this year.
            Christopher’s school year will be filled with adventure!  Christopher will attend school.  I will participate and help out in the classroom on occasion.   He will come home early at times when his is tired, have school at home with special projects when he is sick, and have Skype calls with his class if he is out for awhile due to illness.  He will carry a massive cooler every day with all of his snacks and milk, and communicate with the teachers about how his body feels.  He will make friends, laugh and cry with them, learn to read, learn to engage in meaningful conversation and learn how to wait his turn.  Our journey may have a few different mountains and turns, but it truly is delightful!



Thursday, June 26, 2014

Love, Obsession, or Passion?


     It all started last year around this time.  Christopher picked up a helmet, headed toward the tee, choked up on his bat and swung.  The seriousness that runs across Christopher’s face when he plays baseball started then and has carried over until this year.  He often doesn’t crack a smile until he has run across home plate.  Don’t let his tone fool you though, he is having fun the entire time…he is just focused…very focused!
            Last year’s t-ball experience sparked something in Christopher that I would have never imagined, a deep passion (and at times I think obsession) with baseball.  During his first t-ball year he wore his baseball uniform sometimes 4 days a week just because he liked to imagine himself on the field.  He wanted and still wants to practice every day.  If we can’t go outside, no problem!  Christopher grabs a tennis ball and becomes the announcer, batter, and fielder all at once…in our hallway!  It is the most hilarious thing to watch!   He calls “Freddie Freeman” up to bat, throws the ball (pretends it is a line drive) slides to catch it and then determines whether Freeman is out or safe.
            Christopher’s passion and intense practicing led him to play on two teams this year!  He started off playing t-ball with the 4-6 year olds, but it was clear to the 7-8 year old coach that he was ready to play with the bigger kids and be a bit challenged.  So the coach offered to let Christopher practice with the older kids, and then half way through the season invited Christopher to start playing games.  My husband and I were a little worried about 3 practices a week and two games on Saturday; is it too much?  But Christopher really wanted this…and we didn’t want to kill his passion for the game!
            Did I mention that Christopher has LCHADD?  Honestly, Christopher playing baseball, and this intensely, has been a surprise to us both!  When Christopher was first diagnosed with LCHADD we wondered about sports, and whether this would even be possible.  My husband and I are both athletic, but we had heard enough stories of kids with LCHADD struggling to keep up with sports that we really were not sure.  Then when we signed Christopher up for T-ball we thought, “This might be perfect.  He will get breaks during the dug out to fuel up and in the outfield he won’t be running all the time like he would in other sports.”  So far so good.  The first year of t-ball we had Christopher’s CKs checked after two practices and a game and everything was normal.  This year we have kept him fueled up and he has done really well!
            What does baseball look like for this kiddo?  A lot of “fueling up”!  Typically 30 mins before a practice or game Christopher eats a meal with a tsp of MCT oil over his food.  Then right before practice he drinks about 4-6oz of Lipistart mixed with 1 Tbs. cornstarch.  During the actual event he drinks a combination of Gatorade and coconut water every 15mins to assure hydration.  (Dehydration can send a child with LCHADD into rhabdomyolysis just as quickly as lack of food.) When he plays with the older boys I try to throw in an extra snack with MCT oil during game days.  Shortly after a game or practice we are now trying to add in more protein with Greek Yogurt to help the muscles re-build.  Outside of keeping him “fueled-up” there is a lot of cheering, encouraging and explaining the game!   He loves it!  Some of the kids ask a little about his extra snacks but he seems to take it in stride.
          Do I worry?  YES!  If he had a fuel light on his body like our car, that would be helpful!  It is hard to know if we are giving him enough, keeping him hydrated enough…and if we are monitoring him close enough without suffocating him.  Christopher is learning more and more to listen to what his body needs, which is great!  But he is still just a normal little boy who is focused on the game more than anything!  And this is how I want it to be…so all the worry and fear that I carry I try not to show to him.  I wish that I could just sit and watch the game and not be distracted by my worry, but I feel so grateful that he has this opportunity to play!  I am very aware that not all LCHADDers get this chance.  I don’t know why and it makes me very sad…but we are so happy and proud of our little guy!  He has got an amazing swing!


Wednesday, May 21, 2014

Pancake Day!!!!

Are you getting hungry yet?
 Twice a month Christopher and I do what we call, “Pancake Day.”  I can hear his screams of excitement even now as I write this post!  Since before Christopher turned two he has loved pancakes; by age four I could genuinely call it an obsession.  Pancakes were an easy thing to add to his diet when he was small because we could make them virtually fat free using tapioca and white flour.  This was a necessity when he could only consume 3 grams of fat a day!  Now that he can have between 8-9grams of fat a day, we are able to use more complex grains (i.e. whole wheat flour, brown rice flour, fava bean flour, coconut flour).
 Pancake day started as a way for me to encourage Christopher’s excitement around cooking and a way to save time.   Basically we use a large flat electric griddle, make a big batch of pancakes, and then consume half of the batch of pancakes the first week and freeze the rest for the following week.  Like any routine this has metamorphosed, and I hope that we are able to continue this tradition for another couple years.  Not only do we make large amounts of pancakes now, I have been able to throw in math, writing…and even a little geography.
            Math:  When Christopher was really small I had him simply count the pancakes with me.  Then we started doing simple addition by adding the pancakes on the plate with the pancakes on the griddle.  Recently, after he learned how to read “total fat” on labels he started to tally fat grams from the blueberries and various grains that we use to cook with.  Pancakes are also a great way to introduce measuring and sifting because, lets be honest, pancakes are one of the most forgiving recipes.  Nothing has to be perfect and they still turn out yummy!!!!
            Geography:  Christopher went through a phase where he was really into maps and states.  One day he asked me to make “states” pancakes.  He would chose a state from his United States Map and either say it or ask me what it was.  Then I would do my best to make a blob that mimicked the state…and he would use his vivid imagination and say, “Great job mommy that looks just like Florida!”
            We always finish our pancake adventure with a movie or a Scooby doo episode!  Perhaps these days he is enjoying the grand finale of television the most, but I still enjoy the process and enjoy all the things he gets to learn along the way.
            I am including two pancake recipes that we use off and on.  One made with wheat flour and one that is gluten free (He has a good friend who can’t have gluten so this has been great for the both of them!)  Honestly we love getting creative with the flours and often do some kind of combination…and include coconut flour too for fun (DON’T USE COCONUT FLOUR IF YOUR CHILD HAS MCAD!).   We have tried fava bean flour and garbanzo bean flour to increase the protein, but beware that these have a little more fat and taste a little more harsh. 
            Enjoy the pancake recipes below!  And don’t forget to make something silly with your pancakes!  That’s for your sake as much as your kiddo!  We gotta keep smiling!

Extra- Protein Yum-Yum Pancakes

Ingredients:
·      1/2 cup 1% fat whipped cottage cheese (adds 1grm fat)
·      1 large banana
·      1/2 cup blueberries or diced strawberries
·      1/4 cup non-fat milk
·      2 egg whites
·      1/2 cup whole wheat flour
·      1/4 cup whole wheat pastry flour
·      1/2 cup white flour
·      1 tbl baking powder
·      1/2 cup- 3/4 cup non-fat milk depending on desired consistency

Directions:
1.     In small food processor or blender blend cottage cheese, banana, 1/4 cup non-fat milk and two egg whites.  (If a processor or blender is unavailable, mash the banana and then whisk these ingredients together.)
2.    Sift flour and baking powder in a large bowl or Pyrex cup.
3.    Add liquid from the food processor and stir.
4.    Gradually add the second amount of milk (1/2-3/4 cup) until batter is desired consistency for pancakes.
5.    Add blueberries or strawberries if desired and stir gently
6.    Pour pancakes onto non-stick pan with or without non-stick spray.
7.    Flip and Viola!

Tips:
* My brother got me an electric griddle for Christmas one year!  It is more than worth the investment!  I never have to spray the griddle when making pancakes, flipping is so easy and the amount of time I save by cooking 6-8 pancakes at once is nice!  Especially since my little guy LOVES pancakes!

*You can substitute cottage cheese for non-fat greek yogurt and this will decrease fat of overall recipe.

makes 11 Large pancakes; Batch has approx 51grms protein and approx 3grms fat.  1 pancake has approx= 4.6 grms protein and .27grm fat


Gluten-Free Low-fat Pancakes

Ingredients
·      1/2 cup tapioca flour
·      1 cup rice flour
·      2 tsp baking powder
·      1 tsp baking soda
·      1/2 cup mashed banana (approx. 1 banana)
·      1/2 cup blueberries
·      1 cup non-fat milk
·      2 egg whites

Directions:
1.     In small food processor or blender blend banana.  Add 1/2 cup non-fat milk and two egg whites and blend until slightly frothy.  (If a processor or blender is unavailable, mash the banana and then whisk these ingredients together.)
2.    Sift tapioca flour, rice flour, baking powder and baking soda in a medium bowl or large Pyrex cup.
3.    Add liquid from the food processor and stir. (Do not over-stir!)
4.    Gradually add the rest of the milk until batter is desired consistency for pancakes. (You may not use all of the milk depending on your climate’s humidity so go slowly!)
5.    Add blueberries and stir gently with spoon
6.    Pour pancakes onto non-stick pan.
7.    Flip and Viola!


*The total recipe has approximately 4 grams of fat primarily coming from the brown rice flour.

Wednesday, January 29, 2014

Snow Day!


            Some of the fondest memories I have as a child are in the snow.  There is just something magical when everything around you turns white and the sun comes out and the brilliance of snow crystals are all around you…But lets be serious, as a kid the beauty of snow probably comes into third place after sledding/skiing and being off school!  Kids have to have their priorities right!  I know that snow activities can be dangerous, but as a kid and perhaps even as an adult many of the typical worries drift far from my mind.
Christopher's first snowman!  Age 4
            Last winter was Christopher’s first experience with sledding, and perhaps when I gave up attending to my blog.  Like any four year old he loved it!  It was close to New Year’s, we were in Pennsylvania visiting family, and the snow just poured from the sky.  His grandparents took him out in the morning for his first sledding expedition and Ryan and I were able to catch the end of it!  If you yourself are reminiscing about your own snow experiences, perhaps you remember how tired you were when you got back home. During activity, Ryan and I can’t help but obsess a little about Christopher’s calorie intake and this adventure was no different.  He “fueled” up before and after snow activity, took a nap and after nap time wanted to go out again.  We fueled him up again before making a snowman and sledding one more time.  Two excursions that day, one hour each, led to 5 days in the hospital with CKs reaching 70,000.
           For the next four months I searched for an answer to, “why?”  I knew that the basic explanation was that he used more calories than he consumed and therefore his body attempted to use fat for energy, leading to muscle breakdown. Yet in general, Christopher is an active child who will hike a 3 mile trail in the summer, loves to play baseball, and runs around every time we visit the playground.  We are always working to keep his calorie intake up, what made this event so different?
        I began searching medical journal articles trying to understand the effect that cold has on the metabolism and came across new research on “brown fat”.  I spent the next 5 months reading, talking, questioning and wondering if brown fat and its use of long chain fatty acids might play a role in all of this.  I spoke with some amazing people, researchers and clinicians in the process.  There are not definitive answers, but there are some things we know that are certain: Brown fat is activated when body temperature drops in order to help keep the body warm; More people than just infants access brown fat; When brown fat is activated it uses large amounts of glucose at one time.  All of these things, in addition to our experience, makes me feel that there is a strong probability that the cold is harder on our little guy’s body than the average kiddo.
Christopher had a marvelous sledding time today!
            Fast forward to today.  What do you do with a five year old little boy who is excited to go out in the snow and be a kid, when you don’t know for sure if you will repeat last year's experience?  (The truth is that although cold probably played a huge part in is hospitalization, there is no way to know if it was the only factor.)  Do you keep him inside and play it safe?  Do you take him outside with precautions?  We decided the later.  Plenty of “fuel”, extra MCT oil, more Lipistart, Gatorade, lollypops (for instant glucose), protein to rebuild muscles just in case…and monitor very closely.  I want Christopher to try and have these experiences.  It is a lot at times.  He gets frustrated with “breaks”, I look like a crazy parent forcing my kid to drink Gatorade every 15mins…and I worry.  I don’t want him back in the hospital and I know if we are not careful there is a possibility of this…a big possibility.   I struggle with the art of monitoring/worry and holding joy of the moment.  I am striving to worry less, monitor more…and just smile as he rides down the hill and gives me two thumbs up.  Laugh as he socks me in the face with more snow…and embracing him extra closely as we both have the excitement of experiencing the snow together.  I won’t lie, I wish at times I could just experience the moment without having all that other crap on my mind, but I am grateful for the moment.  And today he enjoyed the snow and is doing just fine.