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, August 14, 2012

Adventures in Traveling

Traveling with a 3 ½ year old…ahh…the mystery, the wonder the…discovery!  The first plane ride that Christopher remembers was to visit his uncle in Colorado several months ago.  He bounced around the airport in amazement, and as the plane took off from the busy hub-bub of Atlanta he let us know, “It’s going to do it! It’s going to do it!”  Then when we got off the ground there was a huge handclap and shout for joy, “Hooray!” (I suppose I could have been a little embarrassed by the commotion, but who am I to squelcher a child’s joy?)  Our recent trip to Seattle, to visit friends and attend the National FOD conference in Portland, proved just as exciting.  To most of us connection
 
flights might seem like a drag (just something to elongate the process of getting to our final destination) but to Christopher these connection flights meant another adventure and more opportunity to see these massive creatures (the airplanes) take off.  He decided quickly after the flight to Chicago (which led to our connection in Seattle) that he wanted to be a pilot.  And so he carried his small airplane around and practiced “landing” his aircraft throughout the day! (with as much vigor and determination as an actual pilot, I would add)  So you can only imagine the amazement and excitement when a wonderful pilot let Christopher sit in the cockpit after our second flight!

The journey of traveling with a child who has LCHADD has a lot of similarities to anyone who decides to travel with children. There are the similarities like the story above, but also there are the missed naps, tantrums, songs sung to pass the time, beauty of new places, the joy of raw education, and the smell of hotel rooms.  Amidst all the similarities, differences exist as well…and these differences can lead to adventures in and of themselves!

Lets start with exhibit A (the picture to the right of the screen).  Now if you are an FOD/LCHAD parent reading this, the sight of the suitcase on the side of the screen probably brings a chuckle or a knowing smile…but if you are with the security at the airport the look on your face might be quite different.  The largest responsibility I have found in packing for our trips with Christopher is making sure that we have all of his medical formula, medical supplies (glucose monitor ect.) and his precious MCT oil.  I have to make sure that we not only have enough for the trip but enough in case we get caught somewhere because of bad whether, car breaks down or he has a crisis and has to stay in the hospital.  Then there are those every day experiences you have to prepare for…like spilt milk (i.e. medical formula)…literally!  So every trip we go on I count the cans and do the math at least 3 or 4 times to make sure that we have enough.  Then there is the MCT oil, this precious oil that gives him vital energy throughout the day.  Have I wrapped it enough with towels, so it won’t break?  Is it easily accessible?  If we are visiting larger cities there is the comfort that we might be able to find it in a natural health food store, but in the small towns finding this important medicine would be more than challenging.  Carrying this load of formula with us in our car is one adventure, but carrying it on the plane is another.  We have been really lucky going through TSA so far.  We carry a special letter from Emory so we can carry all of Christopher’s medical supplies, including his oil and formula, in a carry-on bag (you can’t risk putting it on checked baggage).  They scan and test everything for explosives, then let us through.  I am so glad that Southwest Airlines does not charge for your first two bags…because it would be nearly impossible not to check bags when you have to carry this much medical formula with you!

Now lets talk food.  By plane we carry a mini-cooler with a large assortment of snacks and meals, and by car we pack a very large cooler.  I must admit meal planning was something that I had to get used to when going on trips.  Before Christopher was born when Ryan and I would go on vacation, meals were a lot more relaxed.  Sure we would take snacks with us on road trips andcook at our destination, but during vacation time we eat out a lot more and were concerned less about meal planning.  Now it is so different because we know that eating well is so much a part of keeping Christopher healthy, we can’t take the “break” that we used to on vacation in regards to eating strategically (and I suppose we eat better because of it).  Before a big trip we always talk with friends or family to make sure that we will have certain staples when we get there (i.e. yogurt, potatoes, salad, peas).  Then we have to sit down and discuss the meals for the week: What meals will be “Christopher-Friendly”?  What meals will not be?  I try to make muffins ahead of time to always have on tap and fresh fruit and veggies are an easy go-to.  It is wonderful when friends and family offer to make a “Christopher-Friendly” meal when we travel because it frees my brain up for one or to nights! 

I find the most challenging thing about traveling via car is making sure that we have enough food for Christopher for several days.  Occasionally we are lucky enough to find a place to stop and get sushi or I can peel part of a chicken breast away at Chick-fila and add our own sides, but we have to plan as if these options do not exist, just in case.  Christopher at this stage is really accepting of what he can and can’t eat while we are traveling.  He is way more concerned with having a chance to play and having a cup with a straw in it when we stop to eat, than whether he can actually eat something off the menu.

The last two things that linger on my mind that wise older FOD parents have warned me about:  “Always make sure that where ever you travel to has a kitchen.” and “Remember that excitement uses more energy/calories.”  We have been really lucky because so far all of our trips have provided easy access to a kitchen…but I know that as we plan out future family trips this is something that will remain on the fore-front of my mind.  The whole excitement piece…I feel so grateful for the warning!  So far Christopher has done really well on trips, not exhausting himself from excitement, but I feel like I have to give credit to the families that have gone before us and shared that excitement can lead to extra calorie use and thus lead to metabolic crisis.  This warning has made us super vigilant on trips to feed him often even though it seems as though he is sitting more and possibly not using quite as much energy.

On a completely different note, I did want to let everyone know that we met our fundraising goal of $10,000 and that the clinic was very excited and grateful!  I apologize for my delayed response in letting you know (as many of you know I have been having some of my own health challenges the last couple of months).  If you meant to give but didn’t get a chance you can still give using the link to the side of our blog or by mailing in a check to the address below.  Please e-mail me if you gave and didn’t receive a tax credit letter, or the letter was mis-printed in any way!

Thursday, May 10, 2012

Race Day!

Sunday morning anticipation was in the air as we woke up at 4:30am.  Ryan and I had set out all of our clothes and equipment the night before, so all we had to do was gather last minute items in the wee hours of the morning.  By 5:15am we were out the door, leaving Christopher with Ryan's parents, who would meet us at the beginning of our triathlon closer to our start time.

We arrived at Chastain Park around 6am to set up our "transition material" in the bike area.  It was amazing to watch all of the race participants setting up there things and learn their methodology and approach, so as to have a quick transition.  When the race started I was awed at all of the people in the pool doing laps.  In all my years of life guarding I had never seen such a spectacle!  For the most part it was pretty civil, but there were definitely feet kicking various people out there!  Ryan and I started about 20 people from each other, but Ryan quickly caught up to me on the bike and we did the bike and run together!  Overall, we did very well.  We finished our 400 yrd swim, 15 mile bike and 3mile run in exactly two hours!  The most challenging segment for both of us was the bike, as the hills were monstrous!  We knew that the hills would be challenging and so we trained a lot on hills, but the steepness and length of each one was crazy!  Ryan laughed at me trucking up one hill because I grunted so loud (I couldn't let it conquer me!) he could hear me twenty feet behind him.

It was so encouraging to have close friends along our transition sites cheering us on and Christopher yelling, "Go mommy and daddy!"  The best feeling came after the run.  My legs were completely numb at this point (numbness is better than pain I guess!)...and as we crossed the finish line...it just all felt worth it.  All the training, all the communication about LCHADD, all the fundraising...and then seeing Christopher and knowing that only good could come out of all of this...and knowing that he will be effected by the goodness.

Thank you to every friend, family member and acquaintance who has taken the time to lovingly read our blog, learn more about LCHADD and donate money to Christopher's metabolic clinic.  As of this Tuesday, with your help, we raised $9,760.  It takes about a week before money is processed, so we are expecting that money donated last week will be tallied up by next Tuesday.  I am excited because I am hopeful that we will have reached our goal!  If you haven't donated and meant to, or would like to, it is still not too late.  You can mail it to the address below or donate on-line at the link on the side. (I know there has been some confusion with the on-line link.  The appeal code for on-line giving is different than the one below but it still goes into the same account.  When you go to the on-line site the direction box will say, "School of medicine" and below it will say "Nutrition Research"...this is all correct!  Sorry about the confusion!  But thanks for everyone's diligence in wanting to make sure your donations go to the correct place!) 
 

And hey, even though the race is over, the fight to help children with metabolic disorders and raising awareness about LCHADD will continue!  So please check in and continue to read our blog and pass it along to friends!  Knowledge of FODs, their struggle and process will only better their care!  I have several more post ideas brewing...that will include cute pictures of Christopher (in case you need something to lure you in....lol)... I will be posting soon!  Much love!  ~Steph, Ryan and Christopher


Wednesday, April 18, 2012

What I hope for Christopher...

When Christopher was first diagnosed with LCHADD I was still quite sick. Those first three months of his life there was not much room in my daily existence to have any emotions about his disorder. Rather, my focus and concentration centered around my physical healing so I could help Ryan care for our son. I recall the first night I was well enough to feel anything about Christopher having LCHADD; it hit me hard all at once. He was a little over three months old and we were listening to Andrea Bocelli (a beautiful blind opera singer) and I started to ball. I was angry...angry that he had a metabolic disorder and angry that there was so little known about long-term care/ life expectancy. I was sad that my innocent son had no choice in the matter...that he would have to be a fighter at such a young age...that there was a high propensity that he would lose his sight. Then there was the guilt. LCHAD Deficiency isn't random...(gulp) a part of me gave this to my son (sob). And so started my grief process, and acceptance of having a child with a chronic health condition. I knew, deeply, that we would be fighting this battle together...all three of us...Ryan, Christopher and I.

As Christopher grows, I find myself thankful (as I pull my hair out) when Christopher experiences those challenges that any two or three year old experiences. I find that it is this odd balance of trying to be in the moment with him as much as possible, educate myself about his condition and studies, and process the unknown that accompanies his condition. I find that I carry so many emotions with me, and although I can force some into dormancy for awhile... illness, muscle breakdown and doctor visits can bring these emotions back to the surface. I realize that for all kids there is a certain level of unknown and that life is fragile for everyone to a certain degree. Yet, I think this reality is a little easier to push out of our minds, when a child doesn't have a chronic condition. It is the reality of our own mortality that sits too close to home these days...and yet we can't give up hope...we won't!

I think about these things while I am training or while Christopher and I are out hiking. And at the end of these thoughts I always come back to, "What do you hope for, for Christopher?" And I suppose there are a lot of things I hope for that any parent would hope for, for their kid...but somehow it feels a little different. I hope that Christopher will not lose his laugh and excitement for life. I hope that he will see the world differently and challenge people's ideals or notions of how things are "suppose" to work. I hope that he will love who God has created him to be and that he will embrace the beauty of all that surrounds him. I hope that he will continue his excitement to expand his mind, and explore his environment. I want him to be comfortable in his own skin. I want him to love nature and creation. I want him to be able to do what excites him (I worry about this at times because he is so athletic...loves basketball already...I hope that he will have the stamina to play sports if he wants to...the LCHADD could effect this.). I hope that he will embrace his LCHADD, his special diet, and seek to be an advocate and example to his peers. I hope that more doctors will desire to work in the field of metabolic conditions and that my son will have continued health care as he grows.

People have asked me if I think that LCHADD will be cured. I suppose that I am not really sure how the science around that would work, because LCHADD is a genetic condition that occurs on a cellular level throughout the body. I know that research is the beginning and that there is so much hope for children with LCHADD, that they can have full lives, the more that scientists learn about the mitochondria and how fatty oxidation works. I hope that research will change the progression of the vision loss that these kids experience. I hope these kid's diet will be so effective that they will be able to participate in life in a way that they choose. I hope that doctors and clinicians who have never heard about LCHADD will hear about it, and so when a child is sick and in the hospital, treatment will be easier for families, patients, and clinicians.

And so I suppose we hold a lot of hope in our family. Our hope comes from each other, God and friends like you who love and support our journey. And so we hope on...

Tuesday, April 17, 2012

How do you train with a three year old?

Well, I must admit training with an active three year old little boy is quite the adventure! It has forced us to get creative with our training! We try to work out about five days a week. Sometimes this is done together, and sometimes we have to sneak it in around each other's schedules. As you know, Christopher got quite sick in the beginning part of our training and so this added an extra obstacle. Ryan and I tried to take turns going on runs while he was sick and recovering. Then as Christopher started getting better Ry would push Christopher in the jogging stroller while we all ran together as a family.

Although Christopher doesn't mind the jogging stroller for short distances, he got really excited when we go a bike trailer off of Craig's list! This has helped us tremendously! The middle of February was when we first started using it, and it couldn't have been better for a child who was recovering from metabolic crisis. Christopher was strapped down (so he had to take a load off and not use energy) and we were able to get him some fresh air without exposing him to other children who might have been sick. Christopher loves the trailer, the wind in his face...and books that he brings along for the ride. He can last about eight miles before he is done and ready to get out and play or ride his own bike. After every bike ride Christopher pops out of the trailer and heads straight for his tricycle. "My turn!" he seems to be saying.

Other than family bike and run times, Ry and I go to the YWCA and they have childcare so we can swim, weight lift, and/or run. Oh, and there is our wonderful friend Catherine who has come over two Saturdays so Ryan and I can do a long bike and a run. (Our last long bike and run was two weeks ago. We biked 16 miles and ran 3miles...and I didn't even sprain my ankle this time!)

Christopher is starting to understand more now why we are training. Yesterday, he looked up at me as we were getting out of the car and said, "You have to run to help Dr. Singh...she helps me?!" And Christopher, I think, considers himself training as well. This past weekend he ran up and down our hallway several times then looked at me and said, "I ran four miles mommy!" But my favorite moments are when we all sit on the floor together and stretch. Christopher is by far the most flexible!On a fund raising note, we are up to $8,000! Thanks so much for everyone's support! It has truly encouraged Ryan and I to see how many people have given joyfully from their heart! We will be thinking of you all come race day, and know that you are making a difference by supporting research of FOD's. (Maybe I sound a little cheesy...but know that I am sincere.) If you would like to support FOD research and have any questions please do not hesitate to contact me! Or if you just have any question about Fatty Oxidation Disorders contact me as well!

Wednesday, March 21, 2012

"Why can't I eat that?!"

So far this is not a question that has come up too often. As Christopher grows and he is exposed to more children, parties, and events where there are lots of food that he cannot eat...we are preparing ourselves for this question. Right now Christopher more often asks, "Is that Christopher-Friendly?" And seems satisfied with the answer, "No...because it has too much fat." I think it has also been really helpful for him to see that different kids and adults are at times limited in what they can eat. His cousin and another close friend are both severely allergic to peanuts...and mommy can't eat strawberries...and someone else can't have gluten. The other day we were eating a cracker and he asked me, "Mommy is this Kristina-friendly?" To which I said, "No sweetie." "But why?" "Her body does not like gluten very much." In that moment, I found myself grateful that all of our bodies are a little different...so he doesn't have to feel like his is s-o-o different.

Although it would be nice if these small conversations would be enough, I realize it will not always be this easy. And truthfully there is definitely part of me that has had to grieve the foods I wish he could just try (flavorful cheeses...rich chocolate brownies...or just plan old chocolate!) or the fact that he will never be able to go into a restaurant and get just "whatever" he wants off the menu. I worry about how we will encourage him through peer pressure and help him process some of his differences, and yet I know we will face these challenges head on as they come. Currently, two main tips have challenged me as a parent.

First Tip: "Don't feel sorry for him." I can feel sad that he can not try some yummy brownies, but the fact of the matter is, there are a lot of other yummy foods he can have! A dear friend reminded me that I need to sort through my own grief about his food so he can better develop his own perspective. She said, "Honestly, he may not be the type to care. And if he isn't and you teach him to feel 'sad' about his condition or his 'limitations' you will make it harder on him. Let him be sad or frustrated if at some point he feels that way...but be okay if this is not the emotion that he puts with diet." And so I find that I try to be careful when we mention that he cannot have certain foods. I try to make sure my tone is nonchalant instead of pity-filled. I think it also helps that we try to keep mainly Christopher-Friendly foods around the house so there are not lots of food in his daily reach that he can't have...home becomes a safe food place for him.

Second Tip: "When he gets to school try to make his lunches look like the other kid's lunches as much as possible...even if they are not." It hadn't crossed my mind, but makes so much sense. I mean there will be some things we just can't adapt. Then there will be the apple, raisins, box drink , pretzels that are in many children's lunches. Do you know how excited I was when I found fat free cheese and a special peanut butter called PB2? Yes, I realize that grilled cheese sandwiches, pizza and peanut butter and jelly are not the most nutritious choices...but to know that we can make an equivalent made me so excited and hopeful for some of his future social interactions around food. (PB2 has been wonderful! Who knew that they made powdered peanut butter where they extract the fat out...so it has only a tiny amount of fat in it! And the company has been amazing in trying to understand Christopher's disorder too!) I just feel like as he grows he will have to spend quite a bit of time explaining his diet and disorder. I hope that days with his special PB2 sandwhich, fruit and yogurt will not have to be one of those days!
"Why can't I eat that?!" And so we move forward and answer his question by looking on the back of packages when they are available. We show him the number next to the word fat and explain that there are too many of those fat "catipillars" running around in this particular food item. He responds, "Oh..." and takes a nice big bite out of the juicy strawberry he has in his hand.

Did you know fat chains have different sizes? Who knew?!


There were a lot of things I didn't know or understand about the body before I had a child with LCHADD. In college I took environmental science classes and so even basic anatomy was a little out of my league when I first started trying to understand what was really going on inside of Christopher's body. One of the many fascinating things that I learned was that fat exists in various sizes. Then when you consume fat your body begins to break it down into smaller and smaller forms of fat, to use for energy. I quickly learned that there are very long chain fats, long chain fats, medium chain fats and small chain fats. The length depends on the number of carbons that are connected together. And how your body processes these fat chains depends on the length.

As I was studying about fat and fat metabolism, I began contemplating how I would explain this all to Christopher. All of the drawings that I saw of fat molecules looked way too complicated ...and so the more I read about fat, the more I began visualizing them as caterpillars. The above picture is an excerpt from the children's book I wrote about LCHAD, VLCAD and TFP. I wanted to share it with you so you could visualize more clearly that fats have different sizes.Most of the foods we eat are primarily comprised of long-chain fats (the ones that Christopher has a hard time breaking down) but there are short and medium thrown into some of your fruits and vegetables too! Coconut is a little different. Over 90% of coconut's fat is medium chain. This is actually what Christopher's special MCT oil comes from! Although MCT oil has a low smoking point so we don't sautee with it; we can sprinkle it over food, make special butter with it (we made sugar cookies with this butter last Christmas!), and even make a "Christopher-Friendly Pesto" for pasta. This oil is really a life source for Christopher because it gives him a longer form of energy than just glucose and protein to use. We give him this oil and his special medical formula throughout the day to try to give him constant energy. If we know he is going to the playground we give him the oil in food right before we go and follow up with coconut water or Gatorade (which is another great energy source for LCHADDers)

Race and Fundraising Update!

Okay, so pictures from last Easter were probably not what you expected to see under this title. But lets be honest, is there anything more glorious than a child running after Easter Eggs (especially when he is still at the age that it is more about the hunt of the egg rather than what is inside...)! And while we are being honest, looking back on pictures like these remind me not only how lucky we have been with Christopher's health...but encourages me to continue training for our Sprint Triathlon, even when it is difficult.

Difficult? Yes! I am not going to pretend that I have gained some super athletic power sense being in the hospital. Even Ryan is feeling quite challenged by the swim! But we are training hard. We take Christopher on bike rides with us once or twice a week. And he can still squeeze into the jogging stroller so we try to do a couple mile jog together once a week. Then we go to our local "Y" for lifting , running and swimming. Two weekends ago we did our first 16 mile bike ride without Christopher and tried a two mile run afterward. The bike ride went great. Ryan felt great...I was a little exhausted. Then we started our run. 5oo yards into our run I tripped and fell. I remember (as I was flying through the air-literally) that I needed to land in such a way that I didn't hurt myself too bad...as I came down on my hands and knees I mostly succeeded. My knees were busted open, and my hands scratched up...but no broken bones, chipped teeth...I did great! Well, that was until fall number two. (Can you believe I fell twice during one run!) So maybe it was the uneven sidewalk...or maybe it was just being tired...but that second fall I sprained my ankle...which left me healing for about a week before I tried to run again. I knew that training would be painful, but honestly I haven't scrapped my knees since high school and those boo-boos hurt when you are old! Who knew!

This week we are training strong...and hope to do another 16mile bike and complete a two mile run (and maybe our swim) in a couple weeks. We will see! In the meantime pray that I keep my balance and lift my feet off the ground when I run...lol!

On a fund raising note so far we have raised $1, 475 for the clinic. Emory keeps track of donations that are coming in with the various codes that are posted on them. We are so appreciative for all that you have contributed so far! As we see support come in, we are reminded of the vast community that is around us! It is our hope that we can raise $10,000 for the clinic, so if you have not donated yet, please consider this possibility! I keep thinking if we can just find 400 people to donate $25 we will meet our goal!

Thanks for all your love, letters, thoughts and prayers!

Wednesday, February 29, 2012

What is a child’s prognosis with LCHADD?



It’s a hard but important question! LCHADD, along with several other metabolic disorders were added to the newborn screening almost five years ago in GA. (Many of you might know this test as the “heel prick.”) This test is not only saving children's lives (it is thought that many children with LCHADD died of SIDs before the test was routine), it is also helping to better the health of children with these disorders. We were very lucky that Christopher was picked up on the new-born screening with LCHADD. He has been on his special diet since birth, and has not had a metabolic crisis until recently! Doctors are hopeful for children with LCHADD if they are able to stay on their specialized diet and are able to forgo metabolic crisis as often as possible. But, the fact still remains that there is a lot they don’t know or understand. Children with LCHADD have a high propensity of pigmentary retinopathy, which leads to blindness and they are unsure why. There is also still a lot unknown about the mitochondria and how it works (which is where Christopher’s deficiency occurs). Lastly, because FODs are rare inherited diseases many clinicians have not heard of LCHADD or have not had a patient with it. This can make LCHADD hard to treat when children are in metabolic crisis. We hope so much for Christopher, but there is a lot clinicians would like to learn in order to give him the best possibility to live a strong healthy life.

Christopher's First Hospitalization


On the evening of January 15th Christopher appeared to have a cold…by January 17th he wasn’t eating well and was unable to keep all of his medical formula down because his cough was triggering his gag reflex…so we headed to the emergency room. At the time of his admittance his CKs (or level of muscle breakdown) were 11,000 (normal range is 120-220). During his hospital stay his CK levels peaked at 70,000. There are several things that doctors worry about when children or adults have high CKs but the main concern is kidney failure. High “CKs” or creatine kinase in your blood means that you are having muscle breakdown. This can happen for various reasons, but for children with LCHAD elevated CKs typically occur when they have utilized all of their energy stored in the form of sugar. Their body turns to fat as an energy source but can’t break it down so it starts to breakdown the muscle instead. CKs are the by-product of muscle in the blood stream that doctors can measure. Myoglobin is another by-product whose levels coincide with the amount of CK in the bloodstream. It is the myoglobin that is hard on the kidneys and can create kidney failure and put a patient on dialysis. The large reason we have to take Christopher into the hospital when his body starts breaking down muscle is to get more glucose in his system so his body stops trying to use fat as an energy source and to keep him very hydrated, so as to protect his kidneys from renal failure.


It probably seems quite simple to say that having Christopher in the hospital was hard, but for all that we experienced it seems that this might be the best adjective after all. I must first say that we are really blessed to have such a wonderful metabolic team who worked extra hard at coordinating care with the pediatric docs in the hospital. Christopher’s clinic and head dietician stayed in touch with me throughout the whole process; updating me and answering questions along the way. Also we had amazing family and friends who called, talked, sent food and prayed. But having a child with a rare inherited disease like LCHAD means that the clinicians who worked so closely with him at the hospital had most likely not worked with a child with his condition. It meant that we as parents needed to encourage communication with his metabolic clinic and educate staff as much as possible. As with any communication among groups sometimes we did better than others. I found myself, worried, stressed, tired…and probably a little on edge with the docs at times. Then as he started mending in the hospital, there came the challenge of trying to find foods low enough in fat to feed him.


He was in the hospital for almost a week, when he was discharged. His doc was so nice to talk with him and give him a stethoscope so he could check his stuffed animal’s vitals at home. When we left the hospital his CKs were still not normal, and we were told that he was to do very low-key activities and not be around other kids for two weeks. Two weeks turned into almost a month, as his CK levels took three and half weeks after his hospitalization to get back down to normal. During that time we did a lot of drawing, painting, playing with animals, game…movies…but I must admit by week three we both were beyond stir crazy! Christopher has maintained a positive attitude through it all…and even when he had to go back for several blood draws after his hospitalization, although he didn’t great the blood draws with a smile, he was able to find one for his Dieticians and phlebotomist!

About a month and a half after his hospitalization


Christopher still mentions “Mr. Tubby” (his NG tube that he had to have put in while at the hospital) and checks Ni-Ni’s (his favorite stuffed animal) vitals and blood work quite regularly. He seems to be gradually processing the experience, but nighttime is still hard for him.

Tuesday, February 21, 2012

Five grams of fat a day! What does he eat?!


For kids like Christopher food is their medicine. We learned this early on! Emory’s metabolic team spent hours explaining to us what they knew about LCHADD and how to do everything in our power to prevent a “metabolic crisis.” The key they told us was to make sure that his body had enough glucose that it did not need fat as an energy source, because oxidation of fat would lead to muscle breakdown. To ensure that he had a steady amount of glucose in his system, we fed him every three hours, around the clock as an infant. As he got older we were able to go a little longer during the evening hours while he is sleeping. Currently, at age three and a half, he eats about every 2 ½ hours during the day (or more often if we are doing an activity that requires a lot of energy like hiking or playing on the playground). He also awakes in the middle of the night (most nights) to grab a sip of his medical formula and something starchy to keep his sugar up while he sleeps.


So what does he eat all throughout the day? Well, a lot of fresh fruits, vegetables, beans, and rice. He can eat almost any vegetable but the key is how it is prepared. You cannot sauté his foods in olive oil or add just any kind of dressing to his salad. There is no butter on his potatoes. (Did you know sweet potatoes are actually really delicious without the butter? Who knew? Ry and I find them marvelous and it is Christopher’s favorite food!) We have to be intentional about what kinds of crackers and breads that he eats, as these can be loaded in fat. Beans are great, but again, how were they cooked? And certain beans have more fat in them than others. (Did you know that 1oz. of chick peas has the same amount of fat as 1oz of chicken breast?) What is his favorite food besides potatoes, broccoli and pasta? Sushi! The main challenge is monitoring his intake of foods and making sure that he doesn’t have too much of the little amounts of fat…and they add up quicker than you could possibly imagine. We have also learned several ways to cook oatmeal and a yummy recipe for Tapioca, as he needs to have these starchy meals right before bed so he can go several more hours without food. Complex carbs store glycogen in his liver and gives him a steady energy source through the night!


He still drinks his medical formula, Lipistart every day. We call it his “Power Moo!” The other addition to his diet that is so important is cornstarch added to Gatorade or coconut water before strenuous activity…and of course MCT oil throughout the day. MCT oil is comprised of medium chain fats extracted from coconut oil. He can use this fat for energy, so it is an important part of his diet. We mix it into his foods and his drinks. One of his first phrases (outside of “Michael Jordan shoot ba-ball game.”) was, “MCT oil make body feel g-o-o-d!”

What does daily life look like?


In a lot of ways, from the outside looking in, our daily life with Christopher looks very similar to other families who have a three-year-old child. Christopher loves playing basketball, making art projects, reading books and is just curious about life. He also loves to test boundaries and must endure the occasional “time-out”. Christopher is a bundle of energy and we are always so excited to watch what he will do or say. (You know kids are the funniest creatures around!) Recently, when asked if he was excited about going to pre-school next year he responded, “Will there be girls there?” When I smiled and said, “Yes.” He continued, “Will they tickle me?” It took all I had not to burst out laughing! Then there was the trip to the grocery store where he just looked up at me and said, “I love my mommy!” How could your heart not melt! We are very thankful for all that feels “normal” and we are so grateful to our metabolic team, who has worked so diligently with us to make sure that he is as healthy as possible.


The challenging things for us are the unseen things. There is the constant counting of fat. Fat is in everything, even fruits and vegetables. He can only have 5 grms of fat a day right now, so you can imagine how quickly that adds up quick! Then there is monitoring to make sure that he eats enough to sustain his daily adventures. Typically this means he eats about every two hours or more. Lastly, we try to monitor, as best we can, his exposure to illness. The reason for this is that if he catches a cold or a stomach bug where he cannot keep food down, his body will start to metabolize muscle and he will have to be hospitalized.


But honestly, to look at him all you can see is the amazing kid he is and precious young man he is becoming.

Saturday, February 18, 2012

Our Story

Christopher was born on August 11, 2008 through emergency c-section. Many of you who are reading this blog are probably very aware of how scary that first month was for our family and friends. Although Ryan and I had prepared to have a natural childbirth by attending Bradley Method Classes, when I arrived at the hospital late in the evening on August 10th my liver and kidneys were failing. The doctors had hoped that delivering Christopher would help my body heal and get better. What nobody expected is that I would spend the next two weeks in the ICU on life support with kidney failure, liver failure and fighting for my life. Family and friends gathered around us with love, support and prayer. There was a huge question in the midst of all of this, ones that the doctors and nurses asked too, “Why?” I had been so healthy my entire pregnancy, it didn’t seem to make any sense. Then Christopher’s newborn screening came back positive for LCHADD and a lot more started to make sense. A high percentage of moms who give birth to children with LCHADD go into HELLP Syndrome. It is unclear why, but one theory is that my liver was trying to compensate for what his liver couldn’t do. This is just a theory, but this is how we have come to reconcile it all.


Christopher was the first baby to be diagnosed through the newborn screening in GA with LCHADD. This means that he was able to be on the proper treatment early on in his life. Before LCHADD was added to

the newborn screeninng, nearly five years ago, many children with this deficiency either died in their sleep or ended up in the hospital in severe crisis. Many of these same children struggled to grow and have energy to do daily activities. Christopher’s experience has been quite different because he has been on his medical formula, Lipistart, since his second week of life. He has grown and thrived into an active little boy these last three years! Christopher has remained in the 90th percentile for his height (he obviously takes after his dad) and his weight has remained around the 50th percentile. His energy level so far has been amazing as well! If you have ever gotten to meet Christopher, you will soon see that behind his sheepish smile is an excited little boy who loves life. Whether he shouts, “Hooray!” because he is excited to see you or starts singing a song that doesn’t quite make sense, his joy is contagious!