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 15^th Christopher appeared to have a cold…by January 17^th 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.

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.

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 10^th 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 90^th percentile for his height (he obviously takes after his dad) and his weight has remained around the 50^th 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!