LCHAD "Attacks"

Information on when Adam's body is in distress due to LCHAD

When Adam has an LCHAD attack his metabolism is out of balance. His body is in need of energy sources to perform the voluntary and involuntary activities that keep his body functioning. Normally, short-term energy needs are taken care of by eating carbohydrates. When the body is in a state of continuous physical activity it will use these short- term energy sources (carbohydrates) first to give the body energy. After all the carbohydrates are used up, the body then moves on to fat, and will breakdown the fats in our body for energy. However, patients with LCHAD lack the enzyme used to break down fats. If LCHAD patient’s carbohydrates become depleted due to excessive activity or unusual stress on the body, the bodies first instinct will be to use fats to break them down energy, but since they are lacking the enzyme to convert the fats to energy, the body produces a toxic by product instead of energy. Next, the bodies will then move to the muscle, and break down muscle for sources of energy. The extreme case of this metabolic crisis is called Myoglobinurua. There are several reasons why Adam develops Myoglobinuria; a slight viral infection, bacterial infection, excessive exercise, long fasting periods, and dehydration. Unfortunately, Adam has suffered many of these attacks, which results in hospital stays for 2-6 days. During this time, he is given an IV solution of 10% dextrose at over 100 ml/hr to re-hydrate his system and protect his kidneys from the effects of Myoglobinurea. As a young child, Adam would complain of “hurty legs”, and this was an indication that he was on the verge of an attack. This is a severe aching in his legs that usually begins in his calves and works quickly up to his thighs and other parts of his body. The severity of the pain doesn't always lead to hospitalization. Once, we spent about one hour on a brisk sunny afternoon at the ocean soon proceeded by about a one-hour visit with a friend. After the visit we proceeded to go eat, and as we were sitting down to eat, Adam began complaining of leg pain. The pain moved to his arms, neck, and chest. He complained it hurt to breathe or talk. Even after having fluids at our dinner, we took him to the car where we continued to hydrate him with sugar fluids and water. He was able to overcome the incident without hospitalization!

We are quite frustrated by these sometimes seemingly random LCHAD attacks. Sometimes when we expect them, they don't occur, and other times out of the blue he gets sick. This is very difficult for us and even though we try to monitor his activities, sometimes all of our attentiveness fails. Over the years Adam has learned how to hydrate and fuel himself before strenuous or long events, in order to prevent these attacks. However, even now at the age of 25 he still has attacks our main concern is the long-term effects of frequent breakdown of muscle tissue in Adam's body.

Adam's 2016 Update

Adam's life at age 25

Adam graduated from the University of California at Santa Cruz with a BS in Bioengineering. He relaxed for about one year casually searching for a position in his field. Although there are many Biotech companies in the San Francisco Bay Area most jobs require at least a Masters or even a Doctorate degree to qualify. Adam did qualify for a position at a Biotech company where he worked for a while but it proved to be just making phone calls to clients. It was very unfulfilling and he left there after about 5 months. His present position is more in the field of Mechanical Engineering. He is a test driver of Google’s Driverless Car division. This is a interesting job not in his major, but he really likes the work and enjoys all the perks that Google offers.

Adam still loves to drive his car and participates in autocross and track days with his dad and brothers. Some Sundays he drives on windy challenging roads to a mountain restaurant for lunch. At home he is still an active video gamer. Whenever I see the games he’s playing I am amazed by how realistic the graphics are. He still sees some of his school friends on weekends to hang out.

Adam's 2014 Update

Adam's life at age 23

Adam finished his senior year at high school, graduated, and attended West Valley community College for 3 years before transferring to the University of California at Santa Cruz, where he is now a junior majoring in Bioengineering. It is a very difficult major and we are so proud of what he has achieved so far. Because of his health issues he will probably take 5 years to graduate.

Last year, his first at UCSC, he lived in the dorm. We thought this would be a big challenge for him to stay healthy and eat properly along with the demands of his major and dorm life. He did well having a great supportive roommate.

Unfortunately, Adam has had 3 hospitalizations since starting college. They were mostly due to letting himself get into a fasting state, not getting enough sleep, and drinking alcohol. Of course he knows that alcohol inhibits fat metabolism, therefore depleting his energy sources more quickly but at his age, reason isn’t always in the forefront of his thinking. He has though learned from the severity of the last two hospitalizations, in September and October of this year, that he really can’t drink anymore.

Usually one beer or a glass of wine will be ok but occasionally it will put him over the edge and he must be hospitalized. Fortunately UCSC is only about a 45-minute drive from our home.We have been able to go pick him up there and drive him back to San Jose and Kaiser Hospital, as there are no Kaisers in Santa Cruz.

Hospitalizations at his age are pretty scary. And as of January 2, he’s in the hospital again! He just doesn’t bounce back as quickly as he did when he was younger. During the first of the 3 recent hospitalizations it took days before his CK levels started to go down and the usual hospitalization time seems to be 5 or more days. Hospitalization #2 he was released too soon and had to return late evening of his release date. Besides his slow recovery time, we must still stay with him as much of the time as possible. We don’t sleep overnight in the room as we did when he was younger but need to be in his room to advocate for him and make sure he is receiving the right treatment. His metabolic doctor is WONDERFUL. We call him on his cell when Adam is going to the hospital and he calls the ER and gets things rolling, cluing in the ER doctors and alerting them about his symptoms and treatment. However, even with this any time of day or night direct communication with his doctor (usually via text) on site, still mistakes are made. Since the hospital staff hasn’t ever treated an LCHAD patient, they really have no clue as to his treatment. Usually D-10 is administered too slowly or at too slow a drip rate. Or in September by mistake they took him off his IV drip for 6 hours. My husband is usually the wonderful parent who stays with Adam and finds follows his treatment.

When Adam is in a severe LCHAD Episode now, he for the most part loses his ability to talk clearly. He thinks it’s might be weak larynx muscles due to his continuous vomiting. He can’t annunciate, and he becomes very difficult to understand. That’s why a parent advocate must be present as much time as possible. Adam's metabollic doctor is in another city 2+ hours away so he can’t visit and just keeps up with test results on line and talks to the on call doctor. Don is now 69 and I turned 67 this week. I don’t know how many more years we can stay with Adam in the hospital.

Adam’s eyes are worse. Every LCHAD episode affects them more. He still drives a car well, even at night. And he’s still in the monthly autocross (individual timed driving between cones in a parking lot) and occasional Track Days (driving around a professional race track with a group of similar cars at the fastest speed that is safe for each individual), but when he studies, he must have all the lights on at their brightest. A sad note he can’t see stars in the night sky. It just looks black. This is especially sad because his older brother is an Astronomer and now in the doctorate program at the University of Hawaii. One astronomer in the family, and one who can’t even see the stars!

We hope Adam will continue for the most part to do well. Now that his age is closer to 25 years when hopefully the adult brain is fully developed, he will continue to make more good decisions. He does take his 1T of MCT Oil and 1t Carnitine in a 6 oz glass of fat free milk at least 3 times a day. He also drinks Gatorade when he knows he will be stressed mentally or physically. He also eats an occasional NUGO protein bar (nugonutrition.com), which has 11 grams of protein.

Adam’s present hospitalization is the same ole, same ole. He had severe stomach pains that led to vomiting continuously, dehydration, and an inability to eat anything by mouth. He’s put on several pain meds once in the hospital for the pain. He had a CT Scan that didn’t show any abnormalities in his stomach. We’re beginning to wonder if he’s developed a food allergy. He will probably need further testing to see if this is the case.

Adam's 2008 Update

Adam's life at age 16

The big event for Adam, once he turned 16, was getting his Driver’s License. It gives him the independence to drive himself to and from his high school and to our swim club and other nearby places. It’s a huge relief for mom and dad, who don’t need to do as much chauffeuring!

Adam is now beginning his junior year at an all boys very competitive Jesuit high school. The first two years, for the most part, he thought his classes were easy. Adam is still on a summer cabana swim team that meets May through July. Like most teens in his age group of 15-18 year olds, he rarely goes to the 1 ½ hour 6:30am practice sessions. When he does, he has 1 tablespoon MCT Oil and 1 teaspoon of Carnitine mixed in 6 ounces of fat free milk before and after he swims. He doesn’t have the endurance to swim for more than 30 minutes of the practice. It is pretty embarrassing for him now because he’s the slowest on the team in his age group. But his friends are wonderful and never criticize him for being slow. He loves the socialization of just hanging out with the team.

For most of the year, Adam is pretty inactive. His nutritionist and metabolic doctors would like him to be more active, maybe riding a bicycle or going to the gym on a regular basis. This would strengthen his muscles and give him some reserve should he have an LCHAD Episode. Perhaps I need to explain an LCHAD Episode. This is when he starts feeling severe pain in his limbs, particularly in his legs. This is caused by a breakdown of his muscles as they try to provide his body with energy when his sources of the small amount of fat he can metabolize and carbs are depleted. Of course muscles don’t give him energy, so they break down (Rhabdomolsis). The broken down muscles leave the body through the urine (Myoglobinuria). When he was younger, Adam usually had to go to the hospital for an IV when this happened. Since the age of 13, he’s been able to overcome LCHAD Episodes with just drinking massive amounts of Gatorade.

Since he was initially diagnosed with LCHAD at 6 months of age, Adam is seen every 6 months at the regional metabolic clinic. There he meets with a psychologist, his nutritionist, his metabolic doctor, and others. He completes blood work and a diet record before going so that the staff can analyze his metabolic control. After the appointments, the metabolic staff meets in a group and discusses their patients, sharing information between them that will help others. Since Adam’s health plan has a lot of members, in Northern California, there are actually two other LCHAD kids seen at the same metabolic clinic.

Adam has been in two additional studies since I last updated. He was in a two-week diet study at Oregon Health and Science University in Portland, Oregon. There he stayed in the hospital for 2 weeks, having blood work done and stress tests while eating a high carb diet one week and a higher protein diet the next. There is a tendency in LCHAD deficient individuals to become obese, which can lead to Diabetes 2. Being overweight isn’t healthy for anyone but for the LCHAD person it is worse. With Diabetes they would have to limit carb intake (which turns to sugars). For LCHAD deficient patients, carbs are a MAJOR source of energy. If they got Diabetes 2, their main energy source would be compromised. LCHAD kids are always told to eat carbs for energy. Adam LOVES rice. Unfortunately too many carbs can easily make a person fat. He was very overweight at age 9 – 12 years, until puberty. He was always told he could NOT diet because it would be toxic to him to lessen calories. But at puberty he lost 17 pounds without dieting.

The study at OHSU determined that there is less of a tendency for LCHAD people to become obese if they decrease carbs for energy and increase protein (the low fat type). This summer Adam entered a follow up study related to the first. There are around 14 LCHAD participants who make an initial 4 day visit to OHSU for base line blood work, stress testing, and an MRS fat scan. They are then sent home and told either to continue on their usual high carb diet, or to be on a higher protein diet. After 4 months, they will return to OHSU for more blood work, stress testing, and an MRS fat scan to see the results. Ideally, the researchers want to find that those on the higher protein diet will have more energy and less fat. Adam is in the carb group so he is continuing his usual diet.

We have been very fortunate through the years to keep in touch with many LCHAD families around the world. We met families in Sweden and Germany in 2002. This summer we again met Jane Carroll, our initial LCHAD friend. She has always been in better metabolic control than most LCHAD individuals. At age 14 she ice skates competitively and has no retinal deterioration. Some of this may be attributed to her having a G tube until age 13 and having a very carefully monitored diet. We are now beginning to look for a university for Adam. I’ll try to update when he’s in college!