Current Status

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. This wasn’t good because he just did a minimum of work to obtain a 3.4 GPA. He spent most of his time on Xbox 360 playing games with others around the world. In my day it was pen pals but now it’s on line gaming….
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. At least he doesn’t DQ (disqualify for doing a stroke incorrectly). He loves the socialization of just hanging out with the team. He has discovered girls and between events can usually be found  sitting on towels in some shady place surrounded by four or more girls.
Adam is the first to make “blind jokes” about himself. At his age he doesn’t talk to us about feelings so I don’t know if he’s really afraid he will go blind. In the past few years he has noticed more blank spots in his right eye. But he is able to turn his head to work around these and still see well. He even can see well at night. We took him to one meeting of the Foundation Fighting Blindness (a national, or maybe international organization that supports people of all ages with diseases of the retinas). The meeting he went to separated into groups – parents of teens, teens, etc. so he was able to be with a group of teens suffering RP just like himself (Retinitis Pigmentosa). Most of these FFB 16 and older teens have their driver’s licenses too but wonder if there will be a time when they will have to give up driving. I think it is a great support group but Adam doesn’t think he’s really ready to be in such a group yet. And, as I said before, he doesn’t talk about his feelings. This also applies to when he’s in a group.
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 in urine (Moglobinuria). 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 health 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 and as an individual, probably eats more of it than someone living in Asia. 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. This was probably not healthy for his body, but I don’t know how we could have stopped this from happening when he was eating the same amount of food.
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. Anyway, we met them in Colorado where she was competing in the State Games. She won 3rd place in her division. We’re so proud of her!
We are now beginning to look for a university for Adam. Because of the expense, we want him to go to the University of California. However, the best campus location (Berkeley) is SO competitive, we don’t think there is a possibility of him being accepted. That would be the best location because it is the closest (5 miles) from his metabolic nutritionist and the hospital. When you have a child with such a rare condition, I think it is best that he be near medical professionals who know him and understand his condition. Our second choice would be the University of California at Santa Cruz. This campus is about 45 miles (and a very windy road) away from the hospital. Public transportation there is poor and we would probably have to go get him if he needed care. What if we weren’t home?? It is a big worry. We may just have him go to junior college for two years first and live at home. Of course he wants to move away like his middle brother, but that may not be the best for him.
I’ll try to update when he’s in college – maybe the first LCHADer to go to college? Someone can contradict me on this if I’m wrong.
Adam’s Diet supplements at 16 years
Multi vitamin daily, Ester C, Vitamin E, DHA, and Occuvite
3 – 4 6-ounce jelly jars of fat free milk. Each contains 1 tablespoon of    MCT Oil and 1 teaspoon of Carnitine.
            Limit of about 20 grams of long chain fat per day
                        Supplement with 20 + ounces of Gatorade when needed

Sample of his daily (school day) diet
Breakfast:  his 6oz milk supplement
Snack: Plain bagel
Lunch: Bowl of rice with soy or teriyaki sauce and his milk supplement
Snack: Bowl of rice, bagel, cereal or some carb
Dinner:  Low fat meat, vegetables (he doesn’t like many)
Snack: Dryers low fat ice cream
Bed: Milk supplement
He rarely eats fruit and just a few vegetables. I hope the vitamin supplements provide him with the necessary vitamins.