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!