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It is hard to believe I haven’t written about
Adam for almost 6 years! He will be 14 in December and will start
high school next fall. He is now a big 8th grader at is performing
arts middle school. He is a very good student getting all As (some
A+s) and Bs. He participates in Concert Choir, Men’s Choir,
and Chamber Choir. He is still on a summer swim team, and although
he's still rather slow, has mastered the four strokes. He also participates
in one or two musicals a year at Children’s Musical Theater
of San Jose.
Since I last wrote Adam has participated in several LCHAD studies
around the country. He is an excellent patient and doesn’t
mind doctor’s offices or hospitals. If he were skittish about
either, we wouldn’t have him participate in so many studies.
His participation has allowed him to travel around the country and
meet the medical professionals most knowledgeable about LCHAD. Some
of these studies are still accepting participants so please email
the doctors, their facilities, or myself if you or your LCHAD child
is interested. Some have proved extremely beneficial to LCHAD children
and some others with fat metabolism defects.
In 1997 Adam entered a 5-year study at the University of Wisconsin
run by Dr. Melanie Gillingham and Dr. Cary Harding, Madison (now
at Oregon Health Science University) taking DHA for his retinal
health. He would have a complete eye workup every year including
an ERG and VEP to observe changes in his retinas. Unfortunately,
there appeared to be a gradual increase of the abnormal pigmentation
in his retinas, which were first observed when he was 3 years old.
But his vision remained intact.
In 1998 Adam was at Presbyterian Hospital, Columbia University
in New York City having a PET Scan. Dr. Steven Bergmann is studying
how fat is metabolized in the heart of LCHAD patients. Dr. Bergmann
determined that fat was metabolized in Adam’s heart in the
way, which he expected. We had a wonderful week in New York City
pre 9/11 and visited with our son Dan who was working on the 52nd
floor of the World Trade Center. We all dined at Windows on the
World on the 107th floor.
And in 2001 Adam entered an 18-month study at Baylor‘s Institute
for Metabolic Diseases in Dallas to test C7 Oil, odd chain oil.
Dr. Charles Roe led this study predicting that odd medium chain
oil would be better utilized for energy in the body. Adam was assigned
massive amounts of this oil and every 6 months was tested for endurance
and muscle strength. Unfortunately, Adam wasn’t able to tolerate
a large enough amount of the oil to be beneficial. Several of the
participants, however, reported some extreme improvements in muscle
strength and endurance.
This past summer Adam was back at Oregon Health Science University
in a 2-week diet study run by Dr. Gillingham and Dr. Harding for
LCHAD children, which was to determine whether they would be more
energy efficient on a higher protein diet. The first week the patients
ate a regular high carbohydrate diet and the second week some of
the carbs were replaced with protein. Adam did better on the higher
carbohydrate diet and actually had a ‘hurty leg’ attack
the second week. It was determined for him he could do well on a
protein level about 10% less than the study.
Besides all of the studies in which Adam has participated, we have
had a wonderful trip to Europe in 2002 and a trip to Japan in 2004.
In Europe we made a special effort to meet LCHAD families in Sweden
and Germany and Dr. Tiini Tyni, an LCHAD expert in Helsinki. Since
Adam was in the C7 oil study at that time, it took careful planning
to be sure he had his oil in Europe. Fortunately we were staying
with four of my pen pals of 40 years and I could send the oil ahead
to their homes. We never could have carried the necessary 4 bottles
he needed on this trip. Staying with families or at condos on our
trips make it easy to have a place to refrigerate and prepare Adam’s
milk. He now takes 3 6 ounce bottles of fat free milk a day, one
in the morning, one in the middle of the day and one before bed.
In each bottle is 1T of MCT Oil and 1t of Carnitine. Adam takes
a DHA, a multivitamin, Ester C, Vitamin E, and Lutin pill daily.
Unfortunately, Adam noticed a change in his vision this summer.
After consulting with older LCHADs and medical experts, there seems
to be a consensus that the abrupt change may be due to puberty.
He saw his Ophthalmologist recently and he thinks that it isn’t
an increase in retinal pigmentation but just that he needs glasses.
We will go tomorrow to see an Optometrist. He has also been referred
to a Retina specialist who he will see in December.
Adam has become very good at managing his care when he starts feeling
bad, i.e. 'hurty legs’. He drinks massive amounts of sports
drinks like Gatorade and in Japan Aquarius. Usually he can overcome
the Rhabdomyolsis before he has Myoglobinuria and has to be hospitalized.
He hasn’t been hospitalized in over 2 years. Unfortunately,
though, Adam doesn’t seem to be able to control his activities
so that he doesn’t have a ‘hurty leg’ attack.
He becomes involved in ‘just being a boy’ and hanging
out with his friends and forgets to curtail his exercise and drink
lots of fluids. Maybe someday as he matures, he will be able to
learn to prevent LCHAD episodes. He is fortunate to have very supportive
friends who don’t make fun of his lack of athletic aptitude
and strange beverages. All in all Adam is doing fantastic and is
a very loving and caring young man.
vallchadmom@yahoo.com
Adam's LCHAD Home
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