Lauryn Melzer

Lab Report by Lorenzos Nurse

What is adrenoleukodystrophy (ALD) and how can it be treated?

History:
In 1910, Spieler and Haberfeld documented the first patient to have
ALD. The patient was a six-year-old boy that first was brought to see a
doctor because of his very bronzed, skin discoloration. He also had some
blurred vision and abnormal behavior in school. Months later he became
incontinent, Unable to control excretions, to hold urine in the bladder, or
to keep feces in the rectum (MedicineNet.com). He also developed spastic
tetraparesis, which is weakening in the muscles. In addition, he developed
an inability to speak, and couldnt walk anymore. At age seven he was
hospitalized, and then he died about eight months after. In 1963, nine
additional cases of patients with ALD were reported. By 1972, doctors
discovered/learned more about ALD. For example, many doctors
discovered that ALD is genetic, only men/boys get it, and is carried on by
the mother. Because of ALD, the adrenal cells consist of fat droplets (lipid
inclusions) which are cholesterol esters (dietary lipids) that have many
very-long chain fatty acids (VLCFA). In 1976, the first record of the adult
form of ALD was diagnosed, and in 1977, ALD was officially named
adrenoleukodystrophy. Since 1977, there was no major breakthroughs in
ALD research.

Data:
Lorenzo Odone, my patient, was a boy with parents named Augusto
and Michaela. He was born on May 29, 1978. At 6 years of age, Lorenzo
started acting up at school, which concerned his mother and teachers.
Day after day, Lorenzo had more tantrums. Later, on Christmas, Lorenzo
lost the ability to hear, or as the doctor would say that his ears can hear,
but his brain is having trouble listening (Miller). Lorenzo was put through
many scans to figure out his unusual behavior and the reason behind his
inability to hear. Days later, his doctor diagnosed him with ALD.
An ALD patient produces too many fatty acids, specifically c24 and
c26, that build up in the brain and causes the myelin sheath to disappear.
Myelin is a fatty like substance that acts like a blanket, and it protect the
the neurons in the brain by wrapping around them. Myelin also increases
the speed of electrical communication between neurons (brainfacts.org).
When the myelin is being destroyed, it causes disability throughout the
body (emedicinehealth.com). That could include losing the ability to hear,
control bowel and urinary movements, and memory loss. Other possible
symptoms include losing the ability to walk, talk, eat, swallow, and breathe.
Lorenzos doctor told his parents, he had 2 years to live, because
that is the average amount of time that an ALD patient dies after
diagnosis. He also said it was incurable. Later, Augusto was contacted to
put his son on an experimental trial from the childrens disease
association. The experiment was to stop eating foods that contain long
strands of saturated fats, like olive oil, peanut butter, and spinach for 6
months. This was supposed to stop fatty acids from building up in the
brain. This causes many disabilities.
It was Lorenzos 7th birthday and he completely lost the ability to
walk on his own. Weeks later, after he was on the new diet, his test came in
and his saturated fats levels rose. Lorenzos parents questioned if it was
working. After Augusto and Michaela confronted the doctors, they told
Lorenzos family to keep on the diet to possibly wait for it to kick in. In
addition, Lorenzo started chemotherapy to stop more symptoms to pile
on. While in chemotherapy and 10 weeks after diagnosis, lorenzo had been
having trouble speaking,
which occurs because of ALD.
Lorenzos parents then
researched ALD and realized
that this diet was inefficient
and just produced more
saturated c24 and c26, which
ALD patients already have
over 4 times the amount an
average healthy person has.
The saturated fats are
examples of the very-long
fatty acid chain in the
adrenal cells, which is what
causes ALD. Augustos idea
was to, instead of stopping
the intake of saturated fats,
was to load up on less harmful D-Health
M
 saturated fats. This would cause the body to not overcompensate and
produce way too much of saturated fats c-24 and c-26.
Lorenzos swallowing began to weaken. His diet was mostly pasta.
After Augusto and Michaela created this new idea, a meeting of many
specialists and doctors who were interested in ALD talked with Lorenzos
parents to talk about the movement on their new medicine.
The substance, created by Augusto and Michaela, is olive oil, which
contains oleic acid. Later, Lorenzo started consuming the oil through a
tube that went through his nose down into his stomach because he lost
the ability to swallow. This disability also caused his saliva to get stuck in
his windpipe and he had episodes that were similar to having a seizure,
except for he knew what was happening during the episodes. After his
parents called a doctor, it was said to be because of his inability to
swallow his spit, which then went through the throat and into his lungs. In
a healthy child, the spit would stop before going into the lungs by
coughing, but Lorenzo lost many of his reflexes to do so.
Lorenzos level of saturated fats lowered by 15%, then to 50%
because of the oil. These big drops in his levels stopped when Lorenzos
tests came back a couple weeks later. His levels only dropped by less than
5%. Lorenzo needed constant suction in his mouth to stop his saliva
getting into his lungs and cause his seizure-like episodes. Eventually,
Lorenzo lost his memory and officially
couldnt hear. After continuous weeks of showing no difference in
Lorenzos levels of his saturated fats, Lorenzos father decided to do more
research to figure out the reason why the oil was not working as much
anymore. After much research, Augusto came to the conclusion that the
enzyme(s) in the body that produces the chains of fatty acids, was having
trouble making them. When he spoke with doctors, they figured out that
an acid called erucic found in rapeseed oil could help this problem.
Once Lorenzo started to use his Dads oil concoction, his saturated
fat levels returned to that of an average child. Also, Lorenzo could go
without needing the suction machine for multiple hours, unlike before. His
memory was coming back, and he could answer questions about books
and simple questions about his family and himself by blinking. He was also
slowly regaining the ability to move his pinky finger.
After seeing him get better, I felt it was appropriate to leave.
Therefore, I was not present for Lorenzos death at age 30. I have heard
different things on how Lorenzo died. Some say he died from heart
disease (nytimes.com). Others say that Lorenzo died by aspiration
pneumonia (telegraph.co.uk).

Conclusion:
A patient with ALD has a high level of very-long fatty acid chains,
and it is important to lower them because these fatty acids build up in the
brain, causing the myelin sheath around the neurons to be destroyed. This
destruction causes symptoms of ALD. These symptoms include losing the
ability to walk, talk, swallow, see, hear, breathing on someones own,
seizures-like episodes, and move any body parts. The drug Lorenzos Oil
has been used by many patients with ALD, and it has also stopped their
symptoms from worsening, delayed many of their deaths. Lorenzos death
motivated me to find a cure for ALD, because Lorenzos Oil is not a cure. I
have seen many boys suffering from this horrible disease and I want it to
come to an end. While Lorenzos oil did prolong his life to 30 years, is there
a cure for ALD that other future ALD patients can use?