dystrophy
The
Beginning:
I would like to tell you about my family’s story, and hope to raise awareness
concerning the link between Addison’s disease and the more severe genetic
disorder, called Adrenoleukodystrophy.
Some
years ago, my six year old son was diagnosed with Addison’s disease. I
am sure all readers can relate to the relief my husband and I felt, when,
at last we had news of an effective treatment for many of the symptoms
my son had been suffering. We finally had “an answer”, to the severe gastroenteritis
experienced for two years, sometimes requiring hospitalisation.
With
hindsight, we know that we were lucky to survive his first Addisonian
Crisis, when he was in hospital for a month, repeatedly vomiting blood due
to a gastric ulcer. This episode required three blood transfusions, and
despite numerous investigations, (gastroscopies, checking very near his
gastric nerve), we were sent home, without treatment, and advised to
“treat him like any normal child.”
Eventually,
the ulcer healed. A year later, the same thing happened. We had another
ambulance trip to our nearest capital city (- over an hour away), and,
with my son nearly comatose, finally an endocrinologist was called to
his bedside.
At
last, the diagnosis of Primary Adrenal Insufficiency was made! It was
Christmas Eve, and the relief, that he finally would be O.K. was a great
Christmas present. My husband and I are grateful that he survived five
Addisonian Crises, without directed/proper treatment. With this diagnosis,
it seemed such a simple thing to be able to treat his adrenal dysfunction.
From that experience, we learned to “trust our instincts”; particularly
those that make a parent think that “something is not quite right with
their child”. We did still question why a little boy would develop Addison’s,
and we wondered if our other two sons could have it also.
Some more blood work was done, and treatment began. We thought the worst
was behind us. As a family we were adjusting to the notion of oral steroid
replacement for life. We were unaware that adrenal insufficiency can be
often associated with ALD.
One
evening, during this time, we hired the movie “Lorenzo’s Oil”. It tells
the story of a little boy who becomes very ill. His parents struggle to
find a cure for his rare condition. We watched it, and thought, “Well,
Addison’s disease is bad, but it’s not THAT bad!”
The
Bombshell.
The day after the movie, I received a disturbing phone call, from the
endocrinologist. He asked us to come in and discuss some test results. It
was a call with foreboding.
Our
doctor told us the shattering news that our eldest son had ALD
- Adrenoleukodystrophy, a very serious, progressive genetic disorder.
It is the same disease depicted in “Lorenzo’s Oil”. Soon afterwards, my
three year old son was also confirmed as having Addison’s and ALD. Our
youngest, is thankfully unaffected.
Adrenoleukodystrophy,
is an “ X–linked” metabolic disorder, found to occur in many races across
the world. A male with ALD, cannot break down a type of fat in his cells.
Very long-chain fatty acids accumulate, and destroy the adrenal gland
and the brain. ALD can affect males in a number of different ways. About
one third of males born with ALD, are likely to get the fatal childhood
cerebral form, which causes brain damage. Most males who survive childhood,
get the adult form, Adrenomyeloneuropathy (AMN). This affects the spine,
and is a bit like Multiple Sclerosis, in that sufferers slowly lose voluntary
motor control, the ability to walk, and become wheel – chair bound. Up
to half the patients thus affected, develop central demyelination. A small
percentage of males survive unaffected, or have Addison’s only. They can,
unknowingly, pass the gene to their daughters, who, in turn, pass it on,
to their sons. In about 50% of cases, females carriers can also develop
some syptoms of AMN but carriers do not get Addison's.
ALD
in Australia.
In Australia, the incidence of ALD is slightly more than one per 20,000
people. There are about three dozen known families, in the Australian
Leukodystrophy Support Group. That means that there are probably many
other male carriers “out there”, who remain both undiagnosed and unaware
of carrying this genetic time bomb.
In
learning more about this condition, I attended The International Leukodystrophy
Conference in the U.S.A. While there, I heard that up to 30% boys diagnosed
with Addison’s disease, may also have ALD, and may develop either condition
at any time. Males with Addison’s can determine their ALD/AMN status by
having a simple blood test.
The Women’s and Children’s Hospital in Adelaide, is our national
referral laboratory for diagnosis. These days the link between Addison’s
and ALD, is more widely known by endocrinologists, so talk to your doctor
if you have questions relating to this.
Living
With ALD in the Family.
Many years on from the time of the movie, and the use of Lorenzo's Oil
as a treatment for ALD, is still controversial. To date, there is no effective
conclusive treatment for this disorder although bone Marrow Transplants
can help if treatment is commenced early enough at onset of symptoms.
BMTs may provide the enzyme which is missing in boys affected with ALD.
Some suggested
treatments concern restricting the affected person, to a low fat intake.
Our boys have become used to this, and do not seek hamburgers and donuts,
etc. as a first choice for a snack. This is a pro - active thing we CAN
do, which is better than not doing anything at all. Low fat diets are
healthier generally. However, there is no clear clinical outcome resulting
from this strategy. Regular brain monitoring is recommended. We have six
-monthly MRI's performed, to keep a close check on things.
Of course, steroid cover is ongoing for the Addison's.
The
Future.
Until
the day of diagnosis, our lives had been blissfully ignorant of the genetic
time bomb ticking away in our family. We now live in the shadow of not
quite knowing when it may 'go off '.
As the years go on, our sons remain unaffected neurologically, the only symptoms being Addison's disease. However, we now take nothing for granted, such as the simple hope that our two boys will become teenagers, and adult men.
Our
knowledge means that we live life to the full, and try hard to focus ‘on
the positive’. We do hope, and pray that there will be some medical breakthrough
in the area of gene manipulation therapy which will save their lives.
In the meantime, our best outlook is for Addison’s disease to be the only
thing that happens to them.
From
a member of the Australian Leukodystrophy Support Group (ALDS).
http://www.alds.org.au
The
U.S.A. website for the United Leukodystrophy Foundation is http://www.ulf.org
