|
A few years ago, (Christmas holidays 1994 to be exact)
I was enjoying a cycling holiday around Tasmania which is an island
located at the bottom of Australia, and planning my next holiday
which was to be another cycle trip to New Zealand. After that, my
plan was to tour parts of Europe and England.
Cycling is (was) a great way to get around and you
see and appreciate much more when traveling slowly. I am by no means
a fitness fanatic—not like my brother who was at the same time
cycling from Manchester, England to Madras, India which is a distance
of 10,000 miles. However, I was somewhat proud of my legs which
were all muscle and could carry me 100 miles in a day against a
headwind.
I had never heard of mitochondria or any of the dozens
of enzymes that service them and would have never have guessed what
the future could hold. Sure, there were a few instances when I had
heart palpitations and even a couple of related seizures but any
test I had showed everything was fine. The heart tests showed I
had a heart, the brain scan showed I had a brain (and no sign of
epilepsy) and the blood tests showed I had plenty of blood. 'There's
nothing wrong with you," I was told.
Over the years I figured out that if I ate certain
foods (fatty or oily) I would have palpitations and at worst, the
ticker would be tired for a few days. Try explaining to the doctor
at the emergency room that your heart was trying to kick it's way
out because you had over indulged on Mom's carrot cake.
One medical text says that it is speculated that a
sudden rise in tryglicerides may cause cardiac arrythmia. Since
several others with CPT problems have the same symptom, I would
think that the CPT connection to this symptom is very strong.
Apart from the odd cold or flu, I had no problem until
the end of '95 when I was working with a colleague who liked to
make life hard for everyone. I won't bore you with the details,
but after several months of putting up with his antics, I started
to get very tired. By mid '96, my legs were starting to ache. This
was rather alarming as I had never had this problem apart from aches
and pains associated with a cold or virus. I started visiting doctors
as my condition became worse and ended up taking 10 weeks off work
as I could hardly walk from the pain. I would get breathless even
walking to the front door. During this time, my joints were aching,
muscles aching and I kept forgetting to breathe (which is a bit
of a worry when sleeping) and my lower back was killing me.
I think I visited about 20 doctors and specialists
over the next several months and had lots of tests and was given
lots of blank looks when I tried to explain my symptoms. I found
it was best not to even mention the work situation as many doctors
try to avoid anything that may involve workers compensation.
Eventually I was advised to see a local doctor who
believed me (thanks Dr. Cathy!) and kept sending me for tests until
the problem was found. I have a 90+% Carnitine Palmitoyl Ttransferase
deficiency.
Apparently, I have always had a few enzymes missing
but the system could cope quite well until overloaded. When the
body is exercising for prolonged periods, cold, ill, fasting or
stressed, it requires the utilization of lipid (stored) fats for
energy. This is where I come unstuck.
I soon found out that there was not much information
available and there was no treatment except that patients are advised
to observe a low fat diet and to exercise in moderation. Fortunately,
my other brother is a doctor and he sent for some information from
NORD which was very helpful. This provided me with several clues
to more information and I started writing letters to all corners
of the globe. One address was the FOD Family Support Group. I received
some excellent information and a package from Deb Gould which had
me puzzled as I poured over the pages looking for CPT links. This
was a great education for me as I started to understand the complex
mitochondrial system and how all the enzymes work and what happens
when they don't.
After corresponding with a few of the CPT patients
on the list, I took a doctor's advice and connected to the INTERNET.
Wow. There is so much information on the web that I now have a thick
folder full of information. I have also discovered the power of
email and over the last few months have been in constant contact
with others with the same problem. I am not alone! It is great to
be able to share your problem with others who understand what you
are going through and to help each other with support and share
ideas. Diane Martinson whose symptoms are 'atypical' like mine,
has developed a great website
for CPT patients and Barbara Seamen has now published our very
own CPT newsletter in conjunction with Dr. Vladutiu who is an active
CPT researcher and has recently discovered a 15th mutation for this
problem!
The number of mutations is probably why some people
have problems only when they have exceeded their limits and others
are in pain all the time. It may sound bad but once you realize
your limitations and concentrate on other things, you can still
enjoy life.
Fortunately, this is a very rare problem (less than
250 cases documented in medical literature over the last few decades)
although it is thought some patients with chronic fatigue symptoms
may actually have a CPT deficiency. Unfortunately most doctors have
only limited reference to mitochondrial problems as everyone with
an FOD problem will know. However, as many CPT patients are now
in contact with each other, new links are being made to symptoms
that were thought to be unrelated. Perhaps the medical fraternity
will listen to groups of patients rather than individual cases.
(My motto: 'there's safety in numbers.')
Being an adult with an FOD problem, it is bewildering
to come to terms with such a problem and so hard to get anyone to
listen to you and I can understand how frustrating and frightening
it is for children and their parents when things go wrong. We would
like to thank the Goulds and all the FOD staff for all their hard
work because without their effort, all the CPT patients they have
helped bring together would still be feeling lost and alone.
P.S. I did go to New Zealand last Christmas and even
walked the Milford track, which I always wanted to do—even
if it was only the first 2 miles!
David Killey
Chesterhill NSW Australia
dandmkilley@bigpond.com
|
