David's Story
Adult onset CPT 2
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.
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