Diagnosis survey results



Diagnosis survey results

Of the 50 CPT II deficient patients who completed the diagnosis survey, 35 had symptoms by the age of 14.
The youngest age of onset reported in this group of patients was 3 years and the oldest age of onset was 58 years. The average age of onset for all 50 patients was 15 years. 3 of the patients received a diagnosis the same year the symptoms began. However, 15 patients had symptoms for 20 years or longer before receiving a diagnosis. The longest time reported between onset of symptoms and diagnosis was 35 years. The longest time spent seeking a diagnosis was 29 years.

Average age at onset of symptoms	15
Average age when patients began seeking a diagnosis	19
Average age when patients received a diagnosis	27
Average number of years spent seeking a diagnosis	8
Average number of years from onset to diagnosis	12

The 50 patients saw a total of 266 physicians in their search for a diagnosis, an average of 5 physicians per patient.
Specialties most often consulted were neurology (39), family practice (32) and internal medicine (25). Other specialties that were reported: rheumatology (13), pediatrics (12), endocrinology (7), sports medicine (7), genetics (5). 24 of the 50 patients said their physicians provided adequate information about CPT II deficiency and 19 were given treatment options. 22 patients said their physician offered guidelines for daily management. Not surprisingly, most patients rated their physicians all positively or all negatively in these three areas of information giving. Comment: "Even though the neurologist who diagnosed the CPT II deficiency said 'just eat a lot of carbohydrates and follow a low-fat diet' that's not a lot of help. I decided to become educated on CPT II deficiency. Now I can at least try to stay away from fatty foods and make sure my carbohydrates intake is high. I'm still very frustrated because without additional studies to determine what does or doesn't raise my CK levels, I really don't know if I'm doing all I can. I still have a lot of muscle pain, so I don't think I'm controlling the disease as best I could if I had a cooperative physician." Editors: Check out the case history at www.spiralnotebook.org/newimproved/ For this woman with a partial deficiency of CPT II, a combination of diet and cofactor therapy was successful in alleviating muscle pain and lowering creatine kinase (CK) levels.

33 of the 50 patients received at least one incorrect diagnosis before receiving a diagnosis of CPT II deficiency.
3 patients were told the dark urine was caused by kidney problems or urinary tract infections, even though their urine cultures were negative. Five patients were told there was nothing wrong or that their symptoms had a psychological origin. Other initial diagnoses that were later reversed: fibromyalgia (5) McArdle’s Disease (4), polymyositis (3), phosphofructokinase deficiency (1), multiple sclerosis (2), muscular dystrophy (1), long-chain acylCoA dehydrogenase deficiency (LCAD) (1), hypoglycemia (1), Guillan-Barre syndrome (1), thyroid disorder (1) Reye’s syndrome (1), arthritis (1), subcutaneous tissue layer infection (1), chronic fatigue syndrome (1), dystonia (1) ALS (1), C1 esterase deficiency (1), steroid myopathy (1), proteinuria (1), limb girdle muscular dystrophy (1), drug-induced myopathy via Statin--a cholesterol-lowering drug (1), dehydration (1). Comments: “When I was a teenager and had muscle pain and dark urine, my pediatrician told my mother that my body produced too much lactic acid and that if I drank more fluids I would be fine. I believed this all my life until 1997.” “I was told the problem was growing pains or the result of an active imagination.” “Nobody tried to diagnose the problem.” “The physician gave me clarity on a number of triggers and lifestyle issues.” “I was diagnosed 2 weeks ago. The doctor knew very little regarding CPT. I have a return appointment in July. EKG and exercise tests were conducted years prior to the biopsy.” "Since my son was 6 or 7 years old I suspected something was wrong. The pediatrician told me I was a hysterical mother and that he knew what he was doing. It wasn't until 5 months ago [when my son was 17] that we went to a neurologist and he gave my son some metabolic studies. And there is was [the diagnosis]." "My diagnosis at the Mayo Clinic in 1982 was simply a description of my attacks: 'periodic paralysis' and 'myoglobinuria.' I can't say this was an incorrect diagnosis, just not a complete diagnosis."

43 of the 50 patients received a diagnosis through enzymatic analysis of muscle tissue.
6 patients were diagnosed through enzymatic analysis of cultured skin fibroblasts and 1 patient was diagnosed by mutation identification. Additionally, 4 of the 50 patients were screened for known mutations in the CPT2 gene. Other diagnostic testing reported: electromyogram (EMG) (28), electrocardiogram (EKG) (20), glucose tolerance (15), exercise test (14), additional enzyme assays (13), ketones (8), lactic acid (7), fast (7), amino acids (6), organic acids (1), magnetic resonance spectroscopy (1).

32 of the 50 patients said they benefited physically from having a diagnosis.
Comments: "Because [my disorder] now has a name, I found this near-life changing website!!! Sure, my doctor told me all sorts of stuff, but it seems to have gone in one ear and out the other. I guess I've figured there's nothing I can do about it, so why bother. I do my best to get along. There have been no conclusive remedies, but there are all sorts of things in this newsletter that I have learned and will try. As far as the doctor offering treatment options, it was only the diet thing that I had already figured out on my own, empirically, over the years. Same goes for guidelines for daily management. " “Diagnosis is critical to understanding how to keep the disorder in check hour by hour, day by day. Knowing the importance of exercise, rest, and nutrition has helped. It’s also helpful for my physician to know that when I have viral or bacterial symptoms with fever, I need immediate medical attention.” “I have benefited from having a name for my condition so I could seek the expert knowledge of a geneticist. Knowledge is power! I am learning new ways to handle my condition all the time.” “I am more careful with the known triggers now. Though many other things can set off symptoms and they can be unpredictable, it does help to have the known triggers not so unknown to me.” “I have been able to manage my condition much better, and consequently haven’t suffered my ‘bad attacks’ for a couple of years, although symptoms are present to a minor extent daily.” “It helped to know that what I’d had all my life was real.” "I have learned to control my diet better, though I had no follow-up after my muscle biopsy and can’t seem to find any additional information on my hospital visits.” “Much improved due to diet.” “Mentally, it made me want to explore avenues of defenses. I was told there were only 2 people that were like me and they died at 28 years and 42 years. I am 55 and a male. I am having symptoms constantly. I am trying to help control them through a very low-fat, high-carbohydrate diet. I can’t walk for more than a few minutes. I can toss the ball twice a day for my dog. I feel fatigued always. I am going to a dietician now—I am about 15 pounds overweight. I feel depressed a lot. I was a teacher for 24 years and had to quit. I have a wife who is very supportive (33 years), two children and 6 grandchildren and a son-in-law and daughter-in-law. I just wish I could feel better.“ “It caused me a lot of stress not knowing what was going on. Stress is one of the causes of my CPT episodes.” “I thought about answering NO because it was only bringing me down, knowing that I have a disease without a cure, but YES is my answer because in case I wasn’t diagnosed I would never find this site.” "I was doing everything wrong before I knew I had the disease--playing hard tennis for hours, and not eating. This did me in." "Justified working less and not trying to keep up with others physically." "I have learned to eat more carbs and saw a nutritionist. Less stressful after not knowing [what was wrong] for over 10 years." "I felt like I had something to fight against instead of feeling like it was all in my head. With my mental well-being improved, my physical health improved also. I began to look around for relevant information and pestered my doctors until they agreed for me to try nutritional supplements. At first they were very reluctant but I told them I would take it anyway unless they could prove to me that it wouldn't work or I would harm myself taking them. Having a diagnosis means the difference between knowing what I can do is not always what I should be doing and that prevention in this case is really the only medicine." "Now I know what my triggers are, what to avoid, and am beginning to understand how to manage it." "I have benefited from my diagnosis in only very limited ways. I now have some understanding of what is causing the discomfort and therefore I drink a lot more water and avoid certain triggers. I have found that many physicians (my own included) know very little about CPT II and I have received little or no information on how to manage the disorder. Most of my knowledge has come from my own research through the internet. My husband and I are planning to start a family, but no one seems to be able to answer any of my questions about how the muscle disorder could affect the pregnancy." Editors: For information on pregnancy and CPT II deficiency, visit Special Delivery. Women with CPT II deficiency who would like a full-text copy of the Dreval research paper on this subject can contact the Managing Editor.

Thanks to all the patients who participated. To view the original questions, visit the diagnosis survey form.
Related links: Tandem Mass Spectrometric Assay for the Determination of Carnitine Palmitoyltranserase II Activity in Muscle Tissue Myoglobinuria and carnitine palmitoyltransferase deficiency: Diagnostic procedure and differential diagnosis What Ails Ya? Interesting interview with an MDA doctor that focuses on how he goes about making a diagnosis of muscle disease.