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Dealing with Difficulties in Diagnosis of Adult Mito
Mitochondrial disease in adults is a complicated disorder to diagnose. It has myriad signs and symptoms and body systems involved. This, coupled with the fact that it is not a well-known disorder, makes diagnosis a long and difficult task.
The symptoms of mitochondrial disease can fluctuate day-to-day, as can various test results, thus complicating the picture. The situation is made somewhat easier if other family members have already been diagnosed with Mito. It usually takes a variety of specialists to diagnose the problem but even then, one central doctor, such as a Mito specialist (of which there are few), is needed to coordinate the various test results and the clinical picture into one -- not so simple diagnosis.
Organizations such as the United Mitochondrial Disease Foundation, The Muscular Dystrophy Association, or the National Organization for Rare Disorders all have helpful information.
It may be necessary to go to a big center to find the doctors you need to care for you if you are unable to find any locally. It is also a good idea to have ample time allotted to your appointments so as to have enough opportunity to discuss all the various problems. The difficulties in obtaining a diagnosis make the whole process very frustrating for both doctor and patient.
Some doctors not finding anything conclusive may infer that the patient's problems are functional, that is, "in their head." This leaves the patient dealing with not only the miseries imposed by the disease itself but the misnomer of some kind of psychiatric illness. This in turn raises the patient's stress level further, possibly inducing depression and compromising diagnosis and treatment by other physicians. Thus, one of the key things for a Mito, or "possible Mito" patient, is to find an informed, supportive physician. It is helpful if your doctor is open to new ideas and treatments. This is harder than it sounds, and you may find yourself going through more than one or two doctors before finding one that is both knowledgeable of the disease as well as being supportive in the struggle to find a diagnosis.
It is important that you become as well informed as possible about mitochondrial disease: reading related articles, consulting the Internet and so on. It may be necessary to take copies of some of these articles to your doctors, although discouragingly, they may profess to not have the time to read them. Mitochondrial research is a relatively new field, which changes rapidly so your research needs to be current and up-to-date. You need to believe that you are the "team leader" of your medical team and that you have a definite role to play in assisting with your diagnosis.
Consulting with friends or a personal or online support group may lead you to a good physician as can consulting with other doctors or medical personnel. Unfortunately, fatigue levels, such a major part of Mito disease, is a difficult symptom to quantify for the health professional. Believe in yourself! You are probably the most knowledgeable about your particular condition and don't be afraid to voice an opinion to your doctors.
Keep a record of your signs and symptoms, ie. seizures, blood sugar levels etc., and always keep your history up-to-date with your latest test results, consultant reports and so on. This way you have information to share with a new consulting doctor if necessary.