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Dealing with Difficulties in Diagnosis of Adult Mito

Mitochondria...what's that?

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.

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Comments

fanazak3@gmail.co's picture

fanazak3@gmail.co

05/30/2009

Hi, I am the daughter of someone with mitochondrial myopathy. His diagnosis came in a roundabout way...My brother and my dad were trying to get diagnosed at the same time. It was decided that they would pursue 2 different things...mm (brother) and Huntington's (dad). The geneticist who saw my dad sent him back to the neurologist that he originally was at and that my brother was at. Well, the neurologist diagnosed my brother (also saying that my father had mm and that my grandfather probably had it too).  Before my dad could go back to the neurologist (in Michigan) we (my dad and mom and I) moved to Las Vegas, NV. The doctor will not write it in my dad's chart, but with my brother's permission, would give us both my dad's and my brother's chart (which says that my dad has it-a bit convoluted, I know) but my brother said no. Now that we are here, since Dec 21, '08, we have had 3 doctors (pcp's) none of which are willing to look into the diagnosis of mitochondrial myopathy-they have not heard of it, so they do not believe it. The first 2 doctors did not even what the medical records from Michigan so not being written in his chart did not even matter. All of them want to just start all the testing over again for the symptoms and not the 'hub of the wheel' as I call it, the mitochondrial myopathy. My dad has gone to hundreds of doctors in his adult life (he is 59). This is the first time we had hope because he has so many of the symptoms of mitochondrial myopathy, but everyone would only look the symptoms and not the whole picture. He just does not have the desire or the strength to start over again. I have given these doctors this web site, but the consensus has been 'if we have never heard of it it does not exist or matter'. How do you find a doctor? Dad knows he cannot be cured, but would like to not be a guinea pig anymore. He has issues like needing a new cpap machine and a rehab chair, but not starting over. Is there any pcp doctors in the Las Vegas area who know what mitochondrial myopathy (our neurologist in MI did not even know much about it before my dad and brother)? These doctors don't listen they don't want to hear if you know something they do not. The other thing we have heard since being here is 'you have had bad advice in the past'. If all doctors think that they know it all and know everything, and all say the others are wrong where does that leave someone? And when did it go from the doctor working for the patient and giving advice to the doctor is the end all of knowledge will order you about as they see fit? I am just looking for a pcp that knows what this is. Can you help? Sincerely yours, Belinda Pan

bluesky's picture

bluesky

06/03/2009

Hi Belinda - I'm trying to get a diagnosis too. I called the UMDF this morning and they were really, really helpful in finding me a specialist in my area and they have specialists they can recommend all over the country. The number is 888/317-8633. Best of luck to you and your family!
janice's picture

janice

06/03/2009

I share in your frustration. It took me 30 years to get a diagnosis. It should never be that way! It sounds like the above comment should lead you in the right direction. All the best!
Gregtone's picture

Gregtone

11/23/2010

Thank you so much for sharing this. The mercury zealots should be ashamed of themselves if they are yapping about hoping their children have mitochondrial disorders just so they can have the possibility of a lawsuit payout.

moussamhanna's picture

moussamhanna

03/11/2014

Hello
My name is Moussa Mhanna
I am Lebanese
I am 32 years old

I suffer from weakness when lifting the hip of the left leg , a drop foot in my left leg and problem while extending fingers ( doriflexion problem ) . I do not suffer from a chronic or serious illness.
This problem was first started in 2005 when suddenly I noticed that my leg feels heavy and I make more effort when I go up the stairs, in 2006 my fingers began to weaken I can not write for a long period of time, the problem continues to worsen , but very slowly so far.

I visited several doctors, specialists in nerve problems but could't reach a diagnosis , they sad that there were no problems in nerve or muscle with all the tests I've done ,
I made a muscle and nerve biopsy. And the results were normal.

symptoms:
1 - weakness when extending in the left hip
2 - drop foot in left leg
3 - quadriceps weakness in both legs especially on the left
4 - weakness of the fingers especialy in the right hand
5 - Muscle cramps

examinations :
- EMG ( several times )
- MRI (back, head, trunk)
- A lot of blood tests
- Muscle biopsy
- Nerve biopsy
- PTH -TSH

Meditation taken :
- Cortisone ( 80 mg / day )
- Vitamins B1- B6- B12
- Dépakine
- Prozac
- Alpha lipoic acid

Important Information:
1 - In 2000 , I had an accident and my left leg was injured
2 - I is an identical twin brother and he did nothing,
2 - I had ceratoplasty in both eyes

Conclusion: The result of all the above tests are normal , I visited many neurologists but nobody has diagnosed my case, for this purpose , I decided to get in touch with you hope you will help me
Thx