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Ask Dr. Arun Phophalia Your Own Question
Dr. Arun Phophalia
Dr. Arun Phophalia, Doctor (MD)
Category: Health
Satisfied Customers: 34324
Experience:  MBBS, MS (General Surgery), Fellowship in Sports Medicine
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I was just diagnosed with a few scattered foci of the sub cortical

Customer Question

I was just diagnosed with a few scattered foci of the sub cortical t2 prolongation in the left frontal lobe. They also found my cerebellum has mildly atrophied. I have autonomic dysfunction that has affected my vision, walking abilities are slowed to a snails pace and I need to sit on a little stool I carry each time I stop. I am 48 and look young for my age and very healthy. I take Mestinon that keeps my diaphragm, stomach, intestine, bowel and bladder functioning. I have patchy small fiber neuropathy, autonomic neuropathy, Wicca syndrome, a biopsy showed my salivary glands have atrophied. I have kyphosis now and a mild twist to my spine, which is new. I've got every type of tremor in my body except for my ears, nose and toes. Everything from a fast tremor that doesn't allow me to eat soup, to my torso swaying. I have dismotility from my tongue to (can't spell) orengheal dismotility, esophageal dismotility and more. When I drink water, it comes back out my nose. I have tissues everywhere in the house. The list of my symptoms and diagnoses goes on and on. My husband and I have been waiting for a comparison brain scan that shows that my cerebellum has atrophied for a multiple system atrophy diagnosis. I had an MRI two years ago that showed no atrophy. My regular neurologist said there is no reason to repeat an MRI right now because it would be too quick to see a change. Another neurologist ordered an MRI and found within two years there was atrophy. No one will tell me anything. I'm not hearing back from my regular neurologist who didn't think the test was needed right now, and the person who gave me the test results over the phone couldn't speak English and was confused and literally missed telling me anything. When I saw my test results online, all the nurse said was how on earth did you get to see that online? I told her it's standard practice for their hospital to post all of my test results online. Why wouldn't I see them? She was really amazed that I got access to that information. It sounds like I wasn't supposed to.
So anyways. What do you honestly think a reasonable diagnosis could be. We are pretty bright people. Well aware of my major neurological symptoms. Specialists at Dartmouth say I am the most complex patient they have seen and they don't know what to make of me, so I keep getting passed along to the next doctor. A rheumatologist at Dartmouth after talking with me and examining me for 4 hours told me two years ago that every muscle, organ, and gland is going to atrophy on me. He told me my muscles are a mess and my nerves aren't communicating with anything properly, so they will atrophy. Parts of my adrenal glands have atrophied, so I have to take several medications to make up the difference of them not functioning.
I went from barefoot waterskiing, golf club champion, downhill ski racer, everyday mountain biker, to disabled in a very short period of time. Within 3 years. Now that you've heard just part of my ridiculously long mess, what do you think? I'm ready for the truth. Especially about the atrophying of my cerebellum. One doctor told me he knows I have major problems and to sit back and it will present itself, because it's in the process of doing so. Does the atrophying cerebellum lock a diagnosis in finally? Boy that was long! Too long to go back and proof. Sorry for any errors :-)
Submitted: 1 year ago.
Category: Health
Customer: replied 1 year ago.
I forgot to say, "Thank you" ...
Expert:  Dr. Arun Phophalia replied 1 year ago.
Hello,I am Dr. Arun and will be helping you today.I am sorry that your question was unanswered for long. What did your blood tests show?Was a biopsy of some tissue recommended?
Customer: replied 1 year ago.
I have had more blood Tess than words can say. There are absolutely no indicators that I have an autoimmune disorder. I can't remember all of the test results over the last three years or so that many results we just mildly out of range, so not considered to be a problem. One that particularly bothered me for some reason was my co2 came back slightly abnormal twice. I have so many "abnormal", but again... Not enough to cause alarm. My liver blood work is fine except my BUN is consistently just a little low. They just found in an ultra sound that I have non fatty liver disease. They can't explain it, because it doesn't fit into my healthy life style, so they attribute it to my autonomic dysfunction. I have a cyst on my liver that keeps growing and they just found something on my spleen that I haven't had time to get tested. I Don't know what it is yet. I've only had one routine blood work test come back normal in at least three years. Usually it's my white blood cells, the things that begin with "N and L" are always just a bit low. My thyroid had always tested normal. We were really hoping it was Lyme disease, but my Western blot came back perfect. My heaven metal testing came back fine. My iron is a little backwards?? My doctor said when people have a problem with their iron, it's the exact opposite of what my blood work shows. He was a little baffled. I think the iron is being stored in my liver. They tested me for hymochromatosis, which came back normal.I live in Burlington, VT and I was on a plane coming back, and the poor pilot flew the plane at 5,000 feet for over an hour while I had an oxygen mask on because my pulse ox kept dropping. I'm Really not supposed to fly, and I've gotten away with it until now. I'll be fine if I just bring oxygen with me. It stressed the pilt out, more than me because I was able to see my numbers come up, so I knew I was fine.I walk at a snails pace. My brain won't let my legs go any faster. It's really strange. My kids are really sweet and ask me to just allow my husband or mother to push me in a wheelchair. I have quite a sporty red one, but I won't use it. We all just walk very, very slowly and I carry a stool with me to take breaks st sit. I'm only 48, I'm 5'6" and 124 lbs, I look perfectly healthy, unless I turn white as a ghost with black circles under my eyes. It's very hard to believe I'm in such tough shape if you were to look at me. I've had it written on my charts, "look younger than my age". I ad to write that as a joke. It's the one thing I seem to have going for me.I don't know if you are aware that I have great cholesterol numbers, no blood pressure problems, or diabetes. My blood pressure does tank out sometimes because of my autonomic dysfunction. I randomly checked it, when I was checking my friends. I had no symptoms and my blood pressure while standing was 60/30. I was quite surprised. I don't think that happens often, but I'm not taking my blood pressure very often to know.What type of biopsy where you talking about? Hopefully not on my brain :)I am sending my MRI that was taken at Dartmouth to a specialist in neuro-radiology and autonomic disorders. I'm on my way to Cape Cod today for vacation, so I'lol be gone when the disk gets to my house. I'm going to mail it to them with a complete list of my symptoms. I guess it's just wait and see. It's quite a bummer. I've got a 12 and a 15 year old. My daughter when she was 14 went to high school two days a week and the other days worked full time for the top lobbying firm in the state sitting in senate hearing committee meetings by herself, responsible for certain bills. She feels as if the senators, reps, speaker of the house, lieutenant gov, and gov are raising her. I'm just limping along as best I can, trying to keep up. My son is awesome and brilliant himself. They really love me. They tell me absolutely everything that goes on in their lives. We are a very close family. I hope I don't get bad news. It will really destroy them. I obviously just vented to you. I keep most everything to myself. It's too much of a burden (painful) to dump it on other people. Thanks for listening. Hope I didn't bore you to tears :-). Sue. This is way too long to go back and proof. Sorry for all of the grammatical errors. I'm writing quickly. My daughter would be horrified....
Expert:  Dr. Arun Phophalia replied 1 year ago.
Hello and welcome.This can be mixed connective tissue disorder which is an autoimmune disorder. But if you have not be investigated for deficiency and metabolic neuropathy; you doctor may get work up for following; Investigations to ascertain the nutritional neuropathy; Thiamine (vitamin B 1 ) deficiency: A serum thiamine (vitamin B 1 ) level Pyridoxine (vitamin B 6 ) level Folate deficiency: Serum folate levels . Niacin (vitamin B 3 ) deficiency: Urinary excretion of N -methylnicotinamide Cyanocobalamin (vitamin B 12 ) level Pantothenic acid deficiency: Excretion is less than 1 mg/d. Alpha-tocopherol (vitamin E) deficiency: The serum α -tocopherol (vitamin E) level. Investigations for metabolic neuropathy: Hypophosphatemia: Serum phosphate level Biotinidase levels Aminolevulinic acid synthase in urine (porphyria) Arylsulfatase A and B (leukodystrophies) Hexosaminidases Urine oxalate levels Serum lactate, ammonia, and pyruvate Urine myoglobin Muscle histochemistry Enzyme assays of muscle, blood, and fibroblast Leukocyte glycogen levels to detect acid maltase deficiencyLeukocyte, DNA analyses (McArdle disease) Please feel free for your follow up questions. I would be happy to assist you further, if you need any more information.Thanks for using Just Answer.
Expert:  Dr. Arun Phophalia replied 1 year ago.
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