Recently a reader send me the following e-mail asking if I would review his complex medical history to see if I could contribute any helpful suggestions. With his permission I am posting a summary of his email to see what suggestions readers (patients or doctors) might have for this gentleman.
Hello Doctor Wade,
My name is *** and I am contacting you in hopes you will be able to aide in a difficult diagnosis for a medical problem that has taken a serious toll on my life and has had a negative impact on my quality of life and ability to be a student. I have had multiple periods throughout my life where I have had significant flare up of a variety of symptoms that affected every area of my body and in the periods in between(1.5 to 2 years) I have chronic but non-severe symptoms. I will try to provide a clear chronology between the last flare-up and the most recent. I hope you can find the time to read the detailed and lengthy description below. I hope you can help me figure this out.
Cordially,
***
He reports that a first degree relative was diagnosed with neurofibromatosis type 2 and had what he calls a neck aneurysm that burst causing left sided weakness and sensory loss.
My history-
When I was a child I received neurological and genetic testing. I was not diagnoised with NF. However, at that time I was diagnosed with encephalopathy, motor dyspraxia, adhd and severe speech disorder. I received speech therapy, occupational therapy and was in special education classes until the forth grade. After the forth grades remarkably improved and by the sixth grade I was in an A-B student, in advance math courses and had artwork displayed in shows. I continued to do well in school until I was 20.
Scoliosis, carpal tunnel syndrome, periodic limb movement. Farsightedness left eye, 80/20, right eye 20/20.
September to December 2010.
I began to have extreme fatigue which despite an adderall prescription(20 mg) I was still sleeping 10-15 hours a day , leg weakness on the left side which resulted in the dragging of my foot. Also general weakness and numbness throughout my body, tingling sensations and muscle twitches. Also moderate back pain which became worst and more noticeable after a long period of standing or walking. In addition during that period I had what I would describe as nerve sensitivity and that was manifested in the constant need to take baths or showers and after that period I noticed intermittent burning in my legs. Also during that time I had several episodes where I would could vaguely recall intense shaking at night.
I began having severe stomach pain that would persist throughout the day along with a few episodes of grey stool, constipation and diarrhea. Also my concentration became very bad as well as poor short term memory. . At that time I was a smoker however I found my breathing capacity diminished and had difficult walking up a flight of stairs without feeling winded. In addition I had thrush as well as a dark red tongue and a chest rash that was diagnosed as fungus rash. Also excessive thirst and excessive urination along with burning while urinating. Also blurry vision, sensation of pressure behind both eyes, conjunctivitis, periodic appearance of yellow spots and development of eye floaters. Migraines during that period. Low cold intolerance, i.e 200 a month heating bills, albeit electric heat. Also after this period I noticed I suffered severe memory loss where I forgot the experiences of what came before and also the loss of subjects I had taught myself during that period(economics, finance, public policy and law) I did not become aware of until later which I will explain. In January 2011 my symptoms improved and I returned to work.
Medical tests during that period.;
Repeated CBCs which to my knowledge had normal results. Lyme disease-negative. Vitamin b12 deficiency-negative. Diabetes mellitus- negative. Urianalysis -normal. Metal poisoning-negative MRI-results normal. Also several times I went to the ER and I did not receive those records, but I know I received an ekg and presumably blood tests where the results came back normal. Unfortunately because of work as well as doubt that my illness actually occurred I did not follow up with specialists.
In January 2012 I started having constant muscle twitches, general pain and dark green stool and burning when urinating and frequent urination. These symptoms persisted despite antibiotics for a UTI and also a referral to a gastro where I was tested for celiacs disease and chrons disease with negative results and a barrium x-ray that showed a hernia near the rib cage but no ulcers or otherwise problems. This period is blurry but my symptoms progressed and in April I saw my doctor with complaints of excessive fatigue, constant stomach pain, back pain and poor concentration along with continued burning while urinating. He did not order any tests and recommended I increase my neurontin dosage. Unfortunately around this time my insurance was cancelled so I could not continue to see my doctor and my symptoms progressed worst to the point my short term memory was very poor, I had difficulty concentrating and my stomach pain and fatigue prevented me from going to classes. Also when speaking with others I would begin stuttering and losing my train of thought. Also periodic intense itching at night. Most of that period is blurry, I remember on July 1st I went to visit a friend and then 27 days later it was if I had just woke up. I had no recollection of what preceded that period and I had migraine, dehydration, numbness/pain on the left side of my body, jaundice skin,blurry vision, night blindness, yellow spots in my vision, difficulty breathing, extreme fatigue, facial pain, a drunk like stupor and also staggering when walking. Also muscle weakness and a pronounced weakness, i.e before becoming sick I lifting 60-100 pounds on fixed resitance machines and after it was difficult to push open a door. In addition to severe burning when urinating and lower back pain. At this point I had realized I had suffered severe memory loss, I could not really recall the things I had did, what came before which is generally fuzzy, the experiences I had and also what clearly allows me to identify the memory loss, is the loss of subjects I learned during that period, a complete loss.
I went to the hospital and was briefly admitted for dehydration and a high heart rate. I was given an IV and also potassium. The EKG showed I think a high heart rate or what the nurse called a “jacked heart rate” and I was also told I had hypokalemia and dermatitis. The doctor told me that because they measured my urination after giving me the IV that I was not dehydrated and although she tested my blood for alcohol along with liver tests which were negative, released me and accused me of being intoxicated. I very rarely drink, nor did I drink during the period I started to become sick again and I don’t use drugs.
After I went to my doctor and he gave me a few tests which were all negative or showed normal results. A 24 hour urine test, a lyme disease test, vitamin b12, cortisol, lupus, cbcs,hypothyroidism and diabeties inspidius. Also a chest x-ray, leg x-xray and back x-ray which were normal.
Also I saw a cardiologist and an echocardiogram which did not show any abnormalities and treadmill test which was normal.
I continued to have extreme fatigue, very poor concentration, numbness on the left side of my body, significant stomach pain, general weakness and muscle pain until a few months ago. It should be noted too that after that period I fell into poverty and I ate little and was also received little sleep because of my housing arrangements, once those things were corrected my symptoms improved but did not go away. A few months ago I saw a neurologist again and received a MRI/MRA and am scheduled for EMG testing. I do not know the results of the MRI/MRA and see my neurologist next month.
Tomorrow the reader continues his detailed history.
