So I had my second appointment with my Neurologist at the end of January.
If you aren't aware, I've had a difficult and contentious relationship with said Neurologist. It began when he didn't send my anti-seizure meds rx for my EssentialTremor, to the pharmacy last year when I ran out of that rx. He said it was due to his testing positive for Covid and having to go home immediately, yet he said he sent my rx to the pharmacy that day.....which he did not. We had to make numerous phone calls to the Neurology dept. to find out why the rx was never sent to be filled. Only later did we find out about the Covid thing and why on earth did he not ask a fellow Neurologist to send the rx either before or after he left the building?? Boggles the mind......
Then I was sent in July for a brain MRI, received the results but not being a Neurologist I really had not clue what it meant. We had to call and message through the patient portal for a solid month and then go to the patient advocacy department as we never received a reply or any information what that MRI showed for a solid month afterward.
Again, we were given the excuse that the Neurologist was out of the country and would contact me when he returned(though we were never given any indication on when this would be).
Finally the Neurologist called and using "word salad" conveyed that they didn't know why I had, using his words here, "extensive white matter lesions in my brain". We all get white matter lesions as we age but this was different. He scheduled me for 5 blood tests to detect whether this condition was caused by a virus of some kind. I had a test for HIV, Syphilis, John Cunningham Virus, Antinuclear Antibodies and Varicella Zoster(Chicken Pox/Shingles). The only test that came back positive was the Chicken Pox one as I had had the Shingles vaccines in the past 2 years so that one being positive was normal in my case.
So he scheduled me for a Nerve Conductivity Study and an EMG test(you can look those up if interested). The NCS was conducted in November and it showed I had serious nerve issues(nerves were not firing as they should and I had demyelination of the nerves in my arms and legs. The EMG was not performed as they felt there was no need to do it after I "failed" the NCS....though I was told technically, you can't fail a NCS.
These findings concerned me since I have a family history on both sides of MS and my first cousin on the paternal side died a few years ago of ALS, which are all neurological muscular illnesses.
Some noise was made about further tests(bloodwork ones)that day in November but nothing was scheduled.
I followed up again in December before we left on our trip to PA, asking about the NCS findings and what the further tests would be and when they would be scheduled and got no reply.
Again, while in VA I messaged through the portal and no response was forthcoming.
While driving back from visiting my brother in VA on January 3rd, my phone rang and it was someone in the Neurology department acknowledging my last message from late December and telling me that my doctor was again, out of the country due to a Visa issue(he is from India)so he is out of contact with his patients but he told this person in Neurology to tell me that "you have nothing to worry about". Not very reassuring to a patient with neurological issues, a family history of MS and ALS who is not being given answers for going on a year at that point.
Sometimes in January after returning from our trip the Neurologist got back into the country and actually called me one evening. He reassured me that whatever was going on in my brain was not connected to my ET diagnosis and probably was not something to worry about. He asked about how my ETs were doing and after I answered that the rx he had put me on the previous February was only working sometimes and I still was unable to perform fine motor skills except for during some small windows of time when the tremors didn't seem as bad(ie-writing and sewing), he added a second medication to my regime.
So I show up to my second Neurology clinic appointment at the end of January. While I was not hopeful, the Neurologist did seem to take my concerns more seriously and he spent more time with me and also brought in the head of the clinic to confer with him. A 15 minute cursory appointment dragged out into a 2 hour visit where they went over that brain MRI, asked me extensive questions and explained more fully what they thought was going on in my head.
At this appointment the story I was given has changed. They(the Neurologist and the Head of the Clinic that he consulted with and eventually brought into the exam room)now believed that my Essential Tremor diagnosis is correct and they changed one of the rxs I was on for that. But now, the "Extensive White Matter" in my brain became a totally different issue from the Tremors.
They both believe my brain MRI indicates that I have a type of Leukodystrophy.
Leukodystrophy is you look that up, general presents in infancy and/or childhood. The head guy asked me a lot of medical questions at that visit about my childhood, which was unremarkable besides my severe allergies at birth. Then they asked about my ancestry(Hubs shot me a "good Lord, don't get her started on genealogy" look at that one).lol Basically there are certain leukodystrophy diseases that are prevalent in certain ethnic populations and they were wanting to know if I had any Ashkenazi Jewish ancestry as that's one of those populations where certain identified Leukodystrophies prevail. And no, I do not. I am a Northern mostly Western European 100% in ethnicity as my DNA testing has shown and the whitest white woman on the planet. 8-)
Leukodystrophy describes a group of more than 50 inherited neurological disorders that medicine has identified. These diseases affect myelin much like MS, which is the protective covering on nerve cells in the brain, spine and throughout the body. Leukodystrophies cause a progressive loss of leurological function in infants, children and sometimes adults. The medical community is still discovering more types of these diseases. It mostly presents in childhood and the condition is progressive and incapacitates the child and/or results in death. It is very rare for Leukodystrophy to present in an adult, but when it dies, it usually presents in the person's 40's and 50's. This adult onset form is a rarely studied and understood disease.
The Neurologist now believe I have been carrying these white matter lesions around in my brain since childhood but I have been asymptomatic for Leukodystrophy disease for 60+ years and it has never progressed. They view me at this point as a medical mystery and have ordered even more genetic type tests and more MRIs on my spine, etc. Basically I am now a medical guinea pig and one day, I may end up in a JAMA article or paper as a case study. yay me.
So I still have no diagnosis or name for whatever it is that is rattling around in my brain. It is caused by a gene mutation, usually inherited but genes can mutate spontaneously. They may find in the end that I am just a carrier of whatever this unnamed version of Leukodystrophy is, and other than demyelinating of my nerve cells it won't kill me.
There is no cure at any rate and they still don't know much about this group of diseases.
The Neurologists are currently working me up for Globoid Cell Leukodystrophy or Krabbe's Disease. This one is prevalent in populations with Jewish Ancestry so I doubt it's the right diagnosis but they have to start somewhere, right? The latest string of genetic blood work which has to be sent to the Mayo Clinic by the way, the results so far is not backing up this diagnosis.
Basically these Neurologists have no clue what I have or don't right now. And I doubt they will put a name to whatever this is before I die. I don't see them again for another 9 months and no one seems in much of a hurry to give me a diagnosis(if that's even possible).
I have raised concerns with my PCP over this and due to how I was treated when I initially visited this Neurology clinic, so I now have a second opinion consult set up with a Neurologist in a different healthcare system down here in May.
So that's just one thing I've been dealing with since last February.
Mutant Brain Sluggy
