The Big Fat Medical Update

It’s been brought to my attention that I have a lot of old health-related posts that I never followed up on, and commenters have been looking for information I haven’t been able to provide for them because they ended up being things that didn’t go anywhere. I only published one post in 2020, and because this blog is no longer my online base of operations, this may be my only post of 2021, so I want to make sure to get as much into here as possible. Feel free to comment if there’s a medical post I forgot to follow up on here, and I’ll edit to add an update.

I’m still autistic. That never goes away, despite the fact that society treats it as something only present in childhood. The main difference now is that my original diagnosis of Asperger Syndrome was removed from the DSM-V and is now classified as Autism Spectrum Disorder. It’s not a disorder; it’s a neurological difference, but getting diagnosed by my psychiatrist was an important step for getting help in the future.

My support needs have gotten higher as time has gone by, which apparently is not uncommon among adults. My selective mutism has become increasingly frequent, often more than once a week, and not always with a discernible trigger – I just can’t speak for the rest of the night. It’s no longer something my husband can snap my out of by asking me a question.

Executive dysfunction has gotten a lot worse over the past two years, and I’ve become aware that I may have ADHD as well as being autistic. If I have ADHD, it’s the inattentive type, not the hyperactive type. With COVID-19 still raging a year later, I haven’t felt that talking to my psychiatrist about the potential diagnosis was a priority. Maybe when it’s safe to see him in person instead of over the phone.

Speaking of my psychiatrist, I’m still living with generalized anxiety disorder and major depressive disorder. I also have PTSD. I had my first two (and hopefully only) suicide attempts in late 2019 and early 2020. I didn’t want to die so much as I wanted the pain to end. The precipitating events were what my psychiatrist referred to as the “worst case of abuse he’d ever encountered.” I think that’s hyperbole, though the emotional abuse I suffered was quite intense. But I wasn’t living with my abuser, so I think that fact alone disqualifies me from being any kind of “worst case” scenario, even when looking at “just” emotional abuse that wasn’t physical or sexual. He started me on Seroquel due to the suicide attempts and the psychotic episodes I experienced. It has definitely helped me survive quarantine, since I’m at high risk for COVID and don’t leave the house except for medical reasons and for one visit (so far) to my girlfriend’s place. She and her roommate quarantine like I do, and apparently her roommate has left the house fewer times than I have in the last year.

The Seroquel, in addition to the physical problems I will go on to describe in the rest of this post that have had me bedbound for two years, has led to a dramatic increase in my weight. I’d already been replacing my wardrobe with stretchier, more comfortable clothing due to pain and decreasing range of motion, but now I’m having to replace those clothes because I’m gaining weight not just in the usual hips, thighs, and butt, not just in my newly expanding waistline, but evenly distributed everywhere. My sleeves are too tight to put on shirts that are only a year old, I’ve gone up four cup sizes in my breasts, etc. I’m less concerned about the number on the scale than how expensive it is to replace clothes. I’ll get back to this.

My mammograms have continued to show that I do not have breast cancer, but I have breast pain that waxes and wanes but never goes away. I’ve been considering talking to my GYN about the possibility of breast reduction surgery or breast removal and reconstruction, even though I’ve read how excruciating recovery from breast surgery can be. And as much as I hate adding new pain to old pain, it might be worth short-term suffering for long-term relief. It can be that bad.

I’ve posted a few times about having a homozygous MTHFR mutation that was picked up on an analysis of my raw data from 23andMe. I tried following a methylfolate and methyl-B12 protocol, but it went very badly. As it turns out, the A1298C mutation I have isn’t the really bad version of MTHFR mutation, so the methylation protocol did more harm than good. I don’t think enough was known about the relative effects of the different gene mutations when I found out about mine to point out that A1298C still allowed about 70% efficiency in the methylation cycle, while the C677T variant is something like HALF that. Not much research has been done on the variant I have because it isn’t as serious as the other, but I no longer follow any MTHFR protocol. I do need to get a new prescription for my Vitamin D3 supplements, now that I’m thinking about supplements.

I still haven’t made an appointment with a research hospital specialist because Dr. Bennett is still having me make the rounds with types of local specialists I’ve never seen before. The only type of specialist I’ve seen more than once was a rheumatologist, and that’s because the rheumatologist I saw years ago didn’t know how to help me, so she sent me to Albany Med Faculty Physicians… only to show that none of the existing tests in the “million dollar rheumatological workup” (more comprehensive than this) found anything rheumatologically wrong with me. This is okay, because it rules out at least one family of ailments as the cause of my symptoms. The specialist at Mass General Dr. Bennett wanted me to see has a waiting list six years long, so she said I might want to see about finding an autonomic neurologist who works at one of the Mayo Clinic locations – all of which would involve expensive travel for me. I stopped looking for who might be the best autonomic neurological for my symptoms when the pandemic started, and I won’t be continuing that search until after I’m vaccinated against COVID along with the rest of my family.

I don’t have mitochondrial disease, which I mentioned in a post referenced in the above paragraph. This was ruled out when I had my EMG and nerve conduction study done, because I had no large muscle fiber problems detected from those tests. BUT…

I do have Small Fiber Neuropathy. I was diagnosed in 2018. This is a relatively new diagnosis within the past decade or two, so there’s still a lot of research yet to be done. The good thing about SFN is that I have indisputable lab results proving I have it, because it’s a tissue diagnosis made by taking two skin biopsy samples from your leg and measuring the density of the small nerve fibers. My nerve damage is significant enough (nerve density below the 5th percentile, controlled for age and gender) for the diagnosis when combined with the normal results from the EMG and NCS. Further testing that is still ongoing is aimed at trying to find an underlying cause for my SFN – it’s often secondary to diabetes, which I’m regularly tested for and still showing up negative – but about 50% of patients diagnosed with SFN have no known underlying cause, so we’re labeled as idiopathic. (Idiopathic is medical-speak for “we don’t know why it’s happening.”)

Here’s the interesting thing about small fiber neuropathy: it could literally explain pretty much all of my other symptoms. Because SFN is both peripheral neuropathy and autonomic neuropathy, there are practically no body systems it doesn’t affect. (Here’s an article from Harvard Health on the subject.) SFN could be responsible for my IBS and abdominal pain, my ME/CFS, my fibromyalgia, and other assorted symptoms. These assorted symptoms include issues with muscle weakness, temperature regulation, chronic pain, occasional tingling/numbness, low blood pressure, excessive sweating, allodynia, dry mouth, purple feet etc. The jury is still out on whether or not my chronic discoid rash is SFN-related.

My fibromyalgia and nerve pain responds fairly well to Cymbalta and gabapentin. It’s still present on a daily basis, but it’s generally tolerable background pain. But when it gets bad? It’s awful! I have a prescription for medical marijuana, and I generally take a 1:1 balanced blend of THC:CBD that doesn’t produce a “high,” but when my pain gets really bad (if it jumps from a 4 to a 5-7) I take the 25:1 blend that does produce a high or stoned feeling – unless my pain is so bad that all of it binds to pain receptors instead of pleasure receptors. In that case, I have a prescription lidocaine gel. Alas, sometimes even this isn’t enough to decrease the pain, and a New York State law means that I can no longer be prescribed opioids because I regularly take a benzodiazepine. (I always hated taking hydrocodone because of the side effects, but it was fairly reliable for pain relief.)

Dr. Bennett believes that I have POTS – Postural Orthostatic Tachycardial Syndrome – but the tilt table test she ordered for me was conducted incorrectly, so it remains a soft diagnosis. The cardiologist she referred me to (to rule out actual heart problems) acknowledged that I do fit the criteria for POTS, but he wonders if it isn’t just part of my SFN. “Not to naysay Dr. Bennett,” he told me, going on to say that she’s the area’s foremost expert on POTS. I wonder if it can’t just be both, because POTS is a form of dysautonomia, and SFN causes autonomic dysfunction. So POTS could just be secondary to SFN. 

The cardiologist wants me to exercise more to get my strength up, but I had to tell him how difficult it’s been to find exercises through Google and YouTube due to the amount of deconditioning my body has experienced over the last year, without even my weekly (back to biweekly) therapy appointments to drive to. So he went from recommending resistance bands and using soup cans as weights to using gravity and my own body to provide resistance. Sitting with my legs over the side of the bed and just lifting each of them in turn, instead of remaining reclined in bed with my legs raised all day. Leg lifts when I am sitting in bed. Rolling over, face down, to lift my legs that way. Focusing on the legs first to build strength will be most beneficial for getting me up and about to work on the rest of my body. I’m taking creatine to help repair my muscles and because it is one form of OTC treatment for SFN.

I have ZERO allergies. Dr. Bennett had me set up an appointment with an allergist in December, since I’d never had skin testing done before, even though I saw multiple allergists and dermatologists throughout my childhood in an attempt to diagnose the chronic discoid rash that’s really pushing the definition of chronic at 32 years and counting! But the comprehensive allergy panel I had done returned no positives but the control reaction to histamine. So I think that means I’m no longer allergic to penicillins, an allergy I had as a baby that many people do grow out of. The next time I need antibiotics for a non-serious infection, I think I’ll ask for a -cillin to test this out. (My reaction as a baby was a skin rash.) 

I’ve had cognitive problems with increasing frequency. Dr. Bennett actually chastised me when I saw her in November 2020, scheduling my appointment because I’d (relatively recently) developed painful skin problems in two different areas of my body, when I should have prioritized my cognition. (In my defense, I’d brought them up on my previous visit in November 2018, but I guess saying something out loud doesn’t have the same impact of writing down examples of specific cognition errors on a piece of paper for her to keep.) The neurologist who diagnosed me with SFN isn’t the right type of neurologist to help me with this, so Dr. Bennett referred me to a neurologist who specialized in memory and cognition. I also have a script for a brain MRI to rule out lesions and tumors, but I’m hoping that only ends up ruling things out! 

I have other mental and physical complaints, but these are the things I hadn’t posted updates about from previous posts, or more important things that I hadn’t yet written about. The biggest thing to have come about in the past few years was my small fiber neuropathy diagnosis, but without an underlying cause, I can still only be treated symptomatically.

Christina Gleason (976 Posts)

That’s me: Christina Gleason. I’m a writer, editor, and disability advocate. I'm a multiply disabled autistic lady doing my best in this world built for abled people. I’m a geek for grammar, fantasy, and casual gaming. I hate vegetables. I cannot reliably speak, so I’ll happily conduct business over email or messaging instead.