Autism and Ataxia

Since my SPECT scan in 2019, my varied neurological issues from the physical like maintaining balance and proper coordination, to varied speech issues and poor memory etc. have continued. Having a combination of autism and other neurological issues makes it difficult to adjust to the many variables that can affect my function on a given day. Diagnosis for these neurological issues aside from my autism has been elusive. Not too long ago, my daughter’s neurologist suggested that she (and therefore also I) might have a rare genetic disorder called Episodic Ataxia. Although, this condition mainly accounts for my coordination and balance problems, not the memory and speech issues.

Episodic Ataxia

Episodic Ataxia is an autosomal dominant inherited genetic disorder characterized by periods of poor coordination and balance. The frequency of these episodes can vary widely by individual from several times a day to a couple times a year. One can have seizures or muscle weakness accompanying the coordination and balance issues. For me, it is hard to define a precise episode as I have subtle coordination and balance problems daily and I get varying amounts of leg weakness. However, some days the symptoms are more pronounced. For example, recently, I did too much forward bending over motion, repeatedly, and all of a sudden, I could tell I had done too much. At which point, it was difficult to walk or change direction as I felt like I was swaying and my body could not coordinate movement effectively. I also had some leg weakness but it wasn’t enough to keep me from walking once I had sat down for awhile to get the “swaying” to stop.

Acetazolamide

Some people have their neurological symptoms improved by taking the drug Acetazolamide. I found that it helped my brain process better — which admittedly is difficult to explain. As Episodic Ataxia is rare, Acetazolamide’s main use is not for that diagnosis. Most of the time Acetazolamide is prescribed for altitude sickness. But it can also be prescribed for certain types of glaucoma as well as other neurological conditions.

It is very important when first taking Acetazolamide or when changing dosages, to have certain blood chemistry analytes checked including pH, HCO3 and a Chem panel. If the med throws your blood chemistry out of whack, it has to get medically corrected. This is definitely not the time to skip the lab tests one’s doctor orders.

Adjusting for the Symptoms

There is no other specific treatment widely known for Episodic Ataxia. Depending upon the severity of symptoms, one learns to makes adjustments. I use a cane on days when the coordination, balance and leg weakness aren’t bad. On days when the ataxia symptoms and/or leg weakness are problematic, I use a walker with a seat. The seat comes in handy for if I have to stand longer than my legs easily can and leg weakness sets in so that I have to sit down. In public, it’s hard enough to fit in with the social and sensory issues of autism, much less to adjust to coordination and balance problems. But I find the cane or walker lets people know that I have disabilities, so they tend to be more patient and helpful.

Brain SPECT scan and Autism

As I mentioned on an autism post earlier this year, autism is hard to separate from dementia in an older adult. Autism certainly cannot be seen on MRI. However, much to my surprise, I have found out recently that autism CAN be seen on a brain SPECT scan. Not only that, but autism CAN be separated from dementia on a scan.

What diseases brain SPECT scan is used for

I want to emphasize here that I am NOT recommending you run out and get a brain SPECT scan to diagnose autism. For one thing SPECT scanning is not anywhere near as ubiquitous as MRI and CT scans.   The SPECT scan will cost more than an MRI, about 4 times more (see billing section below). For comparison, my co-pay for an MRI was less than $100. But even if you have sufficient funds to pay the cash price for a SPECT scan if you don’t have insurance coverage, it is only useful for certain categories of diseases. Quoting from my patient results report, the “American College of Radiology, the Society of Nuclear Medicine and the European Association of Nuclear Medicine establish the utility and scientific validity of SPECT functional brain imaging for detection of cerebrovascular disease and stroke, evaluation of dementia and Alzheimer’s disease, pre-surgical localization of epileptic foci, diagnostic evaluation of encephalitis and evaluation of suspected brain trauma.” Further, “research has also demonstrated regional perfusion patterns associated with other neurological disorders and exposure to neurotoxins, hypoxia and substances of abuse.” Notice autism spectrum disorder is not specifically mentioned.

Why did I get a brain SPECT scan?

I got a SPECT scan because I wanted to see if the scan could demonstrate dementia and/or traumatic brain injury (TBI) in a person who also has autism and ADHD. Additionally, my daughter (in her early 20’s) and I are also being evaluated for possible Huntington’s Disease or something similar. (Note:  Huntington’s Disease is diagnosed by a test for a specific gene. There are Huntington-Disease look-alikes that involve other genes–not all of which can be tested for).

How does a SPECT scan work?

A SPECT scan looks at blood perfusion patterns. Alzheimer’s dementia has a pattern. Frontotemporal dementia has a pattern. TBI has somewhat of a pattern but since severity, location and cause of the TBI can vary, it is harder to call in someone like me who has multiple neurological disorders vs. someone who doesn’t, but has just been in a car accident, for example.  There is research (not a lot yet) that shows somewhat of a pattern for autism. ADHD testing requires more elaborate (and costly) testing than the standard one scan testing I had. I did not have the specific two scan ADHD testing. It is important to note that not all areas of the brain have been mapped and the same area of the brain can have multiple functions. Therefore, a blood perfusion problem in a certain area of the brain can be somewhat ambiguous and difficult to interpret.

My brain SPECT scan results

So how helpful was my SPECT scan? Turns out quite helpful. The Radiologist impressions were: “Autism, possible neurodevelopmental disorder and possible traumatic brain injury.” As aforementioned, I did not have the ADHD two scan testing which is why the “neurodevelopmental disorder” was not definitive. Also as mentioned above, because of my multiple neurological issues, the TBI was only noted as “possible.” An area of the temporal region known to be commonly affected by the type of car accident I had in 1997, was damaged. The important part of knowing this information is the area above my left eye was where that damage was noted — which just happens to be where I get most of my headaches.

Equally important to me is what was ruled out. Note there is no dementia diagnosis. I don’t have a dementia disease; therefore, there isn’t the expectation of the symptoms getting progressively worse until there is the known outcome. Instead, what I have is enough damage in the areas of the brain (mostly temporal) responsible for memory so that I have symptoms that look like dementia but are not. So on a practical level, my brain acts like it has dementia but I don’t have a progressive disease that is a dementia.

Unfortunately, the information for a Huntington’s-type of disease was not noteworthy. In other words, I had noted damage in my cerebellum that explains my coordination, balance problems, dizziness and nausea but it was not severe enough to call a cerebellar degenerative disease. My symptoms are not as severe as my daughter’s who may be able to get a diagnosis from a neurologist as her neurological deficits are more outwardly notable.

Billing

As part of my health care career, I did medical billing. I must emphasize you need to read your Explanation of Benefits (EOB) from the insurance company. This EOB which you get after the insurance company such as Medicare, pays their amount, will tell you what you are obligated to pay. If the company/hospital doing your procedure, collects money from you beforehand, be aware that they may charge you much more than you are obligated to pay. In which case, you are entitled to a refund of the difference. For example, I have Medicare which says I am obligated to pay 20%. This is 20% of what Medicare says is allowable to bill. If Medicare denies coverage for certain CPT codes, you are not obligated to pay anything toward the fees the company charged for those codes. For a SPECT scan, expect to be billed for CPT code 78607 (Nuclear Medicine study of brain) and something like A9521 which is for the isotope used.  You should NOT be billed for codes like 99205 (new patient office visit) as you are getting a scan and the visit is nothing like a doctor’s visit. You should also not be billed for 90889 (preparation of report). I was billed for all 4 of those codes and asked to pay $1100 up front. The Medicare allowed amount for me to pay was actually $405. Don’t expect the company to refund you hundreds of dollars automatically. I had to take the initiative and demand more than once for the company to refund the $738 that I was owed.

Conclusion

SPECT scanning was helpful to me because areas of the brain that had perfusion problems matched up with my autism symptoms, ADHD symptoms, sleep disorder, headaches, dementia symptoms and cerebellar problems. The cerebellar problems indicate to me a developing problem such as Huntington’s disease or something similar because I did not have the aforementioned cerebellar symptoms previous to the last couple of years and they are getting progressively worse. Alzheimer’s disease and other dementias were ruled out. Importantly for my medical care in the future, I now have objective medical test results that document my symptoms instead of the medical establishment having just to take my word for it.

Updated 31 Jan 2020 (Billing information added)

 

NOTE on PHOTO:  Image is from my actual scan. Do NOT copy. Thank you.

 

Autism: Not Broken?

I’ve been trying to write this post for 2 years now and I’m still not sure this is going to come out how I want. But here goes… When I started this blog in 2015, I agreed that we are “not broken” because we are on the autism spectrum. And to be clear, to paraphrase the definition of “broken,” it means “damaged and no longer in working order.” I never thought of myself as “broken,” though I knew I did have some deficits but also clearly…some strengths.

Whether one is “broken,” however, does depend on ones definition of “in working order.” If the definition of “in working order” is can “hold a full-time job,” various surveys of those with autism spectrum disorder have shown that number is only around 14 to 16%.   Additionally, major criteria for determining disability are having trouble with “activities of daily living” (ADLs) which include bathing and feeding.  Now, I’m not talking just about people who physically have difficulty bathing and feeding themselves. If you cannot bring yourself to bathe for weeks at a time or forget to eat on a regular basis, you have some issues with ADL’s.

My point is…perpetuating the belief that those on the autism spectrum are “just different” like a pear is different from an apple, glosses over the very real difficulties that those on the autism spectrum have due to a neurological basis not just some personality quirks….including those like myself considered “high functioning.” But do we have a broken brain? Thus, we are “broken?” I’ll let you decide after you continue reading below; but, MY definition did change in February 2016, when “high functioning” became more like “broken” for me.

“High functioning” for me used to mean getting a bachelor’s then graduate degree followed by working full-time in a professional position in a hospital laboratory. Yes, I had significant social difficulties so there were “corrective action” talks and in later years, several firings usually with the reason given of “not a good fit.”  It was never “for cause.” Because those of us who are autistic are usually highly reliable, methodical and border on, if not actually, perfectionists. And I was no different.

Then one day in February of 2016, I pushed my brain for several hours on a new set of tasks at a job I had started about 6 weeks prior; and work and life was never the same. Now there had been a few warning signs over the last few years…such as decreasing ability to multi-task and some memory issues. Some would call it “normal aging” as I was in my early 50’s. And that’s all I thought it was until that day. When I got home from work (and I’m not sure how exactly I did that) I could no longer do simple tasks like make a meal; and my short term memory was practically gone. Confusion and fatigue became constant companions. Months of tests determined that my brain had slowed down like I was now in my 80’s instead of my early 50’s. I used my father for comparison as he has just turned 90. It wasn’t just all thinking that had drastically slowed down, my balance was off too. I could no longer walk and turn my head to talk or look at something without getting off balance. I couldn’t change the position of my head without getting dizzy. It sure looked like I had a broken brain. Doctors were no help. I did find some brain research that recommended supplements to help my brain to keep functioning and I started taking 20 pills a day. I took 2-3 naps a day. I became a person who had driven from New Hampshire to Alaska in 2015 and now could not drive more than a couple of miles without being overwhelmed.

Flash forward 2 years later and I can read more in one sitting than I could then and drive a bit further … although rush hour driving and highway driving are now things of the past. I now take usually just one nap a day. Otherwise, things are quite the same. I have trouble retrieving words, organizing my thoughts and speaking or writing without meandering. (My apologies if this article is somewhat unclear). I still cannot do a task such as volunteer work of helping hand out food from a food pantry or straighten up donated clothing … for more than 2 hours. Work is out of the question. I have to be very careful not to do too much or do anything too fast.  I still take the 20 pills a day as without them, the confusion and fatigue return in about a day.

So now my definition of autism and whether that means “broken” is quite different than before. I clearly have a broken brain.  Is this a cautionary tale of not working a high stress job for 30 years–if one is on the autism spectrum? And I say “on the autism spectrum” because lots of neurotypicals work high stress jobs such as physicians, nurses and police officers for 30 years or more and don’t have significant neurological problems. Is my case an extreme? So I posted my story on a couple of chatrooms for autistic adults to find out.

It turns out, my case, apparently, is not so isolated. One woman described it as “a door that silently closed in her mind.” A 59 year old man said his mind “blew out” in the mid-2000’s when he was a lawyer, though he is still able to work…doing research. Another woman, who is now 70, said after a life-time of stress she is now “too tired and confused to do anything.” All are on the autism spectrum.

You see in the mainstream media commonly all about the autistic children…but what you don’t see is what happens to those children who become adults and age over the decades.

 

 

 

 

 

 

Welcome to my blog!

I started this blog so that I could relate stories from my childhood and adulthood to show what it is like to live on the autism spectrum. The idea is to increase compassion and understanding about autism. A lot of autism blogs out there are from caregivers. It’s important to get the perspective of people who actually have autism.