Reading the Research: A Lack of Followup Genetics Testing

Welcome back to Reading the Research, where I trawl the Internet to find noteworthy research on autism and related subjects, then discuss it in brief with bits from my own life, research, and observations.

Today's article discusses the minimal followup to receiving an autism diagnosis.  Did you know genetics testing for conditions Fragile X is recommended?  I didn't.  I certainly wasn't told to have any done after receiving my diagnosis.  I've had only minimal testing done, much later in life, and only on the suggestion of my LENS doctor/nutritionist.

The recommendations are relevant, though.  There are various genetic conditions that can go hand-in-hand with autism, and knowing which conditions you have can mean the difference between scraping by and thriving.  For example, I have a condition that means I don't process and get rid of toxins in my body as well.  I got a MTHFR (methylenetetrahydrofolate reductase) test to find this out, but it cost me a pretty penny to do so, plus my insurance wouldn't pay for it.  

I also likely don't absorb zinc from my food terribly well, because I got tested for that and it was catastrophically low.  So was my vitamin D level, which... you mainly get that from being in sunlight, and I work and play indoors.  That's somewhat less true now, as I've taken to going for walks with my spouse and the weather's finally nice enough to go biking.  It's fortunate that going outside is a basically COVID-safe activity.  Pathogens can't build up and become concentrated in the open air, which is fortunate since getting enough vitamin D is critical for my mood and wellbeing.  

Genetics testing can clue you into awareness of things like seizures, hyperthyroidism, sickle-cell anemia, and other complicating factors.  Having this sort of information in advance means not having to worry and wonder for years, until the symptoms force you to go to the doctor and demand answers, then spend months waiting and worrying for test results and specialists.  

The tests can be expensive, which is another limiting factor for statistics like this.  Medicaid may or may not cover the costs, and you may need a doctor to specifically recommend getting them.  I hope, someday soon, that these tests will be both immediately recommended and covered by insurance or at least sufficiently inexpensive that anyone who needs them can get them done.  In the meantime, knowing their existence and benefits is better than not knowing.

(Pst! If you like seeing the latest autism-relevant research, visit my Twitter, which has links and brief comments on studies that were interesting, but didn't get a whole Reading the Research article about them.)