Thank you for this. POTS and hypermobility run in my family and I find this very interesting and helpful to read about!
I had read a paper that posited that the higher rate of neurodevelopmental disorders (ADHD, autism) diagnosed among those who have a hypermobility disorder could have something to do with the disease processes involved with hypermobility/POTS/MCAS affecting neurodevelopment in addition to hormone regulation and inflammation, and that might be why mothers with hypermobile ehlers danlos syndrome have high rates of autistic children compared with the general population.
Thank you, Christina, for commenting on this. If you haven't already, you might look at Dr. Sharon Meglathery's RCCX Theory website. I think the paper you read aligns with RCCX theory. It's worth noting (and I may not have mentioned it in this article), but many strengths relate to this triad, which again is explained well by RCCX theory.
Dr. Snyder, thank you for this fascinating post. I’ve briefly perused Dr. Meglathery’s website and will check it out again with closer attention.
I’m very interested in learning more about which alleles of the genes described are associated with the dysfunctional polygenic processes.
I’m working on some psychiatric bioinformatics coding and would love to get cracking at a piece of code to identify relevant polygene variance in a genome dataset that may be significant such that clinicians can gain useful insight.
Thanks again for sharing this information with the community.
Thank you for commenting on this and sharing the interesting work that you're doing. The variants for 21-hydroxylase referenced in RCCX Theory, can not be tested for commercially at this point. There are likely many places on the gene that could be having a range of impacts on the functioning of that enzyme and thus stress hormone pathways. Sharon has a very active Facebook group called RCCX and Chronic Illness that you might find interesting.
Have you found that your symptoms cause extreme burning upper back pain and shortness of breath? I was diagnosed with ADHD at 12 and with POTS at 22 after suffering for 2 years after having COVID.
Please feel free to clarify. I'm not sure if you are asking about, "my" symptoms or another person commenting. I think you might be asking if these symptoms are consistent with RCCX related conditions/symptoms, which they could be.
Hi. There is not a way to test for the genes at the time. There are a number of things that can be done to help lower the burden on the 21 hydroxylase enzyme (which is involved in cortisol production), support someones physiology and lower the stress response. That could mean addressing toxicity, inflammation and nutrient imbalances, but it can also mean lowering daily stress and lowering the stress response in the body. There are a number of ways to do this, often needed in combination, including things like limbic system retraining, accessing the vagus nerve, EMDR and other therapies, mindfulness. There is a website ( https://www.rccxandillness.com/) and Facebook group run by Dr. Sharon Meglathery that you might be interested in.
Thank you for this. POTS and hypermobility run in my family and I find this very interesting and helpful to read about!
I had read a paper that posited that the higher rate of neurodevelopmental disorders (ADHD, autism) diagnosed among those who have a hypermobility disorder could have something to do with the disease processes involved with hypermobility/POTS/MCAS affecting neurodevelopment in addition to hormone regulation and inflammation, and that might be why mothers with hypermobile ehlers danlos syndrome have high rates of autistic children compared with the general population.
https://pmc.ncbi.nlm.nih.gov/articles/PMC7711487/
The causal pathway between this cluster of physical, mental and neurological symptoms sounds complex to disentangle.
Thank you, Christina, for commenting on this. If you haven't already, you might look at Dr. Sharon Meglathery's RCCX Theory website. I think the paper you read aligns with RCCX theory. It's worth noting (and I may not have mentioned it in this article), but many strengths relate to this triad, which again is explained well by RCCX theory.
Thank you, again.
Dr. Snyder, thank you for this fascinating post. I’ve briefly perused Dr. Meglathery’s website and will check it out again with closer attention.
I’m very interested in learning more about which alleles of the genes described are associated with the dysfunctional polygenic processes.
I’m working on some psychiatric bioinformatics coding and would love to get cracking at a piece of code to identify relevant polygene variance in a genome dataset that may be significant such that clinicians can gain useful insight.
Thanks again for sharing this information with the community.
Thank you for commenting on this and sharing the interesting work that you're doing. The variants for 21-hydroxylase referenced in RCCX Theory, can not be tested for commercially at this point. There are likely many places on the gene that could be having a range of impacts on the functioning of that enzyme and thus stress hormone pathways. Sharon has a very active Facebook group called RCCX and Chronic Illness that you might find interesting.
Understood, I will pay special attention to the genes described, CYP21A2; TNXB; and C4.
Thank you for recommending the facebook group, I'll be sure to check it out.
Have you found that your symptoms cause extreme burning upper back pain and shortness of breath? I was diagnosed with ADHD at 12 and with POTS at 22 after suffering for 2 years after having COVID.
Please feel free to clarify. I'm not sure if you are asking about, "my" symptoms or another person commenting. I think you might be asking if these symptoms are consistent with RCCX related conditions/symptoms, which they could be.
Is there a way to test for the genes and most importantly, can anything be done?
Hi. There is not a way to test for the genes at the time. There are a number of things that can be done to help lower the burden on the 21 hydroxylase enzyme (which is involved in cortisol production), support someones physiology and lower the stress response. That could mean addressing toxicity, inflammation and nutrient imbalances, but it can also mean lowering daily stress and lowering the stress response in the body. There are a number of ways to do this, often needed in combination, including things like limbic system retraining, accessing the vagus nerve, EMDR and other therapies, mindfulness. There is a website ( https://www.rccxandillness.com/) and Facebook group run by Dr. Sharon Meglathery that you might be interested in.