MedicalGRM: anybody know about mast cell activation “disorders”?

Buckle up. I've posted a few times in the last couple years about various health maladies - all related to the search for answers for my now 22yo son. 

Summer 2020 his life took a turn that was initially attributed by med professionals as mental health. Pandemic. Viruses. Using Zoom for university classes. Yada yada. Why not mental?

He insisted from the jump that it was something physical - but mom and I aren't inside his body and we want to help so we started trying to use what we can to figure things out.

General medicine, counselor, and Psychiatrist(s) were consulted. Literal thousands spent out of pocket including to the acclaimed Amen Clinic who did brain scans indicating "lots of unexplained brain activity". For a while the dx went toward bipolar, depression, OCD. Rx for SSRIs followed which amplified stuff - basically lit him on fire. WTF is going on?

In reality two years later we find out the real McCoy is physical. Like the kid told us at the beginning. Blood pooling in the feet and staying there when he stands. Brain signaling "pump that blood" and circulatory system ignoring the signal; brain subsequently sending massive adrenaline rush to try and balance things... you ever try to function normally when the adrenaline surge is "continuous"? 

It's the kind of E36 M3 that puts college onto a back burner...

Then the gift of an Apple Watch revealed evidence that his pulse was running to 200+ doing simple things like pushing a mower on a stamp sided yard - and it doesn't come back down for 20-30 minutes. berkeleying scary. For a kid who was running 90 minutes playing soccer a year prior - now he can't even jog. Walking too fast yields the same - rocketing heart rate and very slow "recovery".

Following tons of research - enter cardiologist #2 (after a 10 month wait for a consult) who is a "dysautonomia" specialist (1st Cardiologist did a stress test, said wild BP numbers no big deal because he is young) landed on POTS. This condition means your body position is out of sync which your brain and circulatory system. The doc suspected Marfan syndrome - recommended genetic testing ($$$) which was able to rule out Marfan syndrome and the geneticist suggested Ehlers-Danlos syndrome. Basically a mysterious mess that you don't cure you just adapt to. Supplements and crazy restricted diets become the norm.   

Now the dots start to connect and we find that there is yet another mysterious malady called Mast Cell Activation Syndrome (or disorder) MCAS that leads to POTS. The descriptions align really well. Basically many triggers, environmental (certain foods, heat, mold, possibly electromagnetic.. or Virus..) and the immune system gets confused. Triggers must be systematically identified and removed to calm the explosion.

So.. I have over shared - shocker. Sorry. It's been a wild ride. Thanks for coming along if you have made it this far. Since GRM knows all - I'm asking... does anybody here have experience with MCAS?

I've never heard of MCAS but you're doing a great job sticking with the problem and helping your son. 

CrustyRedXpress said:

I've never heard of MCAS but you're doing a great job sticking with the problem and helping your son. 

I appreciate that greatly. I also feel tremendous sympathy for others without the means to keep throwing money at it. 

For a while we even wondered "is he scamming us" and I hugely regret ever thinking that (knowing what I know now). 

I can do no more than to pray that you and your son find a way to overcome this.  Be ever persistent. 

I am not familiar with this, but I hope that it can be managed. 

I shared this with my wife who has dealt with similar health issues for many years. Hopefully she'll be able to help.

Aforementioned wife here! First, I'm so sorry you're all dealing with this! Thank you for believing your son. Please don't stop that even when things get hard or if doctors tell you he's faking it (a surprisingly common occurrence). I've had MCAS and at least 4 other conditions since 2007. 

First, the 2020 timing has my radar up for this being long-COVID. Yes, long-COVID can cause all of this and more! Any chance that's a factor here?

Next, has your son tried any of the POTS treatments? There are really helpful lifestyle modifications and medications that can really help with that. 

​​​​​​EDS is a good theory as well, it's commonly associated with MCAS, POTS, and other related conditions and it's super helpful to know if you have it to prevent joint damage down the line. 

For MCAS, H1 and H2 blockers should help symptoms generally. Avoiding triggers like you mentioned is a whole ordeal but absolutely worth it in my experience. Personally, my POTS and MCAS aren't tied tightly. They flare independently and at my best with MCAS, I still definitely had POTS. 

Is your son dealing with a flare of symptoms (flu like symptoms, fatigue, pain, etc) 24-48 hours after overexerting? If so, there is another direction to investigate with another set of potential treatments. In general, I'd recommend he join some Facebook groups for MCAS, POTS, etc and get connected with others with the same conditions. 

Thanks all. Not everything goes according to plan - life throws a lot of curve balls.

In reply to tinypotato :

Thanks for responding!

My son's trigger response is not typically pain or flu like symptoms. Most common is sweating and exhaustion, also anxiety and "brain fog" due to adrenaline. He has a couple of scripts but mostly regulates with supplements, salt, antihistamines. He has moved to Vermont to get out of the hot humid southeast and is attending college this fall - but only part time. Foods he can eat are very limited. Almost entirely fresh. 

The proximity to Covid "timeline" is not lost on us and the cardiologist and geneticist who both specialize in disautonomy cases are extremely busy right now as a result. If this is what others are calling "long Covid" they definitely have my sympathy.

My wife is a healthcare professional (PT in a large urban hospital specializing in oncology, mostly blood cancers) and she and my son both do a ton of research via blogs, Facebook, Reddit, podcasts. Like hours every day. 

edit: he is actively doing POTS strengthening exercises (Children’s health of Philly  protocol) and walking as much as possible... on flat land. 

Is he able to tolerate the POTS strengthening without flaring symptoms? I think it's important to know about post-exertional malaise as if he has that, going over his limits repeatedly is dangerous: https://me-pedia.org/wiki/Post-exertional_malaise#Characteristics. Exercise helps a lot of people, and people with POTS! But not people with post-exertional malaise and POTS (me, for one!) so I wanted to mention it. 

In reply to tinypotato :

Yes he can tolerate it the strengthening without flaring.  

The reactions he has seem to be allergic. After certain foods the skin turns red and you can draw on him. "Dermatographia". Also blood pressure drops triggered by food and environment. He is truly a science project right now.