New member!

New Member from the Bahamas, first pacer in feb 22, after passing out for the first time in my life.

Pulse at 30, bp low so I got airlifted to Fla, had the first pacer within 24 hrs.

6 week follow up occasioned a DNA test looking for the cause of my total heart block, and 38%EF, and hypertropic cardio myopathy.

Test came back being positive for late onset FABRY'S Disease which is an X cromosone enzyme disorder!

Have been on a very expensive med for the fabrys which is apparently working,

Had been in the gym for 8 years prior to Hurricane Dorian (sept '19) which clobbered us.

Pacer was replaced in August of '22, with an ICD. (basically just in case).

Went up a ladder in August of '23 the ladder slipped out from under me and left me hanging, which I didn't find any difficulty with however the ladder bumped the ICD on its way down, and while there was no damage or evidence of any injury it was enough to cause the body to reject the unit.

So in for lead and ICD removal, a week of powerful antibiotics in sept '23, with the new unit now in the right chest muscle. Quite the ordeal however EF is now normal (60) and the AV block is gone, ICD is standing by at this point. 

Funny that I just tripped over this group after all the research I've done since Feb '22!

The only issue I have with the newest ICD (Evera) is it needs the bedside monitor, the prior two worked with the phone app.

Anyway, look forward to being a member of this group of fine "enhanced" people.

 

 

 

3 Comments

Welcome to the Club that no-one wants to join

by crustyg - 2024-03-23 04:57:30

What a shocker - late onset Fabry's.  I suppose the correct approach is to be grateful that it wasn't early onset, but I'm not known for having a positive mental attitude (but I'm getting better).  Easy to say, not so easy to do.

It sounds as though you have taken everything in your stride. I salute you!

Best wishes.

CrustyG.

DNA for this presentation: current medical practice

by crustyg - 2024-03-23 06:42:53

I agree about your medical team being on top of things.

Without wishing to parade my ignorance or start a flame war, I think anyone presenting with HCM in this era should at least have a DNA sequencing cardiac panel - which includes GLA from a good lab.  The value of being able to find genetic causes of HCM which might allow preventative measures to be implemented for affected relatives should easily justify the cost.  And a good lab will always analyse mitochondrial DNA for cardiac issues.

But that's just my opinion.  I *try* to keep abreast of DNA advances in cardiac disease, but the field is moving so quickly it's not possible for an amateur.

CrustyG.

Follow up story

by Capt Odyssea - 2024-03-23 12:04:36

When I flew to Fla for the 6 week follow up (think Airline tickets, rental car and hotel)

I tried to find out if tests would be done, scans etc and how long to book for.

Dr came in, looked at the scar, said "that's healing nicely" and turned to leave. I about lost it telling him I could have sent a picture if thats all he was going to do! It gave him pause, said I was too young to have this issue, and ordere the DNA test. Apparently it is often mis/undiagnosed up to 8 times before DNA is checked. I got angry and got lucky.

None of this has slowed me down much at all, as I felt fine prior, although ladders are now out. The only issue post #3 is shoulder impingment/pain, which I've figured out is a 40% common complaint of PM recipients. Never had the issue with #1,2. Supposedly it does go away. Cannot find anything that gives the connection, only that the issue can exist.

  

You know you're wired when...

You have rhythm.

Member Quotes

I finished 29th in London in 2 hours 20 minutes 30 seconds which is my fastest with or without a device so clearly it didn’t slow me down ! I had no problems apart from some slight chaffing on my scar - more Vaseline next time.