Anybody have experience with Marfans syndrome?

My 21yo has been on a difficult road last two years. After lots of investigation (and money) a cardiologist may have gotten us closer to connecting some dots and figuring out what ails him. Anybody traveled this path before?

I don't, but looking into it, no wonder they've been having a tough time.

Best of luck and medical science to both of you.

Duke said:

I don't, but looking into it, no wonder they've been having a tough time.

Best of luck and medical science to both of you.

Thank you Duke. Treatment plans are the next step. I can tell you it is no damn fun questioning the sincerity of a great kid who swears something is wrong with his body.. while the same E36 M3 is physically amplifying his anxiety.

Not a good thing to have, but so much better to know what it is and start to treat it. 

Regarding science the HR monitor in an Apple watch was integral to connecting some of the dots. 

charlesmox1 said:

Most people don't know about it. My sister works with patients with this syndrome. What prognosis was your child given?

Initial diagnosis only. Going back for testing in late June to try and gauge the level of the condition and then formulate a treatment plan. It doesn't seem to be something you can cure but rather something you have to adjust your life around it. Keeping a periodic eye on the aorta and valves is critical though and some part swapping (if not organ replacement) may be on the table somewhere down the road. 

Learning as we go. Genetic testing is underway to try and rule it out or confirm a diagnosis. The geneticist my son saw this week is familiar with the condition - and she doesn't think he has Marfans. Her initial Dx is "hypermobile ehlers-danlos syndrome". hEDS which 1:5000 lucky souls get to live with. 
 

I have no particular reason to think it but I suspect all our bodies being full of plastics and various chemicals in our drinking water is directly related. 
 

OHSCrifle said:

Learning as we go. Genetic testing is underway to try and rule it out or confirm a diagnosis. The geneticist my son saw this week is familiar with the condition - and she doesn't think he has Marfans. Her initial Dx is "hypermobile ehlers-danlos syndrome". hEDS which 1:5000 lucky souls get to live with. 
 

 

My sis swears she has that.  Never been diagnosed, but she knows she has it.

My wife has Marfan's.  She had open heart surgery at age 63 to replace a valve and part of her aorta.  She's 75 now and doing OK, last echocardiogram looks good, so she has been lucky.  People with Marfan's don't all have the same symptoms.  Good luck, hope all turns out well in the future.

Jim Pettengill said:

My wife has Marfan's.  She had open heart surgery at age 63 to replace a valve and part of her aorta.  She's 75 now and doing OK, last echocardiogram looks good, so she has been lucky.  People with Marfan's don't all have the same symptoms.  Good luck, hope all turns out well in the future.

Thank you and best wishes to your wife.  

mad_machine said:

OHSCrifle said:

Learning as we go. Genetic testing is underway to try and rule it out or confirm a diagnosis. The geneticist my son saw this week is familiar with the condition - and she doesn't think he has Marfans. Her initial Dx is "hypermobile ehlers-danlos syndrome". hEDS which 1:5000 lucky souls get to live with. 
 

 

My sis swears she has that.  Never been diagnosed, but she knows she has it.

Is she able to exercise? That's the hardest thing for my kid who played 90 minute soccer games just a couple years ago.

Now his pulse shoots to 175 just getting out of bed. Over 210 if he tries to jog or cut the grass with a push mower. 

..life definitely doesn't always go according to a plan. 

 ehlers-danlos syndrome 

- Most folks who have this are really flexible. My wife's cousin has it and needs braces and crutches to walk because her knees don't lock. She was a gymnast when she was younger and enjoyed showing off her flexible. Go figure. 

I've also read that folks with MFS differ from those with EDS due to impacts on cardiovascular system. Folks with EDS typically have a lot more joint issue, strains, tears, nerve issue, spinal and CSF issues, headaches, etc. Where as MFS and POTS have similar symptoms.

They are highly related so its my understanding that the treatment and prognosis for all of those disorders are similar. 

I only know this because when I popped my Dura a few years ago it was one of the possible causes for a spontaneous CSF leak.

Neurologist ruled out POTS because I don't have many heart issues - although I do have a pretty speedy heartbeat. Hmm...

In reply to pheller :

Leaky spinal fluid? Ouch

Update- Had consult today following cardiologist testing. Dx is POTS for sure and treating for hEDS which has a lot of overlapping symptoms with Marfans.

Got him a couple new scripts. Thankful for my wife who understands this stuff and has patience that never ends.