So today I learned about Marfan Syndrome

[South Austin 52,454]

The doctor who did my 13-year-old son’s camp physical this morning expressed concern that he has signs of Marfan Syndrome. He cited his long fingers that can bend backward, and how he can wrap has thumb and forefingers overlapping around his wrist, which apparently not many people can do. I then showed him that I have those same traits. The doc asks if I’ve ever had back or heart problems and I say no. He tells me that Marfan Syndrome is a problem with the body’s connective tissue, and while it’s usually not a big deal except for possible joint and back problems as you get older, it can weaken your aortic valve, which doesn’t sound awesome.

The doctor recommended that I tell my son’s PCP about this so she can decide whether to give him an EKG to see if he has any signs of a heart issue. My annual physical is in a few weeks, and I’m going to ask my doc about this.

Anyone have any experience with this?

[YGIFS 19,449]

Sorry to hear this.  There was a hot minute when we thought our daughter may have had it, though it does not run in our family.  We saw some specialist at Dell Children's who is apparently the leading figure on the topic in Texas.  I'll dig up her name if your PCP recommends a workup.  We did an EKG and some version of an MRI plus bloodwork because of her breastplate and elongated limbs.  Thankfully, she's kinda growing out of it and it was not Marfan after all.  But rather, a Sternum Excavatum issue.  They warned us though to monitor her blood pressure and breathing just the same.  Apparently with girls, the real risk is later in life during pregnancy.  Apparently it can be lethal to both mom and baby.  Obviously your son won't have that issue but yeah, I'd stay on top of it just for heart reasons alone.  I'll try and dig up this specialist's name.  But were I you, I'd go ahead and make the PCP appointment with your newfound knowledge as he is probably about go through one of this last growth spurts at that age and then when the connective tissue thing really can run rampant.  Or god willing, subside.  good luck, god bless.  

[South Austin 52,454]

Thanks, man. Appreciate the info very much.

[YGIFS 19,449]

Okay, so it was Dr. Whetherold.  But this was like 7-8 years ago, and it appears she's moved onto some sort of practice between Austin Heart Hospital and Ascension-Seton 38th.  

But again, the heart issue is the big concern...the rest is just 'growing pains' (not to discount the frustrations and anxiety that may accompany that).  One of my neighbors, and father of one of my daughter's good friends is a pediatric cardiologist and I've heard him speak with other parents about Marfan (at birthday parties of all places).  He knows his shit.  Dr. Vefali (he's from Turkey but fully licensed and post-doc fellowships in Texas).  Do the regular workup your PCP recommends obviously for procedural protocol, but if Vefali is in your network, I'll get you an appointment within days, not weeks.  He does all kinda preventative care as well as corrective surgery on adolescents.  

[Prepuce of Doom 21,053]

Abraham Lincoln is thought to have had Marfan Syndrome. 

[YGIFS 19,449]

Would help explain the elongated hat.  

[Bevo 13,568]

3 hours ago, South Austin said:

The doctor who did my 13-year-old son’s camp physical this morning expressed concern that he has signs of Marfan Syndrome. He cited his long fingers that can bend backward, and how he can wrap has thumb and forefingers overlapping around his wrist, which apparently not many people can do. I then showed him that I have those same traits. The doc asks if I’ve ever had back or heart problems and I say no. He tells me that Marfan Syndrome is a problem with the body’s connective tissue, and while it’s usually not a big deal except for possible joint and back problems as you get older, it can weaken your aortic valve, which doesn’t sound awesome.

The doctor recommended that I tell my son’s PCP about this so she can decide whether to give him an EKG to see if he has any signs of a heart issue. My annual physical is in a few weeks, and I’m going to ask my doc about this.

Anyone have any experience with this?

It seems like a favorite bio topic from undergrad to medical school to dental school - besides an array of effects on the heart, you might see crowded teeth, nearsightedness, flat feet, stretch marks on the hips, and as you mentioned, long fingers and loose joints. The best place to start would be genetic testing to see if you both actually have it.

[fattyflattie 4,639]

Odd. I first leaned about it last week in a stand up comedy bit on youtube.  Looked it up after the bit and was able to use it in a joke on a text with a funky pic within a week. Simulation is real. 

[YGIFS 19,449]

I would oddly like to hear that discussion between the comic and the booking manager

"Well, I'm a mid-liner and do about 20 minutes.  Half of it is political/observational type stuff.  And then I do 10 mts. on Marfan Syndrome."

-Get the fuck out of my office.  

[South Austin 52,454]

26 minutes ago, YGIFS said:

I would oddly like to hear that discussion between the comic and the booking manager

"Well, I'm a mid-liner and do about 20 minutes.  Half of it is political/observational type stuff.  And then I do 10 mts. on Marfan Syndrome."

-Get the fuck out of my office.  

[fattyflattie 4,639]

4 hours ago, YGIFS said:

I would oddly like to hear that discussion between the comic and the booking manager

"Well, I'm a mid-liner and do about 20 minutes.  Half of it is political/observational type stuff.  And then I do 10 mts. on Marfan Syndrome."

-Get the fuck out of my office.  

I’ll see if I can find it again; it’s a “special” on YouTube. Tall brunette that looks sort of like Mr Bean (and has a joke about that too). One of her audience members asked her if she suffered from it (she didn’t know what it was) but it made for a few good jokes at her expense.  

[twosheds 374]

BU's Isaiah Austin signed up to enter the 2014 NBA draft but didn't pass the physical because it was discovered he had a mild form of Marfan's.  I think with a diagnosis and awareness of the possible physical limitations, it is a manageable syndrome.  

[royiv 9,261]

On 4/27/2024 at 3:28 PM, YGIFS said:

Okay, so it was Dr. Whetherold.  But this was like 7-8 years ago, and it appears she's moved onto some sort of practice between Austin Heart Hospital and Ascension-Seton 38th.  

But again, the heart issue is the big concern...the rest is just 'growing pains' (not to discount the frustrations and anxiety that may accompany that).  One of my neighbors, and father of one of my daughter's good friends is a pediatric cardiologist and I've heard him speak with other parents about Marfan (at birthday parties of all places).  He knows his shit.  Dr. Vefali (he's from Turkey but fully licensed and post-doc fellowships in Texas).  Do the regular workup your PCP recommends obviously for procedural protocol, but if Vefali is in your network, I'll get you an appointment within days, not weeks.  He does all kinda preventative care as well as corrective surgery on adolescents.  

FWIW, neither of the docs you mentioned are pediatric cardiologists. They may see pediatric patients, but neither is fellowship trained or board certified in pediatric cardiology. The docs at Pediatric and Congenital Cardiology Associates of Texas are all specialty trained and board certified in pediatric cardiology.

[YGIFS 19,449]

Yeah, I was just mentioning in my long-winded way that they have both assessed kids between the PCP phase and, god forbid, the surgery part if needed.  There's apparently lots of steps/doctors involved with this particular deal as with many adolescent/pediatric abnormalities.  I dunno, I just know both have assessed a lot of children  including mine and the (lack of) diagnosis was re-verified by up-the-chain doctors in this niche.  Just trying to give him a place to start.  I wouldn't think it would go from a routing sports physical to open heart surgery.  But then, our health care system baffles me.  

[royiv 9,261]

2 minutes ago, YGIFS said:

Yeah, I was just mentioning in my long-winded way that they have both assessed kids between the PCP phase and, god forbid, the surgery part if needed.  There's apparently lots of steps/doctors involved with this particular deal as with many adolescent/pediatric abnormalities.  I dunno, I just know both have assessed a lot of children  including mine and the (lack of) diagnosis was re-verified by up-the-chain doctors in this niche.  Just trying to give him a place to start.  I wouldn't think it would go from a routing sports physical to open heart surgery.  But then, our health care system baffles me.  

If it’s not your area of expertise, I would stay away from recommending physicians that don’t have fellowship training in treating kids. Austin is home to a world class group of pediatric cardiologists. That’s where anyone with a kid with a potential heart issue should start.

[YGIFS 19,449]

Never claimed it was my area of expertise.  Made a couple of suggestions/offers on some people we talked to about Marfan before even entertaining the idea of open heart surgery.  SouthAustin is smart enough to do his own research, was merely recommending them as middle steps between a PCP and heaven forbid, an actual surgeon.  Just giving background color.  He seems like a great father, he'll due his homework.  If it gets to a serious heart stage, feel free to chime in with expertise---seems like he's open to expert input.  My area of expertise is not in a lot of fields, but from dentists to plumbers to tax law , I sometimes innocuously offer up some names/businesses/firms to folks as at least a jumping off point to collect more information from people I trust so they can make a more informed decision on how best to move forward...particularly if I have personal/professional/family experiences with said professionals.  If I was actually giving SouthAustin direct orders on which cardiology procedure to proceed with at this early juncture, then yes---that'd be insane.  

[royiv 9,261]

Just now, YGIFS said:

Never claimed it was my area of expertise.  Made a couple of suggestions/offers on some people we talked to about Marfan before even entertaining the idea of open heart surgery.  SouthAustin is smart enough to do his own research, was merely recommending them as middle steps between a PCP and heaven forbid, an actual surgeon.  Just giving background color.  He seems like a great father, he'll due his homework.  If it gets to a serious heart stage, feel free to chime in with expertise---seems like he's open to expert input.  My area of expertise is not in a lot of fields, but from dentists to plumbers to tax law , I sometimes innocuously offer up some names/businesses/firms to folks as at least a jumping off point to collect more information from people I trust so they can make a more informed decision on how best to move forward...particularly if I have personal/professional/family experiences with said professionals.  If I was actually giving SouthAustin direct orders on which cardiology procedure to proceed with at this early juncture, then yes---that'd be insane.  

Dude, you are so far out over your skis on this one. Pediatric cardiologists don’t perform surgery. Pediatric cardiovascular surgeons perform surgeries. Pediatric cardiologists evaluate, diagnose and treat cardiac conditions in children adolescents and, in some cases (congenital heart conditions), adults. You’re conflating someone that does the aforementioned roles with a pediatric CV surgeon. A pediatric cardiologist IS the middle step between the pediatrician and a surgeon. Just accept that you made a bad recommendation and move on.

[YGIFS 19,449]

Got it.  make him some recommendations then, I'm sure he'd appreciate it.  

[royiv 9,261]

2 minutes ago, YGIFS said:

Got it.  make him some recommendations then, I'm sure he'd appreciate it.  

I did. The docs at Pediatric and Congenital Cardiology Associates of Texas are all top notch. I worked directly with that group for a number of years and they attract top talent. Main office is in the pavilion on Dell’s main campus and they have several satellite offices around town.

[YGIFS 19,449]

We had hoped we'd never need 'em, but the folks at that practice/Dell were fantastic with our oldest with both her heart and some leg tissue issues.  We'll be working on Sternum Excavatum (sp?) for awhile with PT.  But most other issues were ruled out, which was a relief.  Who knows what tomorrow will bring?  But from my Monday Morning QB position, it seems like pediatric care across most specialties has taken a massive leap forward in Austin the last decade or so.  I remember friends of mine with older kids driving to Houston or S.A. on the regular to get better care.  

It's crazy how life goes from worrying about your grandparent's care to your parents health to your spouse being rushed to Saint David's ER.  And then one day, your child start showing issues and precursors.  And then finally you remember to get your own personal health shit together.  But I still remember talking to this pediatric who was off-duty from Dell.  And she was explaining working in the unit/wing/whatever with kids not quire in ICU but having some serious shit going on.  And I really never thought about it like that despite having a few nurses in the family.  But that pediatric wings/practices/hospitals/etc. are a different animal because you're not just caring for the patient but managing parents from emotional messes to psychotic assholes and everybody in between.  Wasn't until we went through it that I appreciated that particular calling.  Obviously the whole field, like you described, is called to care but dealing with emotional parents is a whole other animal.  When you;re with a dying elderly relative, you retain your composure because it;s likely their time and everybody tacitly knows it's the cycle of life and you just want to provide comfort and solace.  With a kid though, you oscillate between freaking the fuck out and trying not to fall on the floor begging for a miracle.  /rant

Hopefully this works out for SouthAustin's son.  And as parents, we move on to the next thing.  And thing after that.  And then the next thing.  Thank god we live around quality caregivers.  

[royiv 9,261]

I have spent nearly my entire career in women’s and children’s healthcare and what has happened in Austin over the last decade is remarkable. Opening Dell at Mueller was a big deal, but the real game changer for Austin was Dell Medical School. The investments that Ascension has made into facilities and programs since the medical school started is nothing short of amazing. Families in Central Texas have benefitted a ton from Ascension and UT throwing a ton of money and energy toward Dell Children’s.

[UpperWestside 6,161]

On 4/28/2024 at 12:12 AM, fattyflattie said:

Odd. I first leaned about it last week in a stand up comedy bit on youtube.  Looked it up after the bit and was able to use it in a joke on a text with a funky pic within a week. Simulation is real. 

I read about this syndrome probably 20 plus years ago or so. It can cause some serious health issues and is something that seems a little difficult to have to live with. Former Baylor basketball player Isaiah Austin has it and it prevented him being able to pursue a career in the NBA.

[South Austin 52,454]

18 hours ago, royiv said:

FWIW, neither of the docs you mentioned are pediatric cardiologists. They may see pediatric patients, but neither is fellowship trained or board certified in pediatric cardiology. The docs at Pediatric and Congenital Cardiology Associates of Texas are all specialty trained and board certified in pediatric cardiology.

 

18 hours ago, YGIFS said:

Yeah, I was just mentioning in my long-winded way that they have both assessed kids between the PCP phase and, god forbid, the surgery part if needed.  There's apparently lots of steps/doctors involved with this particular deal as with many adolescent/pediatric abnormalities.  I dunno, I just know both have assessed a lot of children  including mine and the (lack of) diagnosis was re-verified by up-the-chain doctors in this niche.  Just trying to give him a place to start.  I wouldn't think it would go from a routing sports physical to open heart surgery.  But then, our health care system baffles me.  

 

18 hours ago, royiv said:

If it’s not your area of expertise, I would stay away from recommending physicians that don’t have fellowship training in treating kids. Austin is home to a world class group of pediatric cardiologists. That’s where anyone with a kid with a potential heart issue should start.

 

18 hours ago, YGIFS said:

Never claimed it was my area of expertise.  Made a couple of suggestions/offers on some people we talked to about Marfan before even entertaining the idea of open heart surgery.  SouthAustin is smart enough to do his own research, was merely recommending them as middle steps between a PCP and heaven forbid, an actual surgeon.  Just giving background color.  He seems like a great father, he'll due his homework.  If it gets to a serious heart stage, feel free to chime in with expertise---seems like he's open to expert input.  My area of expertise is not in a lot of fields, but from dentists to plumbers to tax law , I sometimes innocuously offer up some names/businesses/firms to folks as at least a jumping off point to collect more information from people I trust so they can make a more informed decision on how best to move forward...particularly if I have personal/professional/family experiences with said professionals.  If I was actually giving SouthAustin direct orders on which cardiology procedure to proceed with at this early juncture, then yes---that'd be insane.  

 

18 hours ago, royiv said:

Dude, you are so far out over your skis on this one. Pediatric cardiologists don’t perform surgery. Pediatric cardiovascular surgeons perform surgeries. Pediatric cardiologists evaluate, diagnose and treat cardiac conditions in children adolescents and, in some cases (congenital heart conditions), adults. You’re conflating someone that does the aforementioned roles with a pediatric CV surgeon. A pediatric cardiologist IS the middle step between the pediatrician and a surgeon. Just accept that you made a bad recommendation and move on.

 

18 hours ago, YGIFS said:

Got it.  make him some recommendations then, I'm sure he'd appreciate it.  

 

17 hours ago, royiv said:

I did. The docs at Pediatric and Congenital Cardiology Associates of Texas are all top notch. I worked directly with that group for a number of years and they attract top talent. Main office is in the pavilion on Dell’s main campus and they have several satellite offices around town.

Guys, guys, stop fighting.  I've booked an appointment for my son at Austin's most renowned phrenologist.  

[YGIFS 19,449]

Oh, so you know Theodoric of York, Medieval Barber?  

[dcbc 14,465]

On 4/29/2024 at 3:40 PM, UpperWestside said:

Former Baylor basketball player Isaiah Austin has it and it prevented him being able to pursue a career in the NBA.

Hear that, @South Austin?  Don't quit that law gig for the NBA.

 

But seriously, all the best to you and SA, Jr. in navigating this.

[Gil Bang 25,921]

last night on Jeopardy, there was a mention of Lincoln having Marfan.

[YGIFS 19,449]

2 hours ago, Gil Bang said:

last night on Jeopardy, there was a mention of Lincoln having Marfan.

Yes, but did you phrase your response in the form of an elongated question?  

[Jerry Callo 8,699]

3 hours ago, Gil Bang said:

last night on Jeopardy, there was a mention of Lincoln having Marfan.

Nailed it because of this thread. 

[BearSchlong 8,083]

My uncle had Marfan’s syndrome. He was a lanky 6’8” and could hit a golf ball along way.

Eventually the cardiovascular issues got him, but he loved well into his 60s.

[RexWilson 1,346]

13 minutes ago, BearSchlong said:

My uncle had Marfan’s syndrome. He was a lanky 6’8” and could hit a golf ball along way.

Eventually the cardiovascular issues got him, but he loved well into his 60s.

[closetohumping 17,435]

If there’s any consolation, Vince Vaughn has lived a long life with it:

 

 

[creeper 98]

Joey Ramone apparently had it, too.

[Armybrat 40,822]

On 4/30/2024 at 7:59 AM, YGIFS said:

Oh, so you know Theodoric of York, Medieval Barber?  

Can second that recommendation