Marfan syndrome | Imamother

happyone

Mon, Jan 06 2020, 12:12 am

I'm not sure why your PA is throwing a diagnosis without further testing. cardiac testing will need to include an EKG and full echocardiogram (ultrasound of the heart) to rule out heart disease. a geneticist with check for all features associated with Marfans and or any other condition, and take labs for genetic testing.
my friend has a son with Marfans hes a lovely young adult and doing very well.
they go for yearly echocardiograms to monitor his heart which so far bh didn't need intervention . he never had behavioral issues, some learning difficult but in regular ed.
before you wear yourself thin, wait to hear what the geneticist has to say.
good luck!

FranticFrummie

Mon, Jan 06 2020, 10:25 am

OP, I can understand that you don't want to scare yourself with Dr. Google, but now you are scaring yourself with things you don't know about. Either way is not so good.

I suggest you do a little bit of research so that you are a bit more educated, and can calm yourself. Remind yourself that it may or may not be Marfan, and it may or may not be serious if it is.

Also DAVEN, and you never know what Hashem has in mind for your child. Whatever it is, it's from shamayim.

I've been through the mill with DD, so I know how you feel. At first it was autism maybe, and then William's Syndrome, and then Fragile X. We never got a definitive diagnosis, but the geneticist said she'd bet the farm on a mild case of Fragile X.

The only thing this means for DD, is that she'd have to do embryo selection if she wanted to have kids. She has her heart set on adopting or fostering, so we never did the final test. She can always get it if she changes her mind.

Stay strong, because if he feels that you are freaking out, he'll start to get worried, too. G-d willing, whatever your DS is dealing with, it should be mild, manageable, and he should have a wonderful quality of life.

amother

Peach

Mon, Jan 06 2020, 12:08 pm

OP, can I ask if you're in Lakewood? There's a PA here who fancies himself a doctor and many, many people go to him instead of an actual doctor. And he's the type to throw a rare diagnosis at people like this. (Not saying it's not Marfan, but there are many other things it could be...) A PA is not a replacement for a doctor.

I actually know someone who has a fairly severe case of Marfan, and she is married and living a very full life b"H. She does have complications, but you would have most likely already encountered the issues that she has if your child had it.

Good luck, and stay calm! There's also a great genetics department at CHOP. Ask your doctor or ECHO who they recommend.

amother

Pearl

Mon, Jan 06 2020, 12:33 pm

amother [ Peach ] wrote:

I also read the orignal post and was thinking did I just read pa or is pa short for pediatrician?!? I would NOT trust a pa with this type of diagnosis at all. Its even a bit weird for him to scare u like that!!

Chayalle

Mon, Jan 06 2020, 1:38 pm

amother [ Peach ] wrote:

I'm curious which PA this is.

OP did not say a PA diagnosed her son with anything - just that he's encouraging her to follow up on something he suspects.

If I took my child to a PA, and the PA saw something that warrants follow-up, I would definitely want the PA to tell me that.

In many of Lakewood pediatric offices, PA's are doing well-visits, etc...so it seems the doctors in town definitely consider PA's to be competent substitutes for themselves....(a rather sorry situation. I had a recent experience where after hours on the phone, I could not get my ill child into her own doctor over the weekend - not even a PA.)

amother

Peach

Mon, Jan 06 2020, 1:42 pm

Chayalle wrote:

We must use the same pediatrician. I've been there for many years and I hate the situation there now.

As for this PA, I do not want to put his name here, but he sees people outside of the doctor's office. If a PA in my doctor's office suspected something, I'd immediately ask them to consult with the doctor. (And I have done that. There are many excellent PAs who I trust, but by definition, they are the physician's ASSISTANT and I would like them to consult with the doctor in serious cases.)

I have a friend who's a PA and also sees people privately, but I would absolutely ask her to discuss these concerns with a doctor. The doctor is more qualified.

amother

Periwinkle

Mon, Jan 06 2020, 2:24 pm

Happyone wrote:
I'm not sure why your PA is throwing a diagnosis without further testing.

So I'm pointing out that referring for further testing is not "throwing a diagnosis." Op wrote that he suspects Marfan, not that the pa diagnosed it. That would be beyond his scope and I'm sure he realizes that, which is why he's explaining his suspicion and referring to an appropriate specialist. It would be much worse for a pa (or any doctor) to ignore suspicions and hope for the best. He's being responsible in referring, not arrogant. I can't understand why people are suspicious about this. If it is Marfan, it's imperative for his health to be monitored as needed.

amother

Mon, Jan 06 2020, 4:33 pm

FranticFrummie wrote:

Amen! Thank you so much for this, your post brought tears to my eyes. At one point my DC was diagnosed with ADHD and then it turned out that It was a wrong diagnosis.

You know when you want the best for your child and you run from one doctor to the next knowing that something is but not really sure what it is and you spent thousands of dollars on them. Everything you try you believe that that will help this will help, DC is such a bright smart kid, your heart goes out to them.
We've tried OT, PT, speech therapy, natural alternatives, took him for testing, and then you get that it might be this I just don't know how much more we can take. I have so much things going on in my life right now maybe I'm just taking it hard because of that.

amother

Mon, Jan 06 2020, 5:00 pm

amother [ Peach ] wrote:

No I'm not in Lakewood. Until now we used PA which is better than any MD out there, he is a fantastic fantastic doctor and a great diagnosis. He recently moved and opened an office in a different location. A different PA which was there before as well however never used because I didn't really trust him is still there and here's the one that saw my dc yesterday.