Any one have one the same?

[irishlops]

Hey all Im just curious of how many people may have the same medical issues as me?
I have been diagnosed with...

• Marfans syndrom
• Raynaud's phenomenon
• moderatly severe Scoliosis (May change to more sevre as I am seeing a speciallist soon)
• Syspected dyscaulia
• undiagnosed/unexplained heart condition
• A few I cant remember.

I am just wonder if any one can help me any of them because all I have is information about them, not day to day life and coping and stuff.
Thanks

 

[degrassi]

I have Marfan syndrome but I doubt you'll find many people with it unless you join a marfan forum or marfan association since its a rare disease. Not many of us around

Your scoliosis is from having marfans, and most likely your heart problems are too since heart issues are a MAJOR problem with marfans. If your heart is "undiagnosed" I would suggest getting is checked out asap by a cardiologist that is marfans knowledgable or a connective tissue clinic(marfan clinic). The longer you leave your heart undiangosed the worse it can be with marfans. Early diagnosis is key to managing marfan related heart problems! Luckily there are now medications to help keep your aortic root from growing(google Losartan trials) and ask your cardiologist about being put on losartan or another better ARB. This is VERY important if you have marfans but most cardiologists dont' know enough about it to help you. Find a marfan knowledgeable cardio!

Feel free to ask me anything Marfan related. Most of the medical community wont' be much help with answering your questions since most doctors dont' even know about it or only know what they read about it back in medical school(way outdate info!)

 

[irishlops]

degrassi wrote:

I have Marfan syndrome but I doubt you'll find many people with it unless you join a marfan forum or marfan association since its a rare disease. Not many of us around

Your scoliosis is from having marfans, and most likely your heart problems are too since heart issues are a MAJOR problem with marfans. If your heart is "undiagnosed" I would suggest getting is checked out asap by a cardiologist that is marfans knowledgable or a connective tissue clinic(marfan clinic). The longer you leave your heart undiangosed the worse it can be with marfans. Early diagnosis is key to managing marfan related heart problems! Luckily there are now medications to help keep your aortic root from growing(google Losartan trials) and ask your cardiologist about being put on losartan or another better ARB. This is VERY important if you have marfans but most cardiologists dont' know enough about it to help you. Find a marfan knowledgeable cardio!

Feel free to ask me anything Marfan related. Most of the medical community wont' be much help with answering your questions since most doctors dont' even know about it or only know what they read about it back in medical school(way outdate info!)

Yay, I am part of a select few :biggrin2:

I have been seeing a cardiologist ever since I have been born, and he is ment to be refering me to see some one to do with marfans and the heart. I am STILL waiting for a appioment to see the genetics doctor...

I am curious as to how, if it does affect normal daily life?

Ill take up that idea of a marfans fourm as well.

 

[degrassi]

I am curious as to how, if it does affect normal daily life?

It affects each person differently. It depends how badly affected you are. Some people go their whole lives without much problems but some get very sick when they are young. There are lots of athletes that have marfans and don't know it until they suddenly die suddenly on the court (like Flo Hyman). Or more commonly people drop dead suddenly(of an aortic dissection) and they dont' find out they have marfans until then.

In my case I was pretty much healthy until I was 14. I was super tall and skinny but didn't have many symptoms that affected my life up until then. When I turned 14 I started having back pain and headaches and was diagnosed with Dural ectasia(problem with my spinal fluid sac in my back, a big marfan problem). After that I had to have surgeries and ended up being homeschooled from grade 8-12 as I was too sick to attend. When I was a teenager my aorta also started to enlarge(the biggest marfan issue) but I have that under control now with the new medications and its not growing anymore. Thank god as I definitely dont' want to have aortic surgery!

So marfans is definitely serious and you need to be monitored atleast yearly with echocardiograms to watch your aorta size.

I'd suggest contacting this marfan clinic in Ireland. You definitely need to see a marfan specialist, not just a regular cardiologist. They are your best bet for proper treatment. http://www.marfansresearchfoundation.ie/

 

[RandomWiktor]

Have you ever been to butyoudontlooksick.com? They have a support forum for folks with rare/ambiguous medical problems with a lot of good tips on day to day coping. Not to mention you can talk to people who actually understand when you're having a difficult day with your symptoms. Could be worth looking into!

 

[irishlops]

RandomWiktor wrote:

Have you ever been to butyoudontlooksick.com? They have a support forum for folks with rare/ambiguous medical problems with a lot of good tips on day to day coping. Not to mention you can talk to people who actually understand when you're having a difficult day with your symptoms. Could be worth looking into!

Nope, But I am going to.
Thank you for the link.

 

[irishlops]

degrassi wrote:

I am curious as to how, if it does affect normal daily life?

It affects each person differently. It depends how badly affected you are. Some people go their whole lives without much problems but some get very sick when they are young. There are lots of athletes that have marfans and don't know it until they suddenly die suddenly on the court (like Flo Hyman). Or more commonly people drop dead suddenly(of an aortic dissection) and they dont' find out they have marfans until then.

In my case I was pretty much healthy until I was 14. I was super tall and skinny but didn't have many symptoms that affected my life up until then. When I turned 14 I started having back pain and headaches and was diagnosed with Dural ectasia(problem with my spinal fluid sac in my back, a big marfan problem). After that I had to have surgeries and ended up being homeschooled from grade 8-12 as I was too sick to attend. When I was a teenager my aorta also started to enlarge(the biggest marfan issue) but I have that under control now with the new medications and its not growing anymore. Thank god as I definitely dont' want to have aortic surgery!

So marfans is definitely serious and you need to be monitored atleast yearly with echocardiograms to watch your aorta size.

I'd suggest contacting this marfan clinic in Ireland. You definitely need to see a marfan specialist, not just a regular cardiologist. They are your best bet for proper treatment. http://www.marfansresearchfoundation.ie/

Eygh! I hope your feeling better nowurplepansy:
I am seeing that normal cardiogist "quite" soon, when I do I will ask him about that site/ the doctors/other specialist etc.
Thank fully I am not affect alot at the moment

 

[pOker]

I have severe scoliosis..It has gotten worse over the past 2 years or so from heavy lifting, constantly holding the baby, things like that..

I am supposed to be getting a back brace, but I really dont want to do that-even though it wil fix the issue a bit..I have had surgery done once that improved my scoliosis, but it went worse months later.

My scoliosis has lots of effects on my daily life--
I cant do gym in school
I am often bedridden and cant even go to school
I cant get most jobs that I want because of heavy lifting

Just walking gives me alot of stress, and I usually start to feel pressure on my lower back..

 

[degrassi]

Eygh! I hope your feeling better nowurplepansy: I am seeing that normal cardiogist "quite" soon, when I do I will ask him about that site/ the doctors/other specialist etc. Thank fully I am not affect alot at the moment

I'm not really good but a bit better. I"m still unable to hold a regular job or go to school so I'm on AISH(a type of disability income). Unfortunately marfans isn't something they can fix so i'm going to be stuck with headaches, pain and stuff. Last week I started attending a pain clinic so hopefully that helps.

I would definitely ask your cardio for a referral to the marfan clinic. Also if you haven't already, get him to do an echocardiogram or CT of your aorta. Make sure you see the results and get the actual measurements of your aorta from him. Don't just let him tell you "its normal" or "it looks fine". You need to know your actual measurements. You need to start a baseline and have a follow up each year to see if its growing.

 

[irishlops]

pOker wrote:

I have severe scoliosis..It has gotten worse over the past 2 years or so from heavy lifting, constantly holding the baby, things like that..

I am supposed to be getting a back brace, but I really dont want to do that-even though it wil fix the issue a bit..I have had surgery done once that improved my scoliosis, but it went worse months later.

My scoliosis has lots of effects on my daily life--
I cant do gym in school
I am often bedridden and cant even go to school
I cant get most jobs that I want because of heavy lifting

Just walking gives me alot of stress, and I usually start to feel pressure on my lower back..

I hope mine is not that bad. The x ray showed sevre scolious and I am going to the doctor on the 3rd of march. I cant do gym/pe because of my heart already.
Does the operation not help in alot of cases?
I have been feeling pressure on my lower back anyway of helping it?

 

[irishlops]

degrassi wrote:

Eygh! I hope your feeling better nowurplepansy: I am seeing that normal cardiogist "quite" soon, when I do I will ask him about that site/ the doctors/other specialist etc. Thank fully I am not affect alot at the moment

I'm not really good but a bit better. I"m still unable to hold a regular job or go to school so I'm on AISH(a type of disability income). Unfortunately marfans isn't something they can fix so i'm going to be stuck with headaches, pain and stuff. Last week I started attending a pain clinic so hopefully that helps.

I would definitely ask your cardio for a referral to the marfan clinic. Also if you haven't already, get him to do an echocardiogram or CT of your aorta. Make sure you see the results and get the actual measurements of your aorta from him. Don't just let him tell you "its normal" or "it looks fine". You need to know your actual measurements. You need to start a baseline and have a follow up each year to see if its growing.

I will, I have wrote it in my notebook I bring with me every where. I have had a few ECGs before, never a CT though on the aorta, I will definity ask though. Ill reply in more detail and stuff to everyones post tomorrow, homework calls...

 

[degrassi]

I have been feeling pressure on my lower back anyway of helping it?

You might also want to ask your doctor about Dural ectasia. DE causes low back pain and is quite common in people with marfans. My first symptoms of DE was pain in my lower backand tailbone area with a dull achy pressure feeling.

I have had a few ECGs before, never a CT though on the aorta, I will definity ask though.

You definitely need to ask for an Echocardiogram. A ECG(electrocardiogram) can't detect or measure aorta growth. I"m actually surprised they haven't given you one yet if they suspect marfans. Usually thats the first step, the most important step! Esepecially if you have shown heart symptoms.

 

[irishlops]

degrassi wrote:

I have been feeling pressure on my lower back anyway of helping it?

You might also want to ask your doctor about Dural ectasia. DE causes low back pain and is quite common in people with marfans. My first symptoms of DE was pain in my lower backand tailbone area with a dull achy pressure feeling.

I have had a few ECGs before, never a CT though on the aorta, I will definity ask though.

You definitely need to ask for an Echocardiogram. A ECG(electrocardiogram) can't detect or measure aorta growth. I"m actually surprised they haven't given you one yet if they suspect marfans. Usually thats the first step, the most important step! Esepecially if you have shown heart symptoms.

I will ask him about the dural ectasia.
Mhhh, I wonder why they have not... I have a heart moniter implant, would that hamper it in anyway for the echocardiagram?

 

[degrassi]

Mhhh, I wonder why they have not... I have a heart moniter implant, would that hamper it in anyway for the echocardiagram?

I don't know if a moniter implant can affect the results. I'm surprised they did any type of heart surgery without making sure your heart is ok in a marfan sense(no enlarged aorta).

This is why its so important to find a good marfan knowledgable cardiologist. Not every cardio is qualified to deal with marfans.

I would call your current cardiologist now and ask for a referral to that marfan clinic. The sooner the better, as there is probably a few months wait after the referral to get in. Its super important to get a proper diagnosis and find proper marfans doctors before you move ahead with anymore treatments.