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So many of the people I speak with who have FMD can't find a doctor to treat them. I recommend that they contact a major teaching hospital or private medical institution. I think the hardest part is figuring out what to ask once you get to these hospitals. Does anyone have any suggestions on how to choose a doctor who may be qualified to treat your rare disease when most doctors don't even know what your disease is?
Hi - As for genetics, as far as I know there is no Gene (known yet) for FMD. There are genes associated with other collagen conditions or collagen-vascular conditons so testing for those would be good to rule them in or out...
to confirm FMD - there are a few centers with concentrations of expertise. I love my MD who manages my FMD - Dr. Jeffrey Olin of Mt. Sinai NY. There is also a multidiciplinary clinic at Cleveland Clinic in Ohio. I have also heard things about Mayo (AZ, maybe Rochester MN) andU. Illinois (Chicago) and U. Michigan. There are others too.
There is a research project at NIH by Dr. Nazli McDonald (McDonnell?). She does not manage you like your own personal doctor would, but if you participate in her study she provides a lot of information and screening- and shares information with your own physicians. She also does genetic testing for the other collagen disorders that may also be present in a subset of people with FMD.
First priority is to find a doctor who believes you have a problem. Don't waste your time with those who don't- no matter how much you like them, how long you've been seeing them, how much you don't want to see another, etc... It is daunting to have to keep seeing someone new- but is worth it. There are plenty of doctors out there who will not go the extra mile. It is easier for them if you DON'T have a problem! But there are just as many, who are intrigued by the challenge of a rare diagnosis.
I almost threw in the towel when my doctor referred me to one of the largest eduational medical centers in the U.S. and I was initially rejected for an appointment! I was actually humiliated. I ended up at another large center and eventually with the correct diagnosis of Isaac's Syndrome (neuromyotonia)
Definitely, definitely, don't give up! I am on medication that has changed my life, but wouldn't be if I hadn't pursued an answer.
It can be a total gample when you try to find a doctor that will help you and really do their job. It has taken seven years to get me diagnosed. I have two things wrong with me that we know of. I diagnosed myself before doctors did... We found bloodwork showing the condition I have over three years ago. Doctors said to ignore it, meant nothing, look elsewhere.
My gut kept telling me that was the answer and I finally did some research online and had answers for what was going on with my body. It can be "hereditary" in most cases but for me we are still figuring out how I got this and if it really is hereditary. Due to not knowing a single family person/relative had my condition made it a little harder.
It took on doctor that really knew their stuff and is top in the nation, to help put us in the right direction. Don't stop looking until you are content that you have the CORRECT answers and are not just doing what you are told.
One doctor even looked at me and said i was perfectly fine while another one immediently said I needed medical help. I have found it VERY hard to get good doctors and dread going to new ones. You don't ever know how horrible they are going to treat you OR if it is going to be really great.
Get complete copies of all of your labwork, tests, etc. going back before you got sick. Get copies of everything from now on, and keep a notebook of everything. That helps doctors, and it will help you keep track of everything and even notice trends in bloodwork, etc.
If you have one really good doctor ask them for help finding a really good doctor they would send themselves or family to. That helps in finding somebody that should know their stuff and be able to help you.
Good luck and don't give up no matter how long it takes!!
I've also had better results at teaching hospitals -- the doctors seemed more open to consider the possibilities, and informed about rare diseases.
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The best resource I found was a surgeon who performed surgery to correct the same condition I had all day every day. He knew like the back of his hand every sign and symptom, and had worked out the best treatment. He also put me in contact with a internist that he worked with.
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When searching on Google, I put:
"Fibromuscular dysplasia" "vascular surgeon" ohio
and got good results...
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The Cleveland Clinic offers "Remote Medical Second Opinions":
http://www.eclevelandclinic.org/productHome.jsp?productId=standard
thank you for info. my problem periodic paralyis was diagosed by a chirapracter and he referred me to neurologist, I now need more treatment than"take your medicine and stay in bed on days of paralyis
I do not have your disease, but I would be interested in learning about it.
So, what is FMD?
A good General Practitioner who is willing to work with you and do some research is a great place to start.
If you suspect that the condition may be "running in the family", try a genetic counselor. They are trained to sort through the many issues you are finding in the family, and help direct you to the right clinician.
Other than that, start with the physician concerned most with the primary issue you are confronting, and see if that physician can help you work your way into the system.
Another approach is to put your symptoms into a good search engine on the internet and see what pops up. If you have been given any diagnoses, try those too. For von Hippel-Lindau, which includes tumors of the eye, brain, spinal cord, kidney, pancreas, and adrenal glands, we put all the various tumor names and misnomers into the data on our website so that people with any one of these names will find their way to our site.
You are right that this is a daunting job! Don't give up! It may take several tries before you find someone with the right level of curiosity and persistence to help you work your way up the decision tree and out onto the right branch. And don't feel you need to accept an answer that just doesn't feel right. Keep plugging -- you know your own body, or your child's body, better than most folks.
Good luck!
Joyce
Excellent link........ thanks for the post.
I have it saved, hoping to see them expand the mile radius above 300. Interesting project.
Thanks,
moge
If you have a diagnosis, try going to http://www.nsgc.org/. Follow the directions to find a genetic counselor in your area for whatever catagory your ailment might fit into. Call the counselor and see if they can give you some direction on who to see and they may even be able to give you a doctor's name for assistance.
You may even want to give the genetic counselor a chance even if you don't have a diagnosis. I know a number of VHL folks (my condition) that have found them to be extremely helpful.
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