Fibromuscular Dysplasia (of the brain) and MC

Sharaine · Post by **Sharaine** » Sat Sep 03, 2011 8:06 pm

Well, it's been an interesting week, to say the least! The headache that started last Saturday, a week ago, continues to plague me. The intensity varies. When it didn't respond to Tylenol Extra Strength, coffee, water (LOTS), Gatorade, showers, or sleep, I finally got an appointment with my GP. She was very thorough and sent me for a CT Scan. Turns out I have Fibromuscular Dysplasia (FMD) at the C-1 vertebra level in my brain. Scary stuff! I'm seeing a neurologist on Thursday, September 8th.

In researching FMD tonight, I found this interesting tidbit: In case reports, FMD has been associated with mutations in collagen[17] , with cutis laxa[18] , and with alpha1-antitrypsin deficiency[19] (from http://emedicine.medscape.com/article/1 ... view#a0104).

What caught my attention was, of course, the "mutations in collagen." Does this associate with Collagenous Colitis?

It's fascinating that FMD is typically seen in the renal and coronary systems, and is extremely rare in the brain. I'm rather tired of having these rare diseases.

So my question is, is there anyone out there in our Internet family with MC/CC who also has FMD?

If you are the praying type, I'd appreciate your prayers. The thought of ANYTHING wrong with my brain troubles me immensely.

Thanks,
Sharaine

nancyl · Post by **nancyl** » Sat Sep 03, 2011 8:29 pm

Sharaine,
I'm so sorry about your recent diagnosis. I know nothing about FMD so cannot help you. But, will of course be praying for you.

Please keep us posted.

Hugs,
Nancy

Post by **tex** » Sat Sep 03, 2011 11:22 pm

Hi Sharaine,

I'm very sorry to hear about that diagnosis, and I've never heard of that issue before, either.

Looking at the reference for the "mutations in collagen" connection, I have no idea whether or not it might be associated with CC. Theoretically, (by the official medical description), it can't be, of course, but we all know that it's possible for this disease to affect virtually any organ in the body, so who knows?

Good luck with the appointment.

Tex

mbeezie · Post by **mbeezie** » Sun Sep 04, 2011 5:12 am

Sharaine,

I'm sorry to hear that now you are dealing with yet another problem. Have you thought about getting a second opinion? I always think that's wise, especially when something sounds serious like this. Most recently Polly's brother was given a very bad prognosis for pancreatic cancer and saw another doctor who had a different opinion.

Praying for you.

Love,

Mary Beth

sarkin · Post by **sarkin** » Sun Sep 04, 2011 9:12 am

Wow, Sharaine, and good for you for pushing for an answer. I tend to sit around and grit my teeth, but sometimes toughing it out isn't the smartest move...

Hope you're feeling better and getting some optimism - and maybe it's one of those 'rare' things that's also likely to respond to an overall reduction in inflammation, which you should be able to make happen as you get your diet figured out. Fingers crossed that you get some help and relief,

Sara

Sharaine · Post by **Sharaine** » Sun Sep 04, 2011 8:30 pm

Dear Nancy, Tex, Mary Beth and Sara,

Thank you for your kind words and prayers. When I see this neurologist on Thursday, I will get a more definitive diagnosis and his proposed treatment plan. It is highly likely I will get two opinions regardless of what the neurologist says on Thursday. From what I've read, the treatment involves brain surgery and implanting stents. Again, that's only from my research and until this doctor actually looks at my CT scans from April and last week, there's little I can do except pray and keep a positive outlook.

We're in the mountains for the weekend at another art fair selling my husband's photography. My headache comes and goes, but has not been as bad as it was last week.

I'm definitely going to be looking at ways to get off the Entocort, but am going to need to be cognizant of my trips to NYC, Louisville and LA in October. Traveling with regular trips to the bathroom every hour with D just won't work.

Again, thank you for your thoughts and prayers. I will keep you posted.

Hugs,
Sharaine

Gloria · Post by **Gloria** » Sun Sep 04, 2011 9:14 pm

Sharaine,

This sounds pretty serious. I hope you don't need surgery.

I had a scare about a year and a half ago when an MRI revealed a tumor next to my brain stem. The neurologist immediately began discussing surgery. I asked him for a referral for a second opinion and saw a much more experienced neurologist. He immediately suspected that the tumor was calcified when he saw the MRI. A CAT scan showed his suspicion to be true. I had a followup MRI which showed no changes, so I'm feeling pretty confident that it's nothing to worry about. Until I spoke to the second neurologist, I was pretty nervous and concerned.

I hope a second opinion gives you a better diagnosis, or at least some reassurances that the surgery isn't complicated.

Gloria

Gayle · Post by **Gayle** » Mon Sep 05, 2011 9:42 am

Sharaine,

“Interesting …. to say the least”

sounds like something of an understatement. Rare diseases are not fun, life is just so much less complicated when we have the more ordinary and readily diagnosed maladies. But try to keep the faith, at least until you speak with the Neuro. You may find that this is not at all a rare condition.

Your question:

What caught my attention was, of course, the "mutations in collagen." Does this associate with Collagenous Colitis?

sounds like a logical question to me, which may (and may not) have an answer. I would put that right on my list of questions for the Neuro. Hopefully there will be something of an answer to this question, which you will then be able to report back to the PP.

I second the previous posts here regarding considering a second opinion … and depending on what on what you hear from the Neurologist this week, you may want to look further about. There are some centers in the USA which carry the designation of “Center of Neurological Excellence”. In the event that you feel the need to pursue this further, you might want to do some research in that direction?

BTW, I think I might be hearing you saying that you’ve been told that the CC is a rare condition??? Is that correct? In reality, and unfortunately, the term “rare” does not fit MC any longer. As you can see here on the PP group, there are a great number of affecteds here, and many more (perhaps most) are ‘out there’. Wish I could lay my hands on study done at Mayo/Rochester a few years ago which showed the incidence of MC in Olmstead County, Minnesota to be near to, or equal to, the incidence of Crohn’s disease (and they thought MC was gaining).

With Best wishes and thoughts for Thursday,

Gayle

onekidneygal · Post by **onekidneygal** » Mon Sep 05, 2011 10:49 am

Hello,

I am new to this group and do not have this groups disease, but really wanted to respond to you so registered. Hope you all don't mind. I do have fibromusuclar dysplasia and wanted to respond to that.
There is lots of support for those diagnosed and the best place to get the most up to date and reliable information in FMDSA.org. This organization is aligned with the most informed physians and is recognized as the leader in research and awareness. There is also a wonderful FB page to get information as well.
You can read my story with famed under patient stories on the FMDSA.ORG website.
There is an article by Dr. Jeffrey Olin in the Wall street journal, he and the experts in the field believe famed is not rare and could be as common as breast cancer. So there is a lot of interest in this disease and many interested parties working on research etc.
Monitoring of FMD is key to good health. So finding the right doc is important. You can check FMDSA for doctors in your area. I am 54 years old and was diagnosed at 39. I am happy to say I am doing great and plan on ticking for quite a while longer.
PLease feel free to contact me by clicking on the "email" button at the bottom of this post if you need a friend. Also there are some great videos, and articles on the FMDSA.ORG website. Make sure to join as a member, as the more registered members , the more the medical community takes notice!
Take care and hope to hear from you. Mimi (Fine Mighty and Dynamic Soul) FMD'ers!

JLH · Post by **JLH** » Mon Sep 05, 2011 10:50 am

I'm very sorry to hear that news. I certainly will be praying for you.

HUGS.

JLH · Post by **JLH** » Mon Sep 05, 2011 10:53 am

How did you find us? You are an answer to our prayers!

JLH · Post by **JLH** » Mon Sep 05, 2011 10:55 am

Could this be an 0603 thing? I looked for a gene test for Sharaine but didn't see one.........

Post by **tex** » Mon Sep 05, 2011 11:23 am

Hi Mimi,

Thank you very much for registering and offering that information. We definitely appreciate your kindness, and your generosity in sharing your knowledge, especially about a topic that we know so very little about.

I hope you don't mind, but I edited your post, to prevent the spam bots that roam the internet from "harvesting" your e-mail address to sell to spammers. You won't be able to see the personal information links at the bottom of your posts, until you have written at least 5 posts, but every member who is logged in, and has written at least 5 posts can see them, and respond to them. They are invisible to the spam bots, or anyone else surfing the internet looking for personal information to collect.

Welcome to our internet family, and again, thanks for sharing your knowledge and insight. :yourock:

Tex

Gabby · Post by **Gabby** » Mon Sep 05, 2011 11:54 am

I second that Tex...Mimi rocks for reaching out to Sharaine.

Thank goodness for the internet. Time and time again it has helped people connect and discover. How did we ever get along without it?

Sharaine, I'm wishing you well and will include you in my prayers. Please keep us posted.

onekidneygal · Post by **onekidneygal** » Mon Sep 05, 2011 12:09 pm

Hi All and thank you for your warm Replys. I found Sharaine's post as I have a google alert for Fibromusuclar Dysplasia. I am a volunteer for the organization and try to keep my eyes out for patients needing support.
I think someone asked about the gene factor re FMD? Your group is so dang sophisticated I will need to get used to it. Anyway, there are registries around the country right now and the search is on for answers. There is no gene yet identified. But some thoughts at this juncture is that FMD is a connective tissue disease and may overlap with a few other diseases such as Ehlers Danos and Marfans. This is not yet proven yet. But the registries are really proving to be a valuable resource!
Now, it is my turn to learn a bit more about the diseases represented on this forum!

Thank you all again for welcome. May be off line for a bit as going to see my son for a day!

Take care! Mimi :}