Happy Monday! Contacted NORD for info/help?

[Tamaretta]

Today I contacted (via email) the National institute for Rare Disorders (NORD) and the National Institute of Neurological Disorders and Stroke (NINDS) re: spontaneous CSF leaks and how to get the disorder listed on their websites. (I couldn't find it..Marfans was listed but not multiple/spontaneous CSF leaks)

For instance, perhaps we could work to wipe out the widely accepted erroneous theory of "no brain sag = no leaks", or the "at least it's nothing serious" discussion, or "these leaks ALWAYS resolve by themselves" or my personal favorite "perhaps the mom is depressed and transferring symptoms to the poor daughter"...I calmly informed that man( I refuse to call him a dr.) that in fact, I was feeling more HOMICIDAL not suicidal--and the only people in danger from me were condescending, arrogant a$$%*holes that wouldn't take my daughter's symptoms seriously! I am sure you guys have many more theories/stories to add to the list.

Anyway, I will let you know the outcome as soon as I hear from them....perhaps with more/better/correct information for the medical profession, other patients might stand a chance for a (correct) diagnosis (and maybe some awareness and funding for research wouldn't hurt either....)

[eman]

You go Tamaretta!! If I can stop feeling sorry for myself, I'd like to start building a web page/forum/chat for CSF leakers. We need a central site, and a developing support group.

Funny what you said about the moron doctors. A really cool doc who gave me a blood patch was amazed at my story. He started asking Spine docs around town for help for me. One of the spinal docs told my doc that he knew tons about CSF leaks, and there were non invasive tests I could try. It sounded like crap to me, but I went to see him anyway. Turns out the guy was a total moron, knew nothing about CSF leaks. Offered me muscle relaxers for my headache. I wanted to choke the guy and threw him against the wall. After reading my diagnosis of "persistant CSF leak" he asked if I'd had a real headache evaluation. My diagnosis was given by the authority on leaks, and this idiot is questioning whether I have a leak? I could murder this man, and feel no remorse.

He basically stole from me and my insurance company by accepting that referal after being told specifically what was wrong with me. Some of these guys are white coat criminals. If there is a hell, I'm sure this man will be there.

Keep us updated on NORD. Sorry for the rant.

eman

[Tamaretta]

Never apologize for ranting!!!! Somedays it's the only thing that keeps me sane...even if it's only the spoiled pomerian that's listening! I received a reply from the NORD (posted below) and forwarded it to Tay's neuro...we will see where it leads. Have a great evening.

Dear Tamara:
It doesn't take too much to get a disorder listed among those in NORD's databank. We would however need the cooperation of the physician (neurologist or neurosurgeon?) who finally came up with the diagnosis of your daughter's problem. Six years for a diagnosis is too long!

Would you permit NORD to contact your physician and ask for her/his help in preparing a NORD Report on this disorder. With your permission I would write seeking his help in developing a first draft. When the doctor has completed that, one of our medical writers would take that draft and rewrite it inot non-medicalese language; that is language that the patient and family can understand.

I do hope that you will help in this process. We have limited resources and any help we can get makes it easier to get a Report posted on the internet in a shorter period of time.

Looking forward to hearing from you.

Edward S. Gruson
Medical Editor
National Organization for Rare Disorders
55 Kenosia Avenue
PO Box 1968
Danbury, CT 06813-1968
Phone: 203.744.0100
Fax: 203.798.2291
http://www.rarediseases.org

egruson@rarediseases.org

[guineapig]

oh more power to us, ehhh. i just contacted the National Institute of Health Office of Rare Diseases (http://rarediseases.info.nih.gov) and made the same request. it also has welcomed suggestions for additions of conditions.
hmmm, that mantra "knowledge is power". nahhh, being pain free is power.

mmmmm, on stories, stories.... well, "if you didn't have a headache within 5 minutes, 24 hours or 7 days, then it wasn't a traumatic leak". a theory so bad, it isn't even wrong. another one, "you don't have a csf leak." or a personal favorite from a pain management dr: "get some help". oh, God bless them, or in the famous words of the character of charlton heston in planet of the apes and my favorite line appropriate of so many drs:"damn them. damn them all to hell!"
happy day :)

[Tamaretta]

That's soooo funny because two years ago, my daughter had a doctor tell her that NO headache could be 24/7...at some point it HAD to get better!!!! EEEK! I am also contacting "Mystery Diagnosis" and see if they will feature this condition. I may need help/input/stories from all of you if they accept. (Sort of a compilation story???) Will keep you updated.

[LauraL840]

That's soooo funny because two years ago, my daughter had a doctor tell her that NO headache could be 24/7


Well now, that's funny because my husband reports he's headache free .... when he's freakin' asleep and it doesn't wake him up!

:eek: :rolleyes: :eek: :rolleyes: :D

Weary Wife

[guineapig]

The response from National Institute of Health Office of Rare Diseases at request to add csf leak to their list of, rare diseases: "Therefore we will add the term." Who would have thought it! no crap, no waiting (less than 24 hours after i emailed, if i am still counting right), no bureaucracy. oh joy!
posted the response below.
guineapig



Dear Mr. Etler: Thank you very much for your thoughtful note to our office. We reviewed the literature and while there is a high incidence for CSF because of blunt or penetrating trauma; postoperative sequela of a dural tear or incision; lumbar puncture; inadvertent meningeal puncture during epidural anesthesia; spontaneous leakage from 1 or more spinal nerve root sleeves; during excessive weight lifting; etc.

there is a low prevalence, since most cases get treated or resolve spontaneously. 50-85% percent of traumatic CSF leaks resolve spontaneously within 7 days, and almost all leaks cease within 6 months.

Our definition of a rare disease is a prevalence of fewer than 200,000 persons in the US. Therefore we will add the term.

You might be interested in taking a look at the following links unless you have already done so:

1. Clinical Trial:

http://clinicaltrials.gov/ct/show/NCT00444067;jsessionid=92F79AF61A07E3AAA70D7CF4203 04FA9?order=2

2. Medlineplus

http://www.nlm.nih.gov/medlineplus/ency/article/001068.htm

http://www.nlm.nih.gov/medlineplus/ency/imagepages/9240.htm

Thank you again for your suggestion.

Best regards,
Henrietta Hyatt-Knorr
Director, Policy and Program Planning and Analysis
Office of Rare Diseases, NIH
6100 Executive Boulevard, 3B01
Bethesda, MD 20892-7518