Thursday, July 16, 2009

Mystery diagnosis episode about Trimethylaminuria featuring Cheryl Marshall and Dr Paul Fennessey

Someone has kindly uploaded the recent Mystery Diagnosis case about trimethylaminuria featuring Cheryl Marshall, who founded the NORD Trimethylaminuria Fund. It cannot be understated how grateful we are to Cheryl for bravely appearing on national TV, and for the person who uploaded it to youtube for enabling worldwide viewing of the episode. Thank you both very much.







Cheryl Marshalls fundraising site for the NORD TMAU Fund
About the NORD Trimethylaminuria Fund :

NORD (National Organization for Rare Disorders, Inc.) is a U.S. national charity that was formed in 1983 by the individuals and organizations who supported the Orphan Drug Act, an important piece of legislation that provides incentives to encourage the development of new treatments for rare disorders. A TMAU sufferer, Cheryl Marshall, set up the TMAU fund. The purpose of the fund is to collect donations that will be used solely towards research into TMAU. When the balance of the fund reaches $35,000 tax deductible contributions, the process of issuing a Request for Research Proposals from research scientists or investigators in the field of TMAU can begin; thus triggering further funding from NIH to set in motion an 'official' research. It is possible to donate online.

NORD provides accurate, reliable information and is a strong voice in advocating for needed research and improved treatments. Every month NORD provides a running list of the funds along with the total amount donated in their UPDATE newsletter.


related links:
see all youtube videos uploaded by Lillyput2




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Regular FREE (long distance call plan) General and Women-only Phone Conferences

USA : (712) 432 1620
access code : 391629#
NON USA : add 001 prefix
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Note: can also be used anytime for unscheduled group chats

Free USA-based phone conferences (if you have a long distance call plan. Otherwise you will be charged as a long-distance call)

For USA-based : (712) 432 1620 then type the access code on your phone keypad: 391629#
Non USA : prefix above with 001 but check to see if it is free with your supplier


Record number of callers : 70+
If privacy is a concern, code your phone to PRIVATE mode
This phoneline can be used anytime to talk to other sufferers
You don't need to talk. You can just listen

Meet-up/Support group contacts

UK : Arun Nagrath: arunnagrath@hotmail.com
Miami : Maria: mpdela1@gmail.com

Action plans

Write an essay on your odor problem for Richards anthology project
contact your Senator about blood-borne BO/halitosis
write to 'the Doctors' TV show
contact the DrHoffman show on WOR710
tell the Office of Rare Diseases about your problem
try the asparagus urine test
Fecal Body Odor Volunteer for media appearances ?
Politicians ?
Ask an expert if they will put up a Q&A section on their websites like Emory have

suggestions

Thinktank

Bluesky ideas to promote thought:

PTC124(Ataluren, or similar) for primary TMAU due to nonsense mutations
Genetically modified probiotics enriched with FMO3 ?
Trimethylamine strip test paper for daily urine testing? (possibly used in the fish industry ?)
BO&Halitosis research center
BO&Halitosis research fund
Can FMO enzyme be induced in a helpful manner ?
Ask an expert if they will put up a Q&A section on their websites like Emory have
BO&Halitosis 'rehab' retreat (?)
TMAU cookbook/advice book
Employ an expert to do the most thorough choline list
Employ Body odor/halitosis expert(s) (?)
Encourage breath-analysis manufacturers to make portable handy analyzers for metabolic odor problems
TMA urine dipstick test
Is trimethylamine an FMO3 inhibitor ?
Campaign : add TMAU to the newborn screening program
Orphan drug program

Send in your ideas or post them on the forums: Contact experts