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Postby malory » Sat Jun 11, 2011 12:39 pm

Thanks to all your efforts, Ruth Palmer at the Royal College Of General Practitioners has shown some willingness to raise awareness of TMAU1 amongst GPs, although the RCGP haven’t specified when it will happen, of course (see her response below).
Thanks Ellie (aka ‘gorgeous legs’) for your advice regarding lobbying MPs and the social model of disability. It was a real pleasure to meet your feisty self at long last. Your spirit is inspiring!

I feel it is a very positive thing we are trying to do; by pooling our positive energy I hope we can make a difference for those people who are suffering in isolation, for those whose doctors are sending them to psychiatrists and for those who are unaware of the existence of this website. By breaking down the taboo about odour (the cause of the odour is irrelevant) things can change. If there is no dialogue about odour-producing conditions then things cannot move on. All those people who have been brave enough to be featured by the media have done so much to open up this much-needed dialogue. Thank you! People who have established websites and support networks have done so much for us. Thank you! Now we all need to make an effort to give something back.

I go to Jivamukti Yoga where we dedicate each practice session to any person or group of people who need positive energy. It’s a really powerful practice ‘cause you contribute something positive (prana, spiritual energy or whatever you choose to believe) to somebody else and this deflects from the self. I see this ‘campaign to smash odour taboos and raise awareness’ in this light. Our efforts may not help us directly (especially us over 40s) but we may help people in the future (teenagers even) whose doctors have become more informed about odour conditions. Eventually, conditions such as TMAU may even be researched more fully. Whenever I tell ‘happily normal’ people about my condition, I feel I have done something positive. I told my yoga teachers that I didn’t join in the chanting in class because of my breath odour and briefly told them about TMAU. They were quite fascinated and it was a relief. We pave the way for those who come after us when we ‘come out’ I believe.

To arrive on Monday 4th July
I would like everyone to e-mail/write to their local MP asking them to pressurise the following medical organisations into taking malodorous conditions such as TMAU seriously.
On the same day, I would like you also to e-mail the list of MPs below with the same request. I will e-mail the testimonials that some of you sent to me and also post hard copies of them.

According to the social model of disability, ‘people who have an impairment and experience some form of social exclusion as a result are disabled people. Many people have impairments, such as those who use glasses. They are not usually discriminated against. Disabled people includes people with: chronic illness or health issues… people with hidden impairments. The Disability Discrimination Act of 1995 is rights-based and draws on social model thinking which requires establishments to adjust policies, practices and procedures so that the disabled are not treated less favourably’. Therefore, we all have the right to work and for our colleagues to facilitate our integration in the workplace.
The General Medical Council, by their own admission, “have followed a ‘hands off’ approach to CPD” (doctors’ Continuing Professional Development, which includes keeping updated about new conditions) “and have left the medical Royal Colleges and others to get on with it” but, in July 2010, Lord Patel reported that “The GMC should update its 2004 CPD guidance.”
(google GMC paper ‘The Role Of The Regulator In Doctors’ CPD’ for full article)

If possible:
• Briefly state how the condition affects you.
• Refer to the social model of disability.
• Refer to the Patel report for the General Medical Council about
re-examining the issue of Continuing Professional Development for doctors.

Here is a list of the British medical organisations we contacted to request that GPs be informed about TMAU and/or that research is carried out regarding Trimethylaminuria and other odour-producing medical conditions:

• Dr. Clare Gerada and Mike Wheelan at the Royal College of General Practitioners, 1 Bow Churchyard, London EC4M 9DQ.
We had a response from Ruth Palmer. (Tel 020 3188 7425)

• Clinical Innovation and Research
We had a response from Hannah Price. Tel 020 3188 7597

• Linda Willmott Tel 020 7395 2312 Rosa Parker ( )
at the Medical Research Council
We had a response from Felicia Rodriguez.

• General Medical Council
We had a response from Jabbran Bhatti (0161 923 6602)

• British Medical Association

• Royal College of Physicians
Professor Humphrey Hodgson (020 7935 1174) replied.

List of British Health MPs to be contacted

Andrew Lansley CBE MP
Secretary of State For health
Constituency Office
153 St Neots Road
Cambridge CR23 7QJ

Simon Burns MP (Chelmsford)
Minister of State for Heath
House Of Commons
London SW1A OAA

Paul Burstow MP
Minister Of State Care Services
Department Of Health
Richmond House
79 Whitehall
London SW1A 2NS

Anne Milton
Under Secretary Of State Public Health
17A Home Farm
Loseley Park
Guildford GU3 1HS

This is the reply received from the RCGP:

Further to my previous email, one of our clinical leads has very helpfully considered the information you provided and responded with the attached information and ideas. He acknowledges that this is likely to be a condition that is not widely known by GPs because of its rarity.

We find that it is more effective to prepare clinical updates for GPs on a number of related conditions than to constantly bombard them with information on individual conditions that they are likely to see very rarely, or indeed never in many cases. We will therefore address this issue by looking into producing some material on the theme of ‘rare inherited metabolic diseases’. In respect of the distribution of this information, we will consider whether it is more effective to produce an educational update or a medical journal article.

I hope that you can now appreciate that if we contacted our members directly about every rare condition (of which there are many thousands) in isolation, the information would lose its impact and that this approach is far more likely to be noted and retained by the reader.

Yours sincerely

Ruth Palmer
Director, Professional Development and Standards
Tel: 020 3188 7425

This is the attachment referred to in the reply:

Trimethlyaminuria (TMAU)

Trimethlyaminuria (TMAU) is a rare metabolic disorder which can affect individuals from birth onwards. Due to an enzyme deficiency in the liver there is excess excretion of Trimethyamine into urine, vaginal secretions, breath, sweat and saliva.

There is a causative malfunctioning gene identified. The genetic test though is not offered as a genetic test through the UK Genetic Testing Network, which is the organisation that makes recommendations for genetic testing for diseases to NHS commissioners.

Incidence and prevalence
TMAU is listed under ORPHANET which is a European rare disease register (a rare disease is one with an incidence of less than 1 in 2000) The prevalence is unknown (although I did read a quoted figure of 1% but not clear in what population). This may be due to poor clinical awareness. Women may be much more affected .
Health Impact.
Can be considerable for an affected individual who may be aware of a strong fish body odour. The health ill effects are predominantly psychosocial problems with difficulty in forming relationships etc.

Clinical effectiveness
There are biochemical tests other than genetic tests that allow a diagnosis, though not clear if this is generic to most biochemistry labs – suspect not. The disease itself is not curable but the effect can be reduced through dietary restriction of certain foods (rich in choline eg eggs, fish etc), The use of antibiotics also helps as does avoiding drugs that affect liver metabolism.

What does it mean for General Practice?
It’s a rare disease: GPs may have one affected patient on an average sized list, although this may be an under-representation. Greater clinical awareness, however, could change these patients’ lives. Plus patients affected need genetic counseling (Autosomal recessive).

What does it mean for the RCGP?

Suggested actions:

1. Highlighting the presentation of rare diseases in a generic manner could be a useful educational exercise – for example in the context of children with inborn errors of metabolism. This could be addressed via e-learning, articles or CPD updates.

2. We could work with the Genetic Alliance UK (an amalgamation of many different patient societies, including ‘Children Living with Inherited Metabolic Diseases’ which is relevant).

I would be happy to talk to the Director of the Alliance, who is a very well respected figure, about the role of the GP in the setting of such a rare disease and maybe we could come up with some good practice guidelines between us.

3. We could look for an opportunity to do a case study article either specifically around TMAU or on several rare inherited metabolic diseases.
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Postby debs » Sun Jun 26, 2011 3:50 pm

Hi, I would like to help by sending an email to MP's, Most MP's wont read a long letter but would read a short one with clear actions I wanted them to do so do you have a summary of say 10 action points you want me to list?
I can e mail my local Mp's but which major ones that are responsible for Health would you prefer to be targeted?
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Postby malory » Sun Jun 26, 2011 3:57 pm

Hi Debs
Great to hear from you!
Please e-mail Simon Burns, Andrew Lansley, Anne Milton, Paul Burstow. The contacts are on the above mega e-mail. Also, the points to be covered can be as simple as you explaining briefly how your condition affects you and how the medical profession need to address these disorders with more seriousness and rigour. I can cover the rest as MEBO research (Maria) will be e-mailing the mps as well.
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