Patient’s perspective on the revised Ghent nosology for Mafan syndrome

On our website, every article has a Submit a Response link and the resulting e-letters are published on-line without editorial evaluation, other than checking for offensive content or copyright infringement. The feature is meant for post-publication peer-review of a scholarly nature but, occasionally, is used by members of the public—usually individuals with a stake in the related health condition. I thought that, for such contributions, this blog would be the ideal forum.

Here is one such letter, commenting on a paper we published and an e-letter comment on it, from a patient’s perspective. It was sent by Ms Judith Desrosiers

The revised Ghent nosology for the Marfan syndrome

Bart L Loeys, Harry C Dietz, Alan C Braverman, Bert L Callewaert, Julie De Backer, Richard B Devereux, Yvonne Hilhorst-Hofstee, Guillaume Jondeau, Laurence Faivre, Dianna M Milewicz, Reed E Pyeritz, Paul D Sponseller, Paul Wordsworth, Anne M De Paepe

J Med Genet 2010; 47: 476-485 (Original article)

“Re:Re:Comments on the revised Ghent nosology for Marfan syndrome”

I would just like to point out,that as an adopted person,with
therefor no family history,I have since my birth,been misunderstood,and
often treated badly,especially by an insurance company,who did not beleive
my hypermobility could possibly cause me any problems whatsoever!As I have
lived with this for a VERY long time,and you state that a clear diagnosis
may hamper insurance claims,and reproduction,I would like to state that
the opposite is also true,in that my son and I(also a marfan”) nearly lost
our lives in childbirth,and I have been treated as a most dreadful
criminal and fraudulent in my claim for insurance when sick.I have also
been badly treated by doctors in the Merseyside area of UK,who have it
seems precious little knowledge of any hypermobility disorder.I have had
heart problems since when I was born,and tomorrow I see my first
specialist ever!for this condition,I think frequently being too cautious
is very detrimental to folks lives,I for one have had to self medicate,and
strap my body up with sellotape for years,I am now wheelchair,and
bedridden,early intervention PLS,with more medical training for UK doctors

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