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\u2014usually individuals with a stake in the related health condition. I thought that, for such contributions, this blog would be the ideal forum. <\/p>\n
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<\/p>\n
Citation:
\nThe revised Ghent nosology for the Marfan syndrome<\/p>\n
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<\/p>\n
J Med Genet 2010; 47: 476-485 (Original article)<\/p>\n
http:\/\/jmg.bmj.com:80\/cgi\/content\/abstract\/47\/7\/476<\/p>\n
http:\/\/jmg.bmj.com:80\/cgi\/content\/full\/47\/7\/476<\/p>\n
—————————————————————–
\n“Re:Re:Comments on the revised Ghent nosology for Marfan syndrome”
\n—————————————————————–<\/p>\n
I would just like to point out,that as an adopted person,with
\ntherefor no family history,I have since my birth,been misunderstood,and
\noften treated badly,especially by an insurance company,who did not beleive
\nmy hypermobility could possibly cause me any problems whatsoever!As I have
\nlived with this for a VERY long time,and you state that a clear diagnosis
\nmay hamper insurance claims,and reproduction,I would like to state that
\nthe opposite is also true,in that my son and I(also a marfan”) nearly lost
\nour lives in childbirth,and I have been treated as a most dreadful
\ncriminal and fraudulent in my claim for insurance when sick.I have also
\nbeen badly treated by doctors in the Merseyside area of UK,who have it
\nseems precious little knowledge of any hypermobility disorder.I have had
\nheart problems since when I was born,and tomorrow I see my first
\nspecialist ever!for this condition,I think frequently being too cautious
\nis very detrimental to folks lives,I for one have had to self medicate,and
\nstrap my body up with sellotape for years,I am now wheelchair,and
\nbedridden,early intervention PLS,with more medical training for UK doctors<\/p>\n
<\/p>\n","protected":false},"excerpt":{"rendered":"
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\u2014usually individuals with a stake in […]<\/p>\n