Here is some information I got from John Novack at Inspire.com about
searching on symptoms for rare diseases:
We partner with Genetic Alliance http://www.geneticalliance.org/ and that
might be an organization for this person to approach.
On Inspire we have a group
http://www.inspire.com/groups/undiagnosed-medical-problems/ that might be
of help. It's a longshot, but maybe if the person searches on Inspire.com
for certain symptoms then he/she might find a matching community. We have a
search box at the top of the page. I did try "Kabuki Syndrome" but didn't
get any matches.
Wish I could offer more help on this one.
John N.
Best regards to all,
Janice
*Janice McCallum*
*Health Content Advisors
<http://www.healthcontentadvisors.com/blog/>781.356.1766617.529.2594 (cell)*
On Mon, Jun 30, 2014 at 8:19 AM, Fenton-Stone, Christine A. <
[log in to unmask]> wrote:
> Find Zebra is a search engine for difficult medical cases and rare diseases
>
> http://findzebra.compute.dtu.dk/
>
>
> Christine Fenton-Stone
> Grey Bruce Health Services Library Technician
> 1800 8th Street East, Owen Sound ON N4K 6M9
> [log in to unmask]
> [log in to unmask]
> 519-376-2121 ext 2043
> Monday, Tuesday and Thursday 8am – 4pm
>
>
>
> -----Original Message-----
> From: Medical Libraries Discussion List [mailto:[log in to unmask]] On
> Behalf Of Ginny Ward
> Sent: Thursday, June 26, 2014 4:35 PM
> To: [log in to unmask]
> Subject: Re: Mystery syndrome identification through social media: Looking
> for resources
>
> https://www.rareconnect.org/en
>
> Connecting Rare Disease Patients Globally
>
> Also, NORD
>
> *https://www.rarediseases.org/about/vision-mission
> <https://www.rarediseases.org/about/vision-mission>*
>
> *And Eurodis*
>
>
> *http://www.eurordis.org <http://www.eurordis.org>*
>
> EURORDIS is a non-governmental patient-driven alliance of patient
> organisations representing 631 rare disease patient organisations in 58
> countries covering over 4000 diseases.
>
>
>
>
>
>
>
> Ginny
>
> On Thursday, June 26, 2014, Julie Hughbanks <[log in to unmask]>
> wrote:
>
> > OrphaNet
> > http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2322
> >
> > has links to registries, research projects, patient organizations, et al.
> >
> >
> >
> > -----Original Message-----
> > From: Medical Libraries Discussion List [mailto:[log in to unmask]
> > <javascript:;>] On Behalf Of Ginny Ward
> > Sent: Thursday, June 26, 2014 2:34 PM
> > To: [log in to unmask] <javascript:;>
> > Subject: Re: Mystery syndrome identification through social media:
> > Looking for resources
> >
> > Differential diagnosis, Kabuki syndrome:
> >
> > http://pfond.cmmt.ubc.ca/kabuki/about/all/differential-diagnosis/
> >
> >
> >
> > On Thursday, June 26, 2014, Catherine Arnott Smith <[log in to unmask]
> > <javascript:;>>
> > wrote:
> >
> > > Fellow listmembers, I was contacted by a friend with a family member
> > > in need of resources. I thought some good person on this wonderful
> > > list might know an answer or answers...
> > >
> > > The situation is this. A child in the family is believed to have a
> > > genetic condition but have been unable to attach any known,
> > > recognized
> > diagnosis.
> > > The closest they can get is "like" Kabuki Syndrome. But it is not
> > > Kabuki Syndrome.
> > >
> > > The family wants to try and find more children with this same
> > > mystery syndrome. They do not need clinical information, but are
> > > looking for strategies on how best to use social media to find other
> > > families like them. I've done some basic medical literature
> > > searching, but most of what I find is about recruitment of patients
> > > living with rare diagnoses that are not mysteries. Or I find
> > > situations like Fatal Familial Insomnia where the condition is
> > > extremely rare but efforts need to be made to track down people in
> > > the same family, as opposed to unrelated people with the same issues.
> > >
> > > Ideas most welcome! Thanks!
> > >
> > >
> > > --
> > > Catherine Arnott Smith, PhD
> > > Associate Professor
> > > School of Library and Information Studies University of Wisconsin
> > >
> > > Faculty in Residence, Living Environments Laboratory Wisconsin
> > > Institutes of Discovery
> > >
> > > **on sabbatical leave at Indiana University, Bloomington, IN,
> > > August-December 2013**
> > >
> > > Blogging at http://elfshot.info
> > >
> > > ***
> > > The machine does not isolate us from the great problems of nature
> > > but plunges us more deeply into them.(Antoine de Saint-Exupery)
> > >
> > > ***
> > > Music is neither old nor modern: it is either good or bad music, and
> > > the date at which it was written has no significance whatever.
> > > (Peter Warlock - The Sackbut - 1926)
> > >
> >
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