For your information... please note the attached article from Italy, about
quality of life for EB patients.
�
Best regards,
Gena Brumitt Gruschovnik






E.D., Walk a Mile in My Shoes campaign for International EB Awareness Week -
(note new website after May 31 - www.mywalkamile.org

Co-Host, Tomorrow Think of Me event - www.tomorrowthinkofme.org

Vice Treasurer, Executive Committee, DEBRA International -
www.debra-international.org






Director of Awareness & Education, DEBRA Canada - www.debracanada.orgWe must be
the change we wish to see in the world.� ~ Mahatma Gandhi

--- On Mon, 5/25/09, paola.zotti@...
<paola.zotti@...> wrote:


From: paola.zotti@... <paola.zotti@...>
Subject: QoL in EB patients on British Journal...
To: coordinators@...
Received: Monday, May 25, 2009, 12:02 PM


Dear all

I'm glad to inform you that the British Journal of
Dermatology has accepted to publish the article you'll find
attached. At the moment the article is only online.

Kindest regards
Paola


[Non-text portions of this message have been removed]

For your information... sharing a press release from NORD about their new
program to develop effective treatments for rare diseases.
 
Best regards,
Gena Brumitt Gruschovnik
http://www.tomorrowthinkofme.roundtablelive.org/





Vice Treasurer, Executive Committee, DEBRA International -
www.debra-international.org
Director of Awareness & Education, DEBRA Canada - www.debracanada.org
We must be the change we wish to see in the world.  ~ Mahatma Gandhi

--- On Thu, 5/21/09, NORD <orphan@...> wrote:


From: NORD <orphan@...>
Subject: NORD President Praises New NIH Initiative
To: "otm@..." <otm@...>
Received: Thursday, May 21, 2009, 12:12 PM




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 NORD Press Release
Keeping you informed about rare diseases and orphan products
National Organization for Rare Disorders
May  2009

NORD President Praises New NIH Initiative

NORD President and CEO Peter L. Saltonstall today praised the establishment of a
new initiative at the National Institutes of Health (NIH) to encourage the
development of treatments for rare and neglected diseases. 
“There are nearly 7,000 rare diseases and only about 200 of them have an
FDA-approved therapy,” Saltonstall said.  “Every day, our staff members
assist patients and families whose lives are being impacted in very significant
ways by the fact that there is no treatment for the diseases affecting
them.” 
On Wednesday, the NIH announced the launch of a new program to address this
problem.  Called Therapeutics for Rare and Neglected Diseases (TRND), it will
create a drug development pipeline to stimulate research collaborations with
academic scientists.  The program is an attempt to bridge what is sometimes
called “the valley of death” in drug development—the phase between
promising early research and clinical trials. 
Some 80 to 90 percent of potential new drugs fail during this preclinical phase,
and the costs are high.  It takes an estimated two to four years of work and
$10 million, on average, to move a potential medicine through this phase.   
With $24 million in funding, the new NIH program has the potential to lead to
significant progress in the development of safe, effective treatments for people
with rare and neglected diseases. 
“This is a tremendously important initiative,” Saltonstall said. “Since
the enactment of the Orphan Drug Act, NORD has devoted a major share of its
advocacy efforts toward facilitating the development of safe, effective
treatments through innovative research.  Now, NORD stands ready to help in any
way we can with TRND. 
 
 
NIH’s press release about TRND: 
NIH ANNOUNCES NEW PROGRAM TO DEVELOP THERAPEUTICS FOR RARE AND NEGLECTED
DISEASES 
 
The National Institutes of Health is launching the first integrated, drug
development pipeline to produce new treatments for rare and neglected diseases.
The $24 million program jumpstarts a trans-NIH initiative called the
Therapeutics for Rare and Neglected Diseases program, or TRND. 
 
The program is unusual because TRND creates a drug development pipeline within
the NIH and is specifically intended to stimulate research collaborations with
academic scientists working on rare illnesses. The NIH Office of Rare Diseases
Research (ORDR) will oversee the program, and TRND's laboratory operations will
be administered by the National Human Genome Research Institute (NHGRI), which
also operates the NIH Chemical Genomics Center (NCGC), a principal collaborator
in TRND. Other NIH components will also participate in the initiative. 
 
A rare disease is one that affects fewer than 200,000 Americans. NIH estimates
that, in total, more than 6,800 rare diseases afflict more than 25 million
Americans. However, effective pharmacologic treatments exist for only about 200
of these illnesses. Many neglected diseases also lack treatments. Unlike rare
diseases, however, neglected diseases may be quite common in some parts of the
world, especially in developing countries where people cannot afford expensive
treatments. Private companies seldom pursue new therapies for these types of
illnesses because of high costs and failure rates and the low likelihood of
recovering investments or making a profit. 
 
"NIH is eager to begin the work to find solutions for millions of our fellow
citizens faced with rare or neglected illnesses," said NIH Acting Director
Raynard S. Kington, M.D., Ph.D. "The federal government may be the only
institution that can take the financial risks needed to jumpstart the
development of treatments for these diseases, and NIH clearly has the scientific
capability to do the work." 
 
DEVELOPING DRUGS 
 
The drug development process is complicated and expensive.  Studies suggest
that it currently takes more than a dozen years and hundreds of millions of
dollars to take a potential drug from discovery to the marketplace. And the
failure rate is high. 
 
"This initiative is really good news for patients with rare or neglected
diseases," said ORDR Director Stephen C. Groft, Pharm.D.  "While Congress has
previously taken important steps to help these patients, such as providing
incentives for drug companies under the Orphan Drug Act, this is the first time
NIH is providing support for specific, preclinical research and product
development known to be  major barriers preventing potential therapies from
entering into clinical trials for rare or neglected disorders. While we do not
underestimate the difficulty of developing treatments for people with these
illnesses, this program provides new hope to many people world-wide." 
 
Typically, drug development begins when academic researchers studying the
underlying cause of a disease discover a new molecular target or a chemical that
may have a therapeutic effect. Too often, the process gets stuck at the point of
discovery because few academic researchers can conduct all the types of studies
needed to develop a new drug. If a pharmaceutical company with the resources to
further the research does get involved, substantial preclinical work begins with
efforts to optimize the chemistry of the potential drug. This involves an
iterative series of chemical modifications and tests in progressively more
complex systems - from cell cultures to animal tests - to refine the potential
medicine for use in people. Only if these stages are successful can a potential
treatment move to clinical trials in patients. 
 
Unfortunately, the success rate in this preclinical process is low, with 80 to
90 percent of projects failing in the preclinical phase and never making it to
clinical trials.  And the costs are high: it takes two to four years of work
and $10 million, on average, to move a potential medicine though this
preclinical process.  Drug developers colloquially call this the "Valley of
Death." 
 
TRND will work closely with disease-specific experts on selected projects,
leveraging both the in-house scientific capabilities needed to carry out much of
the preclinical development work, and contracting out other parts, as scientific
opportunities dictate. Its strategies will be similar to approaches taken by
pharmaceutical and biotechnology companies, but TRND will be working on diseases
mostly ignored by the private companies.  Importantly, TRND will also devote
some of its efforts to improving the drug development process itself, creating
new approaches to make it faster and less expensive. 
 
If a compound does survive this preclinical stage, TRND will work to find a
company willing to test the therapy in patients.  There are several stages to
the clinical trials process that can take several years before the safety and
efficacy of a new drug is determined. FDA will only approve a drug for general
use after it passes these trials. The clinical trials process is also expensive,
but the failure rate is lower at this stage. 
 
"NIH traditionally invests in basic research, which has produced important
discoveries across a wide range of illnesses," said NHGRI Acting Director Alan
E. Guttmacher, M.D. "Biotechnology and pharmaceutical companies have enormous
strength and experience in drug development, but to maximize
return-on-investment work primarily on common illnesses.  TRND will develop
promising treatments for rare diseases to the point that they are sufficiently
"de-risked" for pharmaceutical companies, disease-oriented foundations, or
others, to undertake the necessary clinical trials. NIH's goal is to get new
medications to people currently without treatment, and thus without hope." 
 
NIH already has many components of the drug development pipeline within its
research programs. TRND will begin its work in collaboration with the NIH
Chemical Genomics Center (NCGC), a center initially developed as part of the NIH
Roadmap for Medical Research. NCGC has developed a robotic, high-throughput
screening system and a library of more than 350,000 compounds that it uses to
make basic discoveries and probe cellular pathways. NCGC also has developed a
team of researchers skilled in developing assays representing disease processes
that can be tested in its screening system, and has extensive experience
building collaborative projects with investigators from across the research
community. Molecules with potential therapeutic properties that emerge from the
NCGC screening process could be fed into the TRND drug development pipeline. 
 
"With this new funding, TRND will develop teams of scientists who can do the
hard work of optimizing chemicals that we or others discover that may treat rare
diseases and turn them into actual drugs," said NCGC Director Christopher P.
Austin, M.D., who is also the Senior Advisor for Translational Research to the
NHGRI Director.  "This will still be hard work and it will take time and
produce failures. Unlike traditional drug development, however, where only
successes are published, we will publish our failures as well, so everyone in
the drug development community can learn from them. That alone could be
revolutionary." 
 
If all the preclinical hurdles can be crossed, a possible treatment must still
be tested in a series of clinical trials. TRND will seek to take advantage of
several NIH resources that can help launch human studies, including the NIH
Clinical Center, the NIH Rapid Access to Interventional Development (NIH-RAID),
and the Clinical and Translational Science Awards (CTSA) program. 
 
EXTERNAL PARTNERS 
 
Numerous obstacles impede the development of new drugs for rare and neglected
diseases. In addition to the reluctance of private companies to risk their
capital on a potentially low return, relatively few basic researchers study rare
diseases, so the underlying cause of the illness frequently remains unknown.
And, because rare diseases are rare, researchers often have difficulty
recruiting enough people with the disorder to participate in a clinical trial
once a candidate compound reaches the stage where it can be tested in people.
Moreover, for many rare diseases, the natural history of the disease is poorly
understood, so researchers lack the needed clinical measures (such as blood
pressure) that can demonstrate whether a treatment is working. 
 
To address these difficulties, TRND will seek a wide range of collaborations
with academic researchers, as well as partnerships with patient advocacy
organizations, disease-oriented foundations and others interested in treatments
for particular illnesses. TRND's leaders hope that the collaborations will help
lay the groundwork for clinical trials once that point in drug development is
reached. 
 
TRND is currently setting up an oversight process to help it decide which
projects that address thousands of rare and neglected diseases will be pursued.
 Leadership currently envisions a small number of diseases being studied each
year, with strict criteria used to determine which molecules will be studied for
which diseases. NIH expects to use existing intellectual property policies to
transfer licenses for TRND-discovered drugs to private companies or others for
development, clinical testing and marketing. 
 
Frequently asked questions about this new program are available online at: 
 
-- FAQ on the Therapeutics for Rare or Neglected Diseases (TRND) program:
<www.genome.gov/27531965> 
 
-- TRND FAQ on Neglected Diseases: <www.genome.gov/27531964> 
 
-- TRND FAQ on Rare Diseases: <www.genome.gov/27531963>

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© 2009 NORD, National Organization for Rare Disorders
55 Kenosia Ave., Danbury CT 06813       Tel: 1-800-999-NORD

[Non-text portions of this message have been removed]

Dear all -� Please see the following new EB article, featuring our lovely
friend, Novelette Munroe.� http://www.thestar.com/living/article/636886
�
Also please check out this test website
http://www.tomorrowthinkofme.roundtablelive.org/� which will be moving over to
www.tomorrowthinkofme.org shortly.� DEBRA Canada is honored to host one of three
simultaneous international EB events, at the CN Tower in Toronto on October
29th.
�
The new "Walk a Mile in My Shoes" campaign website will be "live" by the end of
May, at www.mywalkamile.org.� The WAM campaign goes global this year, in
recognition of our first-ever International EB Awareness Week.
�
Can you spare�even one hour a week to write to policy-makers?� If so, please
email me at gena@... to let me know you can donate some energy to
the most important awareness week ever!� Organizers are setting up in
primary�countries already, and they are very enthusiastic and ready to help you!
�
There will never be a FIRST International EB Awareness Week again.��EB
families�all over the world are counting on us, and greatly motivated by our
humanitarianism.� We are embattled, especially with the recent loss of beloved
children, Gabriel and Grace, but we are not beaten.��NOW is the time for us to
put our compassion in action!�
�
Best regards,
Gena Brumitt Gruschovnik






We must be the change we wish to see in the world.� ~ Mahatma Gandhi

[Non-text portions of this message have been removed]

Dear all -
�
I am incredibly saddened to�share with you the message I received from Maureen
Peshkur last night - their granddaughter, Grace, passed away.� Some of you
know�this already from Kristina's post on the forums.��I am�told that
arrangements are pending.
"Don and I are saddened to tell you all that our granddaughter Grace passed away
this afternoon. Grace fought her disease very hard and because of that we all
know that she is in the arms of Our Lord right now. She is�no longer in pain and
that is our only consolation. I do know that another Grace (my mom) is holding
her in her arms right now.�Thank you all for all the prayers you have said for
Grace in the past.�We know that it is because of those prayers that we had her
for six years."
�
Grace was a beautiful little New York girl who had RDEB.� This, so soon after
the loss of Gabriel, is almost too much to bear.� Grace's family, the Peshkurs
and the�Farleys, are all in my prayers now.
�
With great respect,
Gena
�

http://www.tomorrowthinkofme.roundtablelive.org/
(moving to www.tomorrowthinkofme.org this week)






We must be the change we wish to see in the world.� ~ Mahatma Gandhi

[Non-text portions of this message have been removed]

Hi, everyone - please have a look at this:
http://www.tomorrowthinkofme.roundtablelive.org/�
This site will transfer soon to www.tomorrowthinkofme.org, it is currently a
"test" site.� This will be a very exciting signature event (actually, three
simultaneously) for our week.

AND!� A new "Walk a Mile in My Shoes" website will be "live" by May 15, at
www.mywalkamile.org, and the tools for awareness events/fundraisers will be
available to EB advocates EVERYWHERE.

If you are keen to VOLUNTEER a bit of time soon, I am looking for people to send
emails or letters to the public servants in their state or province (or country,
if it's small), asking for a public proclamation for International EB Awareness
Week. You are welcome to do just your state, or job-share - whatever you can
do!� I will provide letter examples, proclamation examples, etc.� If you are in
the U.S., we already have someone "manning" (in her case, "womanning") the
spreadsheet and ready to check them off!� :)� I hope that we are able to
accomplish this in every country where there are known EB families.� This will
help us get the media coverage, and thus boost the EB awareness.

All the best,
Gena







Vice Treasurer, Executive Committee, DEBRA International -
www.debra-international.org
Director of Awareness & Education, DEBRA Canada - www.debracanada.org
CEO, Walk a Mile in My Shoes campaign for International EB Awareness Week -
www.ebrelay.org
Co-Chair, Democrats Abroad Canada, London Chapter -
www.democratsabroad.org/group/canada

Past�President, Nokee Kwe Occupational Skill Development Inc. - www.nokeekwe.ca
We must be the change we wish to see in the world.� ~ Mahatma Gandhi

[Non-text portions of this message have been removed]

Hi, just forwarding this, in the event someone wants to take advantage of this
Crocs sale. Hope the information is viewable on yahoogroups.
 
Gena


From: Crocs <email_marketing@...>
Subject: Crocs Outlet – Up To 65% Off
To: otm@...
Received: Thursday, April 23, 2009, 10:37 PM




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Customer Service (303) 848-7100 | Our Privacy Policy
Click here to be removed from this mailing list.

[Non-text portions of this message have been removed]

Greetings!
�
I am happy to share�some "official" good news with you.��Please feel free to
pass it along to our other EB forums where I am not a member.� And of course,
most of you already know "our Millie" (Melissa in the video).� The
following�feature on research carried out by Prof. John McGrath was shown on UK
Channel 4 News over the weekend:

http://www.channel4.com/news/articles/society/health/hope+for+skin+disease+suffe\
rers+/3097987
I�attach�the press release prepared by Dr. Clare Robinson, Research Manager at
the DEBRA International Medical�and Scientific Advisory Panel.� You can share
this with your local media, if you like.
�
I can also pass on news�that Prof. Michele De Luca
(http://www.debra.org.uk/breakthrough-in-eb-research.html), will be back in the
lab with a coming expanded clinical trial in Italy.� As well, some of my
colleagues attended the conference in Zagreb, Croatia, and tell me that Prof.
Alain Hovnanian in France intends to open a lab in Paris soon for a new clinical
trial.� All VERY good news for our EB community!
�
I am sure you may be starting to wonder what�YOU can do�this October, to create
EB awareness and help all of this research take place!� There will be ample
opportunity for everyone, anywhere, this year...�each of us has an impact on our
world, and now is NOT the time for complacency, when gene therapies are gearing
up!� So please, THINK�globally and ACT locally at the grassroots, because that
is where we connect, where we are heard.� Now more than ever, EB patients are
not alone.
�
I gave a talk last October at the DEBRA International EB conference that took
place in Belgium, and garnered�the curiousity of EB advocates from around the
globe, in what we've been doing in North America.� And so, in 2009, the Walk a
Mile in My Shoes�campaign�expands to take place globally.� There will be an open
invitation to DEBRA partners, and EBMRF will�continue as a treasured partner -
this year marks our transition from recognizing National EB Awareness Week, to
recognizing INTERNATIONAL EB AWARENESS WEEK.� The related Second Life benefit
will again be available for�people who prefer to be a "virtual activist."�
�
And last but certainly NOT least, I'm working on behalf of DEBRA Canada
alongside DEBRA Italy and DEBRA of America, to host our�FIRST international
awareness / fundraising event, called "Tomorrow, Think of Me"
-�connected-by-satellite�extravaganzas taking place at the same time in Rome,
New York City and Toronto, at incredible venues, with an international
art/jewelry auction.� We aim to have a global charity appeal during the entirety
of International EB Awareness Week, the last week of October.� I will share the
names of patrons and initial sponsors with you soon - I think you'll be pleased
with our efforts.�
�
If EVER there was a time when we need to come together as a community, as a
team, in harmony, it is this year.� Here are a few things you
can�start�PLANNING,�to be involved:


Write to your local and state/provincial policy-makers (mayors, governors, MP's,
MPP's) and ask them to make a public proclamation of International Epidermolysis
Bullosa Awareness Week (the new and improved WAM website will have examples of
letters you can use, and effective official proclamations that have been made in
prior years);

Participate by registering to attend one of the three TTM events in Rome, NYC or
Toronto, once details are posted and a guest list is underway;

Draft a press release (you'll get the tools at the new WAM website to do so) and
ask your local media to do a story on EB;

Create a social media group or blog, and tell the world your EB story, and ask
others to participate;

Host a WAM walkathon or other fundraiser (firefighter charity drive?
dance-athon? potluck dinner? http://www.ebrelay.org/Fundraising%20Tips.pdf), and
donate your proceeds to a legitimate EB nonprofit charity where the money will
be used competently and it will�make an�impact; and/or

Watch the satellite broadcast when Rome/NYC/Toronto patrons and hosts are on,
October 29th, exact timeframe to be designated.
�
We need more effective treatments, more support for our EB families worldwide,
and more funding to find the cure(s) for EB.� But I don't have to tell you that
- I am preaching to the choir, as they say!� PLEASE�add me as a Facebook friend
(gena brumitt gruschovnik), if you will,�or follow my Twitter (libertygena), to
ensure you hear about�the progress we're making with these activities!�
�
If you feel that you have some time to spare to help with the WAM campaign or
TTM planning, please email me as soon as possible.� We could surely use a few
more dedicated, energetic people, and I'd like to set up�about�five groups of
three people each, working on specific projects.� One thing I am working on
right now is to make arrangements with LiveStation for our live charity appeal.�
If we're successful, I expect some EB families will be asked to SKYPE in -
again, please email me if you feel you can spare some time and energy for
interviews that last week of October.� When the media come asking, we'd like to
know who to send them to!
�
Thanks so much for listening,�and always know it is my sincere honor to serve
you all, in�tribute to�my Mom.� It is a very good way for me to celebrate her
life.
�
ON or AFTER MAY 1 (please, NOT before!),�VISIT www.mywalkamile.org, our new
"Walk a Mile in My Shoes" international campaign website.� The old site will not
be updated, and will�be taken down later this year.
�
Happy SPRING, and God bless!
Gena
About my Mom: http://www.ebrelay.org/inspiration.html�
�





Vice Treasurer, Executive Committee, DEBRA International -
www.debra-international.org
Director of Awareness & Education, DEBRA Canada - www.debracanada.org
CEO, Walk a Mile in My Shoes campaign for International EB Awareness Week -
www.ebrelay.org


We must be the change we wish to see in the world.� ~ Mahatma Gandhi

[Non-text portions of this message have been removed]

Hello, all -
�
Please see the�update�on the DEBRA International website, providing a
preliminary program for�the�2009 international conference�that will take place
in Prague in September:
http://www.debra-international.org/fileadmin/editor/events/2009-09_Prague_prelim\
inary_programme_DEBRAIntMeeting09.pdf
�
All the best,
Gena Brumitt Gruschovnik






Vice Treasurer, Executive Committee, DEBRA International -
www.debra-international.org
Director of Awareness & Education, DEBRA Canada - www.debracanada.org
Founder, Walk a Mile in My Shoes campaign for National EB Awareness Week -
www.ebrelay.org
Acting�President, Nokee Kwe Occupational Skill Development Inc. -
www.nokeekwe.ca

Co-Chair, Democrats Abroad Canada, London Chapter -
www.democratsabroad.org/group/canada
We must be the change we wish to see in the world.� ~ Mahatma Gandhi

[Non-text portions of this message have been removed]

Hello, EB friends -
�
One of our EB clinics has asked me to share this information�with the EB
community, and I'm glad to do so.� If you can, please post this email on EBZone
and EBFriends, where I am not a participating member, so that those EB families
can also learn about this opportunity, and please share with anyone who may not
be on a forum that might be interested.
�
Please find attached a letter TO YOU from Chicago Children's Memorial Hospital,
which describes a new research study to be�initiated to determine the benefits
of Alwyn (Alwextin) cream.�
�
It has received "orphan designation" by the FDA but has not yet received a
"marketing exclusivity date":
�http://www.fda.gov/Orphan/designat/alldes.rtf.��Here is a description of the
research study on the NIH database:�
http://clinicaltrials.gov/ct2/show/NCT00825565.�
�
Twenty patients are needed, the age must be 6 months or older, preferably RDEB
and at least 25% affected.� Please read the attached letter for more information
and/or contact the

clinical�research fellow working on this study, Dr. Reena Vaid.� Reena�invites
your questions, comments and expressions of interest in participating in the
study.�
�
No money has been budgeted�in this trial for the travel costs of EB patients,
unfortunately, but please remember how important these trials are toward the
development�of approved, effective, insurance-covered EB treatment options.�
There are so few!!!� It may be very much worth your while to find a way to
participate.� If you need ideas on how to raise money in order to participate,
let's all�share that information here in the forum.
�
Please feel free to call or email Reena, here is her contact information:
Email:� rvaid@...
Phone:� 773-327-3326

All the best,
Gena Brumitt Gruschovnik
�





Vice Treasurer, Executive Committee, DEBRA International -
www.debra-international.org
Director of Awareness & Education, DEBRA Canada - www.debracanada.org
Founder, Walk a Mile in My Shoes campaign for National EB Awareness Week -
www.ebrelay.org
Acting�President, Nokee Kwe Occupational Skill Development Inc. -
www.nokeekwe.ca

Co-Chair, Democrats Abroad Canada, London Chapter -
www.democratsabroad.org/group/canada
We must be the change we wish to see in the world.� ~ Mahatma Gandhi

[Non-text portions of this message have been removed]

Hello, all -
�
Yesterday, International Rare Disease Day 2009, the European Organization for
Rare Diseases (EURORDIS)�launched�"The Voice of 12,000 Patients."� This book
presents an analysis of data collected through�surveys on the experience and
expectations of patients regarding access to diagnosis and health services.�
�
I attach the downloaded EB chapter pdf.� To download�the entire book
electronically, or to see other-language versions, go to:
http://www.eurordis.org/article.php3?id_article=1960
�
I hope you find this helpful.� I would appreciate it if someone could please
post this email�on other groups where I am not a�participant (EB Friends, EB
Zone), as those members of our EB community may also find the information
useful.� Thanks!
�
DEBRA Canada and the Walk a Mile in My Shoes campaign were partners in Rare
Disease Day 2009 - for information on how you can be involved�in 2010,�check
out�www.rarediseaseday.org�and
http://www.rarediseases.org/rare_disease_day/rare_disease_day_info.
�
Best regards,
Gena Brumitt Gruschovnik
(NOTE: International Rare Disease Day is recognized�on Feb. 29th - a rare day
itself - and in years when there is no Feb. 29th, it is recognized on Feb.
28th.)�

Vice Treasurer, Executive Committee, DEBRA International -
www.debra-international.org





Director of Awareness & Education, DEBRA Canada - www.debracanada.org
Founder, Walk a Mile in My Shoes campaign for National EB Awareness Week -
www.ebrelay.org
Acting�President, Nokee Kwe Occupational Skill Development Inc. -
www.nokeekwe.ca

Co-Chair, Democrats Abroad Canada, London Chapter -
www.democratsabroad.org/group/canada
We must be the change we wish to see in the world.� ~ Mahatma Gandhi

[Non-text portions of this message have been removed]

Dear All -��
�
It is with tremendous sadness�that I�inform�you...�Alejandra Stuparich, EB
clinic nurse and coordinator at The Hospital for Sick Children in Toronto,
Ontario, passed away Sunday night after a fierce battle with cancer. �Many of
you met her over the years.
�
The funeral will take place at 11 a.m. tomorrow, Tuesday, Feb. 24th, at Marshall
Funeral Home in Richmond Hill, Ontario.��Arrangements were made�to accommodate
her sisters' return to Chile Tuesday night.�
�
Alejandra was an intrinsic member of the EB clinic at SickKids, which is led by
Dr. Elena Pope - I know she will be greatly missed by both her colleagues and
patients.� Please join me in a moment of silence at 11 a.m. tomorrow (EST) to
remember this incredibly special EB advocate. �There are angels in our midst, I
have no doubt - and Alejandra was one of them.

Best regards,
Gena Brumitt Gruschovnik






Vice Treasurer, Executive Committee, DEBRA International -
www.debra-international.org
Director of Awareness & Education, DEBRA Canada - www.debracanada.org
Founder, Walk a Mile in My Shoes campaign for National EB Awareness Week -
www.ebrelay.org
Acting�President, Nokee Kwe Occupational Skill Development Inc. -
www.nokeekwe.ca

Co-Chair, Democrats Abroad Canada, London Chapter -
www.democratsabroad.org/group/canada
We must be the change we wish to see in the world.� ~ Mahatma Gandhi

[Non-text portions of this message have been removed]

Hello, all -
�
If you are a member of�EBZone or EBFriends, please pass this on as I am not a
member of those groups...
I haven't been on the yahoogroups or able to read�digests in some time due to
other commitments, so I don't know if this has been a topic of discussion...�if
not, I wanted to share this very sad story about a baby with EB.� I thought
there may be�a Texas EB family who could contact�CPS to offer helpful EB
knowledge/assistance. Please see the article in the Dallas News:
http://www.dallasnews.com/sharedcontent/dws/news/localnews/stories/DN-sickbaby_1\
7met.ART.State.Edition1.4c41641.html
�
These links may be helpful for�CPS contact information:
http://www.dcac.org/pages/contact_us.aspx�
https://www.dfps.state.tx.us/Contact_Us/Default.asp
�
Not to bug everyone, but here's a last�reminder that Feb. 28th is International
Rare Disease Day 2009.� This is such a great opportunity!� The child on the
poster has EB - which is amazing considering�it's�one of�over 6,000 rare
(orphan) diseases in the world.� My friend and colleague, Paola Zotti of DEBRA
Italy, is on the EURORDIS board of directors and she must be credited for
getting the photo of this Belgian child with EB on the poster.��Paola has a
daughter with RDEB HS.
�
If you have a website, you can add a banner link to your page, more information
and the code you need are found here:� http://www.rarediseaseday.org/download

�
National Organization of Rare Disorders (NORD) has information about what's
happening in the U.S. here:� http://www.rarediseases.org/.� You can ask your
governor, city mayor, etc., to issue a proclamation such as those seen here:
http://www.rarediseases.org/rare_disease_day/rare_disease_day_map
�
DEBRA Canada is a partner in NORD and CORD for International Rare Disease Day
2009.
�
Love to all,
Gena
Vice-Treasurer, DEBRA International - www.debra-international.org
Director of Awareness & Education, DEBRA Canada - www.debracanada.org
Founder/CEO, Walk a Mile in My Shoes campaign for National EB Awareness Week -
www.ebrelay.org �
�

[Non-text portions of this message have been removed]

Hi, all - I am writing to ask for a big favor (for some of you, ANOTHER big
favor) for someone with EB.� Her name is Eugenia, and she has RDEB.� If you are
on yahoogroup's EBZone, Ning's EBFriends, or a non-English forum, please post
this as I am not�a member of those.
�
I've attached a photo of Eugenia�sent to me by�a social worker.� Eugenia is an
orphan who was raised in a hospital.� She is�26 years old.� This young woman has
been in/out of�a hospice in the country of Moldova, built by a NC-based�charity
that builds hospices around the world.� Moldova�was part of the USSR for many
years and is currently regarded as Europe's poorest country, with�the lowest GDP
per capita in Europe�in 2008.� (I had to look it up on a world map, of course!�
Geography was never my strong suit!).��Eugenia is not "dying" but the hospice is
the only choice, because there is no functioning hospital in this region.
�
Eugenia�discharged herself�and is�now staying with friends�in a�flat (with no
indoor plumbing).� The situation�is difficult�because she has almost no
dressings.� If she's out of the hospice, she's without dressings.�
�
When the�social worker�wrote to me, I managed to locate the�int'l hospice
charity�in North Carolina and sent them an email.� Today, I got an amazing phone
call from�a retired nurse, Pat Ashworth.� From 2000-2007, she�worked in Moldova,
and was in charge of building this hospice.� She knew Eugenia well.��
�
Pat�is VERY happy to serve as a go-between from the U.S. to Moldova and ship
over�a "care package" to this young woman.��She said that Eugenia was often
quite depressed - understandable, considering her dire straits.� She told me
Eugenia "loved poetry" and I immediately thought of the wonderful poets and
artists in our EB community!�
�
I thought it would be really nice to send some beautiful things�in this care
package, along wih dressings�- pictures made by your children, poetry, a nice
card or encouraging note, that sort of thing!� Something small or flat and easy
to ship.� We have a very kind, generous-hearted bunch, and I am sure that you
will do what you can.
�
If you have extra bandages (that you can spare) still in the package (the
basics, you'll know what's right - nothing requiring refrigeration,�nothing
overly-fancy - Mepitel and Mepilex would probably be a delight, and tube gauze
might be a real benefit!), please send them to Pat at this address:
Pat Ashworth
160 Bass Run
Salisbury, NC 28146
�
In the summer,�another shipment will�go to Moldova if there is an adequate
amount of supplies - so, if you want to send something but can't do it until
later, Pat will collect�things until the end of May for a second shipment.
�
God bless you, for helping this young lady!� Feel free to email me if you have
any questions, and thank you!
�
With love,
Gena Brumitt Gruschovnik

Vice Treasurer, Executive Committee, DEBRA International -
www.debra-international.org





Director of Awareness & Education, DEBRA Canada - www.debracanada.org
Founder, Walk a Mile in My Shoes campaign for National EB Awareness Week -
www.ebrelay.org
Acting�President, Nokee Kwe Occupational Skill Development Inc. -
www.nokeekwe.ca

Co-Chair, Democrats Abroad Canada, London Chapter -
www.democratsabroad.org/group/canada
We must be the change we wish to see in the world.� ~ Mahatma Gandhi

[Non-text portions of this message have been removed]

Hello, all -
�
I am happy to share�fresh news about the upcoming International Rare Disease Day
2009, Feb. 28th.� Please see news below (if you are on Yahoogroup EBZone, Ning
EBFriends or a non-English forum, please post this as I am not�a member of�those
forums).�
�
DEBRA Canada is a partner in CORD and NORD, who are both affiliates of
EURORDIS.� This year's International Rare Disease Day poster�shows a child with
EB named Merel, from Belgium.� Sadly, Merel died at age 10 in 2007 from
EB-related complications.�
�
Complete information about the event is here: www.rarediseaseday.org, and
further information suggesting ways�you may wish to observe this date�is here:�
http://www.rarediseases.org/rare_disease_day/rare_disease_day_info.
�
Discovery Health press release:�
http://corporate.discovery.com/discovery-news/national-organization-for-rare-dis\
orders-to-partne/�
�
Please share this date/event with everyone you know!� With 6,000+ rare diseases
in the world and millions affected, this year's poster�presents an opportunity
to create EB awareness - and in our hearts, recognize little Merel.
�
Best regards,
Gena Brumitt Gruschovnik


Vice Treasurer, Executive Committee, DEBRA International -
www.debra-international.org
Director of Awareness & Education, DEBRA Canada - www.debracanada.org
Founder, Walk a Mile in My Shoes campaign for National EB Awareness Week -
www.ebrelay.org

We must be the change we wish to see in the world.� ~ Mahatma Gandhi

From: NORD <orphan@...>
Subject: Discovery Health Joins NORD in Promoting Rare Disease Day
To: "otm@..." <otm@...>
Received: Tuesday, February 10, 2009, 7:21 PM




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�Rare Disease Day Partner
Keeping you informed about rare diseases and orphan products

National Organization for Rare Disorders (NORD)

February� 2009

Discovery Health Joins NORD in Promoting Rare Disease Day

Discovery Health To Be Media Partner
NORD is very pleased to announce that Discovery Health and its popular series,
Mystery Diagnosis, will be our media and program partners for Rare Disease Day.�
This means they will promote the day on the Discovery Health website
(www.discoveryhealth.com) and through their programming and media contacts.� A
national press release went out yesterday from the Discovery Health headquarters
in Silver Spring, Maryland.� Watch for future updates on this.�
NORD has worked with the producers of the Mystery Diagnosis TV show on several
episodes to raise awareness of rare diseases and the particular challenges faced
by affected individuals and families.� We appreciate Discovery Health�s offer of
assistance in promoting the themes of Rare Disease Day.� This will help us reach
a broader national audience.�
Global Rare Disease Day Online Sites
The global Rare Disease Day website is at www.rarediseaseday.org.� To see what�s
happening in other countries, go to this site and click on the various flags.�
Also, there are links on this site to the global Rare Disease Day social
networking pages on Facebook, YouTube, and Flickr.� Watch for an email within
the next few days regarding a U.S. Facebook presence that will link to the
global site. � �
Turn Your State Green!
Thanks to ALL who have submitted letters to their governors asking that Feb. 28,
2009, be declared Rare Disease Day in their states.� The map below shows
proclamations received to date.� We especially want to thank the members of the
Spastic Paraplegia Foundation.� That organization�s members have sent letters to
governors of approximately 40 states!� Click here for a sample governor�s letter
and proclamation (resolution).

Rare Disease Research Hall of Fame
We�ve received several nominations, and we hope to receive more.� We will accept
them up to Feb. 27.� To nominate a researcher, please send a short (one page or
less) description of the researcher�s work, in language all can understand, to
rarediseaseday@rarediseases. org.� Include brief information about the disease
being studied, as well as information about what makes this researcher�s work,
approach, or level of commitment special.� If possible, please also email a
photo of the researcher.�
Media Clippings Beginning to Surface
Thanks to all who have submitted press releases to their media contacts. If you
haven�t done so yet, please click here to access the Rare Disease Day press
kit.� Feel free to personalize the materials to include information on your
organization or a specific disease. �
Events Being Planned by Partners
Several RDD Partners have notified NORD of special events being planned for Rare
Disease Day.� These include the following:�

The Cushing Support and Research Foundation will host the first National Cushing
Day on February 28 at the Intercontinental Hotel in Boston.� For information, go
to www.csrf.net.�
�

February is Primary Lateral Sclerosis and Spastic Paraplegia Awareness Month.�
For information, contact Sharen Bosen at Sharon@... or Linda Gentner at
lkgentner@...
�

The Hannah's Hope Fund has scheduled a press conference with Governor Patterson
of New York for February 26 at which the governor will sign a Rare Disease Day
proclamation. For information, go to www.hannahshopefund.org/data/.

�

A �Miracles at Milleridge� dinner dance to raise awareness of cystinosis and all
rare diseases is being hosted by the Cystinosis Research Network on February
28.� For information, go to www.cystinosis.org.�
�

Members of the MdDS Balance Disorder Foundation (representing people affected by
mal de debarquement syndrome) and the Quest Educational Foundation are planning
a "Spa Day at Shimmering Pines" event in Florida to coincide with the opening of
a new Scripps Research Center there. For information, write to
russodm@....�
�

A �Leap of Hope� fundraiser for the Amyloidosis Foundation is being organized by
Lois and Richard Singer in Florida and will take place on Feb. 28.� For
information, write to rsinger2@....
�

BioMarin Pharmaceuticals has planned an event on Feb. 27 for its staff in
California at which NORD representatives Michael Langan and Nancy Harris (of the
NORD Board of Directors) will represent the RDD Partners.
�

The Office of Orphan Products Development at FDA is preparing a display of Rare
Disease Day posters and videos at FDA offices.� In addition, an FDA podcast is
being planned.
�

The NIH Genetic and Rare Disease Information Center (GARD) invited a NORD
representative to speak about Rare Disease Day to the GARD staff so that they
can share information about it with the public and with their media contacts.
�

Genzyme Corporation is planning a breakfast for its employees that will focus on
rare diseases and increasing awareness of what it�s like to have a rare disease.
�

The PMD (Pelizaeus Merzbacher disease) Foundation has planned awareness
activities that will "wrap up" with a party, including entertainment by a steel
drum band, on Sunday, March 1, at a local college culinary arts center (Hagerty
Center) in Traverse City, Michigan. Organizer Sharon Neumann extends an
invitation to any RDD Partners who happen to be in the area on that day! For
information, write to sneumann@....

�
If your organization or agency has planned an event that isn�t listed here,
please let us know about it so that we can share it with other RDD Partners. �
Last Call for Wristbands and Lapel Pins
After today, NORD will post the RDD wristbands and lapel pins on its website for
the public. If you�ve been planning to place an order, this would be the time to
do it.� Write to rarediseaseday@rarediseases. org and place orders in quantities
of 10. �
�

Current list of Rare Disease Day Partners

You are receiving this because the email address otm@... was subscribed
to our email list.
Unsubscribe from this newsletter.
� 2009 NORD, National Organization for Rare Disorders
55 Kenosia Ave., Danbury CT 06813������ Tel: 1-800-999-NORD


[Non-text portions of this message have been removed]

Hi, Colin - I still subscribe to Butterfly Children and quickly read the digests
I receive, but there are quite a few whose activity is down, including one I
started, EB Force for Action.� I just don't have the time to do much about it
because of other EB-related commitments, and also people seem like they are not
using the forums as much these days.�
�
I see much more activity relating to the EB community through my Facebook page.�
Add me as a friend if you like, and you'll see lots of people on there.
�
Wishing you a Happy New Year!
Gena Brumitt Gruschovnik


Vice Treasurer, Executive Committee, DEBRA International -
www.debra-international.org��

Director of Awareness & Education, DEBRA Canada -�www.debracanada.org��
Founder, Walk a Mile in My Shoes campaign for National EB Awareness Week -
www.ebrelay.org
Co-Chair, Democrats Abroad Canada, London Chapter -
www.democratsabroad.org/group/canada
Vice President, Nokee Kwe Occupational Skills Development Inc. -
www.nokeekwe.caWe must be the change we wish to see in the world.� ~ Mahatma
Gandhi

[Non-text portions of this message have been removed]

Hi. Who's still around reading this? Let me know. Thanks, Colin.

Hi. I hope you have a wonderful 2009. May it bring us that bit nearer
to a cure for EB. Bless you, Colin:-)

Hi all. Yes, this group is quiet, but it's helped change the
perception and awareness of EB-which is what we're all about. Have a
wonderful Christmas, and may your Christmas dreams all come true. God
bless, Colin (co-founder) Lyn and Daniel.x

Hello, all -

Please see updates for events, tools and resources for ways that you
can promote EB awareness during our special week, at
www.ebrelay.org.  Funds will be raised for DebRA of America, EBMRF,
DebRA Canada and DebRA Mexico.  Here are updates, ways that you can
participate!

EVENT LIST / TOOLS / RESOURCES

PLEASE PARTICIPATE!
(Our Oct. 18 Utah event reports great success!)
Oct. 25-31 Real-time Event location list for USA/Canada/Mexico

CREATE EB AWARENESS BY...
signing up for FREE at SECOND LIFE and participating
in our online GLOBAL WAM2008 benefit.
SATURDAY, OCTOBER 25TH!
From 4 p.m. SLT until midnight
(SLT = Second Life Time/Pacific Time)
Music Alchemy Concert and Event Pavilion
on Persenickety Isle (253, 45, 22) or use this location-based link
Second Life 2008 EB Benefit
Music by Jaycatt Nico, Frogg Marlowe, Lyndon Heart,
Tone Uriza, Kyle Beltran and Trinala!
Contact in-world member/event host "Caeleigh Lamington."
See you there!

HELP EBMRF FUND EB RESEARCH BY...
Supporting McKay Daines' Bike-A-Thon Oct. 18 - Nov. 8
McKay is a youth who has worked with EB patients.
To earn his Eagle Scout rank, McKay has chosen
a Walk a Mile in My Shoes bike-a-thon event as his
service project, to benefit EBMRF.
To learn more or make a pledge, send an email to EAGLE SCOUT PROJECT.

CREATE EB AWARENESS BY...
downloading the press release and sending
it to your local media outlets - newspaper, TV, radio.
Also, send it to your mayor, your congressperson, etc.,
asking them to issue a public proclamation!
Press Release for Walk a Mile in My Shoes 2008

CREATE EB AWARENESS BY...
printing out this brochure.
Each file is one side of the tri-fold brochure.
Print out a stack, fold, and distribute them throughout our week!
Brochure outside
Brochure inside

CREATE EB AWARENESS BY...
having a public showing of this PowerPoint presentation.
At your Walk a Mile in My Shoes event, at the library,
at a hospital or university, this creates greater awareness!
National EB Awareness Week Presentation

BUY A T-SHIRT - PROFITS SPLIT DEBRA/EBMRF
WAM2008 T-shirt

OR SIMPLY COLLECT DONATIONS FOR ONE OF OUR COMMUNITY PARTNERS TO FUND
EB RESEARCH AND FAMILY PROGRAMS!
Be sure to put "Walk a Mile in My Shoes" on the check memo line and
envelope so our nonprofit charities can tally up our awareness week's
efforts!

FOR ALL OF THE LINKS, please go to the www.ebrelay.org website, and
thank you!

All the best,
Gena
gena@...