Advocacy Spotlight: Tarlov Cyst Disease Foundation

Ruth J Hickman, MD
Published Online: Wednesday, May 11, 2016


The Tarlov Cyst Disease Foundation is the only foundation in the world solely dedicated to the cause of Tarlov cysts. Through promoting research, supporting families, and providing education, the foundation looks toward a future in which the disease is easily diagnosed and treated.

About Tarlov cysts

Tarlov cysts, also called perineural cysts, are dilations of the nerve root sheaths where the spinal nerves exit the spinal cord. The cysts, which contain cerebrospinal fluid, are found mostly in the base of the spine (the sacral region), though they are less commonly found in other spinal locations. They were named for Dr Isadore Tarlov, who first described the cysts in 1938. Individuals with Tarlov cyst disease may have multiple cysts of varying sizes.
 Unfortunately,most physicians believe that Tarlov cysts do not cause any symptoms. However, symptoms can begin as the cysts enlarge and compress nearby structures, or after trauma to the area. Specific symptoms depend on location and size, but can include intense pain (often in the lower back), weakness or cramping of the legs and feet, paresthesias, and bowel, bladder, and sexual dysfunction. The cause of Tarlov cysts is not understood, though conditions that increase pressure in the cerebrospinal fluid may increase risk.
Currently diagnosis and treatment for Tarlov cyst disease is a challenge. Because few doctors are knowledgeable about the disease and rarely obtain medical imaging of the sacral spine, patients are often not correctly diagnosed for many years. Though treatments for the condition are available, such as surgery, the outcome is highly variable among patients.

About the Tarlov Cyst Disease Foundation

Reta Hiers, RNC, is the founder, President, and Executive Director of the Tarlov Cyst Disease Foundation. 
In 2006, the Tarlov Cyst Foundation was incorporated.  
 In an interview with Rare Disease Report, Mrs. Hiers explains, “we wanted to be patients’ advocates to help patients understand their diagnosis and help their physicians understand their diagnosis.” The group decided that the foundation’s main goals would be patient advocacy, improving worldwide education about the condition, and promoting and funding research.
As part of its research efforts, the foundation encourages all patients diagnosed with Tarlov cysts to participate in surveys to be compiled into a scientific database. This will help researchers identify prevalence, etiology, symptoms, and treatment outcomes. The foundation also directly funds research on TC disease and works closely with researchers studying Tarlov cysts.
On its website, the Tarlov Cyst Disease Foundation provides extensive, detailed information about the condition, including information about local health resources, contact information for doctors with expertise, and the latest research advances. The foundation also provides a variety of educational resources to patients, family members, and the medical community. 
The members of the Tarlov Cyst Disease Foundation hope that in the future, patients will no longer be referred from general physicians to neurologists, urologists, gynecologists, or other specialists before receiving a diagnosis. By increasing research and awareness, the Foundation is working to improve the lives of those struggling with the condition.


News & Events

Rare Disease Day®: February 29th, 2016

Rare Disease Day® takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.  Learn more about the history of Rare Disease Day.

The 2016 global theme, “Patient Voice,” recognizes the crucial role that patients play in voicing their needs and in instigating change that improves their lives and the lives of their families and carers.

The National Organization for Rare Disorders (NORD) is the official Sponsor of Rare Disease Day in the United States alongside our sister organization, EURORDIS (The European Organization for Rare Disorders), which organizes the official international campaign.  Over 80 countries participated in Rare Disease Day 2015.  To learn what’s happening around the world, visit the global Rare Disease Day website at


Rare Disease Report Article Link:Dr. Jim Radke September 2015

NORD Issues Statement Applauding the Approval of Ensuring Access to linical Trials Act Washington, D.C.eptember 29,
The following statement was issued by Peter L. Saltonstall,
President and CEO of the National Organization for Rare Disorders (NORD), on
yesterday’s approval
of the Ensuring Access to Clinical Trials Act (S. 139) in the United States
House of Representatives.

The House of Representatives echoed the U.S.
Senate and showed its commitment to 1 in 10 Americans and their families by
passing the Ensuring Access to Clinical Trials Act (S.139).  By passing S. 139,
the House voted to remove income-related barriers to participation in clinical
trials and toward developing much-needed treatments for the 7,000 known rare
diseases, only a few hundred of which currently have FDA-approved

Today, 30 million people and their families
have added hope that their tremendous unmet medical needs are one step closer to
being addressed. Studying one rare disease can often lead to understanding of
other rare diseases, as well as understanding of more common diseases.

s the Ensuring Access to Clinical Trials Act
moves to the President’s desk, we close in on eliminating the challenges of rare
diseases and to stopping them from altering and ending the lives of too many
Americans much too soon.  NORD is proud to have supported this bill and to have
advocated for its passage with the Cystic Fibrosis Foundation, Muscular
Dystrophy Association, and many others in the rare disease community.

eter L. Saltonstall
President and CEO, National Organization for Rare
Disorders (NORD)

Read more about the Ensuring Access to Clinical Trials Act here.

State of Maryland Press Release September 10 2015

Six new research professorships have been endowed with $14.9
million in private donations and state funding, the
Department of Business and Economic Development
(DBED) announced Wednesday.
 The state funds were committed through the
Maryland E-Nnovation Initiative, which matches private donations to universities for basic and
applied research in scientific and technical fields.

The University of Maryland, College Park; University of Maryland
Baltimore; and Johns Hopkins University each received $2.1 million through the
program to be split among a pair of new professorships at each school.

“The discoveries made and students trained at Maryland
universities are among the greatest advantages we have as a state. These
endowments will further strengthen our higher education institutions and pave
the way for bold new research and innovation,” DBED Secretary Mike Gill said.
“We are proud to be partners in this endeavor with the world-renowned
universities we have here in our State.”

Johns Hopkins University

Reta Honey Hiers Professorship for Tarlov Cyst Disease from private donations  and MEI match from the State of Maryland.

The professorship will focus on the development of an integrated
Maryland Tarlov Cyst Initiative. It will advance research and clinical care relevant in the study and management
of Tarlov Cyst Disease, allowing the creation of a multidisciplinary center of

“At a time when our scientists and researchers face a
challenging funding landscape, we thank our state leaders for their vital
support and their recognition that research universities are where bold
discovery and innovation happens,” University President Ronald J. Daniels said.
“This initiative is a wonderful example of the possibilities ignited through
public and private partnership.

Added Provost Robert C. Lieberman: “These professorships are an
excellent example of the ways in which Johns Hopkins connects the laboratory
and the classroom to real-world issues affecting individuals, communities, and
society as a whole. These awards are an investment not only in our scholars but
also in improving the lives of people across Maryland, and the world.”​

MEI was created by the General Assembly in the 2014 legislative
session and was appropriated $8.5 million in FY2016.  MEI dollars can be
used to pay salaries of newly endowed department chairs, staff, and support
personnel in designated scientific and technical fields of study; fund related
research fellowships for graduate and undergraduate students; and purchase lab
equipment and other basic infrastructure and equipment. Individual institutions
cannot claim more than a quarter of available MEI funds, unless the program’s
allotment is not fully allocated.

Johns Hopkins University Press Release
September 10 2015

Two Johns Hopkins research professorships endowed by donations, state funding

State funds for endowed professorships in water and public health,
genetic medicine provided through Maryland E-Nnovation Initiative

Hub staff report / September 10, 2015

A new professorship in water and public health and one focused
on genetic medicine have been established at Johns Hopkins University with a
combination of private donations and state funding through the
Maryland E-Nnovation Initiative.

The two professorships, announced today, are among the first six positions at Maryland
universities supported by $14.9 million in funding
from the Maryland
Department of Business and Economic Development
. The E-Nnovation
initiative is intended to spur private donations to universities for basic and
applied research in scientific and technical fields by matching private
donations of at least $500,000.

"At a time when our scientists and researchers face a
challenging funding landscape, we thank our state leaders for their vital
support and their recognition that research universities are where bold
discovery and innovation happens," JHU President
Ronald J. Daniels said. "This
initiative is a wonderful example of the possibilities ignited through public
and private partnership."

The Reta Honey Hiers Professorship for Tarlov Cyst Disease was private funding and funding from the state program. The professorship will be held by Justin Caplan M.D.; Hal Dietz M.D., the Victor A. McKusick Professor of Genetics in the departments of Medicine, Pediatrics, and Molecular
Biology and Genetics at the
Johns Hopkins University School of Medicine is the Principal Investigator on Tarlov cyst research and is director of the William S.
Smilow Center for Marfan Syndrome Research; and a member of the
McKusick-Nathans Institute for Genetic Medicine. Tarlov cysts are debilitating
fluid-filled sacs that form within spinal nerves, most prevalently in the
sacral spine, causing life-altering pain and multi-systems symptomatology.

"These professorships are an excellent example of the ways
in which Johns Hopkins connects the laboratory and the classroom to real-world
issues affecting individuals, communities, and society as a whole," JHU
Robert C. Lieberman said. "These awards are an
investment not only in our scholars, but also in improving the lives of people
across Maryland, and the world."

Rare Disease Day is February 28, 2015. The National Organization for Rare Disorders (NORD) is sponsoring this day of awareness throughout the United States.EUORDIS (The European Organization for Rare Disorders is sponsoring this day of increased rare diseases awareness throughout Europe, as are many other countries around the world.
Ck the Rare Disease Day website at NORD for more information about the events in your area.
NORD is working with rare disease organization leaders to provide events at the State Capitol with legislators in 30 states.
The Tarlov Cyst Disease Foundation Executive Director is the State Leader for the State of TN Capitol Event, February 23, 2015. more later............

NORD Issues Statement on Departure of FDA Commissioner Margaret Hamburg

February 11, 2015The following
statement was issued today by Peter L. Saltonstall, President and CEO of NORD,
following the announcement by FDA Commissioner Margaret Hamburg, M.D., that she
will leave her job at the end of March:

Dr. Hamburg has
been an ardent and sincere supporter of the rare disease community and orphan
drug issues since becoming FDA Commissioner six years ago.  She has spoken at a
number of our meetings, most recently as keynoter at our Summit last October.  I
recall in particular her participation several years ago in one of our patient
forums when she demonstrated compassion and understanding for the special
challenges faced by patients with rare diseases.

Her tenure at
FDA has been positive for the rare disease community.  We at NORD have worked
more closely with FDA than ever before on issues of mutual

I wish Dr.
Hamburg well as she pursues new interests and look forward to continuing our
productive relationship with the FDA leadership.

For more
information about NORD, visit


Ring in the new year with new health coverage!
Sign up by Jan. 15 for coverage that starts Feb. 1 →

Make a New Year Resolution!
Make a difference in 2015 by joining us as a member and/or making a donation to
support the Foundation's efforts for Tarlov cyst patients around the world!THANK YOU!

See Advocacy Spotlight Interview /Focus on the Tarlov Cyst Disease Foundation
NORD Rare Diseases Breakthrough Summit Meeting
October 21-22, 2014
Reta Honey Hiers, RNC President/Executive Director Tarlov Cyst Disease Foundation
was in attendance at this important event as a Tarlov cyst patient advocate and as a Poster Presenter.

NORD’s Rare Diseases and Orphan Products Breakthrough Summit is the largest and most meaningful multistakeholder event of its kind - Powered by over 30 years of passion and serving the patients and families affected by rare diseases with new channels of answers, advocacy, advancements in research and access to life-transforming treatments.  The 2014 Breakthrough Summit is concentrated with innovative content and convenes the top leaders from the FDA, NIH, Industry, Patient Groups, Payers and Research Institutions to address the progress of rare disease diagnosis, genomics, drug development, patient engagement, product approvals, FDA oversight and market accessibility to orphan products.

Expecting an unprecedented turnout, the NORD 2014 Breakthrough Summit is crafted with multiple workshops and focused tracks of content to ensure high quality learning, networking and accessibility to thought leaders in the rare disease community.

  • Network, learn and benchmark from hundreds of industry counterparts, patient advocacy stakeholders, investors and FDA leadership to better align their thinking on complex issues
  • Gain insight into the strategic models for commercializing an orphan product
  • Learn strategies to stay ahead of the curve on the newest R&D advancements in rare diagnostics and treatment regimens


FAQs Regarding Medicare and the Affordable Care Act Marketplace

August 1, 2014

 This document is a compilation of the most frequently asked questions (FAQs) regarding the intersection of Medicare and the Marketplace. Unless otherwise noted, these FAQs have been cleared for use in response to public inquiries.

NORD Press Release March 18, 2014

NORD to Host Capitol Hill Briefing on "Rare Diseases in a Changing Healthcare Landscape"

The National Organization for Rare Disorders (NORD) will host a Capitol Hill briefing to address topics of particular interest to the rare disease community during this period of significant change in our nation's healthcare environment.

TOPIC:  Rare Diseases in a Changing Healthcare Landscape

WHEN:  Thursday, March 20, 2014: 2-3:30 p.m. ET

WHERE:  U.S. Capitol Visitors Center, Senate Room 212-10, Washington DC

Light refreshments will be provided.

Avalere Health VP to Speak on Rare Diseases and the ACA

Sandy Robinson, Vice President, Patient Access
Solutions, Avalere Health, will discuss patient access to therapies in a
changing landscape.

Three Representatives of NORD Member Organizations to Speak

Three representatives of NORD member organizations will discuss the impact of today's changing healthcare landscape on their patient communities.

Stephanie Bozarth, Board Vice President, The National MPS Society

Charles H. Mohan Jr., CEO/Executive Director, The United Mitochondrial Diseases Foundation

Richard Gordon Zyne, President/CEO of

Representative of BIO to Speak
Andrew Emmett, Managing Director for Science and
Regulatory Affairs, Biotechnology Industry Organization (BIO), will address the
industry perspective on access to orphan therapies.
Rare Disease Awareness Day is February 28,2014
The Tarlov Cyst Disease Foundation is a Partner with NORD in increasing awareness about Rare Diseases, especially Tarlov/perineural cysts. Please check the NORD(National Organization for Rare Disorders) website for information about events and efforts to increase awareness about Rare Diseases.
February 27, 2014 

NORD Opposes Congressman Camp’s Proposed Repeal of Orphan Drug Tax Credit, Says It Threatens Health of People with Rare Diseases

The following statement was issued today by
Peter L. Saltonstall, President and CEO, National Organization for Rare
Disorders (NORD):

Washington, DC, February 27, 2014--- A proposal made public by Rep. Dave Camp (R-Michigan) to amend the Internal Revenue Code of 1986 would repeal the Orphan Drug Tax Credit, one of the most successful tax credits ever passed by Congress, and one that has literally saved thousands of lives.

The National Organization for Rare Disorders (NORD) and its 450 plus members speak for patients everywhere, as well as for the medical and research communities, in opposing this repeal.Repeal of this tax credit would be an anti-patient, anti-public health policy.

Repeal of this provision would squelch medical research and innovation. Repeal would remove one of the major incentives to finding cures and treatments for some of the most challenging diseases.

The credit allows drug manufacturers to claim a tax credit of 50% of certain research costs for orphan drugs (drugs for diseases affecting 200,000 Americans or fewer). Due to this tax credit, as well as other incentives, more research is taking place for orphan drugs than ever before.  A third of the new drugs being approved by FDA each year are for orphan drugs that
benefit from the tax credit. Many if not most of these new drugs may never have
been developed if this tax incentive did not exist.

The vast majority of people with a rare disease patients pray every day for medical progress.  About 7,000 rare diseases affect 30 million Americans. Only a few hundred rare diseases have an approved drug.

People in this country with rare diseases deserve to be treated with respect and to retain the hope that, someday, a cure or better treatment will be developed for them.  Repealing this tax credit is a signal from the Congress that new treatments for people with rare diseases are
unimportant. NORD appeals to Congress to block this proposed repeal and to keep
the light of hope on for so many who desperately need life-saving

Orphan drugs don’t serve just patients with rare diseases. Patients with more common diseases have benefited from the advancements made in orphan drug development.  Access to these treatments has saved medical costs by keeping people healthy and out of the hospital and emergency rooms.  New treatments promise to save even more.  

We call on our colleagues in the medical, research and investment communities to express their strong opposition publicly and vehemently to this repeal proposal. 

NORD and the entire rare disease community urge Mr. Camp to reconsider the implications of this section in his proposal, and to keep patients and public health first.

October 11, 2013
NORD Press Release

More Than 100 Rare Disease Patient Organizations and Medical Experts
Join NORD in Urging Congress to End the Shutdown

Delays in Vital Medical Research and Development of Therapies Harm Children and Adults with Rare Diseases, According to National Organization for Rare

Washington, DC, Oct. 11, 2013-----In a strongly worded letter to Congressional leaders, the National Organization for Rare Disorders (NORD) today urged that the federal government be re-opened so that vital services such as medical research will not be delayed.* NOTE: You can read the letter by clicking on the blue bolded area at the end of this press release to read the letter and the list of those who signed the letter.  You will find the Tarlov Cyst Disease Foundation listed as one of the organizations who signed the letter sent to Congress.

More that 100 rare disease patient organizations and medical experts joined NORD in signing the letter, which was sent to Senate Majority and Minority Leaders Harry Reid and Mitch McConnell and to House
Speaker John Boehner and Minority Leader Nancy Pelosi.

"We are outraged that the Congress has permitted the federal government to shut down," NORD states in the letter, noting the importance of research at the National Institutes of Health (NIH) and review of
potential new therapies at the Food and Drug Administration (FDA) to rare disease patients and their families.

"When the government shuts down, we all lose confidence in its capacity to do its job," the letter continues.  "The people who invest in the development of new therapies must have confidence that the government is fully and efficiently functioning.  The researchers who are
developing new therapies for our diseases need confidence that the guidance
provided by government regulators will be knowledgeable and consistent."

"Medical research and FDA's review of potential new therapies are especially important to people with rare diseases," said NORD President and CEO Peter L. Saltonstall.  "Of the nearly 7,000 diseases considered rare in the U.S., only about 450 have FDA-approved treatments."

Most rare diseases are serious and many are life-threatening, he added.  In addition, about 2/3 of the patients with rare diseases are children.  For all of these reasons, Saltonstall said, the government shutdown is especially devastating for the rare disease

NORD is a nonprofit organization representing the nearly 30 million Americans who have rare diseases.  Groups signing the letter represent patients and families affected by rare diseases such as Rett syndrome, Marfan syndrome, and Behcet's disease.  Also signing the letter were 37 rare disease medical experts at universities and hospitals across the U.S.


October 6-9 2013
NORD Rare Disease Conference held in Bethesda MD
Reta Honey Hiers, RNC President/Executive Director of the Tarlov Cyst Disease Foundation attended this important stakeholders meeting/conference to represent the Foundation and the Tarlov cyst patient population and to give them a voice at the conference.
 ( More to come later.)
Health Insurance Marketplace 10/1/13 start date
NORD Press Release September 18, 2013
3rd Rare Diseases Conference
October 7-9, 2013

Deputy HHS Secretary, Investors and
      Entrepreneurs to Share Their Vision of Upcoming New Era in Health Care

   How Will the Affordable Care Act, Globalization and
      Current Market Trends Affect Development of Therapies for People with
      Rare Diseases?

     Washington DC,
      Sept. 18, 2013----One of the hottest trends in the pharmaceutical and
      biotechnology industries in recent years has been the development of
      orphan products or treatments for people with rare diseases. 

      industry-watchers are wondering how legislation such as the
Affordable Care
and the
FDA Safety and Innovation
of 2012 as well
      as current global market and investment trends may affect this rapidly
      growing field.


That topic will take center stage with an all-star platform of speakers Oct. 7-9 at the
      U.S. Conference on Rare Diseases and Orphan Products in Bethesda,
      MD.  Speakers will include Deputy HHS Secretary William Corr;
      entrepreneur David Scheer; and investors David Mott of New Enterprise
      Associates; Kris Jenner, Rock Springs Capital; Rajiv Kaul, Fidelity
      Investments; and Jean-Francois Formela, MD, Atlas Venture.


The conference will also provide an opportunity for approximately 100 representatives of
      rare disease patient organizations to share first-hand their needs and
      concerns.  In addition, senior Food and Drug Administration
      officials will lead sessions on FDA’s new patient-focused initiative,
      accelerated regulatory pathways, and other current topics.

We’ll be focusing on the new era in health care,” said Peter L. Saltonstall,
      president and CEO of the National Organization for Rare Disorders (NORD),
      a nonprofit organization representing the 30 million Americans with rare

  “There have been tremendous recent advances in research, regulatory practices, level of
      industry/investor interest, and related legislation.  We want to
      pull it all together and address the key question:  What does this
      mean to patients and to those seeking to develop innovative new
      therapies? And what can we learn from each other to ensure that greater
      progress is made in the future?”

   The conference is being sponsored by NORD and DIA (the Drug Information Association), in
      collaboration with FDA, NIH (the National Institutes of Health), and
      EURORDIS (Rare Diseases Europe).  It will take place at the Marriott
      North Hotel and Conference Center in Bethesda.  It is open to all,
online registration is available.

In addition to sessions on the investment environment, globalization, and research
      frontiers, other topics and speakers will include:

William Shrank, MD, of Harvard Medical School and former
      head of research at the Centers for Medicare and Medicaid Services Innovation
      Center on "The Health Care System of the Future"

Janet Woodcock, MD, Director of FDA's Center for Drug
      Evaluation and Research, on "FDA Initiatives on Orphan

A panel chaired by Pamela Gavin of NORD on "Assuring
      Patient Access to Treatments"

A panel chaired by Kevin Lee, PhD, of Pfizer on "How
      Industry and Patients Can Partner in Rare Disease"

A panel of representatives of health care payers on
      "How Payers Make Decisions Related to Orphan Products"

A panel chaired by John C. McKew, PhD, of NIH on "FDA
      and NIH Perspectives on Drug Repurposing"

 September is National Pain Awareness Month

September 4 – 7, 2013: Pain Week
The National Conference on Pain for Frontline Practitioners Las Vegas, NV
 September 13, 2013: For Grace’s 6th
Annual Women In Pain Conference
Los Angeles, CA

Getting Real: Transforming Hidden Truths Into Positive Action

September 25 – 26, 2013: 
Annual Pain and Migraine Therapeutics Summit
 Boston, MA

Drug Discovery, Clinical Development & Commercialization

 September 27, 2013: Pain Awareness Month Symposium
Silver Spring, MD
Format for Individualized Integrative Treatment, The
21st Century Model for Chronic Pain

August 2013 Press Announcement
Tarlov Cyst Institute
Dallas TX 
Is Now Open!

Dr. Frank Feigenbaum’s proven surgical technique is an integral part of The Tarlov Cyst Institute at Pine Creek which provides pain management, psychological, rehabilitative and nursing services for patients and families.

700+ patients from around the world with symptomatic Tarlov cysts and other
meningeal cyst types have been treated to date. Outcomes data from several hundred Tarlov cyst patients proves statistically significant improvement following treatment and is the largest Tarlov cyst outcomes study in the world.

9080 Harry Hines Blvd., Suite 220

Dallas, Texas 75234

Office: 214-351-8450

Fax: 214-351-8451

For more information, visit us at


on the Genzyme Boston Marathon Team

April 16 2013

We are fortunate that the runners in the Boston Marathon who are employees at
Genzyme or who are themselves rare disease patients who were running for NORD,
are all safe. This year, a total of 17 runners participated, some of the
individuals running completed the race and others did not, but all are safe. As
are the many patient partners that were at the race to cheer on the team. This
is the sixth consecutive year that the Genzyme Boston Marathon team has selected
NORD as its charity to support. Our hearts go out to all affected by this
terrible event.


February 2013
Dr. Anne Louise Oaklander inducted into the Rare Disease Researcher Hall of Fame!

*Tarlov Cyst Article in the NEJM
New England Journal of Medicine 2/28/13

Rare Disease Day at NIH (RDD@NIH)

On February 28, and March 1, 2013, the National Institutes of Health (NIH) will celebrate the sixth annual Rare Disease Day with a 2-day-long celebration and recognition of the various rare diseases research activities supported by the Office of Rare Diseases Research - National Center for Advancing Translational Sciences (NCATS), the NIH Clinical Center, other NIH Institutes and Centers; the Food and Drug Administration’s Office of Orphan Product Development; other Federal Government agencies; the National Organization for Rare Disorders; and the Genetic Alliance.


Rare Disease Awareness Day 

Rare Disease Day is an international advocacy day to
bring widespread recognition of rare diseases as a global health challenge. The
day is celebrated on the last day of February every year. In 2013, it will be
observed on February 28th.

The Tarlov Cyst Disease Foundation is a Partner with the
National Organization for Rare Disorders (NORD) in bringing recognition to the
challenges of rare diseases, such as Tarlov/perineural cysts, meningeal
diverticulum, meningoceles and pseudomeningoceles. To see the complete list of
NORD partners and to learn more about
Rare Disease Day February 28, 2013 visit the NORD website

What is a Rare Disease?

In the U.S.,any disease affecting fewer than 200,000 people is considered rare. This
definition comes from theOrphan Drug Act of 1983and is slightly different from
the definition used in Europe. There are nearly 7,000 rare diseases affecting
nearly 30 million Americans. In other words,
almost one in ten Americans are suffering from rare diseases.

Besides dealing with their specific medical problems, people with rare diseases struggle to get
a proper diagnosis, find information, and get treatment. The rarity of their
conditions makes medical research more difficult.

Patient-Centered Research:

A Conversation With Anne Louise Oaklander

Foundation Research Grant Announcement July 2012

A one-year Tarlov cyst research grant has been funded by the Tarlov Cyst Disease Foundation.
The one year grant has been implemented for the Foundation by NORD (National Organization for Rare Disorders).

The grant recipients are:
Principal Investigator: Kieran Murphy, MB, BCh, FRCPC, FSIR

Professor & Vice Chair, Medical Imaging
Deputy Chief, Medical Imaging, University Health Network,Mt Sinai Womens' Hospital
Director, International Medical affairs, University Health Network, Toronto Western Hospital
University of Toronto, Ontario, Canada


Chantal Morel, MD, FRCPC, FCCMG

Clinical and Metabolic Geneticist
Assistant Professor
University Health Network/ Mount Sinai Hospital
Toronto, Ontario, Canada

Jordan Lerner-Ellis, PhD, FACMG

Director, Laboratory for Advanced Molecular Diagnostics, Mount Sinai Hospital
Assistant Professor, University of Toronto
Department of Laboratory Medicine and Pathobiology
Toronto, Ontario, Canada

Aaron Goldman, PhD

Director, Research Project Portfolio
Clinical Genomics Center -- Gene Profiling Facility
Samuel Lunenfeld Research Institute
Mount Sinai Hospital
Toronto, Ontario, Canada

Josh Silver, MSc, CGC, CCGC

Certified Genetic Counselor
Fred A. Litwin Family Centre in Genetic Medicine
University Health Network / Mount Sinai Hospital
Toronto, Ontario, Canada

The Grant Focus is: Genetic Analysis of Patients with Tarlov Cyst Disease.

NORD (National Organization for Rare Disorders) Advocacy Alert Response to Supreme Court Decision 6/28/12

During the two-year debate on healthcare reform that led to the Affordable Care Act, NORD fought long and hard on behalf of rare disease patients and patient organizations for the following insurance reforms, which we considered essential:

  • elimination of discrimination based on pre-existing medical conditions
  • elimination of annual and lifetime insurance caps
  • elimination of the ability of insurers to discontinue coverage for people who received dire diagnoses
  • a public health insurance option to ensure that everyone could afford coverage
These key issues were all addressed in the Affordable Care Act. At this time, NORD will remain focused on assuring that these critically needed insurance reforms are fully implemented to help Americans affected by rare diseases access desperately needed medical care.

NORD Press Release

June 26 2012

Bipartisan Action Offers Rare Disease Patients Hope, NORD SaysWashington DC-----Millions of Americans who have serious rare diseases and no treatment may face a brighter future as a result of a bill approved today by the U.S. Senate, according to the National Organization for Rare Disorders (NORD).

"We salute the Senate for decisive and bipartisan action in approving the FDA Safety and Innovation Act (S. 3187)," said Peter L. Saltonstall, president and CEO of NORD. "And we applaud the House of Representatives for approving in a similarly bipartisan manner the House version of this bill last week."

Saltonstall said the legislation, which now goes to President Obama for his signature, provides broad-ranging and innovative measures to speed the development of safe and effective treatments for people who desperately need them.

"Only about 250 of the nearly 7,000 diseases considered rare in the U.S. have therapies," he said. "But treatments are desperately needed because most rare diseases are serious, many are life-threatening, and about two-thirds of the patients are children."

He added that "NORD and its members have worked long and hard to raise awareness of the challenges of living with rare diseases. We are grateful for the hard work and thoughtful deliberation that both the House and Senate have brought to this process."

Among others, some features of the bill that Saltonstall said were especially important to NORD and the rare disease patient community include:

·         enhancing accelerated patient access to new medical treatments

·         encouraging the development of Humanitarian Use Devices, or medical devices for small patient populations

·         providing for accelerated development of "breakthrough therapies" -- or ones that show early promise

·         enhanced consultation with rare disease medical experts and

·         a rare pediatric disease priority review voucher incentive program

The bill approved by the Senate today and the one approved by the House last week are the result of a process that has been underway for nearly two years and for which NORD has provided significant input, the reauthorization of the Prescription Drug User Fee Act (PDUFA). This legislation, which authorizes the Food and Drug Administration (FDA) to collect user fees from companies seeking to have products reviewed, must be reauthorized every five years.

We apologize for the inconvenience of July -December 2011 missing "News" items. They were lost in a transition to new webhost systems; we will be working to replace the missing information and add the new 2012 information soon.

Please be patient with us while we replace and update the content of this page of our website. Thank you!

July 5, 2011 Safety Alert: Voluntary Recall
Pain Medications Voluntarily Recalled for Mislabeling

Endo Pharmaceuticals, Inc., and Qualitest, a generic drug manufacturing subsidiary, issued voluntary recalls of certain lots of oxycodone with acetaminophen (Endocet), hydrocodone with acetaminophen (generic Vicodin) and butalbital, acetaminophen and caffeine (generic Fioricet)  because some bottles may contain different strength tablets, resulting in individuals taking more than or less than the intended doses of active ingredients.

According to the Food and Drug Administration’s (FDA) safety alert:

Qualitest Pharmaceuticals issued a voluntary nationwide recall at the retail level for

  • generic butalbital, acetaminophen and caffeine tablets USP, 50mg/325mg/40mg, and generic hydrocodone bitartrate and acetaminophen tablets, USP 7.5mg/500mg. One bottle of butalbital, acetaminophen and caffeine tablets was found incorrectly labeled with a hydrocodone bitartrate and acetaminophen tablets, USP 7.5mg/500mg, 1000 count label, printed with lot number C0590909B.

An accidental dosage of generic butalbital/acetaminophen/caffeine (Fioricet) could cause sedation, lightheadedness, dizziness, nausea, hypersensitivity, tremors, irritability and difficulty sleeping. Those who normally take generic hydrocodone bitartrate/acetaminophen (Vicodin) could experience withdrawal symptoms and worsening of pain due to missed doses of that opioid.

Endo Pharmaceuticals issued a voluntary nationwide consumer level recall for

  • Endocet (oxycodone/acetaminophen) USP tablets, 10 mg/325 mg 100 count bottles, NDC 60951-712-70, lot numbers 402415NV and 402426NV. One bottle from each lot was found to contain a higher acetaminophen dose. This can be recognized by their larger size, and different shape and markings.

Unintentional administration of tablets with increased acetaminophen content may result in liver toxicity, especially in people taking other acetaminophen-containing medications, people with liver dysfunction, or people who consume more than three alcoholic beverages a day.

If you are taking a generic version of Fioricet (butalbital products) or Vicodin (hydrocodone products) or the brand Endocet, please check your lot numbers immediately.

Lot numbers can be found on the side of the bottle. The medications look different from each other. The two Qualitest products are:

  • The white, round-shaped tablet with "2355" debossed on one side is the butalbital/acetaminophen/caffeine tablets (generic form of Fioricet).
  • The white with green specks, capsule-shaped tablet and debossed with "3594" on one side is the hydrocodone bitartrate/acetaminophen tablets (generic form of Vicodin).

The Endo brand formulations of oxycodone/acetaminophen (Endocet) are:

  • Capsule-shaped 10 mg/325 mg tablets with an "E712" marking on one side and a "10/325" marking on the other.
  • Oval-shaped 10 mg/650mg tablet with an "E797" marking on one side and "10" on the other.

Individuals who have these lots in their possession should:

  • Stop using the product and contact the manufacturer for disposal and reimbursement information.
    • Qualitest at (800) 444-4011
    • Endo’s agent Stericycle at (866) 723-2681
  • Notify the pharmacy where this medication was filled and report that you are in possession of an affected lot.
  • Notify the health care provider who writes your pain medicine prescriptions and ask for guidance.
  • Notify you insurance provider should a new prescription be written, so that it will be covered.
  • Contact the FDA and report if you have had any adverse reactions described above or trouble receiving replacement medication by:
    • Online using FDA's MedWatch Adverse Event Reporting program at;
    • Regular mail by using the postage-paid, pre-addressed Form FDA 3500 available at: Mail to address on the pre-addressed form;
    • Fax: (800) FDA-0178.

Consumers with questions may contact the manufacturers for more information.

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Little Progress Seen in Treating Chronic Pain -- June 23 2011
Senate Investigates Medtronic -- June 22 2011
NORD Posts RFPs for Tarlov Cyst Research Grant -- March 30 2011

NORD this week posted funding opportunities for 2011 through its Research Program. Funding is available this year for the study of Tarlov cysts via a Research Grant from the Tarlov Cyst Disease Foundation. The deadline for submission of abstracts and letters of intent is May 20, 2011. Questions may be directed to Read the RFPs.

Be a part of Tarlov Cyst Research NOW!
Please participate in the Patient Survey on the "Surveys & Research" page. The Foundation is  providing compiled data from the surveys to the Tarlov cyst researchers to whom funding has been provided.

March 2011
Time Magazine Publishes Health Feature Issue with Articles on Chronic Pain,29569,2053382,00.html

Then click on Health Special: Chronic Pain

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Safety Alert: Voluntary Recall
March 15, 2011

King Pharmaceuticals Announces a Voluntary Recall of Embeda Extended Release Capsules

King Pharmaceuticals Inc., a wholly owned subsidiary of Pfizer, voluntarily recalled all dosage forms of the extended release capsules of morphine sulfate with naltrexone hydrochloride (Embeda) from U.S. pharmaceutical wholesalers and retailers on March 10, 2011. This long-acting pain medication is used for the management of moderate to severe pain when a continuous, around-the-clock opioid analgesic is needed for an extended period of time.

The reason for the voluntary recall is that one of the pre-specified stability requirements was not met during routine testing. Available data currently suggests that requirement is not likely to cause adverse health consequences to individuals who are taking this pain reliever as prescribed by their health care provider. King reports that it will continue to monitor this issue. In the meantime this medication will not be available to the marketplace until the issue is resolved, which may take several months.

People with pain can continue taking their current Embeda prescription as directed by their health care provider and should not suddenly stop taking the medication to avoid withdrawal symptoms. Signs of withdrawal are: 

withdrawal symptoms. Signs of withdrawal are: 

Early symptoms Later Symptoms
Agitation; anxiety Abdominal cramping
Increased tearing or watery eyes Goose bumps
Muscle aches Nausea/vomiting
Rapid heart rate Small (dilated) pupils
Running nose Diarrhea
Trouble getting and staying asleep (insomnia)  

Individuals who have this medication in their possession should:

  • Notify the health care provider who writes your pain medicine prescriptions before your current prescription runs out. Talk about options for new pain medications or treatments.
  • Notify your insurance provider should a new prescription be written, so that it will be covered.
  • Contact the pharmacy where this medication was filled and report that you are in possession of this recalled medication. Ask for directions if you wish to turn in your recalled supply.
  • For any additional medical questions, please call the company at (800) 776-3637.
  • Contact the U.S. Food and Drug Administration (FDA) and report any negative experiences. Adverse reactions or quality problems experienced with the use of this product may be reported to the FDA's MedWatch Adverse Event Reporting program either online, by regular mail or by fax. Online:

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Rare Disease Day February 28, 2011
Goals and Plans with the National Organization for Rare Disorders (NORD)

This is the third annual observance of Rare Disease Day U.S. This year’s theme is “Rare but Equal” which will highlight “Rare Diseases and Health Inequalities.” The growth of this campaign in just a few short years has been remarkable, but we look to everyone to continue that momentum to make this year’s celebration the most successful yet. Throughout the Rare Disease Day website, you will find many ways you can get involved. Big picture goals this year include:

  • Creating a video encyclopedia of rare diseases
  • Extensive media coverage
  • Social networking blitz
  • Creating a Rare Disease Physician Database
  • Sharing patient stories, videos, photos, and blogs
  • Joining hands with others worldwide

Rare Disease Day is sponsored by NORD, and they have launched The New Website.

What can you do as an individual to increase awareness about Tarlov cysts?

Share your story. Send your story or a video to share with NORD.

  • Let the Newspapers & TV stations in your area know about Rare Disease Day and Tarlov cysts (call or write us for a press release)
  • Contact your mayor, congressman, or governor and request a Proclamation for Rare Disease Day in your city or state
  • Share it with your friends in your social network
  • Join together with others in your state. Let us know if you are willing to have your name shared in the database of patients from your state for future networking

Alone we are “rare”; TOGETHER we are strong!

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Safety Alert: Urgent Medical Device Correction and Recall
February 21, 2011
FDA Recalls Implantable Infusion Pumps and Refill Kits

FDA issued a class I recall of Medtronic’s SynchroMed II and SynchroMed EL implantable infusion pumps and refills kits. Class I recalls are the most serious type of recall and involve situations in which there is a reasonable probability that use of the recalled product will cause serious adverse health consequences or death. These pumps and refill kits have been recalled because pocket fills - the unintended injection of drugs or fluids into the tissue under the skin at the pump pocket site - have occurred and may result in patient harm, serious injury, and/or death due to drug overdose or underdose.

Medtronic, which manufactures these pumps for the long-term infusion of pain, cancer treatment and anti-spasm medications, issued a “Urgent: Medical Device Correction” letter to health care providers on January 14, 2011. The letter reminded health care providers to check needle placement within the pump septum during the drug refill procedure —  the needle must be inserted through the refill septum until it has reached the needle stop in the pump reservoir. Health care providers should review the signs and symptoms of drug overdose, underdose, and withdrawal with their patients and caregivers at EVERY refill.

The manuals for these pump and refill kits do include warnings related to the potential for improper injection; however, Medtronic is currently updating the labeling for the SynchroMed II and EL pumps and associated refill kits with more information for avoiding pocket fills and managing patients as recommended in the January 2011 letter to health care professionals.

The recalled products were manufactured from June 1998 to January 2003 and distributed from April 1999 to January 2011. They are:

  • SynchroMed II (Model No: 8637)
  • SynchroMed EL (Model No: 8626 and 8627)
  • Refill Kits (Model No: 8551, 8555, 8561, 8562, 8564, 8565, and 8566)

For individuals who have an implantable infusion pump, the manufacturer’s make and model number can be found on your medical device information card. If you are have either a SyndroMed II or EL implantable infusion pump model listed above, notify the health care provider who is managing your infusion care for further instructions.

  • Contact the FDA and report if you have had any adverse reactions such as pain, swelling or redness at the injection/refill site after a recent pump reservoir refill; loss of pain or spasm control; or excessive sleepiness, difficulty breathing, nausea, vomiting or itching. Adverse reactions or quality problems experienced with the use of this product should be reported to the FDA's MedWatch Adverse Event Reporting program online at; by regular mail to 5600 Fishers Lane, Rockville, MD 20852-9787; or by fax to (800) FDA-0178.

Consumers with questions may contact Medtronic Patient Services at (800) 510-6735, Monday - Friday, 8 a.m. to 5 p.m., central time for more information.

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January 2011
FDA Sets Limit on Acetaminophen in Combo Pain Meds

Source: January 13, 2011 Med Page Today

The FDA says makers of combination prescription medications can include no more than 325 mg of acetaminophen in each tablet or capsule.

The decision to restrict acetaminophen content was driven by the risk of liver toxicity from the products, which account for about 200 million prescriptions in the U.S. each year, the FDA said a press briefing.

To that end, manufacturers of Rx products containing acetaminophen - usually opioids like codeine, oxycodone, and hydrocodone - will be required to include a boxed warning on the risk of severe liver injury in product labeling.

A 2007 CDC study estimated that about 1,600 cases of acute liver failure occur each year, although the CDC did not provide information about the cause of those cases.

But another study attributed 56,000 emergency room visits, 26,000 hospitalizations, and 458 deaths each year over a nine-year period to acetaminophen-related overdoses.

"Overdoses from prescription products containing acetaminophen account for nearly half of all cases of acetaminophen-related liver failure in the United States, many of which result in liver transplant or death," said Gerald Dal Pan, MD, director of the Office of Surveillance and Epidemiology in FDA's Center for Drug Evaluation and Research (CDER), on a conference call with reporters.

The FDA will also require labels to include a regular warning on the potential for allergic reactions, such as swelling of the face, mouth, and throat, difficulty breathing, itching, or rash.

The changes, which will be phased in over three years, will not affect over-the-counter medications that contain acetaminophen -- which already contain a warning about liver injury -- and is not expected to create a shortage of pain medication, said Sandra Kweder, MD, deputy director of the Office of New Drugs in CDER, on the call.

She added that combination acetaminophen products currently contain up to 750 mg of acetaminophen, but that products containing the lower doses of acetaminophen are effective at treating pain.

As the lower limit is implemented, Kweder said, patients need not stop taking combination pain medications containing acetaminophen but should seek direction from a healthcare professional.

"When taken as directed, acetaminophen is a very safe product," she said. "Our goal is to make it even safer."

The FDA noted that most cases of severe acetaminophen-related liver injury occur when patients take multiple products containing the drug, exceed the current maximum dose of 4,000 mg within a 24-hour period, or drink alcohol while using the products.

The action comes after an FDA advisory panel recommended the changes in June 2009.

Kweder said the FDA is still considering options for reducing the risk of liver injury from over-the-counter medications, which can contain a maximum of 500 mg of acetaminophen per dosage unit or 650 mg for extended-release products.

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December 2010
Chronic Pain Affects Memory, Concentration

"Characteristics of Cognitive Functions in Patients with Chronic Spinal Pain" is running in the journal Neuroscience and Behavioral Physiology (2010 Dec 11) and was conducted by researchers at Department of Nervous Diseases, Therapeutic Faculty, I. M. Sechenov Moscow Medical Academy, Moscow, Russia,

 New research shows people who live with chronic spinal pain (for more than three months) experience difficulty with mental concentration and problems with remembering information.

Researchers placed a total of 64 patients with musculoskeletal pain syndromes in the lumbosacral area into two age groups: 30-50 years (41 patients) and 51-60 years (23 patients), according to an abstract published on The reference group consisted of 20 healthy volunteers comparable in terms of gender, age, and level of education. The patients underwent neurological, neuro-orthopedic, clinical-pathopsychological, and neuropsychological investigations, the abstract noted.

Among the results, according to the abstract:

  • Complaints of difficulty with mental concentration were present in 17.3 percent of patients, and problems with remembering information in 20.2 percent of patients.
  • As compared with healthy subjects, both groups of patients had significantly worse performance in tests assessing memory (delayed reproduction in the 12-word test), attention, mental flexibility and visuomotor coordination (the sequential number-letter combination test, digit symbol substitution test, and, in younger patients, the forward and backward number series repetition test).
  • Cognitive functions in younger patients were affected by the sensory-discriminant (intensity) and affective-motivational (negative emotions, particularly anxiety) characteristics of pain.
  • Cognitive functions in older patients were affected by the affective-motivational (anxiety, level of psychoemotional distress) and cognitive (level of catastrophization) components of pain.

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Article in Journal of Pain September 2010
Hiding in Plain Sight: A case of Tarlov Perineural Cysts

The article is co-authored by Anne Louise Oaklander, M.D., Ph.D. Harvard/Mass. General, Donlin M. Long, M.D., Ph.D., and Richard North, M.D, Johns Hopkins and the Tarlov Cyst Disease Foundation President, Reta Honey Hiers, R.N.C.

We believe this article will increase awareness in the medical community about the diagnosis and treatment of Tarlov cysts by improved understanding of the pathology and symptomatology related to this medical condition.

The Journal of Pain publishes original articles related to all aspects of pain, including clinical and basic research,patient care, education, and health policy. The mission of the Journal is to improve the care of patients in pain. It is read by physicians, nurses, physical therapists, and other health care professionals working in fields related to pain and pain management. Articles selected for publication in the journal are most commonly reports of original clinical research.

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13th World Congress on Pain in Montreal Canada
August 29-September 2 2010

A Tarlov cyst “poster” (a common type of visual, scientific presentation made at medical conferences) was presented at the 13th World Congress on Pain August 30 – Sept. 2, in Montreal. The title of the poster presentation is: Epidemiological Study of Tarlov Nerve-Root Cysts (TC) An Overlooked, Treatable Cause of Chronic Pain and Dysfunction

The poster was prepared by Anne Louise Oaklander, M.D. Ph.D., Priya Devan, research assistant to Anne Louise Oaklander, and Reta Honey Hiers, RNC, President of the Tarlov Cyst Disease Foundation. Thousands of physicians from more than 85 countries in the  world viewed this information and have a copy of it in the book prepared for attendees at this international conference. This is partly a compilation of Dr. Oaklander’s research, and includes patient surveys, in which many of you have participated . Thank you for your help and support in the research process through contribution of your information and donations. If you are a Tarlov cyst patient and have not yet participated in the Patient Survey, please do so today. It is located on the "Surveys & Research" page of the website.

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Sept.-Nov. 2010 News from NORD
Reminding Physicians to Watch for Zebras

Over the next several weeks, NORD will be distributing literature from its Member Organizations at the following major medical conferences to encourage timely diagnosis and raise awareness of rare diseases among physicians and other medical professionals: American Academy of Family Physicians, Denver, Sept. 30-Oct. 2; American Academy of Pediatrics, San Francisco, Oct. 2-5; American Society of Human Genetics, Washington DC, Nov. 3-5; American Public Health Association, Denver, Nov. 6-10.

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September 2010
Health Care Professionals and Advocates from 84 Countries Issued Declaration that Access to Pain Management is a Fundamental Human Right

Patients' Bill of Rights part of inaugural summit focusing on inadequate pain policies worldwide

MONTREAL, Sept. 3  2010 /PRNewswire/ -- Health care providers and researchers in the field of pain management are calling for governments worldwide to recognize the rights of people to the access of reasonable care for acute and chronic pain.

At the first annual International Pain Summit, delegates from 84 countries issued a declaration asserting that access to pain management is a fundamental human right. The Declaration of Montreal emphasizes that management of acute pain is inadequate for more than 50 percent of people in developed countries and 90 percent of people in developing countries, while chronic non-cancer pain, which can be triggered by surgery, injury or disease, occurs in at least one in five people worldwide.

As part of the 13th World Congress on Pain in Montreal, which took place August 29-September 2 2010, the International Pain Summit, hosted by the International Association for the Study of Pain (IASP), was created to call attention to inadequate knowledge of pain management techniques by most medical workers and the lack of national policies in both the developed and developing world regarding the seriousness of pain as a global health problem. The summit is the first global meeting about the crucial aspects of pain management, with a focus on advocacy and assistance for all countries to develop national pain strategies.

"The World Health Organization estimates that 5 billion people live in countries with low or no access to controlled medicines and have insufficient access to treatment for moderate to severe pain," said Michael Cousins, MD, chair of the Summit's steering committee and professor and director of the Pain Management Research Institute in Sydney. "With this declaration, it is our goal to ensure that countries have the knowledge and support to establish laws, policies and systems that will help those in pain receive fully adequate pain management assistance."

The summit delegates, as part of their declaration of basic rights, will also call for the assessment of pain to be included as the fifth vital sign, thereby ensuring that health care providers accurately recognize and assess all factors affecting a person's health at any one time.

In its "Declaration that Access to Pain Management is a Fundamental Human Right," delegates to the inaugural International Pain Summit will propose that all people:

  1. Have a right to the access to pain management without discrimination.
  2. Have a right to be both informed about how their pain can be assessed through the recording of a fifth vital sign, and informed about the possibilities for treatment.
  3. Have a right to access an appropriate range of effective pain management strategies supported by policies and procedures appropriate for the particular setting of health care and the health professionals employing them.
  4. Have a right to access appropriate medicines, including but not limited to opioids, and to access health professionals skilled in the use of such medicines.
  5. Have a right to assessment and treatment by an appropriately educated and trained interdisciplinary team at all levels of care.
  6. Have the right to a health policy framework that, in governing pain relief treatment in the social, economic and regulatory environment, is compassionate, empathetic and well-informed.
  7. Have a right to access best-practice, non-medication methods of pain management (ranging from relaxation and physiotherapy methods to more complex cognitive behavioral treatment) and to specialist-performed interventional methods, depending upon resources of the country.
  8. Have a right to be recognized as having a disease entity, requiring access to management akin to other chronic diseases.

Additionally, the declaration proposes that:

  1. Health care professionals have an obligation to offer a patient in pain the management that would be offered by a reasonably careful and competent health care professional.
  2. Governments and all health care institutions establish laws, policies and systems that will help promote – not inhibit – access to pain management.

"This declaration signifies a historic day to advocates of pain management as well as those who suffer from chronic pain worldwide," said Dr. G.F. Gebhart, PhD, president of the IASP and professor and director of the Center for Pain Research at the University of Pittsburgh School of Medicine. "It is our hope that, with this declaration, all countries will begin to develop policies and regulations regarding widespread access to pain management regardless of gender, race, age and other factors."

The declaration was prepared with due regard to current general circumstances and modes of health care delivery in the developed and developing world. The IASP believes it is the responsibility of governments; those involved at every level of health care administration, as well as health professionals to update articles of its declaration as new frameworks for pain management are developed. However, failure to offer adequate pain management is a breach of a patient's human rights.

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September 9, 2010
FDA Alert: New Warnings for Using Gadolinium-based Contrast Agents in Patients with Kidney Dysfunction

The FDA is requiring changes in the professional labeling for gadolinium-based contrast agents (GBCAs) to minimize the risk of nephrogenic systemic fibrosis (NSF), a rare, but serious, condition associated with the use of GBCAs in certain patients with kidney dysfunction.

NSF has not been reported in patients with normal kidney function. Patients at greatest risk for developing NSF after receiving GBCAs are those with impaired elimination of the drug, including patients with acute kidney injury or chronic, severe kidney disease. Some toxicity symptoms that may occur as side effects are: skin lesions, orange color to skin, and severe muscle weakness.

GBCAs are intravenous drugs used in diagnostic imaging procedures to enhance the quality of magnetic resonance imaging (MRI) or magnetic resonance angiography.

The FDA recommends health care professionals should screen patients prior to administration of a GBCA to identify those with acute kidney injury or chronic, severe, kidney disease.

Learn more

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May 2010 FDA Approves Intranasal NSAID

WASHINGTON -- The FDA approved ketorolac tromethamine (Sprix), a short-term use, intranasal painkiller for moderate to moderately severe pain, for use in patients who require an analgesic at the opioid level.

The drug is an inhaled form of a non-narcotic, nonsteroidal anti-inflammatory injectable analgesic for use in ambulatory patients.

Drug approval was based on two phase III, placebo-controlled clinical trials of a combined 621 adult abdominal (n=300) and orthopedic (n=321) surgery patients.

Patients reported a statistically significant reduction in summed pain intensity difference over 48 hours following surgery in ketorolac tromethamine over placebo. The study also found patients required 26% to 36% less morphine than those prescribed placebo.

Ketorolac tromethamine, as a spray or injectable, should not be used for more than five days in a row.

The drug is contraindicated in patients with suspected or confirmed cerebrovascular bleeding, hemorrhagic diathesis, or incomplete hemostasis, or those with high risks of bleeding. It is also contraindicated in patients with peptic ulcer disease or a history of gastrointestinal bleeding, patients requiring treatment for perioperative pain in coronary artery bypass graft surgery, those with advanced renal impairment, and those at risk for renal failure due to volume depletion.

The nasal spray should not be used with probenecid or pentoxifylline.

Side effects include mild nasal discomfort, new onset or worsening of hypertension, fluid retention, edema, oliguria, elevation of serum urea nitrogen and creatinine, exfoliative dermatitis, Stevens-Johnson syndrome, toxic epidermal necrolysis, and rhinalgia.

The drug is manufactured by Roxro Pharma of Menlo Park, Calif

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April 2010
Increased risk of suicide confirmed in use of Gabapentin/Neurontin and other anti-convulsants
2010 Tarlov Cyst Research Update

We are very excited and pleased to announce that Dr. Anne Louise Oaklander’s Tarlov cyst research will continue through December 2010! Dr. Oaklander is integrating compiled data from the Patient Surveys on the Foundation’s website into her research. If you have not yet participated in the survey, please do so and remind others to participate. This survey data is being used for Tarlov cyst research. You can be a part of Tarlov cyst research NOW!

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December 2009 Meeting at the National Institutes of Health (NIH) Office of Rare Disease Research (ORDR)

2009 began with the implementation of the Foundation’s Tarlov research grant contract and ended with the incredible opportunity to provide a meeting at the NIH Office of Rare Disease Research in Washington, DC. This meeting was an extraordinary collaboration and communication between researchers and scientists, staff at the NIH National Institute of Neurological Disorders & Strokes (NINDS), Office or Rare Disease Research (ORDR), physicians who are knowledgeable about and have expertise in treating Tarlov cysts in the U.S., the recipient of the Foundation’s Tarlov cyst research grant, Anne Louise Oaklander, M.D., PhD., and Tarlov Cyst Disease Foundation leadership. The results of this meeting provided new beginnings in 2010 for future partnerships in Tarlov cyst research and education. As more plans are finalized, we look forward to updating you throughout this year and the next about exciting opportunities made possible by this meeting.

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Gabapentin Studies for Off-Label Uses Cooked? (CME/CE)
November 2009
Primary outcome measures were apparently a moving target in many company-sponsored studies of gabapentin (Neurontin) for off-label uses such as neuropathic pain and bipolar disorder, researchers have suggested. Eight of 12 studies of gabapentin... full story

Tarlov Cyst Research Information

Tarlov cyst researcher, Anne Louise Oaklander, M.D., PhD., has shared the following initial research project goals.

Tarlov Cyst Research: Specific Goals

  • Identify patients with Tarlov cysts utilizing large patient databases
  • Compare identified TC patients to those of the population at large to identify demographics (gender, age, race) and medical co-morbidities associated with Tarlov cysts
  • Test several hypotheses including gender association, parity, connective tissue disorders, history of back injury/trauma, and infection by viruses that damage spinal sensory ganglia
  • Determine prevalence of all medical complaints and illnesses of TC patients and compare with an age and sex matched control cohort with normal lumbosacral imaging.
  • Examine the disease history within the year prior to radiologic discovery of the Tarlov cysts
  • Undertake an unbiased case-control study comparing patients with symptomatic Tarlov cysts and asymptomatic Tarlov cysts
  • >Investigate whether specific radiological features of Tarlov cysts correlate with the symptoms present. (Outcome variables will comprise cyst location, maximum visualized diameter, absence or presence of free communication with cerebrospinal fluid (CSF) as determined from flow study or comparing T2 MRI signal in cyst fluid and CSF).
  • Measure correlations between radiological variables and the presence of neurogenic bladder or bowel, chronic leg pain paresthesias, chronic pelvic or perineal pain, low back pain,(and sensory dermatomes
  • Find radiological markers for increased risk of symptom development to assist in identifying patients who merit closer observation or those who should be considered for treatment of existing symptoms
  • Determine if Tarlov cyst patients’ neuropathic pain is less recognized and treated than neuropathic pain associated with better recognized syndromes such as diabetic neuropathy or postherpetic neuralgia
  • Identify cohorts of patients with chronic nerve pain and compare what proportion have had their pain treated by any measure
  • Acquire preliminary information concerning efficacy of specific treatments

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February 28, 2009 was Rare Disease Day in the United States and Europe

This February 28, 2009, thousands of patients, their families, medical professionals, researchers, educators and others will join in the observance of the first Rare Disease Day in the United States.

 Governors in Alabama, Connecticut, Florida, verdana, Iowa, Kentucky, Louisiana, Maine, Maryland, Massachusetts, Michigan, Missouri, Montana, Nebraska, New Hampshire, New York, Oklahoma, Oregon, Pennsylvania, South Carolina,South Dakota, Tennessee, Texas, Virginia and West Virginia issued Proclamations that February 28, 2009 is Rare Disease Day. This day is an opportunity to increase awareness about rare diseases and the difficulties encountered by those who are diagnosed with a rare disease.

 Rare Disease Day was observed for the first time February 29, 2008 in Europe and was a great success. This year, more than 100 rare disease organizations in the United States are partnering with the National Organization of Rare Disorders (NORD) and with the European Organization for Rare Diseases (EUORDIS) to improve awareness of rare diseases throughout the U.S. and Europe.

 In the U.S., a rare disease is defined as one that affects fewer than 200,000 Americans. Yet since there are nearly 7,000 such diseases, approximately 30 million Americans suffer from a rare disease, according to the National Institutes of Health (NIH).

 People with rare diseases experience certain challenges as a result of the fact that their diseases are so rare.  These include:

  • Difficulty in obtaining a timely, accurate diagnosis
  • Limited treatment options
  • Difficulty in finding physicians or treatment centers with knowledge and expertise
  • Treatments that are often more expensive than those for common diseases
    Reimbursement issues related to private insurance, Medicare and Medicaid
  • A sense of isolation and hopelessness 

Rare diseases can affect the entire family of an individual patient. Caregivers often endure ongoing stress and isolation managing the medical and financial issues that arise.

 One example of a rare disease that most physicians and the public have never heard of is Tarlov cyst disease.  Tarlov cysts (TC) are also known as perineural/perineurial, or sacral nerve root cysts. They are spinal fluid filled cysts that form off the nerve root sheaths and can cause intense nerve pain, since the cyst walls contain spinal cord nerves. They are located most prevalently in the sacral section of the spine between the lumbar area and tailbone (coccyx). The most common symptoms that patients with Tarlov cysts experience are pain in the lower back and in the buttocks, legs and feet, weakness and/or cramping in legs and feet, abnormal sensations in the legs and feet (paresthesias), pain sitting or standing for even short periods of time, bowel and/or bladder dysfunction, headaches (due to the changes in the spinal fluid pressure), sciatica, and vaginal, scrotal, rectal, pelvic and abdominal pain. When a patient describes this group of symptoms, a lumbar-sacral scan should be ordered to rule out the presence of Tarlov cysts.

 Tarlov cyst disease is often misdiagnosed/undiagnosed by the medical community, due to lack of education or understanding about the pathology of symptomatic Tarlov cysts, failure to order MRI of the sacrum, and because of the many other body systems that can be affected by the spinal cord nerves. Only a handful of physicians in the world are knowledgeable about and willing to treat Tarlov cysts. To learn more about Tarlov cyst disease, please visit the Tarlov Cyst Disease Foundation’s website at The Foundation provided funding for Tarlov cyst research this year, and Anne Louise Oaklander, M.D., Ph.D., at Harvard Medical School and Massachusetts General Hospital in Boston, has received the initial research grant.

 Other important things to remember about rare diseases are:

  • Many rare diseases are very serious, life altering or life-threatening.
  • Most rare diseases have no effective treatment or cure.
  • Since many rare diseases are genetic, about half of the people affected by rare diseases in the U.S. are children.
  • Research on rare diseases often adds significantly to the general   understanding of more common diseases. 

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Research Announcement
November 2008

The National Organization for Rare Disorders’ Medical Advisory Committee has announced that Anne Louise Oaklander, M.D., Ph.D will receive the Tarlov Cyst Disease Foundation’s grant for Tarlov cyst research.

Dr. Oaklander is an attending physician in Neurology and Neuropathology at the Massachusetts General Hospital and Associate Professor of Neurology at Harvard Medical School. She directs the Nerve Injury Unit, which she founded in 2002 at Massachusetts General Hospital, following her fellowships at Johns Hopkins. Dr. Oaklander works in the emerging field of nerve injury and neuropathic pain and is internationally recognized for her research, as profiled in Science and New Yorker magazines as well as in print and broadcast news media.

We are excited about Dr. Oaklander's research with the Foundation's grant and hope that her project will put us one step closer to improved diagnosis and treatment outcomes for Tarlov Cyst Disease. Dr. Oaklander’s publications should help educate the medical community and public alike about the diagnosis and treatment of Tarlov cysts.

Tarlov Cyst Disease Foundation Board of Directors

The Researcher Selection Process:

Requests for research proposals were sent out in March 2008. 

Initial Research Proposals were received in May  2008.

NORD's Medical Advisory Committee extended invitations for final proposals from the research grant applicants July 2008. 

Full Research proposals were received September 8, 2008.

Medical Advisory Committee  selected the researcher/grantee November 2008!

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Request for Proposals for Tarlov Cyst Research!
March 2008

The Tarlov Cyst Disease Foundation has provided a grant for restricted Tarlov cyst research. The term “restricted,” means that the grant is exclusively for researching Tarlov cysts. The Tarlov Cyst Disease Foundation is working with the National Organization for Rare Disorders (NORD) to determine the researcher,  provide the grant and oversee the research process.

The process to determine the researcher/grantee began in March 2008 with NORD’s international request for proposals (RFP) and their existing database of researchers. The RFPs will be placed in medical and scientific journals and newsletters throughout the world. Individual mailings will be sent to academic researchers. Applicants may submit research proposals to NORD, no later than May 9 and apply for the grant the Foundation has provided. To read more about the research grant, visit the NORD website at : .The NORD Medical Advisory Committee and the NORD Board of Directors will determine the final applicant, and the “grantee”/researcher will be announced on or around November 7, 2008. The grant is for a period of one year, and the researcher will submit the research results for publication to the scientific and medical community. The results of the research could be used to obtain further funding from NIH (National Institutes of Health) or other funding agencies.

Providing this restricted Tarlov cyst research grant was a long-term dream that the Tarlov Cyst Disease Foundation members and donors helped to make possible. This is a significant initial step in the process to have a researcher focus on Tarlov cysts. The Foundation will continue seeking grants and more funding for research and education in the future; this is just the beginning! 

If you wish to be part of the efforts provided by the Foundation, on behalf of all those around the world who live with the pain of symptomatic Tarlov cysts, contact the Foundation by writing to .You may also become a Foundation member or donor by visiting the “Join Us” page on this website.

We invite all Tarlov cyst patients to participate in the Patient Survey on the “Research & Survey” page of this website. These surveys will be provided to the grantee/researcher selected, so you will be part of the groundbreaking research that will provide solutions for the future!


March 2008

Tarlov Cyst Disease Foundation Submits Congressional Grant Proposal Requesting Funding for Tarlov Cyst Research and Education

For the past two years, the Tarlov Cyst Disease Foundation has been working with the Honorable Congressman John J. Duncan, Jr.'s Tennessee and Washington offices to submit  proposals to congress for appropriation of funding for Tarlov cyst research and education. The proposals were submitted in March 2007 and March 2008. 

The Foundation had the assistance of the National Organization for Rare Disorders (NORD), the National Institutes of Health (NIH), The University of Tennessee Brain & Spine Institute and other individuals to create and support the proposal and the Foundation. The Labor, Health and Human Services, and Education Sub-Committee received, reviewed, and approved the initial proposal at the end of summer 2007.  It was sent to the Appropriations Committee for their final approval, and if approved, for inclusion in the 2008 Congressional budget, after passing the full vote of Congress. The results of the 2009 Fiscal year proposal will not be announced until late 2009.

 The Labor, Health and Human Services, and Education Sub-Committee membership represents 13 states with 17 members. Constituents, who have Tarlov cysts and who live in those states, contacted the committee members with the assistance of the Foundation. These Tarlov cyst patients are a part of the Foundation's Congressional Proposal committee, working closely with the Foundation's Board of Directors, to share important information about the proposal and Tarlov cyst disease, and to request their Congressional representatives' support of the proposal.

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Spring 2007

Tarlov Cyst Disease Foundation Hosts International Teleconference with Baxter International, Inc. and Physicians Who Treat Tarlov Cyst Patients

An incredible meeting of physicians to discuss treatments for patients with Tarlov cysts occurred in the spring  of 2007.The Foundation arranged the meeting with Baxter International representatives from the Medical Affairs and Bio-Surgery Science divisions, in an unprecedented opportunity to discuss the use of the product Tisseel/Tissucol in surgical procedures, and in the procedure for aspiration and fibrin glue injection. The Tarlov Cyst Disease Foundation's President moderated the teleconference. Physicians who participated were from France, Italy and across the United States from the east coast to the west coast. This initial communication provided an opportunity for the physicians to share their treatment procedures for Tarlov cysts, and discuss possibilities for the future. There was a collegial harmony during the teleconference as they discussed their desire to share information with each other and to continue collaboration in the future. The teleconference was very beneficial as a communication between the company that manufactures Tisseel/Tissucol and the physicians who are using it to treat Tarlov cysts. The ultimate beneficiaries of this Teleconference are Tarlov cyst patients internationally.

Key summary points from the Teleconference:

  • There was consensus among the neurosurgeons, interventional neuroradiologist, neurologist, orthopedic surgeon, and pain management specialist that changes in cerebrospinal fluid (CSF) pressure are a critical factor in the cause of Tarlov cysts and in the treatment.
    It was discussed that a possible treatment consideration should be made, regarding a combination of aspiration and fibrin glue injection procedure and a shunt placement, to prevent future cyst development due to increase in CSF pressure. This was discussed due to new cyst development or refilling of cyst, that has occurred after surgery and aspiration and fibrin glue injection procedures.
    The physicians were in agreement to share their data from patient treatments and outcomes in order to provide a scientific research analysis in the future. The Foundation will facilitate this project with a research company.

  • Baxter International representatives made the following key points regarding the physiology of the product Tisseel/Tissucol:
    * The FDA and Baxter recommends that Tisseel/Tissucol not be used more frequently than every 12 months in the same patient, due to the increasing possibility of an allergic reaction to the product. Tisseel has been used for 28 years in surgical procedures for heart, pancreas, liver and other organ surgeries as a tissue sealant.
    * Tisseel is a biodegradable product that is physiologically designed to absorb in 7-14 days. Baxter International, Inc. has not tested the use of Tisseel in closed cavities such as inside a cyst, nor in a closed cavity containing cerebrospinal fluid.
    * Tisseel, a tissue sealant product, physiologically reaches 70% of its clot forming potential in 3 minutes, and it reaches its full potential in 2 hours.
    * There is nothing in the physiology of Tisseel that would be affected by the patient taking Non-Steroidal Anti-Inflammatory Drugs (NSAID), before or after the procedure using Tisseel.

Fostering communication and collaboration within the medical community is one of the Tarlov Cyst Disease Foundation's specific purposes and objectives. We believe the teleconference is a beginning of improved understanding between physicians willing to share their experiences. It is the Tarlov Cyst Disease Foundation's plan to provide a mechanism for future research endeavors with clinical investigators, industries that provide pharmaceutical products and devices, academic research centers, and others interested in scientific data collection related to Tarlov cyst patients and their treatments and outcomes.

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