Mabel Larson

‘MEET MABEL!’

Our daughter, Mabel, is 18 months old.  Mabel has all the symptoms of a syndrome or disease yet everything we find in her blood work is so ‘rare’ that we are left without a solid answer.  Our hope is that research can catch up with Mabel’s symptoms faster than they progress.  Sadly, it is unlikely.

Mabel has vision and hearing impairments, a seizure disorder, severe hypotonia (she doesn’t sit or roll over, etc.), has poor coordination, eats by g-tube, has delayed gastric emptying, severe allergies to milk and soy, along with many other symptoms.  We see up to 6 specialists and have 6 therapists on her care team as well.  Currently, we are treating her symptoms and are waiting for more test results that will hopefully guide us to an answer.

Rare disease affects our entire family.  We have two older children and our greatest fear is that we may not find an answer to Mabel’s mystery and they will live with unknowns in their own lives.

Mabel is such a gift.  She is the sweetest, gentlest, most smiley girl you will ever see.  She brings so much joy into our lives and the lives of everyone who sees her.  Right now, the statistic stands that 40% of children who have symptoms of a syndrome are undiagnosed.  We fall into this category for now.  Please visit our website to learn more about Mabel and keep up with our journey of getting an answer.  www.rameelinlarson.blogspot.com

Ramee Larson
Illinois

GLOBAL GENES PROJECT AND RARE PROJECT

RAISING AWARENESS FOR Those Who Are Undiagnosed

DANA POINT, CA/SALT LAKE CITY, UT, Oct. 17 /MarketWire/ –- In the spirit of Rare Disease Day, the Children’s Rare Disease Network (CRDN) received a donation from RemedyMD^® (www.remedymd.com) of its Mosaic Platform RegistryOnDemand™ product specifically created for rare disease research organizations. In turn, the CRDN announced a plan to give this research registry tool away to one deserving winner via an online video contest. That winner, announced today, is the Foundation for Prader-Willi Research (FPWR).  The FPWR (www.fpwr.org) is dedicated to eliminating the challenges of Prader-Willi Syndrome (PWS) that affecting about 1 in 25,000 live births. PWS is the most common genetic cause of obesity and typically causes low muscle tone, short stature, incomplete sexual development, slow metabolism and a constant and chronic feeling of hunger. Historically PWS leads to excessive eating and life-threatening obesity.

The Mosaic Platform medical research software allows for the collection of disease data from any available sources including self-reported patient longitudinal data, and features powerful query and analysis tools to accelerate breakthroughs in treatments or cures. RemedyMD also just announced its software will be implemented at 10 NCI (National Cancer Institute) locations as part of SAIC-Frederick’s Advanced Technology Program.

“Using videos for giving away this rare disease registry was a great way to advance our goal of continuing education surrounding rare diseases and to generate global awareness,” said Nicole Boice, founder and president, RARE Project. “Many rare diseases affect small numbers of patients and because of the rarity of each condition, research is underfunded.”

RemedyMD will work with FPWR to configure its Mosaic Platform registry software to suit their needs—including aggregating and harmonizing available data and showing them how to easily collect new data, so the integrated powerful querying tools can recognize new patterns to develop new treatments or cures. The unique configurability of the registry is what allows all rare disease researchers to collect exactly what they need—while leveraging nearly a decade of software development they could not have spent millions to develop on their own.
“Building an International PWS registry is a real paradigm shift,” commented Keegan Johnson, Executive Director of the FPWR.   “Having a world class registry represents a significant opportunity to advance PWS research. A world of thanks needs to go out to the CRDN, RemedyMD, and our supporters.”

Theresa Strong, Ph. D., chair of the FPWR Scientific Advisory Board added, “We have an aggressive research agenda and are excited to link together research data from many organizations across the globe.  The Mosaic Platform will allow us to see and analyze patterns that are not visible without a centralized view of the data.  We believe allowing the best PWS researchers in the world to easily access this data will speed up new discoveries.”

RemedyMD CEO, Gary D. Kennedy, also added, “This project was important to us because the difference our software can make to researchers is significant. We offer pricing especially for rare diseases, and so our biggest challenge is merely making the public aware that it is available, powerful, and attainable.”

A recording of Wednesday’s webinar when the Mosaic Platform disease registry software was briefly demonstrated and the winning video was announced can be viewed at https://www.1gotomeeting.com/register/234937185. Contest video entries can be viewed at www.YouTube.com/RareDiseaseContest including those for Nephrotic Syndrome and FSGS, Marshall-Smith Syndrome, Pseudotumor Cerebri, Eosinophil Associated Diseases, Congenital Myasthenic Syndrome, Disorders of Sex Development, Pachyonychia Congenita, and the winning video from Prader-Willi Syndrome.

About RemedyMD
RemedyMD’s medical registry software leverages health care information technology to advance rare disease and other types of research. RemedyMD helps researchers aggregate and harmonize data from widely disparate sources and then identify patterns that result in accelerated discoveries. Our tools help collect, host, manage, and query data regardless of source; conduct experiments; manage studies and biospecimen; and help researchers build their own registries. For more information visit: www.RemedyMD.com.

About The Children’s Rare Disease Network
The Children’s Rare Disease Network is a program of RARE Project, a 501(c)(3) organization.   RARE Project exists to raise awareness, build community and fund in-their-lifetime research, all in an effort to make the lives better for those living with rare diseases. For more information about the RARE Project or Children’s Rare Disease Network, please visit us at www.rareproject.org

About the Foundation for Prader-Willi Research

The Foundation for Prader-Willi Research was established in 2003 by a small group of parents who saw the need to foster research that would help their children with Prader-Willi syndrome lead more healthy and fulfilling lives.  Today, FPWR is composed of hundreds of parents, family members, researchers, and others who are interested in addressing the many issues related to PWS, including childhood obesity, developmental delay, psychiatric disorders and autism spectrum disorders.

T The mission of FPWR is to eliminate the challenges of Prader-Willi syndrome through the advancement of research.  For more information visit: www.fpwr.org. High quality research will lead to more effective treatments and an eventual cure for this disorder.  By working together, we intend to free our loved ones from the burden of PWS, allowing them to lead full and independent lives.

Earlier this year we received a donation from RemedyMD (www.remedymd.com) of its RegistryOnDemand™ product specifically created for rare disease research organizations. We in turn  announced a plan to give this research registry tool away to one lucky winner via an online video contest. That contest ended last Friday, and the winner will be announced via live webinar this Wednesday, October 12^th at noon Eastern.

Attendees can hear the winner and watch an educational demonstration of the unique rare disease research technology for free by registering at https://www1.gotomeeting.com/register/234937185.

The RemedyMD medical research software allows for the collection of disease data from any available sources including self-reported patient longitudinal data, and features powerful query and analysis tools to accelerate breakthroughs in treatments or cures. Because of its unique technology, RemedyMD also just announced its software will be implemented at 10 NCI (National Cancer Institute) locations as part of SAIC-Frederick’s Advanced Technology Program.

RemedyMD will work with researchers at the winning disease organization to configure its Mosaic™ registry software to suit their needs—including aggregating and harmonizing available data and showing them how to easily collect new data, so the integrated powerful querying tools can recognize new patterns to develop new treatments or cures.

The unique configurability of the registry is what allows all rare disease researchers to collect exactly what they need—while leveraging nearly a decade of software development they could not have spent millions to develop on their own. RemedyMD offers rare disease researchers special pricing due to their inherent lack of funding.

Contest video entries can be viewed at www.YouTube.com/RareDiseaseContest including those for Nephrotic Syndrome and FSGS, Marshall-Smith Syndrome, Pseudotumor Cerebri, Eosinophil Associated Diseases, Congenital Myasthenic Syndrome, Disorders of Sex Development, Pachyonychia Congenita, and Prader-Willi Syndrome.

Thanks again to all who participated, and you can register for the Oct. 12^th free webinar which we will say a few words at by visiting https://www1.gotomeeting.com/register/234937185

Children’s Rare Disease Network is a program of RARE Project a 501c3 organization – www.rareproject.org

Last year, thousands of people around the globe joined the campaign in support of World Rare Disease Day, which takes place this upcoming February, 29, 2012 – a truly RARE Day!!!   Organizations hosted Wear Jeans days in their businesses, Schools supported through education and awareness days, State Legislators, Rare Disease Leaders and the general public jumped in a pair of their favorite denim jeans to show unity and support for a community of 350 Million people worldwide.

Wear That You Care - February 2012 supporting rare disease families!

This year, we will make a larger impact!!!  ‘Wear That You Care’ – 1 Million for RARE ~ is this years effort.  We are encouraging individuals, organizations, advocacy groups, legislators, elementary and high schools, college campuses, places of worship, etc. to participate in this years effort!  Specific efforts will be announced soon that will include details on how disease specific organizations and all stakeholders can participate and benefit from this campaign effort!

Awareness, Education, Fundraising & SUPPORT are what we are trying to impact with the Wear That You Care Campaign.   We are also working together with our global community of stakeholders to also create a massive social media presence that will include gaining 1 million supporters for rare disease at the Global Genes facebook site.

We can do this!  This is always an incredibly exciting and inspirational time for our community at large!  Welcome!!!  Join the movement and spread the word!   www.globalgenes.org and on facebook www.facebook.com/globalgenesproject

Without access to these longitudinal data, researchers for rare diseases don’t have the freedom or ‘latitude’ to widen the scope of their data queries which could otherwise yield new insights for cures and treatments.

Providers and parents of these children should be aware that companies in the health care IT space are making dramatic strides towards making it easier to collect more, and more varied, longitudinal data from more sources which can be pulled together easier in “registries”.

In the not so distant future, a treasure trove of de-identified patient data will be available to researchers regardless of their physical location, and it will be standardized and researchable like never before with 10s or 100s of times more data than available before. The data will come from myriad sources, and patients themselves will play a more active part entering data themselves through online portals several times more useful to researchers than the first portals developed a decade ago.

There will be a learning curve for patients and parents of patients, but, usability in top portals has been carefully addressed, and it should be a welcome change from the spiral notebooks of handwritten data so many parents of children with rare diseases are used to filling up and storing in boxes. Parents will relish knowing these data can be effectively aggregated and used to their fullest potential for the greater good; and this era is coming sooner than you think.

Author: RemedyMD Staff Contributor

10 Days Left to Win a Free Rare Disease Registry Valued Up to $50,000! Click here for Details!

Dr. Martin H. Orens

As a board certified emergency room physician, I am passionate about helping parents see the importance of having an online medical file for their children. It’s hard enough keeping track of a child’s health records in normal circumstances. Have you asked yourself the question, “Will my family’s health records remain accessible in the wake of a natural disaster?”  As a parent, you need to take proactive actions in advance since medical offices and hospitals are just as prone to fire, flooding, tornadoes and earthquakes as any other structure. When the staff has been evacuated, the hard copies of medical records connected to hundreds of patients are, in most cases, left to the destructive forces of nature.

To prevent this loss of medical records, and have them readily available to any physician in an emergency, it makes perfect sense for the parent to have their child’s medical history available online, on a secure and reliable server.  For families who manage a host of sensitive medical issues and challenges, having an Electronic Health Record (EHR) they can rely on is critical in life or death situations. The comments from the Spooner family clearly illustrate the benefit of this new technology.

“As a parent of two special needs children, I learned about the EHR through Children’s Rare Disease Network,” said Christy Spooner. “The idea of having my daughters’ entire health records and medical history stored in one place and having the ability to share that information with any doctor or hospital, really made me think seriously about the importance of this service.”

A patient-driven EHR combines a patient’s entire medical history into one source, which is available 24/7 from anywhere in the world. Regardless of where the patient is in a state of emergency, their medical records are safe and accessible thanks to digital technology. The EHR is a major step in empowering patients to take control of their healthcare by allowing patients to share their records with any doctor anytime.

“Anything that can help streamline processes is welcomed in my family—especially during an emergency,” said Christy Spooner.  “Having our children’s complicated medical records safely stored online means we do not have to explain our situation repeatedly when outside our normal doctor or hospital environments.”

In researching the many different electronic health record services available, one needs to take note that an optimum Electronic Health Record should:

• Provide a quick review of the entire medical and surgical history, immunizations, specialist reports and prescription records.
• Allow physicians to collaborate and contribute to a patient’s single comprehensive medical file.
• Be secure via the use of encrypted files, firewalls, password strength requirements and back-up systems.
• Give access to the user only with the patient’s permission, but be capable of emergency access under extreme situations.
• Be easy for the patient to set up and securely maintain records, anytime and anywhere.
  • Allow patients or parents/guardians to share information with multiple healthcare providers.

About the Author: Dr. Martin H. Orens, president and founder of KARE Information Services (KIS) Electronic Health Records, is a board certified emergency room physician. Dr. Orens recognized the critical importance of readily accessible, comprehensive medical records. He envisioned a system in which patients would have the ability to obtain and provide their own valuable medical information at all times, anywhere in the world—a particularly indispensable service in times of urgent or emergency care. In 2011, Dr. Orens realized his vision by launching KIS, which offers a secure, yet easily accessible personal Electronic Health Records (EHR) system that empowers patients and helps health care providers to better serve them. For more information on KIS-EHR, visit http://www.kisemr.com.

The contest is easy to enter and odds of winning are high. Simply create a video 5-10 minutes in length creatively telling why your disease and video should be selected as the winner. Anyone can enter, and in the event the winner is not directly involved in research, he or she can choose which disease association or research entity to receive the software. RemedyMD will then work with researchers to configure its Mosaic™ registry software towards that particular rare disease. It’s that easy!

For details, rules, and how to enter, visit www.remedymd.com/RareDiseaseContest. You can also see sample videos from participants on the official contest YouTube channel at www.youtube.com/RareDiseaseContest.

The winner will be announced at the rare disease webinar from RemedyMD on Oct. 12^th. To register for this webinar visit http://www.gotomeeting.com/234937185.

At the Gwendolyn Strong Foundation, we want as many people as possible to know that 1 in 40 people unknowingly carry a severe mutation in the SMA gene. Getting tested before pregnancy is one of the best ways to make sure that your child does not fall victim to a possibly lethal genetic disease.

And the least expensive way to do that today is with the Universal Genetic Test.

Counsyl has been gracious enough to donate five Universal Genetic Tests to the Gwendolyn Strong Foundation in recognition of August as SMA Awareness month. They have been building up a reputation as a patron of many rare disease foundations, and we believe wholeheartedly in their mission: to make preventive carrier testing accessible to everyone. We believe that every woman has the right to know her own genetic information, and the right to act on this knowledge to make informed, educated reproductive decisions about her children and her family.  See More

Innovation in Medical Diagnostics Saves Lives – a system that isn’t broken and doesn’t need fixing

For over a century, the U.S. Food and Drug Administration (FDA) has done a laudable job of ensuring the safety and efficacy of healthcare for Americans. Recently announced potential policy changes, however, have a good chance of doing just the opposite.

Most of us give little thought to what goes on behind the scenes when our doctors order medical tests. We have blood drawn and wait for results, never hearing about the tremendous amount of innovation that has taken place in the medical diagnostics arena. Precision testing, particularly tests based on DNA, is leading to more personalized care – and fewer wasted health care dollars – for those with cancer, AIDS, and a host of other conditions. For people with rare disorders, sensitive new tests are especially critical – there is no pain like that of watching a child with a complex disease go undiagnosed and untreated.

The FDA is now proposing a new level of regulation over diagnostic tests that will stifle innovation and is likely to make tests for some conditions completely unavailable. In particular, many tests for rare disorders would never come to light because the market for them is not large enough to support commercial development and production.

Many newer diagnostic tests are being developed and validated within sophisticated clinical labs themselves, rather than purchased from a manufacturer. To date, the FDA has openly opted for a policy of “enforcement discretion,” choosing not to apply its presumed authority over these tests, and allowing the labs to select the components and to design and validate their own tests. Accuracy and safety of diagnostic tests is, of course, paramount, and clinical labs are regulated by federal and state agencies, including the Centers for Medicare and Medicaid Services. In addition, professional societies, such as the College of American Pathologists and COLA (formerly Coalition of Office Lab Accreditation), constantly monitor and assess the quality and proficiency of clinical labs and the accuracy of their data. As a result, millions of tests are run each day in the U.S., crucial information is delivered to ordering physicians, and countless lives are saved. There is no evidence that this system does anything but care wonderfully for the patients its serves.

In fact, the evidence indicates that testing quality has steadily improved. Newer DNA tests for HIV, for example, are more accurate and quantitative than ever, allowing physicians to fine-tune drug regimens and improve their patients’ lives. Research in academic and medical center labs has demonstrated the complexity of cancer, showing us that tumors with similar appearance by traditional microscope methods can be very different if we peer further within, to the gene level. Tests for cancer-promoting genes are becoming increasingly available, and are being used to steer patients toward effective treatments targeting the specific genetic errors present in their disease.

The current system saves both lives and dollars. In addition to delivering routine clinical care, hospitals and testing laboratories often conduct basic and clinical research. Labs have been able to purchase one set of equipment to service all three endeavors while carefully monitoring the quality of the data they deliver. Not having to buy equipment for research and then another set for clinical work has saved these institutions from excessive capital costs, costs that would have to be passed on to insurers and patients.

FDA is now proposing to change their approach to these tests, and restrict their use, depriving patients of critical diagnostics just at the time when the dream of personalized medicine is becoming a reality. Moreover, the agency would force manufacturers into the role of policing their customers, which is burdensome and unnecessary.

The FDA’s proposed change towards more enforcement will only harm a well functioning system and the many needy patients who will find it harder or more expensive to obtain the clinical tests their doctors deem necessary. Patients with rare disorders often pursue a correct diagnosis for years – ten to fifteen years of searching is not uncommon. Must we add to their burden?

FDA’s “non-enforcement” era in diagnostics has been a great success, and it is in Americans’ best interest for it to continue.