The Tour de France and Testicular Cancer

We tend to focus a lot on rare genetic disorders, and with good reason as most of the 7,000 rare diseases are genetic disorders affecting children (75% of rare diseases affect children and 30% of rare disease patients die before the age of five). However, I want to talk with you today about another type of rare disease because it came to my attention on Friday, and the experiences of the boy in this story are no less profound and poignant than the others we discuss here on these blogs:

Age: 25 years old

Insurance Status: Uninsured

Diagnosis: Metastatic Testicular Cancer (Nonseminomatous germ cell tumor)

Testicular cancer was made “famous” by the great Lance Armstrong; here an incredible athlete who won the Tour de France a record seven consecutive times had testicular cancer that metastasized to his brain and lungs. Armstrong beat the cancer, and shortly thereafter founded the Lance Armstrong Foundation (remember all those yellow LIVESTRONG bracelets) AND returned to the Tour de France in 2009, after four years of retirement, taking third place. [Side note: The 2010 Tour de France ended today, July 25, and was won by Alberto Contador for the third straight time.]

Testicular cancers are incredibly rare, as they account for about 1% of all cancers in men, and less than 8,400 cases are reported annually in the United States; testicular cancer is listed as a “rare disease” by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). Generally speaking, testicular cancer is one of the most curable forms of cancer. There are nearly 170,000 men who have survived testicular cancer in the United States.

However, the boy mentioned above has Stage III testicular cancer, and now needs more than just another round of chemotherapy for a glimmer of hope. He needs an experimental autologous cell bone marrow transplant. Transplant services are usually not covered under Medicaid or Emergency Medicaid. The Temporary High Risk Pools are not set up everywhere yet, and even so the patient may not be eligible due to immigration status. There are only so many comprehensive cancer centers that are able to do such a procedure, much less one that would be willing to do it as “charity care”. I spoke with the National Marrow Donor Program and the Be the Match Registry to see if they could provide any resources, and they told me they mainly only work with patients in the leukemia and lymphoma society…

I share this story because it highlights the importance of the work that we all do, through alliances and partnerships of different patient Foundations, and the advocacy we facilitated towards passing health reform legislation. But our job is not yet finished. There is much more work to be done, and there are still patients who slip through the cracks. The system is not meeting the needs of patients with rare diseases and complex illnesses. What recommendations and solutions can you offer? Speak up, we need you.

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In the news:

You can read the testimony of Diane Edquist Dorman, Vice President for Public Policy of the National Organization for Rare Disorders (NORD), before the Senate HELP Committee on July 21 at their hearing on “Treating Rare and Neglected Pediatric Diseases: Promoting the Development of New Treatments and Cures.”

A congressional caucus is a group of members of the United States Congress that meets to pursue common legislative objectives.  A Rare and Neglected Diseases Caucus has been formed in the US House of Representatives by Congressmen Joseph Crowley (D-NY) and Fred Upton (R-MI).  To find your representative’s phone numbers, you may visit http://www.house.gov, use the searchable online congressional directory at Congress.org, or call the U.S. Capitol Switchboard at (202)224-3121 and ask for your representative’s office. Remember that telephone calls are usually taken by a staff member, not the member of Congress. Ask to speak with the aide who handles health care issues, or the health legislative assistant. Nord has also provided a Dear Colleague Letter which you may be interested in sending.

RareArtist.org was created by the Kakkis EveryLife Foundation for artists affected by a rare disease. They received many exceptional works of art during their inaugural EveryLife Art Contest which inspired them to create a venue to display this art and invite others to upload and share their art. Cick here to check out the RareArtist Gallery.

MarbleRoad is planning a launch and fundraising event October 9, 2010 in Washington, DC. Save the date! The fundraising portion will feature an art auction of several professional artists, each who have a compelling story to share related to complex illness—from cystic fibrosis and organ donation to transverse myelitis and RSD/CRPS, and much, much more. Proceeds will be used to provide financial assistance and support services to patients with complex illness. Please stay tuned for additional information. If you have any questions please contact Howard Liebers.

First unified protocol to provide primary care to rare disease patients introduced in Spain

In the European Union, a disease or disorder is defined as rare in Europe when it affects less than 1 in 2,000 persons, according to EURORDIS www.eurordis.org. There are between 6,000 and 8,000 rare diseases, affecting between 6% and 8% of the European Union population. Rare diseases are characterised by a broad diversity of disorders and symptoms, which vary not only from disease to disease but also from patient to patient. Yet medical professionals lack a unified protocol that assists them with treating patients who require out-of-the-ordinary care.

To bridge this gap, the Spanish Society of Family and Community Medicine (Sociedad Española de Medicina Familiar y Comunitaria, semFYC), in cooperation with several other Spanish institutions, has recently released an on-line protocol – the DICE-APER – to improve the Primary Care for patients with Rare Diseases.

“The goal of this protocol is the improvement of diagnosis and information related to these conditions,” said Dr Miguel García Ribes, the coordinator of the Clinical Genetics and Rare Diseases Group, in a recent interview given to El Confidencial. “It also aims to facilitate coordination between the different specialist doctors and provide epidemiological data that allow better health planning, as well as to advance research.”

The DICE-APER protocol recommends a series of steps that a general practitioner or family doctor can follow once the patient has agreed to sign the informed consent . By using the DICE-APER protocol, the diagnosis of the rare disease can be further confirmed and catalogued. The search engine provided in the web site offers a number of links to more specialized pages, allowing a doctor to easily find more detailed information and treatments as well as patient organizations. The DICE-APER protocol also facilitates better coordination between the different medical professionals in contact with the patient. In addition to this, by ensuring a proper register of patients and epidemiology, it provides the health institutions with reliable data.

It is estimated that every Spanish family doctor examines every year between 10 to 15 patients affected by a rare disease. Following the DICE-APER protocol should not represent an additional effort, but provide another tool to help ensure that the care given to patients is correct. Also, medical professionals should explain to patients affected by rare diseases that they can join the registry and why they should do it. The growth of this database will contribute to establishing the real dimensions of this problem and at the same time support researchers and institutions.

To use the DICE-APER protocol, please visit this web site (in Spanish language)

To read more about the Rare Diseases Strategy of the Spanish National Health System, please click here (in English language)

Organ Donors, Thalassemia, and Appropriations

Greetings readers!

Sorry it has been a while since my last post. Let’s see, what have we missed? Hope everyone had a fantastic July 4 weekend! Since my last I last saw all of you we had the holiday, and I spent some time in New York City. During the New York trip I checked out the exhibit “As Within, So Without” at the Lyons Wier Gallery, of which 10% of the proceeds benefited Donate Life NY, the New York Organ Donor Network.  The exhibition will be showing until tomorrow July 20, 2010:

“As Within So Without” is artist David Foox’s (“FOOX”) first solo show in New York since 2008 and incorporates FOOX’s unique and unconventional aesthetic and style. FOOX will be showcasing a series of painted X-rays from a variety of notable and influential personalities, including his own heart and chest, in an effort to raise awareness for organ donation and to demonstrate that each and every one of us are all from the same source. By bringing together the body with the spirit, FOOX hopes to help raise awareness for organ donation while also emphasizing the importance of unity amongst mankind. “As Within So Without” is an NYC exhibition of artwork and Custom Organ Donor Dolls by John Dunivant, David Foox, Kooks Malooks, Audrey Pongracz, and Ron Zakrin.

I also had an opportunity to catch up with Alyssa, National Fundraiser for the Cooley’s Anemia Foundation (CAF), who caught us up on the latest in the fight against thalassemia, a fatal genetic blood disorder also called Cooley’s anemia:

Thalassemia comes from Greek words Thalassa or “sea” and Haema or “blood”. Thalassemia is particularly associated with people of certain backgrounds, especially those of Mediterranean, Middle Eastern, northern African, south Asian, southeast Asian, Chinese or Caribbean origin.  For instance, the Maldives has a carrier rate of 18% of the population, and estimated prevalence is 16% in people from Cyprus. In Thailand, some estimates indicate that one-third of the population carries the trait for thalassemia.

The disease is an inherited autosomal recessive blood disease, which results in a reduced rate of the synthesis of one of the globin chains that makes up hemoglobin. People whose hemoglobin does not produce enough alpha protein have alpha thalassemia. People whose hemoglobin does not produce enough beta protein have beta thalassemia. People with thalassemia minor have one of a pair (heterozygous) of the thalassemia gene and are considered “carriers” of thalassemia; they usually suffer no ill effects, aside from an occasional mild anemia. If a person has two copies of the gene, they will have thalassemia major, which is the most severe form of chronic familial anemias that result from the premature destruction of red blood cells (hemolytic). People with thalassemia major require lifelong blood transfusions, as often as every two weeks and must also undergo a daily drug treatment.  In addition, they are subject to a wide range of complications, such as heart and liver failure, diabetes, pulmonary hypertension, osteoporosis (beginning as teen-agers) and blood borne infections such as hepatitis.  Life expectancy is significantly below normal.

Click here to learn more about the different types of thalassemia.

The Cooley’s Anemia Foundation funds medical research in order to advance treatment and find a cure for thalassemia; provide valuable patient services; and eduates the public, at-risk populations, medical professionals, and government officials about thalassemia.  Thanks to their efforts, patients are now living longer and fuller lives; but with many still dying in their 20s, often of cardiac failure, there is still a great deal more that needs to be done.  (Donations can be made by clicking here.)

Cooley’s Anemia Foundation have also worked with the Arizona Diamondbacks on a special fundraiser to “help strike out thalassemia”. On Saturday, August 7, 2010, when the Diamondbacks retire Luis Gonzalez’ #20, a portion of the game sales will be donated to CAF to help Arizona families fight thalassemia. Click here for more information.

A Journey of Courage and Hope

I Want to Feel It All

Carol Alt PSA

July has also been an exciting month on the hill, as Kakkis Everylife Foundation reported July 16 that:

“The Senate Appropriations Committee will now review the FY 2011 Agriculture, FDA, and Rural Development Appropriations Bill. The bill includes the first increase for the Orphan Product Development Grant program since FY 2005. The program is increased by $2,000,000 for a total grant level of $16,035,000. The Bill also includes specific funding for the Office of the Associate Director for Rare Diseases in the Center for Drug Evaluation and Research (CDER). Funding for this office is increased by $1,000,000 to hire additional staff with specific expertise in facilitating the development and review of products to treat rare diseases.”

Coming up on Wednesday, the Senate HELP Committee will hold a full committee hearing, for “Treating Rare and Neglected Pediatric Diseases: Promoting the Development of New Treatments and Cures”. The hearing will be at 10:00am in Room SD-430.

Lastly, I attended the Genetic Alliance Gene Screen on July 15, as a part of their 2010 Annual Conference “Advancing Novel Partnerships”. The film screening featured the stories of Darius Goes West, Mito-Kids, The Power of Two, On Beauty, and many others!

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MarbleRoad has been up to a number of exciting things recently, and stayed tuned for a major event Saturday, October 9, 2010 – mark your calendars and save the date! Follow @MarbleRoad on Twitter for all the latest news.

European Conference on Rare Diseases 2010 – From Policies to Effective Services for Patients

The European Conference on Rare Diseases (ECRD), which takes place every two years, is a unique forum that sees patient representatives of all the rare diseases gather with health care professionals, academics, researchers, policy makers and industry representatives to discuss the most recent rare disease initiatives in the fields of research, health­care, information and social services. The 2010 event took place last May 13 to 15, in Krakow (Poland ). It was the largest to date, with 600 delegates coming from 43 countries from all over the world.

ECRD 2010, entitled From Policies to Effective Services for Patients, was the occasion to discuss strategic issues for the rare disease community. Amongst these, special attention was given to the National Plans for Rare Diseases, Centres of Expertise and European Reference Networks, Research and Treatments, Information and Specialised Services. The programme included presentations, debates, workshops, satellite workshops, a poster session, a welcome reception and plenty of opportunities for participants to network and meet informally. Overall, there were 25 different sessions covering eight themes, involving 73 speakers and 37 chairpersons. (For speakers, presentations and detailed program, please visit this site )

Also, the EU Committee of Experts on Rare Diseases was presented. The Committee will act as a sort of ‘Parliament’ of the rare disease community in order to follow up on the work initiated at the biennial Conference

“The ECRD 2010 Krakow has served to identify those areas that need better policies in order to fulfill the objectives of the Council Recommendation and to build momentum for national plans and strategies to be implemented across Europe,” declared EURORDIS CEO at the end of the conference,  Yann Le Cam.

The next ECRD conference will take place in 2012 in Brussels!

For more information, please visit these website:

_ The European Conference on Rare Diseases 2010

_Photos of the conference

_Video interviews about the conference

Picture © EURORDIS. All rights reserved

Ella – Shine the Light on Aniridia

Shortly after being born in 2006, Ella was diagnosed with WAGR syndrome, a rare chromosome disorder. Babies born with this syndrome often have no iris in their eyes, a condition called aniridia. They also have a 50% chance of developing Wilms Tummor, a cancer of the kidneys that typically occurs in children, and they are also prone to genitourinary problems and mental retardation.

Last year, during a routine checkup, Ella was found to have developed kidney cancer. After a long and difficult treatment, which included a surgical procedure and chemotherapy, she was declared cancer-free.

Ella is now three years old and her parents, James and Elly, are concerned about the possibility of her eyesight being lost or becoming very poor due to the aniridia. They have turned their hopes to the Moorfields Eye Hospital in London (United Kingdom). “It’s something I believe could be cured in this day and age,” said Elly earlier this year to JournalLive. “Especially with the stem cell technology that’s out there.”

Recently, the Cells for Sight Transplantation & Research Programme has treated several adult patients with aniridia using stem cell therapy. “The early results are promising but far from perfect” says Dr Julie Daniels, who leads the  programme at Moorfields. “This outcome may not be enduring and has not been experienced by all patients treated. It is imperative that we have a better understanding of the basic biology of disease progression in aniridia in order to improve our existing therapeutic strategy and to develop novel therapies that may preserve or improve vision for longer.”

To pursue the research and find a treatment for their daughter, James and Elly are raising money for aniridia research. With the cooperation ofJustGiving, an online charity platform, they launched Shine the Light on Aniridia. “We know that the reality is her sight could be lost or become very poor; such is the nature of aniridia,” says Elly. “We cannot stand by after three years of her courage and bravery and not try and make sure that the cure for this condition is funded and found.”

How can you help?

If you want to donate or contact Ella’s parents, please visit the Shine the Light on Aniridia website here. Donations will be handled byJustGiving.

What is WAGR syndrome?

WAGR syndrome is a rare genetic condition that can affect both boys and girls. Babies born with WAGR syndrome often have eye problems, and are at high risk for developing certain types of cancer and mental retardation. The term WAGR stands for the first letters of the physical and mental problems associated with the condition:

_Wilms Tumor, the most common form of kidney cancer in children.

_Aniridia, some or complete absence of the colored part of the eye, called the iris.

_Genitourinary problems, such as testicles that are not descended or abnormal location of the opening for urination in boys, or genital or urinary problems inside the body in girls.

_Mental Retardation.

People can have WAGR syndrome but not have all of the above conditions. Most people with WAGR have two or more of these conditions.

What is Aniridia?

Aniridia is a rare congenital condition characterized by the underdevelopment of the eye’s iris, the circular structure that gives the eyes its color. This usually occurs in both eyes and is associated with the poor development of the retina. Vision is severely compromised, being the disorder also associated with a number of other complications with the eye.

Sources: Aniridia Network UK, CheckOrphan, International WAGR Syndrome Association, Journal Live, Shine the Light on Aniridia

>>>>Read more at CheckOrphan blog

Children’s Rare Disease Network Partners With Medpedia.com To Create Rarespace

Online Knowledge Share Platform to Provide Valuable Information to Rare Disease Community

Dana Point, Calif. (June 29, 2010) – Every parent needs a supportive, collaborative network full of information where medical professionals, researchers, patients, parents, advocates and the general public share knowledge about the rare childhood diseases that affect 22.5 million American families. RareSpace is an online knowledge sharing platform designed in partnership with R.A.R.E. Project, the Children’s Rare Disease Network and Medpedia.com to help grow resources for children with special needs. This resource is available online now at RareSpace.

“RareSpace is a unique and valuable tool for families caring for children with rare diseases,” says Jonathan Jacoby, CEO of the R.A.R.E Project. “With the help of Medpedia.com, RareSpace will become a safe place to share important information aggregated from the rare disease community at large, which is vital to finding hope for children.”

It’s the collaborative structure of RareSpace that makes it truly unique. The site will educate and connect users about critical resources, innovations in research, standards of care as well as best practices in treating rare diseases and disorders. Creating a community filled with medical professionals, policy advocates, researchers and parents catalyzes a free exchange of information, increasing the general knowledge quotient of every stakeholder. The goal is to supply real resources and connections for those who are in the care of children living with rare diseases and disorders, and help each family not feel isolated in their struggles to care, treat and advocate for these sick children.

“It’s so critical for families and caregivers to have a knowledge bank like RareSpace to draw from,” says Devon Watts, community manager at Medpedia.com. “We are excited that Medpedia.com is a part of connecting a community and granting an open space for dialogue and education. It’s the widespread sharing of information that will benefit patients most.”

Different from other community sites, one key advantage of RareSpace is that people can share documents and resources very easily. Discussions of genetics and genetic diseases in general happen on RareSpace, with the understanding that research on all these diseases could lead to cures for other genetic disorders as well. Articles on translational research and discussions of possible cures for diseases can be found on RareSpace. A major benefit is that medical professionals will answer questions posed by site users about treatment, best practices and how to best help these children and their families. Users will create profiles and have the opportunity to upload documents and links and connect with other users all within the RareSpace portal. In addition to connecting within RareSpace, users will have the ability to create disease specific groups that can all be linked with RareSpace. This robust platform provides numerous ways to share critical information and knowledge across the rare disease community, which can be done in a safe environment that includes representation from all of the key stakeholders involved in rare disease.

Rare Disease Family in the Limelight! The TODAY Show – Tuesday June 22

Derek Seymour, an 11 year old boy with the rare disease Joubert’s Syndrome, will be on the NBC TODAY SHOW tomorrow morning JUNE 22ND.  Please tune in and spread the word about our rare disease friends giving national attention to our community. Al Roker will be visiting the Eagle Mount program in Bozeman, Montana where Derek Seymour participates in activities for children with Special Needs.

Eagle Mount, a program for kids with special needs and/or cancer has been developed to help provide therapeutic and recreational activities for these children. Derek skis, swims, rides horses, plays golf, has Saturday night outs, etc. “It’s an incredible program that was started by parents who didn’t even have kids with special needs”, states Kelly Seymour, mother of Derek. “Eagle Mount was built because the founders saw a need and they wanted to help! This community has been been an absolute blessing to us.”

Derek will be riding Winnie, one of Eagle Mount’s horses which was donated to Eagle Mount by Tom Brokaw and his family who have been critical supporters of Eagle Mount for many years.  Tune in, Tuesday June 22 when the TODAY show airs in your time zone.

Prescription Drug User Fee Act (PDUFA)

The Prescription Drug User Fee Act (PDUFA) allows the FDA to collect fees from drug makers that produce specific human drug and biological products. These fees help to support the new drug approval process. In general, applications for products that have been designated as a drug for a rare disease are exempt from this fee. The statutory authority for PDUFA expires in September 2012. At that time, new legislation will be required for FDA to continue collecting user fees for the prescription drug program (the renewal of this Act is called PDUFA V). The FDA will hold the first of many meetings to gather input in advance of the next PDUFA, giving stakeholders an opportunity to weigh in on user fees the agency charges for drug review and how those fees are used by the agency. The July 1 meeting is open to consumer advocacy groups, health care professionals and scientific and academic experts, the FDA says in a notice in the Federal Register.

An example of PDUFA’s relevance for families impacted by a rare disease diagnosis is the drug Acthar, marketed by Questcor, which is used in treating patients with infantile spasms (“IS”), a rare form of refractory childhood epilepsy, and opsoclonus myoclonus syndrome, a rare autoimmune-related childhood neurological disorder. http://www.acthar.com/

OPSOCLONUS MYOCLONUS SYNDROME
Opsoclonus Myoclonus Syndrome is an extremely rare auto-immune disorder that affects as few as 80 children a year in the United States. It is caused by a neuroblastoma, a cancerous tumor, or a virus. It is thought that antibodies in the immune system designed to fight off the tumor (or virus) end up attacking the brain as well. Opsoclonus” is an unusual disorder of eye movement in which both eyes dart involuntarily (dancing eyes). “Myoclonus” simply means brief muscle jerks and “ataxia” indicates incoordination. The syndrome has been called by many other names, such as “Kinsbourne syndrome,” “dancing-eyes-dancing-feet” or opsoclonus-myoclonus syndrome (OMS). Most children are less than two years old when diagnosed. There is no cure for OMS. http://www.omsresearch.org/ (A Global Genes Project Organization)

Facebook Groups—
Opsoclonus Myoclonus Syndrome Awareness
OMS Families – Opsoclonus Myoclonus

INFANTILE SPASMS – REFRACTORY CHILDHOOD EPILEPSY
The onset of infantile spasms (sometimes characterized as West Syndrome) is usually in the first year of life, typically between 4-8 months. The seizures primarily consist of a sudden bending forward of the body with stiffening of the arms and legs; some children arch their backs as they extend their arms and legs. Spasms tend to occur upon awakening or after feeding, and often occur in clusters of up to 100 spasms at a time. Prognosis is dependent upon the underlying disorder. Many underlying disorders, such as birth injury, metabolic disorders, and genetic disorders can give rise to spasms, making it important to identify the underlying cause. In some children, no cause can be found. http://www.tsalliance.org/

Infantile Spasms and TSC: A Devastating Diagnosis

From Twitter—
@bsangel: it’s not for a prize or anything, it’s just about spreading infantile spasms awareness. (http://bit.ly/bq46Zz)
@ PLM_Epilepsy: our journey with infantile spasms: epilepsy walk http://bit.ly/9kSIja

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REMINDERS:

• June 23, 2010: Congressional Hearing on the Food and Drug Administration’s (FDA) Review Process for Rare & Neglected Diseases
• June 29-30, 2010: Public Hearing Regarding Food and Drug Administration’s Review and Regulation of Articles for the Treatment of Rare Diseases
• July 1, 2010: Prescription Drug User Fee Act (PDUFA) Reauthorization Stakeholder Meeting

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Today is Paramyloidosis Observance Day

Today, June 16, is the first Paramyloidosis Observance Day. This genetic disease is endemic in parts of Portugal and Sweden. It is thought to have originated in the north of Sweden and was then brought to Portugal during the Viking invasions. Today, it is endemic in some locations in the north of Portugal, with more than 1,000 affected people originating from about 500 families. It also presents a high incidence in Northern Sweden, where 1.5% of the population has the mutated gene. Seventy percent of the carriers of the mutated gene develop the illness.

“There are still many Portuguese who do not know what paramyloidosis is,” says Carlos Figueiras, the President of the Portuguese Association of Paramyloidosis “We want to inform people that this indigenous disease was spread all over the world by the Portuguese during the Discoveries period, in the fifteenth century. Moreover, after the Portuguese mass emigration during the 1960s it was also brought to Central Europe”.

Paramyloidosis, also known as familial amyloid polyneuropathy, Corino de Andrade’s disease is an inherited neurodegenerative condition characterized by deposits of an abnormal protein called amyloid in various parts of the body. It can produce a range of symptoms from mild tingling and/or pins and needles to strong pain. Paramyloidosis usually starts in the toes and can spread further up the legs as and the hands can be involved as well. It is chronically debilitating, fatal and incurable.

Sources: Agência Lusa (in Portuguese), Portuguese Association of Paramyloidosis, Wikipedia, Wrong Diagnosis

>>Read more at CheckOrphan blog

Primary Care and HIT – What do they mean for you?

Federal health reform legislation passed earlier this year significantly expands the primary care system in America. Through expansions to Medicaid and other health insurance reforms more people will have access to care, and many of them will receive their care at community health centers. Through support from the Community Health Centers Fund, federally qualified community health centers will see upwards of 40 million patients annually nationwide by 2015. Comparably, Medicaid will be expected to provide coverage for 76 million people by 2019 (60 million now + additional 16 million) and Medicare will cover 39 million people (expected to reach 78 million by 2030, when the baby boom generation is fully enrolled). Before the passage of both the Patient Protection and Affordable Care Act and the Health Care and Education Reconciliation Act, we had the American Recovery and Reinvestment Act, which included an unprecedented investment of $47 billion in health information technology initiatives (HITECH Act of 2009). This investment built upon work which began in 2007 out of the U.S. Office of the National Coordinator for Health Information Technology (ONC), in developing the Nationwide Health Information Network (NHIN).

So… what does this stuff mean for the rare disease community? Well, I bring this information up for two reasons:

(1) Within the rare disease community there has been much focus on orphan drugs, medical devices, medical foods, etc for once a diagnosis has been established. But what about the coordination of care for some of these complex illnesses? Even earlier, what about the complexity of even establishing a proper diagnosis, or a diagnosis at all?

There is a lot of national focus, for good reason, on patient-centered medical homes initiatives and primary care. Joint Principles of the Patient Centered Medical Home according to the Patient Centered Primary Care Collaborative of AAFP, AAP, ACP, AOA and others include things such as a personal physician, whole-person orientation, integrated care, and quality and safety. According to Federally Qualified Community Health Centers, “Medical homes are patient-centered, regular, and continuous sources of care, coordinated by a team of medical professionals committed to quality improvement.” Community health centers have been doing this very well since their inception more than 45 years ago:

“For over 40 years, health centers have brought affordable health care services to communities overlooked and underserved by mainstream medicine. Health center patients – who total over [20] million in all – are predominately low income, uninsured or publicly insured, and members of racial or ethnic minorities. In fact, health centers currently serve one in every five low income uninsured individuals, one in nine Medicaid beneficiaries, and one in four low income minorities. Most health centers have broadened the scope of conventional health care services to include dental and mental health services, as well as case management, transportation, translation, and outreach. Because they go above and beyond the role of a medical home, health centers may be more appropriately described as “health care homes.”

Questions for Patients:

Where did your case originate? [Health center, hospital, private practice?]

Where was the diagnosis made?

Who coordinates your care now? [Is there a primary care provider leading a team of doctors or are you trying to navigate through a fragmented network of providers on your own?]

(2) I’ve seen a lot of dialogue about rare disease registries and undiagnosed disorders registries, and there are some pros and cons to that design. One of the challenges perhaps being the more than 6,000 different rare disorders that our family and friends have… There are some small networks forming here and there, such as the NIH Rare Diseases Clinical Research Network (network of 19 distinctive consortia) and RemedyMD, Inc’s March launch of RegistryOnDemand™ (10 rare disease registries in production). I want to know about the efforts going on to connect to patient records, if there are any?

With significant number of the population being seen in the health center system, who tracks information through the Uniform Data System and various Medicaid/Medicare reporting mechanisms, there could be something here for us to look at. As State Health Information Exhanges, Regional Extension Centers, and Regional Health Information Organizations establish themselves and grow and continue to implement electronic health records, we can see the blueprint for the infrastructure the rare disease community needs being lay out. These exchanges, for example, allow a private practice or health center doc access records of tests and treatment if say a patient has an emergency room visit, for proper care follow-up and coordination.

Questions for Providers and HIT Specialists:

Advantages/Disadvantages of a single registry, a network of registries, etc?

Would this information be useful for provider education on, say, differential diagnosis?

Would the data in these records be useful to doctors trying to coordinate the care of a person with a rare disease?

Do current definitions of meaningful use consider the rare diease (ie care coordination, engage patients & families, improve public health, etc)?

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