In October 2017 the National Organization for Rare Disorders (NORD) held their annual meeting to gather patient group representatives, the U.S. Food and Drug Administration (FDA), researchers, doctors, and others involved in the rare disease community.  NORD has been advocating for those with rare diseases for almost 35 years now; the organization began as a coalition of patients and families living with rare conditions in the late 70s and early 80s.  There are about 7000 rare diseases currently identified, and fewer than 500 – approximately 5% – have FDA-approved treatments. 

NORD is a 100% patient-driven 501c3 with membership and volunteers totaling more than 3500 individuals.  There are over 1200 patient groups for rare diseases, and NORD operates in all 50 U.S. states and 30 other countries.  NORD is fully funded through donations and providing services and educational programs.  CSRF is a member of NORD.    

Cushing’s is covered under NORD’s Patient Assistance Program (PAP).  We encourage anyone having difficulty paying for treatment or organizing logistics of care to check with them to see if resources might be available to help.  For more information, visit www.rarediseases.org and follow the tab “for Patients and Families” to the PAP section.      

The Orphan Drug Act and Recent Passage of the Tax Act

One of the first major accomplishments of NORD was their key role in the passage of the Orphan Drug Act of 1983.  Listening to presentations from the FDA and NORD today makes you realize how huge the machine is that works to navigate laws, patient needs, clinical trials, research, and drug approvals.  At the individual level, a Cushing’s patient, for example, might experience “sticker shock” when they hear the unsubsidized price of a drug, then relief when they end up with just a $25 co-pay.  There’s a complicated story behind those two pieces of data though, starting back with the Orphan Drug Act.  A medicine might be vital to help your body manage cortisol while you wait for surgery or radiation, but you are one of a very small pool of total rare disease patients who will need that medication.  Compared to common drugs taken by millions of people like diabetes drug metformin or anxiety treatment alprazolam, the ratio of total product cost (research and development, marketing, etc.) to affected patients is staggeringly large for a rare disease.  The median cost per year per patient for an orphan drug is $32,880, and the average approximate number of patients on an orphan drug is 750.

We Cushing’s patients have a limited number of medications available to us now, but the future for drug development for all rare diseases took a hit when the final tax act was passed in December 2017.  The House wanted to completely gut the Orphan Drug Tax Credit (ODTC) program, while the Senate wanted to slash it by half.  The ODTC was part of the Affordable Care Act of 2010.  Prior to the current administration’s budget decisions, groups developing treatments for rare diseases could claim a tax credit for up to 50% of their qualified clinical testing expenses.  The final bill reduced that by half to 25%.  CSRF was one of more than 200 patient groups who signed on to a statement issued by NORD opposing this cut to a program that has led to a wave of new therapies and treatments for rare diseases over the last seven years.  This is huge because about one third of all new drugs approved by the FDA now are for rare diseases; in 2015, a hefty 47% were so.

Put a Face On It!

NORD encourages individual patient organizations to get involved with researchers and clinicians who are working on aspects of their particular disease focus.  Building relationships goes a long way for the benefit of all parties; we are the end users of their work, and information shared in both directions increases understanding and produces better long-term outcomes.  Therefore, we try to “put a face on it” – to humanize the disease experience and effect of the clinical work.  A medical student might be more meaningfully impacted during a 10 minute patient presentation than from an hour-long lecture on data and scientific method.

There has historically been a bit of a separation between those who are looking for a cure or fix and those who are looking at quality of life (QoL) issues.  We patients have long known that both are vitally important!  Ongoing improvements should involve a cohesive unit of medical and surgical options, QoL considerations, and the patient experience.  CSRF strives to provide the latter as frequently as possible, exhibiting several times a year at endocrine and other related conferences.  We are encouraged by the feedback we receive at these events, as it seems that more and more doctors are seeing Cushing’s patients and following accepted guidelines for diagnosis.

PCORI and the FDA

Congress established the Patient-Centered Outcomes Research Trust Fund (PCOR Trust Fund) in 2010 as part of the Affordable Care Act.  This fund receives income from three sources: appropriations from the general fund of the Treasury (currently $150 million annually), transfers from the Centers for Medicare and Medicaid trust funds, and a fee assessed on private insurance and self-insured health plans (the “PCOR fee”).  The Patient-Centered Outcomes Research Institute (PCORI) was then formed to administer these funds as an independent, non-profit, non-governmental organization.  PCORI directs money to research looking at the effectiveness of two or more proven treatments and measuring their benefits in the real-world population.  All stakeholders, including patients and caregivers, are vital to the success of these research programs.  As of October 2017, PCORI has awarded $80 million to fund 27 research studies related to rare diseases.  Cushing’s has not yet been the focus of a PCORI study, but who knows what the future holds. 

The FDA makes a substantial effort to get input from patients by offering multiple “access routes” like Twitter (FDA_Patient_Net), Facebook, and their Patient Network and Newsletter sent out twice a month (subscribe at http://go.usa.gov/xKzwb).  The FDA works closely with NORD and seems to have embraced the value of patient input on rare disease issues relatively early.  Just as many doctors are beginning to address patients’ neuropsychological needs as part of their standard of care, these “big hitters” in the rare disease community are beginning to focus on the vital role we patients must play in decisions that will affect our long-term health and possibly also our short-term survival.

Rare Patient Journey Data Tells the Story

According to NORD, on average, the diagnosis of rare conditions requires two to three misdiagnoses and visits to seven or eight doctors.  It takes an average of five years to get a diagnosis, and even then many are still not fully accurate.   

There are more Americans living with a rare disease than HIV, heart disease, and stroke combined.  One in 10 Americans has a rare disease which equates to approximately 25-30 million people in this country; more than half of those people are children.  The official definition of a rare disease in the US is “any disease, disorder, illness or condition affecting fewer than 200,000 people”. 

NORD has the motto “Alone we are rare, together we are strong.”  Our combined voices are changing the landscape of treatments and policy, and we encourage participation in academic research, surveys, and other outreach from professionals working to find solutions to some of the problems we face with a rare disease.

How You Can Get Involved

Involvement starts with educating oneself on the issues that are important to them.  Follow trails of articles and research studies on Cushing’s, individual symptoms, or whatever else interests you.  NORD and the FDA both have very detailed websites geared to patient access.

If you are interested in looking at the legislative process where you live, participating in events, and connecting with other rare disease patients and advocates, NORD has the Rare Action Network for your consideration in all 50 U.S. states.  Most of these groups are fairly new so if you have organizational or other skills to offer, that might be a good place for them.  You can find more information at www.rareaction.org.

From time to time CSRF will partner with researchers to share surveys or other questionnaires; as this newsletter goes to press, Dr. Jitske Tiemensma and her team at UC Merced are finishing up a survey on QoL that was conducted with CSRF membership.  We look forward to sharing the results with you, knowing that all the data came from patients who recognize the importance of lending their input to those hoping to change the future of Cushing’s treatment.

Author’s Note:

I have been attending meetings related to legislation, policy, and non-profit organization on behalf of CSRF for several years now.  I’m always blown away by the magnitude of information out there and the highly qualified and immensely intelligent people working at some of these agencies.  What we hear about healthcare in the news, online, and in our communities is negative and frustrating most of the time, but there are a lot of people working to bring about change.  This should lead to exponentially better outcomes for all patients in a much shorter time than it has taken to get to this point so far. 

All references in this article came from websites and conference slides, notes, and handouts from NORD, FDA, and PCORI.

by Leslie Edwin

Winter/Spring, 2018