Doing our Part in the Rare Disease World

Posted Friday April 06, 2012 by Melissa

On the heels of Rare Disease Day and Rare Disease Patient Advocacy Day at the FDA, NIH, etc. (where several of our friends participated – thank you!), this week is highlighting even more the importance of being involved in the overall rare disease and orphan drug world in order to achieve our goals of better treatments and even cures for our kids as well as for all the other rare diseases out there. Next week’s World Orphan Drug Congress will appropriately follow closely behind efforts today that I hope can help get the FAST Act through Congress (see below).

I’m so excited to be attending and speaking at next week’s World Orphan Drug Congress in Washington, D.C. The event brings together pharma, biotech, government and regulatory bodies, patient advocacy organizations, and patients and caregivers themselves to “strategize about the opportunities and challenges in commercializing treatments for rare and ultra-rare diseases.”

On Tuesday, April 10, I will be on a panel with Wendy White and Eileen O’Brien of Siren Interactive, a leader in relationship marketing and social media strategy for rare disease therapies, discussing my experience with rare disease and social media.

world-orphan-drug-congress-usaOn Wednesday, April 11, I have the distinguished honor of five minutes between John Crowley, CEO and Chairman of Amicus Therapeutics (if the name is not instantly familiar, you may know him as the driven father of two children with Pompe disease from the movie Extraordinary Measures) and Angus Russell, CEO of Shire, the pharmaceutical company that makes Case’s intravenous and intrathecal drugs. In that five minutes, I hope to share Case’s story and speak on his behalf as to the impact that rare disease research and treatment have had on his life and our hopes for all of those suffering from rare disease.

So if you are attending the event as well, feel free to connect with me on the Contact system, via Twitter, or by the contact page on this website.

I look forward to reporting back about the conference via a post next week, but for today, I have an action item for you….

We NEED rare disease treatments to be approved more quickly. Even if the overall discussion of PDUFA, ULTRA, FAST, the Senate version, House version, etc. is sometimes over our heads, just read and ACT!

Act FAST to save FASTThe Senate’s discussion draft for the Prescription Drug User Fee Act (PDUFA) was released late Wednesday.  Unfortunately, the rare disease language from the ULTRA/FAST Acts that allows improved access to the Accelerated Approval process for rare diseases was not included.

Many organizations, including Dr. Kakkis’ EveryLife Foundation and the National MPS Society to ask their members and participants to make efforts to help to ensure the language will be included in the second draft of PDUFA.  Senators Harkin (D-IA) and Enzi (R-WY), as the Chairman and Ranking Member of the Senate HELP Committee, have the power to include this important language in PDUFA. Please take 5 minutes TODAY to call Chairman Harkin’s and Ranking Member Enzi’s offices and tell them why this is important to you.

We will only be successful if YOU take ACTION immediately!  Senators Harkin & Enzi need to receive hundreds of calls before 5pm EST today from advocates to understand that it is important for rare disease patients.  YOU can make the difference! Make your calls and then please share this action alert via email, Twitter and Facebook.


Below are the numbers for Harkin & Enzi’s offices.  Please speak with the staff member who answers the phone, using the script below.  If no one answers, leave a voicemail.  If the voicemail box is full, call one of the district offices.  Keep trying until you are sure they received your message.  If you want a direct response, you should leave your contact information and specifically request a written response.  Be respectful to the staff, but express your urgent concern.  

Chairman Harkin (D-IA)
DC Office:  (202)224-3254
District Offices: (319)365-4504, (563)322-1338, (515)284-4574, (563)582-2130, (712)252-1550
(if you live in Iowa please say so on the call)

Ranking Member Enzi (R-WY)
DC Office:   (202) 224-3424      Toll-Free:  (888) 250-1879
District Offices: (307)261-6572, (307)772-2477, (307)527-9444, (307)682-6268, (307)739-9507
(if you live in Wyoming please say so on the call)

Sample Scripts:
Parent/Family/Caregiver/Friend:  I am a parent of a child with a rare disease that has no treatment.  I am calling you because I’m concerned that the Senate’s version of PDUFA does not include language to improve access the Accelerated Approval Pathway for rare diseases.  This language, found in HR 4132 the FAST Act is essential to spur the development of lifesaving treatments for my child.  Please make sure the rare disease language is included in the final version of PDUFA.  My child will die without treatment.   

Patient:  I’m calling today because I have a rare disease and I deserve a treatment.  The Senate has failed to give rare diseases access to the Accelerated Approval pathway in the draft PDUFA language.  The language being circulated is missing essential language from HR 4132 the Faster Access to Specialized Treatments Act that fixes a catch-22 for rare diseases.  I demand that the Senate listen to the voices of the patients!

Physician/researcher/industry:  I am a physician working to treat rare diseases calling because I’m concerned that the Senate failed to include language in the PDUFA draft that allows rare diseases to have access to the Accelerated Approval pathway.  These diseases are so rare that it will be extremely difficult to ever get this treatment to patients without access to the Accelerated Approval Pathway.  Please include the language from HR 4132 that was included in the House version of PDUFA.

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