May, 2018

Life Through a Lens – UK premiere screening

Dr. Wyatt Yue will introduce the @APBDRF documentary “Life Through a Lens“ at our UK premiere screening at the Oxford International Film Festival on Sunday, May 13th 6pm

http://www.oxiff.com/life-through-a-lens


March, 2018

Global Genes – Medical Student Pairing

APBDRF Board Member David Epstein has been paired with a 3rd year medical student from the University of Maryland. In a program sponsored by Global Genes®, medical students are paired with rare disease patients in an effort to build the bridge of understanding and compassion among medical professionals. Global Genes® is conducting the third year of the David R. Cox Scholarship for Rare Compassion. This scholarship program is an opportunity for emerging medical students to connect to the rare disease community with the goal of developing and understanding compassion for the challenges and lifestyles that patients diagnosed with a rare disease are faced with everyday. It is an opportunity for the rare disease patient to share stories and raise awareness of his/her rare disease.

David provided information on his experiences with APBD, his ultimate diagnosis after more than 10 years of symptoms, and work of the APBDRF.

Global Genes® is one of the leading rare disease patient advocacy organizations in the world. The non-profit organization promotes the needs of the rare disease community under a unifying symbol of hope – the Blue Denim Genes Ribbon®.


February, 2018

Join over 500 cyclists and volunteers to bike ride in support of Rare Disease Research

Thank you for your interest in joining the APBD Tour De Friends Team in the University of Pennsylvania’s Million Dollar Bike Ride on May 20 to show your support for rare disease research. There are 7,000 rare diseases & disorders that combined affect 30 million Americans.

APBD is a rare, inherited disorder of metabolism that devastates the nervous system. It gives no indication of its presence in infancy or childhood, but it strikes adults when they’re in the prime of life — as young as 35. Most often, sufferers are told they have MS, ALS, peripheral neuropathy, and other severe degenerative ailments which have similar symptoms. At the current time, there is no treatment or cure.

We have two goals for the Penn Million Dollar Bike Ride:

About the Ride

The Million Dollar Bike Ride offers a choice of three scenic rides of 13, 34, or 72 miles starting in the city, and ranging across the Greater Philadelphia region. The routes will start and finish at the University of Pennsylvania campus in downtown Philadelphia. The roads will be completely shut down for exit from the city, up until the MLK riverdrive. The return will stay on the river drives almost all the way until the South Street bridge, which will bring us over to the finish with very little time on streets with traffic for the short route.

For more information about the routes, visit:

http://www.milliondollarbikeride.org/ride-routes/

To Register:

The first 20 bike riders to register for the APBD Tour de Friends team are eligible to be reimbursed the $60 registration fee up until April 1, thanks to a generous donor. After you register, email sharon@apbdrf.org to find out if you are in the first 20 registrants for reimbursement.

Click on the box below to register as a Non-Fundraiser, and make sure to sign up to ride with the APBD Tour de Friends team.

To register click on the banner:

or click on this hyperlink:

https://www.alumni.upenn.edu/s/1587/gid2/wide_simple.aspx?sid=1587&pgid=16765&gid=2&cid=38198&ecid=38198&post_id=0

If you are interested in donating to help us meet our goal of raising $50,000, visit our fundraising page: http://bit.ly/2CJmLjd


February, 2018

We need your input to target research

Help us, help you!

Dear APBD Patient (with confirmed diagnosis):

The Foundation can better target research if we hear from the wide APBD community. Recently, we have heard from some of you on APBD diets, possible new health problems, misdiagnosis experiences, and genetic testing. But we need to hear from the entire patient community to better target research on these and other areas of concern to you.

For example, some of you have asked about an appropriate APBD diet. Currently, we do not have a medically established diet for APBD patients. But your experiences with special diets may help research efforts to develop diet guidelines for APBD patients.

We are thinking of doing periodic surveys with the patient community to get at these APBD issues, but do not want to overburden anyone. The surveys would be tested in a focus group to ensure that they are answerable within 15 minutes. However, what survey frequency seems reasonable to you? Six months? 12 months? or 18 months?

Also, how would you want to receive such surveys? According to survey specialists, there are two good survey methods for the APBD community: (1) Snail mail or (2) E-mail with web link. In either case, your data would be pooled with the others and aggregated for analysis; the overall results would be shared with you.

With your support, the first survey would be launched in the latter part of April.

To sign up for periodic surveys, please contact us at Sharon@APBDRF.org or phone 646-580-5610 and indicate as much of the following information as possible:

Subject: Periodic Surveying
Name

Physical address
E-mail address

Acceptable frequency of surveying: 6,12, or 18 months
Preferred method for receiving surveys: (1) snail mail or (2) email with web link

By participating in these surveys, you will have a voice in future APBD research.

Most Sincerely,

Gregory Weiss


January, 2018

We need you to ride with us for APBD research on May 20th in Philidelphia

Greetings from the ODC!

Registration for the 2018 5th Annual Million Dollar Bike Ride is now open! Please follow this link to register for the ride, which takes place on Sunday, May 20, 2018.

Feel free to share the above link with others, and post to your social media sites!

Registration “With Fundraising”:

The fee for registration “With Fundraising” is $25.00 Please remember that if you select registration “With Fundraising”, there is a required fundraising minimum of $250. It is expected that the minimum will be met by May 20, 2018. You can select a team and raise funds for a specific disease, or you can register as “Independent”. The money raised by the independent group will be split among all disease teams. Once registered, the link above will guide you in setting up your Giving Page.

Registration “Without Fundraising”:

You can also choose to register “Without Fundraising”. The fee for this option is $60.00. Please note: this price will jump to $80.00 on April 1st.

To stay informed about the Million Dollar Bike Ride, make sure you are on the ODC Mailing List. You can also check the MDBR Website and Facebook Page.

If you have any questions, please email Samantha Charleston (scarle@upenn.edu).

Thank you, and we look forward to seeing you on your bikes in May!

Samantha Miller
Registry/Program Coordinator
Orphan Disease Center
University of Pennsylvania
Phone: 215-746-2704
http://orphandiseasecenter.med.upenn.edu/


Page 1 2 3 4 5 6 7