January 9

Penn State Children’s Hospital; Grand Rounds

Hershey, PA

February 7

Pediatric Grand Rounds: Children’s Medical Center @ Winthrop-University Hospital – Long Island, NY

8:30 am – 9:30 am

Winthrop’s Children’s Medical Center has been named to U.S. News & World Report’s 2016-17 Best Children’s Hospitals rankings for demonstrating excellence in the specialties of:

• Pediatric Diabetes and Endocrinology
• Pediatric Urology
• Pediatric Pulmonology

In connection with this temporary relief, users should consult with a medical professional if tingling and nerve pain continue over a long period of time as this may be an indication of diabetes. Monitoring the blood sugar level is essential and Nerve Pain Away is not manufactured to address this serious condition. Visit https://neuropathycure.org/nervestra-review/ for more information.

February 3

GTFI Symposium Flyer

Screening ON BEAUTY and Presentation

Genetic Task Force of Illinois Website

February 2

The Kennedy Institute of Ethics at Georgetown University will host its fourth annual “Conversations in Bioethics” program on February 2, 2017 on the topic of “disability.” Event info

Thursday, February 2, 2017

JOIN US AT GEORGETOWN UNIVERSITY, OR TUNE IN ONLINE AT 6PM EST:

5:00pm Student Gallery, Healy Hall, first floor
(drinks and passed hors d’oeuvres)

6:00pm Panel Discussion, Gaston Hall
(will also be live-streamed; check back for link)

We hope to see you there! Stay up to date on this year’s conversation by joining the Institute’s mailing list.

THIS YEAR’S TOPIC

What is a disability, anyway?

In an era of ever-growing pharmaceutical enhancement, what counts as intellectually disabled, and why would that matter? How does the way we define disability (and normalcy) impact the just distribution of resources in society — and the way society treats those who happen to fall outside the norm? How are foundational concepts in ethics like dignity or autonomy complicated by reflection on the many ways we are dependent on others in the course of any “normal” human lifespan?

Each year, the Kennedy Institute of Ethics convenes a wide-ranging and personal conversation among expert panelists, preceded and informed by student work on the same topic. We can’t wait to share this year’s conversation, complicating the very notion of “disability.” Join us this February, in-person at Georgetown University, or digitally via live-stream, as our team goes deep on this thought-provoking and deeply important issue.

PANELISTS

JULIA WATTS BELSER, PH.D.

LYDIA X. Z. BROWN

TERESA BLANKMEYER BURKE, PH.D.

RICK GUIDOTTI

JOHN HOCKENBERRY

DONNA R. WALTON, ED.D., CCBT

Did you know? This year’s topic celebrates one of the issues at the heart of the KIE story: disability.

The Institute was founded in 1971 with support from the Rose and Joseph Kennedy Foundation, inspired in large part by the Foundation’s ongoing commitment to advancing the rights of the disabled. This year’s topic celebrates that founding vision of a world where the voices of the powerless are made powerful through thoughtful reflection and theory-driven advocacy, and it dives deep into some of the most complicated and interesting questions in disability ethics today.

February 8

The Johns Hopkins University/National Human Genome Research Institute Genetic Counseling Training Program

Positive Exposure Presentation

Medical Students are AWESOME!

January 16

Lecture to 1st Year medical Students: Philadelphia, PA

January 11-13

Rick and the film team are traveling to Houston this weekend to create: A FRAME Film

The Psychological and Social impact of living with a skin condition like Alopecia, Vitiligo, Ichthyosis etc..

In collaboration with the Children’s House for the Soul and The Health Museum.

We will be working with our ambassadors featured in Houston’s Health Museum Positive Exposure Exhibition

January 11-13

FRAME shoot in Houston, TX

The Psychological and Social impact of living with a skin condition like Alopecia, Vitiligo, Ichthyosis etc..

In collaboration with the Children’s House for the Soul and The Health Museum.

January 4

On my way to Minneapolis today to speak to 0ver 100 Orthodontists and over 300 staff. A 2.5 hour presentation of POSITIVE EXPOSURE, FRAME and PEARLS with a dental twist!!!!!

January 4

The Minnesota Association of Orthodontists (MAO) is comprised of members of the American Association of Orthodontists (AAO), the Midwestern Society of Orthodontists (MSO), and the MAO who reside in the state of Minnesota.

More Info

December 7

First Year Med Student Lecture: Rick

University of MN

Heading to Minneapolis now. 

Fun wild day tomorrow: 

University of MN

8:30 Genetic Counseling student lecture

10:15: Med student lecture with grad student & Pearls ambassador Rachel. (Register for Pearls and Check out Rachel’s blog) 

11:45: Shoot with new Pearls ambassador

12:30: Adobe Corp Presentation 

Stay tuned for lots of pics!!

December 3

Heading back to the Faroe Islands today!

Spent a week photographing some amazing new friends here in the Faroe Islands in September. Heading back for the exhibition launch CELEBRATING International Persons with Disabilities Day on December 3rd at the Nordic House.

Stay tuned for pics!!

The Set Up: November 29/ The Nordic House. Thank you TEAM Nordic House the exhibition looks AMAZING!! Tonight is opening night!!!

The Exhibit:

HAPPY International Day of Persons with Disabilities

November 9

XP Family Conference: Wichita, KS

Lecture & Photography: Rick

XERODERMA PIGMENTOSUM

Also known as XP, is a rare inherited disease affecting both males and females. It causes a person to be extremely sensitive to the damaging effects of ultraviolet radiation. Undiagnosed and untreated, Xeroderma Pigmentosum can lead to the early onset of skin cancer and blindness. In addition, approximately 20% of people with Xeroderma Pigmentosum also develop progressive neurological disease.

The Xeroderma Pigmentosum (XP) Family Support Group exists to improve the quality of life for people with XP and other diagnosed UV light conditions. The Xeroderma Pigmentosum Family support group strives to create awareness and educate the public about XP, as well as to raise funds to promote research, create collaborations with international XP partner organizations, and provide family grants for UV protective equipment and travel assistance for attending the annual XP national convention.

November 6

SUNY DOWNSTATE MEDICAL SCHOOL

Lecture to 1st Year Medical Students: Rick November 6

November 3

ALD Connect Family Conference

Courtyard Marriott Philadelphia Downtown, 21 N Juniper St, Philadelphia, PA 19107

Lecture and Photography: Rick

What is ALD?

Adrenoleukodystrophy (ALD) is a progressive, genetic disease that affects the adrenal glands, the spinal cord, and the white matter (myelin) of the nervous system. ALD is considered a rare disease, and affects approximately 1 in 15,000 people worldwide.

ALD Connect: Our mission is to improve health outcomes for patients with X-linked adrenoleukodystrophy (ALD) by empowering patients, raising awareness, and accelerating the translation of scientific advances into better clinical care.

November 1

de Young museum: Golden Gate Park \ 50 Hagiwara Tea Garden Drive, San Francisco, CA 94118 \ 415.750.3600

SPECIAL SCREENING: ON BEAUTY with Joanna Rudnick

POSITIVE EXPOSURE in Sweden

Our FREYA!!!

Positive Exposure was invited to Sweden by Ann Nordgren, MD, PhD, a Professor of Clinical Genetics at Karolinska Institute and senior consultant and Project Manager at the Karolinska Center for Rare Diseases (KCRD) at Karolinska University Hospital in Stockholm.  Dr. Nordgren learned about Positive Exposure upon meeting Rick in 2015 at the Coffin Lowry Syndrome Foundation conference in Wellington, FL.  At that time, the idea of a Positive Exposure in Sweden collaboration was discussed — and it finally came to fruition this year!

The Research Team at Karolinska Center for Rare Diseases (KCRD)

The whirlwind of activity began in Stockholm with a photo shoot of researchers at the Rare Disease Research Lab at Karolinska University Hospital, one of Europe’s premier health facilities. This was followed by a Positive Exposure: Seeing Beyond Diagnosis presentation and a photo shoot with Ambassadors living with unknown rare diseases as well as their families in conjunction with the Wilhelm Foundation.

Founded by Helene and Milkk, parents to Wilhelm, Hugo and Emma who passed away from an undiagnosed degenerative brain disease in their youth, the Wilhelm Foundation is devoted to seeking support to help children with undiagnosed brain diseases. With an estimated 500 children in Sweden, 27,000 in Europe and 21,000 in the USA currently living with undiagnosed brain diseases, Helen and Milkk are on a mission to spread awareness. As they explain, “When our children were still alive, we visited or sent samples to doctors worldwide, but nobody could help our children. Knowing that there are many families that will go through the same ordeal as us – where medical doctors cannot explain what is wrong, or in worse case scenario, where the child dies from a disease that nobody can identify and where nobody can help the child survive – has led us to want to help these families. We live to help the children who live today with undiagnosed brain diseases.”

After spending time with this incredible community in Stockholm as well as exploring the possibility of a Positive Exposure Exhibition at the Fotografiska Museum, we flew to the west coast of Sweden for a Positive Exposure presentation and photo shoot at Ågrenska House and Foundation. Located on Lilla Amundön, an idyllic island in Gothenburg’s picturesque archipelago, century-old Ågrenska conducts research and provides programs for children, teenagers and adults with rare diseases, their families and professionals supporting the family. Since 2005, Ågrenska has also been home to the National Competence Center for Rare Diseases in association with Rare Diseases Sweden.

As one can imagine, the two days spent at Ågrenska were beyond amazing!  And it turns out that serendipity came into play as two cousins to our Executive Director, Liz Matejka-Grossman, attend Ågrenska and just happened to participate in the photo shoot too — unicycle and all!

The purpose for photographing and gathering stories from researchers, ambassadors and families in both Stockholm and Gothenburg is to create an exhibition that captures the human spirit as well as connects one person to the next.  This unique exhibition will show the human side of the scientists in the room by sharing a little bit about themselves while also explaining what led them to become a researcher in their particular field of interest. Likewise, the exhibition will enable Ambassadors and their families to talk about life from their perspective  — their likes, their dislikes, their favorite rock band — in addition to discussing the positive impact of KCRD, Karolinska University Hospital, the Wilhelm Foundation and Ågrenska.

Meet Freya, our newest PEARLS Ambassador:

October 26-27

4th Annual DDX3X Family Conference

• The Science History Institute
  315 Chestnut St, Philadelphia, PA 19106

Keynote and Photography: Rick 

About DDX3X

October 18

Lecture to the Genetic Counseling Graduate Students: Rick

The  Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College.

Integrating education, healthcare, and humanism, this celebrated program prepares genetic counselors to work in a growing, dynamic field.

The mission of the Human Genetics program is to improve health care for all people by educating genetic counselors so they are prepared to meet current and future needs of their clients, their communities, their profession, and society at large.

Established in 1969, the program was the first of its kind in the United States. It remains the largest graduate program in genetic counseling in the world.

October 16

October 16