Announcements

Two physicians added to CRN Medical Advisory Board

CRN is  pleased to announce the addition of two physicians to our Medical Advisory Committee, Dr. Rachel Bishop, an ophthalmologist at the National Eye Institute/NIH and Dr. Mihir Thacker, an orthopedic surgeon at Nemours/Alfred I. duPont Hospital for Children in Wilmington, DE.  Dr.Bishop has been involved with the cysteamine eye drop protocol and in the treatment of cystinosis patients at the NIH for some time.  Dr. Thacker is an orthopedic surgeon with an interest in the bone disease consequences of renal disease.  Both of these physicians fill a long time unmet need on our advisory board.  We are grateful for their commitment to the cystinosis community and to the Cystinosis Research Network.

Raptor Scholarship Fund launched in honor of Rare Disease Day

In February, the world celebrates the 7th annual Rare Disease Day, coordinated by EURORDIS (Rare Diseases Europe) and NORD (National Organization for Rare Disorders) with events in over 70 countries.  To help raise awareness of cystinosis as a rare disease, KnowCystinosis and Raptor Pharmaceuticals Inc. would like to offer you a free Rare Disease Day T-shirt. Take a photo of yourself, a friend, or family member wearing the shirt and holding a sign that describes what you want the world to know about cystinosis. Upload your photo with your message to KnowCystinosis.com, and Raptor will donate $10 per e-mail address submission, up to $2,500, to the Raptor Scholarship Fund.

http://knowcystinosis.com/rare-disease-day/

Cystinosis Community Celebrates Rare Disease Day through Med Art

Recently, Jen Wyman and Clinton Moore began posting inspirational arrangements of their children’s morning pills on Facebook, some happy, some sad, some representative of quotes that moved them in the moment, all meant to express their appreciation for their family each day. Enjoy the compilation taken from Jen, Clinton and many other parents and individuals living with the disease as the “Med Art” movement took hold on Facebook, inspired by Rare Disease Day.

Marybeth Krummenacker to participate in “Navigating the Diagnosis and Care of a Child with a Rare Disorder”

Rare Disease Day 2014: Join Together for Better Care, Pediatric Grand Rounds- Rutgers New Jersey Medical School, February 28, 2014

Newark, NJ, February 18, 2014 – On February 28th, 2014, we acknowledge and celebrate Rare Disease Day, a day that encourages us to continue finding ways to work together to provide comprehensive care for people living with rare diseases, RNJMS’s Department of Pediatrics, with the support of Recordati Rare Diseases, will host, during their Pediatric Ground Rounds, a parent/patient panelist discussion about the diagnosis and care of children with rare disorders.

According to the article, “Physician and Patient Perceptions Regarding Physician Training in Rare Diseases: The Need For Stronger Educational Initiatives for Physicians1” published in the current issue of The Journal of Rare Disorders (JRD), patients living with rare diseases visit an average of 7.3 physicians before receiving an accurate diagnosis. In this large survey of patients, family members, physicians and allied health care professionals, the authors also identified a high level of physician interest in helping patients with rare diseases and, the need for additional physician education about referral programs for rare diseases.

Dr. Beth A Pletcher, a RNJMS Medical Geneticist, will use the above publication as a springboard to facilitate a discussion between the patient/parent panelists listed below. We anticipate that participants will broaden their knowledge-base about rare disorders which enable them to recognize patterns of signs and symptoms or rare disorders leading to more prompt subspecialty referrals (when indicated) and ideally rapid diagnosis. Participants will also learn more about how to navigate the diagnosis and care of children with rare disorders, including ways to efficiently access physician educational materials and parent support services.

Panelists scheduled are:

  • Mary Beth Krummenacher- Cystinosis (Cystinosis Research Network)
  • Donna Appel-Hermansky Pudlak Syndrome (HPS) Network Inc.
  • Sue Cogswell- Leighs Syndrome (United Mitochondrial Disorders Foundation)
  • Susan Cohen-Fragile X Syndrome (FRAXA)

Who should attend

Faculty physicians, community physicians, advance practice nurses, staff nurses, social workers, house officers , medical students and interested community members

About Dr. Beth Pletcher

Dr. Beth A. Pletcher is an Associate Professor of Pediatrics at Rutgers New Jersey Medical School. She received her BS degree in Biology from Stanford University in 1978 and her MD from Rush Medical College in Chicago, IL in 1982. Dr. Pletcher completed three years of residency training in Pediatrics at Children’s Hospital of Los Angeles in 1985, and fellowship training in Human Genetics and Pediatrics at Yale University School of Medicine in New Haven, CT in 1987. She served on the Board of Directors of the American College of Medical Genetics (ACMG) for six years and is a past Chair of the American Academy of Pediatrics (AAP) Committee on Pediatric Workforce (COPW). She was the first Chair of the AAP Section on Genetics and Birth Defects, is a past liaison to the AAP Committee on Genetics, and is currently serving as an expert group member for the Academy Genetics in Primary Care Institute Quality Improvement Project. Dr. Pletcher also serves on the University Hospital Bioethics Committee. She is the Co-Director of The Neurofibromatosis Center of New Jersey. She is a Fellow of the American Academy of Pediatrics and a Founding Fellow of the American College of Medical Genetics. Her clinical and research interests include: neurofibromatosis, autism, Fragile X syndrome, craniofacial disorders, cancer genetics, public policy on genetic screening, genetic education for primary care providers, as well as pediatric workforce issues.

About the Panelists

Marybeth Krummenacker
Marybeth’s daughter Laura was diagnosed with cystinosis 25 years ago and this firsthand knowledge has allowed her to share the real stories of exactly what it means to live with and manage a rare disease, both the good and the bad. Laura has been a part of Dr. William Gahl’s study at the NIH since she was 3 ½ years old and received her kidney transplant in September of 1999. She has handled every “bump in the road” with grace, humor and a true fighting spirit!
Marybeth is one of the founding members of the Cystinosis Research Network (www.cystinosis.org) and serves on their Board of Directors. She is also continuing her second term on the Board of Directors of NORD (National Organization for Rare Disorders) as well as on the Executive, Advocacy and Membership Committees.


After graduating from State University of New York at Farmingdale with a degree in business and working many years in the health insurance industry, Marybeth has worked as the Assistant to the Public Information Officer of her local township for the past 17 years

Donna Appell
When Donna Appell learned that her baby daughter Ashley suffered from a rare genetic disorder that would kill her in thirty years, she knew she had to do something. In 1992, Donna formed The Hermansky-Pudlak Syndrome Network Inc. Twenty years later, she and this organization were the recipients of a Resolution from the New York State Assembly commending the outstanding work and achievements of the HPS Network, Inc (www.hpsnetwork.org).

Moreover, Stanford University School of Medical Ethics Film-Maker in Residence followed Appell for three years and chronicled the efforts of the HPS Network to recruit patients into a phase three drug trial for pulmonary fibrosis. The documentary “RARE” has been seen on PBS, won film festivals, and has been used frequently as Medical Curriculum for many healthcare disciplines. www.rarefilm.org   .  

Ms. Appell graduated Magna Cum Laude and was awarded the Veritas Medal for Outstanding Alumni and was employed for 22 years as a RN in the Critical Care Open Heart ICU at St. Francis Hospital. In 2002, Ms. Appell was appointed to the American Thoracic Society’s (ATS) Public Advisory Roundtable. She is a Director and Scientific Advisor for the National Organization of Albinism and Hypopigmentation

Susan Cohen
Susan and her husband had not heard of Fragile X when their 2 year old son Julian’s genetic testing results came in. They just knew that his pediatrician first noticed at 10 months of age some “mild global delays”.

Since then, Susan and her husband have been very involved in local Fragile X conferences in New York and New Jersey, participated in Advocacy Day on Capital Hill and had their family’s personal essay published in the anthology “X Stories: The Personal Side of Fragile X Syndrome”.
Susan has served on the board of FRAXA, a
parent-run nonprofit organization finding a cure for Fragile X Syndrome. She is a literary agent and the proud mother of Julian, “truly one of the happiest people I know”.

Sue Cogswell
Sue Cogswell is a devoted mother to her daughter, Kelly, who has Leighs Disease with a defect in Complex 1. She and her family have been strong supporters and activists of the United Mitochondrial Disease Foundation, the advocacy organization promoting research and education for the diagnosis, treatment, and cure of mitochondrial disorders as well as providing support to affected individuals and families . Sue is a registered pediatric nurse.

About Recordati Rare Diseases:

Recordati Rare Diseases (RRD) Inc, headquartered in Lebanon, NJ, began marketing products to treat rare diseases in 2013. Recordati Rare Diseases (RRD) Inc is a member of the Recordati Group, which consists of Recordati S.p.A and Orphan Europe. The Recordati Group, a global pharmaceutical group, was established in 1926 and now has more than 3200 employees worldwide. RRD’s mission is to partner with patients, healthcare providers, advocacy and industry to make products available to treat rare and severe diseases.

About Rare Disease Day

Rare Disease Day is an annual, awareness-raising event co-ordinated by EURORDIS at the international level and by National Alliances and Patient Organizations at the national level. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. The campaign targets primarily the general public but it is also designed for patients and patient representatives, as well as politicians, public authorities, policy-makers, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases., visit http://www.rarediseaseday.org/article/what-is-rare-disease-day

Contact:

Iveth P. Mosquera, MPA

Project Manager

Medical Science Building, Room C-595

New Jersey Medical School

Rutgers, The State University of New Jersey

185 South Orange Ave.

Newark, NJ 07103

p: 973-972-1216/2498

c: 973-461-9931



Carol A. Dutch

Manager, Sales, Marketing and Advocacy

Recordati Rare Diseases

100 Corporate Drive.

Lebanon, NJ 08833

This email address is being protected from spambots. You need JavaScript enabled to view it.

c: 949-637-5199

"Living with Cystinosis: A Closer Look" patient video now available

“Living with Cystinosis: A Closer Look”. This video is now available at http://www.youtube.com/watch?v=eT8DB34Ktnk and offers information about the symptoms, impact and management of the ocular effects of cystinosis. In addition, it provides valuable first-hand insights for people with cystinosis about how to fit the condition into their daily lives. Sigma-Tau Pharmaceuticals partnered with CRN in its creation.

 

Kidney Camp at Frost Valley - 2014 Applications Available

Hello friends, families and colleagues!

Initial applications for Kidney Camp at Frost Valley YMCA for Summer 2014 are now available at http://www.frostvalley.org/kidney!

The deadline for initial application materials is March 15th.  Please submit initial application and medical summary by fax or email as soon as you can, so that we identify camper's needs and talk with your team about any issues.  Please do NOT send labs, dialysis flow sheets, or transfer summaries until June!