Congenital Hyperinsulinism International

Monday April 24th, 2017
by Janna Pelle
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Dr. ChangHong Li is Raring To Go for CHI!

Read about the 2016 Congenital Hyperinsulinism Research Project funded by the Raring to Go for CHI Million Dollar Bike Ride team!

If you can’t attend the ride in Philadelphia on May 20, you can still raise funds for research by creating your CrowdRise team using your #StopTheLows photo here:

https://www.crowdrise.com/raringtogoforchi2017

It is SO IMPORTANT that we continue to raise funds for more HI research – The University of Pennsylvania will match every dollar we raise up to $50,000 for a total of $100,000. Email jpelle@congenitalhi.org for a #StopTheLows photo if you don’t yet have one, or with any questions about setting up your team! LETS GO!

Million Dollar Bike Race Grant Winner

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Friday April 21st, 2017
by Janna Pelle
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Dr. Diva De León shares why she’s Raring To Go for CHI!

Are you Raring To Go for CHI? The 2014 Grant Recipient, Dr. Diva De León, is! Read about the 2014 Congenital Hyperinsulinism Research Project funded by the Raring to Go for CHI Million Dollar Bike Ride team, and why she’s joining us by RIDING FOR RESEARCH in The Million Dollar Bike Ride for Orphan Disease Research!

If you can’t attend the ride in Philadelphia on May 20, create your CrowdRise team using your #StopTheLows photo here:

https://www.crowdrise.com/raringtogoforchi2017

It is SO IMPORTANT that we continue to raise funds for more HI research – University of Pennsylvania will match every dollar we raise up to $50,000 for a total of $100,000. Email jpelle@congenitalhi.org with any questions about setting up your team or for a #StopTheLows photo if you don’t yet have one! LETS GO!

Million Dollar Bike Ride

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Friday March 17th, 2017
by Janna Pelle
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Rare Disease Patient Advocate Cristina Pindado Goes Back to School

Cristina Pindado, the mother of a child born with congenital hyperinsulinism (HI) is President of the the Spanish Association for those Affected by Congenital Hyperinsulinism (AFHICO). Cristina often collaborates with CHI representing HI advocacy, support, and research initiatives in Spain and all of Europe. In addition to being an active patient advocate, Cristina is highly creative and has produced several excellent short films on HI.

 

And now Cristina is back at school participating in a workshop for patients with rare diseases and their caregivers that is called “Beyond the Disease Itself.” This workshop is organized by the Clinical and Molecular Genetics Area and the Rare Diseases Unit of the Vall d’Hebron Hospital (Barcelona), together with the Spanish Federation of Rare Diseases (FEDER).

 

In creating this program, there is a recognition the patient voice is critical to ensuring positive health outcomes. More and more, patients and caregivers are partners in research and development for new treatments and they drive awareness campaigns, in addition to caring for themselves and their loved ones.

 

Programs like this help to fill the knowledge gap so that patients and their caregivers are better equipped to participate in projects that assume a certain level of knowledge about genetics, science and medicine. “Beyond the Disease Itself” is a pioneering training initiative in Spain that aims to increase information and knowledge on all common elements in rare diseases and basic medical terminology. The training is divided into eight sessions in which participants can expand their understanding of topics such as: the functioning of the human body, genetic studies, congenital anomalies, issues of diagnosis, multidisciplinary consultations, research in rare diseases, clinical trials, and an overview of European resources and organizations for rare conditions.

 

In Spain there are 3 million people affected by rare diseases and each has an incidence of less than 1 per 2000 people. Although they are diseases in which the conditions usually differ significantly from one to another, it is frequent that the affected ones and their families face common challenges.

 

This is a fantastic introductory initiative that will allow attendees access and participation in more advanced courses, participation in multidisciplinary meetings, and an opportunity to collaborate with others in the rare disease world to affected and their families.

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Wednesday March 15th, 2017
by Janna Pelle
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Welcome, Katherine Hinchliffe, the newest member of the CHI Team!

The CHI Team is proud to announce our new Program Manager, Katherine Hinchliffe!

“I am so thrilled to be joining the staff of CHI.” Katherine has been a volunteer with CHI for 6 years and first became involved through her relationship with a CHI family. We are thrilled to have her!

“I’ve been honored to help launch the first CHI major fundraising event in Montclair, NJ and other projects. Now I will be doing that in a more formal capacity and my background as a non-profit executive and special events manager for both arts and health-related organizations will help bring CHI’s programs and services to the next level.”

Katherine lives in Glen Ridge with her husband and has two daughters. When she’s not working, her hobbies include enjoying and participating in classical music and attempting to cook every recipe in the Ina Garten Barefoot Contessa cookbooks.

We are excited for what this year will bring– CHI is growing its capacity to better serve its mission, improving the lives of people living with HI! This is a huge step forward for HI research, support, and awareness.

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Friday September 16th, 2016
by Julie Raskin
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Welcoming Jacqui to CHI!

NORD Summit, at the Gateway Marriott, Crystal City, on Thursday, October 22, 2015.  John Boal Photography

NORD Summit, at the Gateway Marriott, Crystal City, on Thursday, October 22, 2015. John Boal Photography

Welcome to CHI!
CHI is thrilled to announce Jacqueline Kraska will be joining the CHI team as the HI Global Registry Manager on September 26. We want to extend a very warm welcome to her. By way of introduction, Jacqui has the following message to the HI community:
“Hi everyone, it is an absolute pleasure to be joining the CHI team, and I look forward to working with the community to support invaluable research and the growth of this terrific organization. A little bit about myself, I’ve spent the last 15 years working in research and development.

I have worked for the National Institute Health Research in the UK and have also overseen research and development services at a large National Health Service Trust in Devon on the coast of England. Two years ago I returned to the United States where I was raised in Connecticut and started my role at NORD, where I managed their research grants and registry program for the last two years.

In addition to my career, I have lived in Hong Kong for 5 years, travelled many areas of the world and written a novel called Agents of Movement. When I have time I continue to write, though dedicate my profession to research – especially in the rare disease space where I appreciate its unique challenges, and the drive and strength of its passionate patient community. “

The goal of the HI Global Registry is to enhance and increase interest in congenital hyperinsulinism (HI) research, advance the ability to diagnosis and treat HI and improve the quality of life of those living with HI. By putting the information from HI individuals in one powerful database, issues related to HI, such as how it presents, impacts of various treatments and other disease-related problems, become more evident. One international registry of HI patients receiving a variety of treatments around the world will create greater understanding of the disease than what many smaller collections of information could accomplish.

Using a database program developed by the National Organization for Rare Diseases (NORD), Congenital Hyperinsulinism International will launch the HI Global Registry, which will offer surveys to parents of HI children and individuals with HI about their HI experience. The answers to these surveys will be stored in a secure and private manner, with parents and individuals having the full control of what information can be seen. Surveys will include questions regarding diagnosis of their HI, treatments they have received, symptoms they have experienced, developmental assessment, diet-related issues, other relevant health information, and ability to access treatment and supplies.

The HI Global Registry Protocol and questionnaires are being developed by the Registry Steering Committee. Its members include leading international HI experts and Patient advocates.

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