The world’s leading specialists were among the speakers at the conference sharing information on the history of diagnosis and treatment, state-of-the-art treatment and management of HI, the genetic explanations for the condition, and potential new treatments on the horizon.   Those attending also learned about current practices at the great centers around the world.  There were medical presentations from Dr. Charles Stanley, Susan Becker, and Amanda Lee, of the Children’s Hospital of Philadelphia, Dr. Khalid Hussain and Dr. Dunia Ismail of Great Ormond Street Hospital, Dr. Paul Thornton of Cook Children’s in Fort Worth, Texas, Dr. Morey Haymond of Texas Children’s in Houston, Texas, Dr. Jean-Baptiste Arnoux from The Necker Hospital in Paris, France, and Dr. Kusiel Perlman of Sick Children’s in Toronto, Canada.  Dr. David Zangen of Haddassah Hospital in Jerusalem was unable to attend in person but is such a dedicated supporter of HI families that he sent a talk via the Internet for conference attendees to view.  HI families gained a greater understanding of the biological basis for the disease and perspectives on treatment options.  They were also able to ask the specialists to answer all their questions.

In addition to the medical and scientific information, participants learned what it is like to actually grow up with HI from young people embarking on their own independent lives. John Williams and Rianna Sommers, who presented to the group along with their parents Pam Williams and Amy Sommers, shared their life experiences of living with the condition.   Listening to two extremely intelligent, charming, and articulate young people talk with such candor and humor about what they have gone through and where they are going was enormously comforting to the parents of younger children attending.  As a parent of a child who is on a similar journey I can say these two young people showered us with hope.

Isabel Calderone and Matt Hopkins of the CHI Board provided a presentation on the CHI Database project.  They described in detail this patient information-sharing project that provides HI families with a mechanism for sharing information that helps them learn about realities and outcomes from each other.  Endocrinologists attending provided very helpful feedback on the project.

Susan Becker and Amanda Lee provided families with excellent information about managing HI at school and some of the academic challenges that some students with HI face.

Melanie Cohen, Development Director for the HI Center at CHOP, and I spoke on advocacy and fundraising.  Our session was an interactive one and all participants, parents, patients, and physicians brainstormed together and came up with great plans for the future.

There were also opportunities for families and speakers to spend time talking and  getting to know each other at the Friday night dinner as well as at the other meal times.  Overall it was an incredibly worthwhile experience and we look forward to many similar gatherings in the future.

Julie Raskin
Vice President
CHI

CHI is very excited to announce that we will be hosting a third family conference this year on June 18 and 19^th in San Diego, California at the Bristol Hotel in downtown San Diego.  We have planned the family conference to coincide with the Endocrine Society Meeting, an international meeting of endocrinologists.  We have reached out to HI researchers and clinicians from the U.S. and around the world and are happy to report that a number of them will be speaking at our conference.

At the CHI HI Family Conference participants will learn more about HI and meet other families.  There will be opportunities to learn more about the genetics of HI and different approaches to management and treatment of children, adolescents and adults.  There will also be sessions focusing on feeding and development issues, and there will be opportunities for socializing and networking with other HI families, as well as a session on how to get involved in HI support and advocacy.

The Conference will begin in the morning on Friday, June 18^th and will run through the afternoon of Saturday, June 19^th.  There will also be a Friday night Gala Dinner at the hotel.  The conference will be held at The Bristol Hotel in downtown San Diego.  CHI has blocked some rooms at a discounted rate of $129 per night.  The rooms are singles or doubles.  The link for CHI hotel reservations is https://gc.synxis.com/rez.aspx?Hotel=17254&Chain=6158&group=CHI.  The address is 1055 First Avenue, San Diego, CA 92101, and the toll-free telephone number is 800.662.4477.

There will be a designated space at the hotel where children can play and socialize.  Parents will be responsible for caring for their children including all medical aspects of care.

The registration fee for the conference is $75 per adult.  This fee includes entrance to all the sessions and meals from breakfast on Friday, June 18 through lunch on Saturday, June 19^th, including the Gala Dinner.  The registration fee for children under 12 is $50 and also includes the Gala Dinner.

We really hope you can make it and ask that you complete the Registration Form.   Conference attendance is limited to the first 100, so don’t delay in sending in your form.  Try to make your hotel reservations early to take advantage of the special rate.  Rooms at the special rate are limited as well.  We really hope you decide to attend the conference.  It will be a great opportunity to learn and to make connections with other HI families.  If you have any questions feel free to call or send an email.

Sincerely,

Julie Raskin

jraskin@congenitalhi.org

973-566-0334

San Diego Registration Form

In evaluating the potential for this test to prevent damage caused by untimely diagnosis of HI, it is important to remember that a number of different genetic mutations are known to cause HI, and in many people, the genetic basis for HI is still not know.   The efficacy of the Counsyl test has yet to be reviewed by outside experts.   Still if the results turn out to be accurate and this test or others like it are widely used some time in the future, it could represent a great step forward for timely diagnosis and treatment of HI and other rare disorders.

Click here for the NY Times article.

Julie Raskin
V.P. Congenital Hyperinsulinism International
jraskin@congenitalhi.org

CHI Family Conference

June 18 & 19, 2010

San Diego, CA

Exact Location TBA

Congenital Hyperinsulinism International (CHI) invites you to attend the third Congenital Hyperinsulinism Family Conference.

This conference is intended for individuals with Congenital Hyperinsulinism (HI) as well as  family members and caregivers of those with HI.  Speakers and participants are invited from around the globe.

Detailed information on conference location, registration and the agenda will be posted in the next couple of weeks.  Stay tuned and please plan on attending!

Please check for updates on our website www.congenitalhi.org and on our  Facebook page as well as this very blog.

Questions?  Contact:

Julie Raskin
V.P. Congenital Hyperinsulinism International
jraskin@congenitalhi.org

Prior to the creation of NORD in 1983, many organizations that worked to improve the lives of people with rare diseases were isolated and unable to get the attention they needed to make a difference. With the establishment of NORD, their voices are now heard. A rare or “orphan” disease affects fewer that 200,000 Americans. When rare disease organizations work together on common goals, they gain strength in numbers.

NORD was created when family members and patients worked together to get the Orphan Drug Act passed. This important legislation provides financial incentives to encourage development of new treatments for rare diseases. Today, once again, NORD is advocating for its members on pending legislation, urging Congress to act on health care reform, a critical issue for people living with chronic disease.

Matt Hopkins, President of CHI sees NORD membership as a great step forward because it will put CHI in the loop on a number of important fronts including information on patient assistance programs, research grants and fellowships, and access to investigational treatments. NORD membership will also provide CHI with many opportunities to amplify its awareness and advocacy work.

Julie Raskin
Vice President, CHI

The meeting also brought together members of the newly formed CHI Scientific Advisory Group and other specialists in the field. CHI is proud to report that medical professionals who attended and participated in the meeting are among the leading HI specialists in the world. Advisors in attendance from five countries included Dr. Lydia Aguilar-Bryan, Dr. Andrew Cotterill, Dr. Diva De León-Crutchlow, Dr. Morey Haymond, Dr. Khalid Hussain, Dr. Kusiel Perlman, Dr. Charles Stanley, Dr. Paul Thornton, and Dr. David Zangen.

The meeting was extremely successful in a number of ways. For the HI families, the dinner was a great opportunity to ask advisory board members questions on a variety of HI related topics. CHI board members and advisers were able to discuss how to work collaboratively in the future to improve the lives of HI patients. Topics of discussion included remarks on current research projects, encouraging participation in scientific studies, how to increase early diagnosis and raise awareness of the condition, how to provide more support and education to families worldwide, how to help HI families in parts of the world where treatment options and medical supplies are more limited, and how best to catalog HI-related patient outcomes in order to further research.

For many, the social part of the evening was equally compelling. Many of us made new friends within the HI community. It was also a chance to get back together with old friends and to share stories of how our children have matured and grown and the challenges we still face. The teenagers among us may have been the most excited about spending time together and feeling celebrated for who they are and what they have overcome.

The dinner meeting was planned to coincide with the LWPES/ESPE 8th Joint Meeting on Global Care in Pediatric Endocrinology that was also held in New York from September 9-12. All of the endocrinologists at the dinner meeting as well as a number of CHI board members attended the LWPES/ESPE meeting, where current research on a host of pediatric endocrine topics including HI were reported on and discussed. Many of the advisers presented their research over the course of the meeting. CHI also had a booth and presented a scientific poster at the meeting. At the booth we met many endocrinologists from around the world who are treating patients with HI. It was very gratifying to meet so many knowledgeable experts who care so deeply about their patients with HI. Many of them talked about the importance of education and awareness about the condition. We hope to be in touch with many of them and to find out how we can support patients and patient groups in their countries.

Thank’s Julie.

Accuracy of Home Glucose Monitors Questioned – NYTimes.com.

Thanks Julie.

The meeting will consist of two parts.  Part One will be a Question and Answer session. Attendees will have the chance to pose questions to HI medical specialists about diagnosis, the different types of HI and their genetic underpinnings, surgical and medical treatment, daily management, feeding issues, developmental issues, the transition to diabetes for some, among other topics.

In the second part of the evening HI parents and medical professionals will enter into a discussion on the practical ways in which they can support each other to further scientific research and positive outcomes for children and adults living with HI.

As mentioned above, there will be a special teen table where teens will have an opportunity to talk amongst themselves.  They will also be welcome to participate in the Question and Answer session.

The dinner meeting will be on Friday, September 11, 2009 from 6:00 to 8:00PM.  The schedule for the evening will be as follows:

6:00-6:30PM      Drinks and Informal Discussion

6:30-7:15PM      Dinner and Question and Answer Session with the Experts

7:15-8:00PM      Dessert and CHI Scientific Advisory Group Discussion

We really hope you can make it.   If you are interested please send in the attached form.  Seating is very limited so make your reservations early.  It will be a great opportunity to meet with other HI parents and individuals with HI, as well as leading professionals in the field.  It will also be a chance to become more involved with CHI.  If you have any questions about the dinner meeting or CHI, please call or email Julie Raskin at 973-566-0334 or jraskin@congenitalHI.org.

Registration Form

Thanks Julie.