Dinner meeting participants will have an opportunity to speak informally on a range of topics with members of the CHI Scientific Advisory Group comprised of leading world specialists in the field of HI. Dr. Paul Thornton from Cook Children’s in Texas, Dr. Khalid Hussain from Great Ormond Street in London, and Drs. Charles Stanley and Diva De Leon-Crutchlow from the Children’s Hospital of Philadelphia will be among the physicians attending. Physicians and researchers will share information about their projects, research and practice.

This meeting is intended for adults and young adults with HI and HI parents. There is a great need for HI patients and parents of children with HI to be in a direct exchange with the physicians who treat the disorder in an educational setting. HI requires vigilant care. Left untreated HI can lead to poor neurological outcomes including mental retardation, learning disabilities, low vision or blindness, ADHD, and a host of other issues. It is paramount that those with HI and their caregivers receive up-to-date information on how best to care for the disease to optimize development and reduce poor neurological outcomes.

Physicians also learn a tremendous amount from HI patients, parents and caregivers. Exchanges between physicians, caregivers and patients in programs such as this one provide physicians with the kind of information necessary to propel their research further and improve their medical practice.

New ideas and practices are often generated when HI physicians and patients get together. The Endocrine Society Meeting in Boston is a wonderful opportunity to bring the HI community together for collaboration.

Seaport Dinner Invitation

The Genetic Diseases of Children Conference, which is taking place in New York right now, is just such an event. Yesterday, I had the opportunity to attend the conference and was desperate to get to know all the speakers and conference attendees because they all have stories and information that is so important for the entire rare disease community.

This is truly an amazing conference because it brings together in large numbers patient organization advocates, scientists and biotech experts, government officials, physicians, and even patient-oriented social media entrepreneurs. It is a chance for a very rare kind of collaboration where the patient’s experience and well-being is really the central concern.

The luminaries in these fields are at the conference, sharing, teaching and learning. Sharon Terry, parent of two children with a genetic disorder and founder and CEO of the Genetic Alliance is both a moderator and a speaker, stressing the importance of groups working together across diseases to increase our power as one community, and as a way of exploring novel treatments for particular disorders. Pat Furlong, the mother of two sons who lost their battle to Duchenne Muscular Dystrophy and CEO of Parent Project Muscular Dystrophy, and recently the subject of a New Yorker profile, was the moderator of an excellent session on “The Impact of Diagnosis from Birth to Adulthood.” The New Yorker article really captured her real life presence, with all its doggedness and invincibility.

James Lupski, a giant in the field of Genomics, was a very illuminating panelist on the subject of sequencing the human genome and the promise of therapeutic benefits from this kind of work. He was able to convey the power of these approaches to both the lay person while keeping scientists in the audience interested. James Heywood, who was inspired to start the superb and innovative website, PatientsLikeMe.org, after his brother succumbed to ALS, was an impassioned speaker. It was a great pleasure to meet him as he is really a pioneer in the field of data sharing among patients. Jamie has brought information sharing to a new level and has managed to convince many of the validity and necessity of this work. There are also extremely focused parents of very sick children just embarking on this journey, without a moment to spare, rabidly networking, searching for better care options for children.

For all of us searching for a better tomorrow, the Genetic Diseases of Children Conference contains a universe of resources. I’m attaching the link to the Conference website so you can all explore the agenda and learn about the speakers. I am hoping that this meeting, the first of its kind sponsored by the State of New York Department of Health, becomes a regular event. The URL for the conference is http://www.wadsworth.org/events/genetics/. While you’re hear check out our gorgeous Congenital Hyperinusulinism International T-shirts, available in three languages and many styles and sizes at: http://www.cafepress.com/Congenitalhyperins

Although Canada has yet to catch up to the US and EU in creating an infrastructure for rare disorder funding and research, there are interesting research programs in place and advances are being made towards newborn screening.  An additional difficulty for the treatment of rare disorders in Canada is that each province has its own legislation and regulations.  This mostly affects access to orphan drugs.  Luckily diazoxide and octreotide are available throughout Canada.  Introducing a new drug for the treatment of HI would be a long battle.

Raising awareness amongst the medical professionals in order to increase timely diagnosis of HI is needed in Canada as much as it is elsewhere.  With the emergence of newborn screening for rare disorders we are motivated to work with the medical experts to put together a protocol for HI new born screening.  The fact that CHI has few contacts with HI families from Canada also raises the necessity to increase our visibility in the different provinces to make sure we can offer support to all those whose child is being diagnosed with HI.  CHI is working hard to tackle these challenges and counts on the support of its members for continuing progress.

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

The Bristol Hotel, where the conference will take place, would like a final count of registrants this week, so if you are planning to attend and haven’t yet registered, please send in your registration form to Randy Hart.

The Bristol Hotel is now sold out of rooms for the conference but we have reserved another block of rooms at the Sofia Hotel, which is a block away from the Bristol.  The room block at the Sofia will be held until June 6.  If you are interested in coming to the conference and reserving at the Sofia, you can call the Sofia Hotel at 800.826.0009 and let them know you are part of the CHI 2010 group. After June 6, the rates will revert back to the regular non-discounted rate.

This is a very busy time in San Diego and accommodations near the conference site will be difficult to find as we closer to the event.

We hope you can make it!

There will be Reports from Some of the Leading Treatment and Research Centers from Around the World and Lectures on: the History of HI Treatment and Research; Understanding the Scientific Underpinnings of the Condition, Why we Gather Data; Managing HI at Home and at School; Understanding Genetic Test Results; HI in Infancy, Toddlerhood, Childhood, the Teenager Years and Beyond; and Becoming a Part of HI Advocacy and Fundraising; as well as other topics.    We’ll also hear from some young adults who have lived their whole lives with the condition and have learned to successfully manage it on their own.  There will be many opportunities to ask questions and learn from leading world specialists, as well as time to get to know other HI families.

The faculty for the conference include Dr. Jean-Baptiste Arnoux from Necker Hospital in Paris, Dr Khalid Hussain and Dr. Dunia Ismail from Great Ormond Street Hospital in London, Dr.  Morey Haymond from Baylor College of Medicine, Dr. Paul Thornton from Cook Children’s Hospital in Fort Worth, Texas, Dr. Charles Stanley, Susan Becker, Amanda Lee, and Melanie Cohen from the Children’s Hospital of Philadelphia.

Send an email to Julie for any questions you may have:  jvraskin@aol.com.

Also find the registration form here.

We hope you can make it!

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

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