Inclusion seems to be the trend. Now NORD (The National Organization of Rare Diseases) and DIA (The Drug Information Association) are sponsoring their first meeting together and once again the focus is on the same kind of collaboration. The meeting is in Washington D.C. from October 11 through 13 and the same group of stakeholders is being brought together. There will even be a special track of sessions for patient organization members. This track will focus on everything from the nuts and bolts of running an organization to the kind of topics that are of special interest to only the rare disease community like off-label use of medications. In addition to the opportunity to hear from stars in the field from Francis Collins, NIH Director, to John Crowley, Chairman and CEO of Amicus Therapeutics and Patient Advocate Parent Extraordinaire played by Harrison Ford in the movie “Extraordinary Measures,” those able to attend will study crucial topics like the drug approval process and how to raise funds from the government. For more information about the conference you can go to the NORD website (rarediseases.org).

If you’re closer to Seoul, Korea, there’s another meeting of interest to consider attending. The World Orphan Drug Congress will meet from September 14-16 and the focus is rare disease drug development. This congress is being sponsored by Asian rare disease patient organizations in addition to pharmaceutical companies. The founder and director of China-Dolls Center for Rare Disorders in China, Yoyo Wang is one of the featured speakers! You can register for the Seoul conference by going to www.terrapinn.com/orphandrugasia.

While we’re on the topic of important conferences, please save the date for the 2012 Congenital Hyperinsulinism International Family Conference March 16-18 in Philadelphia.

For years people with diabetes have been able to purchase BSL supplies at subsidized prices in Australia. This type of support from the Australian government has been wonderful. Standard pricing for BSL supplies is very expensive. In some cases people go without testing because the cost of supplies is so high. Lack of testing can lead to poor control of blood sugar levels, which in turn, can cause serious medical complications.

In the past, children with HI were able to receive the subsidy due to their need to monitor BSL’s as frequently as people with diabetes. However, recently, applications from HI patients were rejected causing patients to be ineligible for the subsidy.

Thanks to Margaret’s excellent advocacy work, the policy has been clarified. All Australian children diagnosed with congenital hyperinsulinism (and other conditions which have hypoglycemia as part of the condition such as Kabuki syndrome and cystic fibrosis) by their endocrinologist are eligible for the subsidy. This includes children with HI using insulin pumps to deliver octreotide. All families who have been denied are encouraged to apply again.

This initiative is made possible through the National Diabetes Services Scheme (NDSS) administered by Diabetes Australia (DA). The NDSS, in addition to providing support and information to people with diabetes, delivers diabetes-related products at subsidized prices.

For further information about this contact CHI.

At the meeting members of the CHI Scientific Advisory Group including Dr. Charles Stanley, Dr. Khalid Hussain, and Dr. Paul Thornton gave presentations on the nature of the disorder, their centers, and current research. There were also updates from Dr. Diva De Leon-Crutchlow, Dr. David Zangen, and Dr. Liliana Burgos. HI patients, parents, and doctors had an opportunity to pose questions to leading experts in the field.

There was also an interesting exchange of ideas between physicians and HI family members. Topics of discussion included research and treatment news, diagnosis, an explanation of the different types of HI, genetics, surgical and medical treatment options, the occurrence rate of diabetes, and the transition to adult care. Young adult patients also addressed the group sharing their experiences of growing up with HI. Parents of HI children also shared their stories of diagnosis and the reality of raising a child with the condition.

The meeting was very international in scope. There were physicians from Israel, England, Canada, Panama, Chile, and Columbia, in addition to physicians from around the U.S. It was fascinating to learn about what is happening at centers around the world. There was also a wonderful dialogue between endocrinologists and families local to the Boston area and those from more distant places.

Matt Hopkins, president of CHI and Julie Raskin, Executive Director, shared information on CHI initiatives including the new CHI project to raise funds for research, the CHI Champion Program, and the CHI International Crisis Program. In addition to being extremely informative, the evening was very enjoyable and there was ample time for informal discussion. CHI is so thankful for all the interest in the evening and the enormous effort put forth by so many to attend the evening.

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

Isabel Calderone has created versions of the shirt in French and Spanish, which is fantastic because Rare Disease Day is an international event and we can help spread global awareness of HI. Don’t delay. Order today so you have your shirts for 2/28.

• The prevalence of international cooperation in the field. The authors are from all over the world. Their willingness to share information and work together is so beneficial to their patients. A number of the authors are members of CHI’s Scientific Advisory Group and/or have presented at CHI seminars and conferences.
• The preface includes an excellent historical overview of the disease and the tremendous advances that have taken place in recent years.
• The genetic defect for about 50% of HI cases can now be determined through genetic testing.
• Focal disease can be cured and the diagnostic tools to determine if the disease is focal have improved.
• Medical therapy has reduced the number of surgeries necessary for treating HI.
• Minimally invasive therapies have been proposed for both focal and diffuse disease.
• There is still a great need to learn about the genetic foundation for the other 50% of the cases.
• Take a look at this excellent resource! The link to the issue is http://www.sempedsurg.org/current.

I am writing to tell you about an excellent opportunity to spread awareness about HI and to share your opinions about the importance of information sharing for taking care of yourself or a child with HI. The attached electronic survey which is being conducted by NORD, the National Organization of Rare Diseases, an umbrella organization that advocates for and supports individuals living with rare diseases and the Pew Research Center, a media think tank, will be used as an important source for a research paper on how people with rare diseases gain and share information.

There are many reasons to take part in this study. One good reason is to raise awareness at NORD and Pew about HI. These are both powerful organizations and the more they know about HI, the more likely it is that HI will receive media attention. You never know, the study could be quoted in newspapers with large circulations, on TV news, or on the Internet, and HI could be part of the quoted material.

I took the electronic survey and found it very interesting. One thing that came to mind for me as I took the survey was what an amazing source of information the online HI community has been for me since I started participating in 1999 in listserv groups, websites, and now Facebook.

The electronic survey cover page will ask for a user code. You can use 1111. Please make sure to answer the questions all in one sitting and to do so within the next couple of weeks.

This is the link to the questionaire:

http://www.psra.com/nordsurvey.html

The following is an explanatory letter from NORD about the study. This letter was sent to CHI, which is a member of NORD.

Thanks so much for taking the time to fill out the electronic survey. Your experiences and opinions matter!

Julie Raskin

Dear NORD Members,

We are writing to ask you to join NORD in a very important project to raise awareness of rare diseases and the challenges encountered by patients and their families.
NORD is partnering with the Pew Research Center to conduct an informal study of how people with rare diseases obtain and share information about their diseases and available resources.

We are asking you to tell your members about this study and to encourage them to complete the short survey to ensure that as many rare disease organizations as possible are represented in this survey.

You are probably familiar with the Pew Internet and American Life Project, which has published several widely publicized studies of how Americans use the Internet. Since the Internet has particular implications for people with rare diseases, Pew and NORD feel it is important to document ways in which the Internet is used by this particular population.
It takes just a few minutes to complete the survey, and it is not necessary to answer every question. Also, responses will be partly anecdotal: Respondents will be invited to elaborate on their own experiences if they choose to do so.

This project is being done in conjunction with Rare Disease Day, and the results will be released to the press—and to all of you—in February, just before Rare Disease Day. Because Rare Disease Day is all about education and raising awareness, NORD is very happy to partner with Pew in this project designed to educate all Americans about specific rare diseases and the challenges associated with having a rare disease.

Please post the link to the survey on your website or distribute it in other ways to your members. The survey will be available for just three weeks, so it is important to distribute this information as soon as possible. Please also feel free to post the link on Facebook, Twitter or any other communications channels that you use. NORD will be doing the same.

We appreciate your help in this project and—even more—your support for Rare Disease Day and its goal of raising awareness across our nation and around the world of rare diseases as an important public health concern.

Link to online survey: http://www.psra.com/nordsurvey.html

Sincerely,

Peter L. Saltonstall
NORD President and CEO

For many folks with HI, the disease and the lifestyle fostered by the disease make eating just plain miserable, and not just during the holiday season.   As many of you know far too well, many babies, toddlers, and children with this disorder have no desire to eat.  Ironically, the consequences of not eating are huge.  A meal missed can cause severe hypoglycemia, a threat to the developing brain.  It’s like a cruel joke.  These kids must eat to save their brains from damage, yet eating is so unpleasant for many of them that they all but refuse to eat.  Just imagine the stress on the parents.

Even worse than the picture described above is the fate of those children who do not receive a timely diagnosis.  Those babies and children have parents and doctors who don’t know they must eat precise amounts at precise intervals, and also often need additional medication and sometimes surgery to control hypoglycemia.  These poor children are at great risk of neurological damage.

What makes this situation so frustrating is that the majority of these kids could lead perfectly healthy lives with no neurological damage if a proper and timely diagnosis were made.

Five years ago a group of concerned parents and caregivers of children with HI set up this nonprofit organization dedicated to improving the lives of children and adults with HI.   Our vision is a world where timely diagnosis is routine, proper care and support is afforded to every patient and family dealing with the disease, and ample funding is available for every excellent research project leading to an effective treatment or cure.

Today is the second day in my new role as CHI’s first executive director.   This is a great honor for me and I hope to help CHI raise its profile to benefit all the people living with HI all around the world.  The CHI board and I will need lots of help from volunteers and donors to make our voices heard.  We are counting on your help.  As we enter this season of holiday gift giving, please consider making a contribution in honor of a loved one to CHI in support of this incredibly worthy cause.