Last month I wrote about Dr. Winfried Barthlen, The Surgeon from Griefswald, Germany who has conducted research on and treated patients with atypical segmental mosaic congenital hyperinsulinism. You can now read all about his approach as well as about other congenital hyperinuslinism services and practices in Germany on the COACH website.

COACH is actually a consortium of centers throughout Germany working together to create an alliance to maximize positive outcomes for people born with congenital hyperinsulinism.

Congenital Hyperinsulinism International is very pleased to be in contact with this wonderful new consortium. Please take a look at the COACH website at www.hyperinsulinism-coach.com. German speakers can go to the German language website at www.hyperinsulinismus-hilfe.de.

Here is the link to the press release: http://www.eurekalert.org/pub_releases/2011-03/uom-tbf031511.php.

A link to the study abstract can be found here: http://diabetes.diabetesjournals.org/gca?gca=diabetes%3Bdb10-1443v1&submit=Get+All+Checked+Abstracts

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.

More relevant to us, news media sources reported on promising results in research studies on the artificial pancreas. This phase of research involved controlling the blood sugar of pregnant women with Type 1 diabetes. The results were mostly positive and you can read all about it here: http://articles.latimes.com/2011/feb/02/news/la-heb-artificial-pancreas-20110202

Some HI patients and parents wonder if any of this research will lead to a medical device that will be helpful to patients with HI. A device that automatically controls blood sugar levels for HI patients as well as those with diabetes would be “a dream come true.”

CHI will interview artificial pancreas researchers and HI researchers to learn more about the applicability of this research to the HI population. We’ll report back on our findings here.

In the meantime, an excellent chronology of research on the Artificial Pancreas Project and other milestones in the treatment of diabetes can be found on the Juvenile Diabetes Research Fund Website. Take a look: http://www.artificialpancreasproject.com/milestones/default.html

The article profiles Pat Furlong’s herculean effort to save her children from early paralysis and death caused by the rare genetic disorder, Duchenne. Ultimately, she was unsuccessful in staving off their death but she was highly successful at building a Duchenne Research Empire and helping other children born with the disease. While a cure has not yet been found, Pat Furlong is responsible for improving the lives of people with the disease and for putting the disease on the map by bringing together the world’s leading specialists in the field, parents, and government entities. She has raised millions and millions of dollars to bring the world closer to a cure for Duchenne.

She is unorthodox in her methods to say the least. She is dramatic, convincing and extremely knowledgeable about the disease. And she is funny to boot. I love this quote: “Most researchers and physicians will do anything to avoid meeting distraught mothers…”

That quote got me thinking about how truly blessed we are in the HI world to have researchers and clinicians who choose of their own free will, with no arm twisting, to spend hours at our parent conferences meeting with parents, and teaching them about the disease and how to be patient advocates. I hope you read the article and are inspired by Pat Furlong to work with our wonderful HI community on breakthroughs to improve the lives of people living with HI.

Here is the link to the abstract of the New Yorker article:

http://www.newyorker.com/reporting/2010/12/20/101220fa_fact_colapinto

You can email me for a full copy, go to the newyorker.com to pay for a digital copy of the article, or buy a copy of the magazine at your favorite newsstand.

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

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.

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

If the needle becomes detached from the syringe during use, it can become stuck in the insulin vial, push back into the syringe, or remain in the skin after an injection, the company said.

Consumers who have these products should stop using them and contact the company at 800-444-4011 for more information. Adverse reactions can be reported to the Food and Drug Administration at http://www.fda.gov/medwatch/report.htm.

HI patients taking insulin or octreotide injections.

Read the full article at Daily Finance.