Browsing Posts published by Julie Raskin

Journal Issue Devoted to HI

January 21, 2011 Julie Raskin 1 comment

The February 2011 issue of the medical journal, Seminars in Pediatric Surgery, is solely devoted to articles on congenital hyperinsulinism. This issue of the journal is an excellent resource on the disorder and it is online and available to all. While the journal is intended for people with a medical background, there are a number of articles that will interest the lay reader. Some highlights from the issue include:

• 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.

Announcements, Books / Publications none

Care About Rare

January 13, 2011 Julie Raskin No comments

Rare Disease Day is February 28, 2011. This is our day to grab the spotlight and focus the world’s attention on rare diseases, specifically, our disease: Congenital Hyperinsulinism (HI). We have 45 days to plan our strategy so we can make the most of this day.

I had the pleasure of visiting the National Organization of Rare Disorders (NORD) earlier this week. NORD is a fantastic umbrella organization for rare disorders. The folks at NORD are passionate about making life better for people with rare diseases and they are the U.S. organizers of Rare Disease Day. CHI and many other patient organizations have joined with them to make this February 28^tha day to be remembered.

In honor of the day, CHI is launching the Care about Rare Campaign and we want all of you to join us in this endeavor. Folks might ask, why Care about Rare? Why care about a disease that affects so few people? Well, the answer is obvious. Each and every life is precious and needs to be lived to the fullest. Those born with a rare disease need answers and cures just like those of us who suffer from common ailments. “Sorry, there aren’t funds to develop treatments for that rare disorder” should never be heard.

We live in a society that prizes many things rare: rare beauty, rare talent, rare intelligence, rare jewels, even rare truffles. So why not rare diseases?

Please take a moment to think about what you can do to raise awareness about HI and rare diseases in honor of this day? Look at the list below or write or call me to brainstorm about how you can be a part of this. I can be reached at jraskin@congenitalhi.org or 973-544-8372

Hold a Care About Rare Event on February 28^th in honor of the day. It can be a fundraising or raising awareness event. Call or email me for help in planning your event.

Share your stories with us. CHI will publish them on our blog under the heading HIstories. Don’t worry about length. Just a paragraph or two is fine or more also works. Send us a high-resolution picture to go along with your story, if you like.

CHI has already become a Rare Disease Day partner and is representing all of your interests. As individuals, you can also become a Rare Disease Day Ambassador. You can go to the NORD website to do so (rarediseases.org).

Make a 30-90 second video about your experience with HI. Send it to the rarediseaseday.us website for inclusion in their video library. We’ll also put it up on the CHI website.

The new Congress has just convened. Don’t waste a second. Contact your representative and request that he/she join the Rare and Neglected Diseases Congressional Caucus. You can check the NORD website to see if your representative is already on it (very few are). The Caucus helps focus attention on rare diseases.

Together we can make the world Care about Rare!

Fundraising, Outreach none

Mother Power – A dose of Inspiration

December 19, 2010 Julie Raskin No comments

Put down whatever it is you are doing and pick up the latest copy of the New Yorker, December 20-27, 2010. If you’re anything like me you’ll read the article entitled Mother Courage by John Colapinto and you’ll be moved. If I wanted to advocate for a better life for people born with congenital hyperinsulinism (HI) before I read this article, I now want to do nothing else.

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.

In the News none

Online Survey to Raise HI Awareness

December 9, 2010 Julie Raskin No comments

Dear CHI Friends,

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

Announcements, In the News, Outreach, Research NORD

This Holiday Season

December 2, 2010 Julie Raskin 1 comment

I read somewhere recently that the average person gains two pounds between Thanksgiving and New Year’s Day. Every year, this pesky little fact haunts our waistlines as November turns to December and then January. This seems like a big deal to those of us trying to wiggle into our holiday party finery. Yet, it’s really inconsequential when we compare this to what many of our friends with congenital hyperinsulinism (HI) go through every day of their lives.

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.

Announcements, Fundraising, Outreach none

The CHI 2010 Family Conference

August 15, 2010 Julie Raskin No comments

Congenital Hyperinsulinism International (CHI) held the third Congenital Hyperinsulinism Family Conference on June 18^th and 19^th in San Diego. About 50 people gathered to learn together, share experiences and brainstorm about how to continue to spread awareness about congenital hyperinsulinism (HI) and advocate for people living with HI.

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

Announcements, Conference none

Family Conference Invitation

February 28, 2010 Julie Raskin 1 comment

Dear HI Families,

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

Announcements, Conference, Outreach Family Conference, San Diego

Saliva Screening for Genetic Mutations

February 1, 2010 Julie Raskin No comments

Carriers of a genetic mutation caused by the ABCC8 gene which can result in children with congenital hyperinsulinism (HI), can now be tested at fertility clinics in many locations around the country through a simple saliva test. The test, made by a California company, Counsyl, actually screens for 100 different rare disorders including HI. An article in the January 29th, 2010 New York Times describes the potential benefits as well as some possible negative consequences of widespread testing.

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

Diagnosis, In the News, Testing ABCC8, genetic, screening

Save the Date: CHI Family Conference – San Diego – 2010

January 20, 2010 Julie Raskin No comments

Save the Date

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

Announcements, Conference, Outreach Family Conference, San Diego

CHI Accepted into NORD

December 7, 2009 Julie Raskin No comments

In November, CHI (Congenital Hyperinsulinism International) qualified for membership to NORD, The National Organization for Rare Diseases. “This is really good news for CHI,” said Isabel Calderon the CHI Board of Directors liaison to NORD. “With this membership, CHI will be able to benefit from NORD’s many resources and services.”

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

Announcements, Outreach NORD

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