CHI Blog

On a trip in June to Geneva, Switzerland for his day job, Matt Hopkins (President of CHI) spent a day in Paris, France to visit the HI group at the Necker Children’s Hospital in Paris.  He met with Dr. Jean-Baptiste Arnoux, an HI doctor.  He is part of Pr. De Lonlay’s HI medical group.  Over cups of coffee, they discussed differences in health care systems and the impact on patient and family support needs, how HI cases are diagnosed and managed in France, and various patient, family, and medical community concerns.  Matt delivered some education and awareness pamphlets, all translated into French.  There is some new famiy support group there, which we are following up on to build stronger connections and identify shared goals.

For those planning to attend the CHI Conference in San Diego on June 18-19, we recommend registering for the conference and making hotel arrangements as soon as possible.

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!

CHI is happy to announce that there are still spots open for the Congenital Hyperinsulinism Family Conference 2010, which will take place on June 18^th and June 19^th at the Bristol Hotel in San Diego.  The agenda is shaping up to be quite exciting.

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!

If you’re nearby around May 6 and 7, Matt Hopkins, President of CHI, will be on a business trip for his day job.  He would like to take some extra time off and meet you.  If you’re interested in discussing diagnosis, treatment, support for HI families and children, specific details of how your medical system manages (or not) HI, what facilities you have access to, etc., please let him know ASAP (he’s making travel plans very soon).

He’s particularly interested in discussing regional charity/support organizations.

Contact him at MHopkins@CongenitalHI.org

As a bit of a follow up to the last post about genetic screening, I thought this article by Dr. Benjamin Glaser might be a good addition.

Here is an exerpt:

Mutations in ABCC8, KCNJ11, GLUD1, GCK, and HADHSC are known to be associated with FHI. About 45% of affected individuals have mutations in ABCC8 and about 5% havemutations in the coding region of KCNJ11. Approximately 5% of individuals have activating mutations in GLUD1. Rarely, affected individuals have activating mutations in GCK or inactivating mutations inHADHSC. About 40% of individuals with FHI do not have an identifiable mutation in any of the genes known to be associated with FHI. In the Ashkenazi Jewish population, two ABCC8 founder mutationsare responsible for about 90% of FHI. Another ABCC8 founder mutation, V187D, is present in the Finnish population. Mutation analysis for these two mutations and mutation scanning and sequence analysis of ABCC8, KCNJ11, GLUD1, and GCK are available on a clinical basis.

Find the full article here.

Qualitest Pharmaceuticals in Huntsville, Alabama, USA has announced a recall of 250 million insulin syringes.

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.

You can send a request to be added to the CHOP (Children’s Hospital of Philadelphia) mailing list for parents by e-mailing hyperinsulinism@email.chop.edu with a subject of “[Add me to the CHOP mailing list for parents]“, and include:

Your name
Your mailing address

If CHOP doesn’t know your child, indicate whether you are willing to share your child’s name, diagnosis, and where they were treated.

Indicate whether CHOP can contact you about research studies you might be interested in.

Lori has found an intersting article abstract about newborn molecular genetic testing in Europe.

http://www.endocrine-abstracts.org/ea/0016/ea0016pl5.htm

We’re very pleased to announce that we’ll be attending the Lawson Wilkins Pediatric Endocrine Society / European Society for Pediatric Endocrinology 8th Joint Meeting on Global Care in Pediatric Endocrinology in New York, September 9-12, 2009. The URL for the conference is http://www.lwpes-espe2009.org. We will have a non-profit booth in the vendor area. If you’re going to be at the conference, please stop by and say “Hi!”.

In addition to running a booth for outreach, we will also have a more technical poster presentation, “Global Outcomes for congenital Hyperinsulinism” summarizing some of the HI outcomes our international community has collected from 20 countries. I think we have a really unique breadth of experience that is not found in any one other organization.

And finally, we’re organizing a dinner for some doctors, parents, families, and CHI members! The date is set: Friday, September 11. Come back here for more details on the when and where.

This is an exerpt from a new textbook for diagnostics aimed at pediatricians.  This section is co-written by Dr. Vaneeta Bamba and Dr. Diva D. De León-Crutchlow.

De León-Crutchlow was asked to be on our Scientific Advisory Group.

This is a nice complement to the article by Glaser posted by Andie.

http://www.wrongdiagnosis.com/h/hypoglycemia/book-diseases-20a.htm

Find The 5-Minute Pediatric Consult on Amazon.

Thanks to Lori for this post.