Congenital Hyperinsulinism International

Monday October 8th, 2018
by Julie Raskin

Today is HI Global Registry Launch Day!

Since 2005, Congenital Hyperinsulinism International has been sharing the patient experience to advance the scientific understanding of congenital hyperinsulinism (HI). We have shared the patient story on our website, at meetings, and on social media with story after story of what it is like to live with the condition.

As our focus on awareness has ramped up, we have seen what we can call a boomlet in interest in our rare disease from centers of research and biotech companies. There are now many investigational research projects in the HI space with more to come. We are just thrilled about this because there are so many babies, children, and adults living with HI without an effective or desirable treatment. For many, current treatment options include adverse health effects or unwanted side effects, removal of the pancreas leading to diabetes, inadequate blood sugar level control putting patients at risk of neurologic damage, or blood sugars in control, but a family out of control because of the effort needed to keep blood sugars in a normal range. Hooray for this research activity!

We’re confident that our next step, today’s launch of the HI Global Registry (read today’s press release here), will accelerate HI research activity leading to new and better treatments.

“We know from other rare disease communities that bringing the patient voice into the research process helps makes new treatments available. And now we have a way to offer more than just anecdotes and opinions. Through the creation of a patient-reported natural history study, we can provide researchers with scientifically sound, pooled information that includes all of our HI experiences.” – Davelyn Hood, MD, MBA, Principle Investigator of the HI Global Registry

The HI Global Registry will improve the understanding of HI, and advance research for better treatments and patient care. The registry consists of a series of online surveys that asks the participant questions about the patient’s experience with HI over his or her lifetime. This information is then de-identified and combined with other de-identified patient data from around the world. These data sets have rich and unique content because they include the personal experience of living with HI.

Since the HI Global Registry is a natural history study, the perception might be that we have to wait a generation to truly understand the natural history of the disease.

“The good news is that the HI Global Registry will be a great source of information to
researchers even in its earliest stages. The registry is collecting retrospective data AND data about current experiences. The study is also longitudinal with patients coming back to report on a regular basis.” – Isabel Calderon, Co-Investigator, HI Global Registry

CHI has developed relationships with patient families going back a generation, so we expect to have very interesting data almost from the get go.

Another phenomenal aspect of the registry is its role in supporting clinical trials with potential recruits. Participants will be able to select to learn of clinical trials they may be eligible for.

In the rare disease space, finding the right candidate for a clinical trial can be one of the most challenging aspects of research design. The HI Global Registry will be an excellent tool for finding individuals who fit a study’s criteria and are interested in learning more about potentially participating.

“What’s special about the HI Global Registry approach to information and communication is that participants can set their own preferences. They can decide to ‘opt in’ to receiving information about clinical trials or networking opportunities. There is a lot of choice.” – Jacqueline Kraska, Research and HI Global Registry Director

The HI Global Registry is not only for researchers; it will be a tool for people living with HI and their families. Charts and graphs with composite information about how the entire community has responded to survey questions will be available to participants. These graphs and charts, and reports created by CHI for the patient family community, will be a powerful resource.

Finally, patient-powered HI research could have far reaching implications for the population at large. Glucose levels are of major interest to the general population because of the public health issues related to diabetes and obesity. There have been many examples of how the study of a rare disease has led to a better understanding of common health problems. We believe the HI Global Registry will also be of interest to researchers and people who are not affected by the rare condition; our research may have important implications for understanding blood sugar levels in the general population.

CHI is the sponsor of the HI Global Registry which has its own steering committee comprised of patient experts and scientist/physician experts from leading patient organizations, universities and hospitals where HI is treated and studied. These dedicated and brilliant professionals from around the world have dedicated hours of their time to get us to launch day and beyond. The HI Global Registry Steering Committee will continue to work with us on the ongoing governance and project-related activities of the Registry. The full list of the HI Global Registry Steering Committee members is available here.

With the launch of the HI Global registry, life is getting sweeter. We are confident that patient-powered research will create an HI research boom and will set us on a path to “stop the lows!”

– Julie Raskin
Executive Director, CHI

Monday September 17th, 2018
by Julie Raskin

CHI Roller Coaster

Last Saturday was CHI Roller Coaster Day at Luna Park and it was a blast! It was a summery gorgeous day on the shores of the Atlantic Ocean. Luna Park is in Coney Island, Brooklyn right next to the beach, and is home to the historic wooden roller coaster, the Cyclone, built in 1927, as well as many other rides and smaller roller coasters for children.

CHI Roller Coaster Day was sponsored by Luna Park. They so generously donated wristbands for all who came, allowing CHI families and friends to unlimited rides at the amusement park. They also fed us and gave us a party room! CHI families and members of the CHI Sugar Soirée Junior Committee participated and CHI Volunteer Extraordinaire, Julie Sheldon, coordinated with Luna Park to make this day possible.

We all know that sometimes life with HI feels like a roller coaster, dealing with blood sugar levels that can be all over the place, as well as with the emotional strain of worrying about the effects of low blood sugar. It was truly wonderful to be at this iconic amusement park and for ROLLER COASTER to have positive connotations for the CHI Community on this glorious day! We’ll keep you posted about the possibility of this becoming an annual event.

Click here to see a slideshow from the CHI Roller Coaster Day.

Monday July 30th, 2018
by Julie Raskin

A Texas Welcome for the #CHIFAM2018 Conference

The 2018 Congenital Hyperinsulinism Family Conference in Fort Worth, Texas organized by Cook Children’s and Congenital Hyperinsulinism International (CHI) took place over last weekend, July 27-29.

150 people gathered including kids with HI, their siblings, parents, physicians, researchers, and members of the Biotech industry.

“Everything I heard this weekend was of benefit and provided me with new knowledge,” said one participant.

Participants learned all about congenital hyperinsulinism through presentations from specialists, panel discussions, small group interactive sessions, speed dating with the specialists, the sharing of family stories, and informal time for getting to know each other. From reports on new innovative treatment projects to living with HI from the perspective of the young people who live with it, there was something for everyone.

The conference was made possible thanks to sponsorships from members of the biotech community including Sweetest Sponsor: Rezolute, Gold Sponsor: Zealand, Silver Sponsor: Crinetics, and Bronze Sponsors: AmideBio and Xeris.

One participant said the most meaningful part of the conference was “hearing from other families about the struggles they go through on a day-to-day basis and knowing we are not the only parents going through the stresses of living with HI.”

Jennifer Schmitt, CHI Program Manager, said “The best thing about the conference for me was seeing all the kids having a great time.”

Adjacent to the conference room was the kids’ activity room. A volunteer staff organized by Cook Children’s put together a day and a half of fun for the HI community children attending the conference.

CHI is indebted to Cook Children’s for partnering with us on an incredible two days, lending so much expertise to the conference faculty and all the volunteers for the kids’ program. Experts from around the world also traveled to Fort Worth to share their expertise with conference participants.

Participants left with a sense of hope that there will be an even better understanding of HI in the future, with better treatments and a small army of HI advocates to raise awareness of the condition to save lives and prevent brain damage.

Tuesday July 10th, 2018
by Julie Raskin

A Chance to Take a Breath

HI Mom Sara Bernstein stars in this short video about what it is like to be the parent of a child with hyperinsulinism (HI). In “Sugar Baby” she shares scenes from her life, taking care of her children and the struggles to balance life and fulfil her desire to have some time for herself, to further her career, all while being constantly vigilant of her daughter’s HI care. It is a moving and beautiful film and when Sara finally gets to “take a breath,” it is a true triumph. The video, in the Hebrew language with English subtitles, is produced by Tamar Poupko, Achinoam Hacohen-Kerner, and Ayala Dana. The film was directed by Sara’s niece for a school project. Watch the video at this link:

Monday May 21st, 2018
by Julie Raskin

Raring to Go for CHI in 2018!

Yesterday, Congenital Hyperinsulinism International (CHI) took part in The Million Dollar Bike Ride for Orphan Disease Research for the fifth consecutive year. Sunday, May 20, 2018 was another magical day! For those new to the event, it’s the day of the year when people living with rare diseases and their communities come together in Philadelphia for a bike ride. There are short and long rides, but all who are riding are raising awareness of rare diseases and funds for pilot projects that may lead to new treatments and cures.

Every year, CHI has a small but mighty team. Leo Brown has been the Raring to Go for CHI Team Captain for 5 years and has done a fantastic job of getting us to over $300,000 raised for hyperinsulinism research. Leo was with us again yesterday and had a great cheering squad of family and friends in Philly.

This year’s team included Dr. Charles A. Stanley, Founder of the Congenital Hyperinsulinism Center at CHOP. Dr. Stanley is the only person to ride all 5 years! I had hoped to share that distinction with him, but a sore knee kept me from riding this year. Dr. Stanley was joined by an enthusiastic crew of children and grandchildren on the ride.

Dr. Lisa States not only heads up the PET Scan hyperinsulinism study at CHOP that leads to cures for many babies and children with focal HI, she’s a dynamo on her bike, and rode 34 miles yesterday along with her husband.

This year, Dr. Amanda Ackermann, an attending physician and HI specialist at CHOP, joined the ride. She rode 72 miles! We are so impressed with her dedication to the cause.

Dr. Changhong Li, a research scientist at CHOP focusing on fuel metabolism in islets and regulation of insulin secretion in congenital hyperinsulinism also joined the team for the second year in a row.

My husband Mark not only rode the 34-mile course for the 4th year in a row, he drove 400 miles the day before so that our son Ben who was in Vermont, finishing up his junior year of college, could be “reunited for a cure” at the Million Dollar Bike Ride. Ben has not been able to master riding a bike because of challenges resulting from prolonged hypoglycemia due to HI, but Ben is “Raring to Go for CHI,” and he worked the CHI table at the event with Clinical Research Nurse Coordinator at CHOP, Susan Becker, and CHI Board Member, Sheila Bose — two of CHI’s most dedicated supporters and volunteers.

Chris Wilson, Director of the Orphan Disease Center at Penn Medicine, shared with the crowd that since the ride’s inception, over 6 million dollars has been raised for Rare Disease Research. Pretty Amazing!

Since we know that not everyone in our community can make it to Philadelphia, we have created an opportunity to create remote fundraising Crowdrise teams. There are currently five teams and there’s still time to create more: All the funds raised by these teams will contribute to the 2018 Raring to Go for CHI research award, and the funds raised by these teams will also be matched by the University of Pennsylvania. Funds can be donated to this cause through June 15, 2018. Choose any team you like or start your own! You can also donate on the CHI website for the cause: We are beyond grateful to all who have contributed to this year’s research funding cycle either by donating directly to this event or through any other donations to CHI.
[acx_slideshow name=”CHI Bike 2018″]

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