Congenital Hyperinsulinism International

Tuesday March 12th, 2019
by Julie Raskin

Rare Disease Day in the Garden State

New Jersey is often referred to as the “Medicine Cabinet of the World” because many of the leading global pharmaceutical companies are headquartered in New Jersey. Yesterday, New Jersey was also a world hub for rare disease patient advocacy. On a sparkling spring-like day, we gathered at the New Jersey State Museum in Trenton for the 8th Rare Disease Day Event in Trenton, NJ. People living with rare diseases, their family members, rare disease advocates, legislators, members of the biotech, pharma, and other industry supporters all came together to share information, network, and learn from each other.

The morning was jam packed with interesting panels and speakers. The Keynote Speaker was Tammy Murphy, First Lady of New Jersey. Ms. Murphy shared grim statistics on maternal and infant mortality in New Jersey and her resolve to make conditions better. Ms. Murphy’s important cause resonates with our rare disease community because of preventable deaths that also occur in our community, as a result of untimely diagnosis and lack of treatments. Ms. Murphy also presented the Governor’s 2019 Rare Disease Day Proclamation signed by Phil Murphy, her husband, and the Governor of New Jersey.

The state legislators on the real-world advocacy panel shared their deep commitment to accessing quality and affordable healthcare and the importance of advocating for these issues. Jennifer McGarry, Regional Director of Advocacy for the Leukemia and Lymphoma Society moderated the discussion. Assemblyman Dan Benson, Assemblyman Adam Taliaferro, and Assemblywoman Nancy Munoz shared stories and experiences from their own. Assemblywoman Munoz is an advanced practice nurse and Assemblyman Adam Taliaferro has had serious medical issues to contend with. He jokingly referred to himself and Assemblywoman Munoz as the “patient and the nurse of the New Jersey legislature.”

Assemblyman Dan Benson, the sponsor of the Out-of-Pocket RX Cost Bill S1865 and a longstanding advocate for access to quality and affordable healthcare, presented a resolution for the New Jersey legislature commemorating Rare Disease Day.

We also received an update on the Out-of-Pocket RX Cost from Steve Butterfield, Regional Director of Government Affairs for the Leukemia and Lymphoma Society. The bill A2431 and S1865 would help ensure all patients have access to affordable care by limiting out-of-pocket costs for prescription drugs, putting medically necessary treatments within reach of New Jersey patients.

Our second panel of the day was moderated by Stephanie Fischer, a leading rare disease patient advocate who is a member of the Rare Advocacy Movement. Ms. Fischer shared her personal experience with rare disease and how it has informed her career. The panelists focused on the importance of early diagnosis and the consequences of late diagnosis, the role of genetic testing in diagnosis, the need for new and better treatments, the impact of rare disease on families, and how rare diseases organizations can help.

Meghan Yarnall spoke about her daughter’s diagnostic odyssey and not accepting autism as the diagnosis, which eventually led her to discover her daughter’s medical and developmental issues are the result of the rare disease Lamb-Shaffer Syndrome, which in turn led her to found the organization Show Me Your Genes, to help people get access to genetic testing and fully understand the testing process. Kristen Smith who is the NJ Advocacy Chair of CureSMA shared her history with SMA, the difficulties of living independently, working, and commuting with a rare condition. Throughout her detailed presentation, Kristen showed her extraordinary ability as an advocate, and her mastery at conveying the complicated life a person with a rare disease leads. Amanda Levine spoke about the two rare diagnoses she has received in her life, the difficult road to a diagnosis of ALS, and the consequences of that late diagnosis, making it impossible to qualify for clinical trials. It was very moving to learn about how Amanda stays positive and lives a very full life, always with her teenage children in mind. I shared how personal stories can lead to organizing for research, support, and awareness, the excitement in our community over this week’s first dosing of a medication in a phase three clinical trial in a child with congenital hyperinsulinism, and last year’s launch of our patient-powered research project, the HI Global Registry.

Networking and connecting was a big part of the morning and lunch. Mothers with babies roughly the same age, and with the same rare condition, met for the first time! There were chronic disease advocates who came to support their rare allies. Those who typically interact only with others in their specific rare disease community were happy to come together to feel the support of those in the larger rare disease community. As is always the case at these events, the news from those who attend year in and year out was mixed; happy milestones for some, and sad news from others.

John Slotman of BioNJ, Wendy Lazarus of Pfizer, and Sam DeAlmeida of the American Cancer Society were instrumental in creating opportunities for members of the rare disease community to meet with legislators. In the afternoon we walked over to the State House and camped out in Committee Room One. We were visited by Assemblywomen Annette Chaparro of the 33rd District, Nancy Pinkin of the 18th District, Angela McKnight of the 31st District, and Christopher DePhillips of the 40th District. Assemblywoman Yvonne Lopez of the 19th District was kind enough to stop by as well, but we were still making our way to the State House and unfortunately missed her. In between visits, Sam DeAlmeida coached us on best practices for meeting with legislators. Her instructions were excellent, and she offered to hold a longer training session for us soon.

We are so grateful to the NORD Rare Action Network for providing us with the structure and support to put on such an event. A big shout out to BioNJ, HINJ, NORD, and Soligenix for making the day possible as our sponsors. A special thanks to all who were on our planning committee this year. Their dedication to planning really helped make it a special day. A heartfelt thank you to Renee Merlino for volunteering to photograph our event year after year.

Saturday December 22nd, 2018
by Julie Raskin

A Diazoxide Shortage In India

As many of us are planning to gather with family and friends for holiday celebrations, there are families in India who will run out of the lifesaving medicine they need for their children. There is a shortage of Eudemine (diazoxide) in India and no word of when it will end. We have contacted the manufacturer, the suppliers, the aid organizations that typically help us in these situations, and physicians from abroad with a deep concern for these children. Today, we are unable to solve this problem due to laws and regulations about how medications are imported into India. We are hoping the situation resolve soon, but…

It shouldn’t be this way.

As the situation in India gets more and more dire, children in Peru and Venezuela will soon be receiving the medication they need, as a result of partnerships we have with Teva and Direct Relief.

This is the reality of our work. As we make great inroads into helping our global community, there continue to be areas where there are patients with great unmet need. In October we launched the Hyperinsulinism Global Access Survey, so we can better understand the nuances of the access issues around the world. We have created wonderful relationships with patient families, pediatric endocrinologists, organizations and companies dedicated to getting medication to the people who need it. We’re hopeful we can help more and more people in our rare community with these access issues.

Yet as of today, Shreyansh, who is 3 years old will run out of diazoxide on December 25, and he is not the only one. There are many others in India. Shreyansh is under the constant care of his mother, Kalpita, who is using all her ingenuity and energy to keep Shreyansh’s brain safe from prolonged hypoglycemia. Their struggle is our struggle. If anyone has ANY thoughts or ideas about how to help the children of India who are without their diazoxide, please contact me:

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.

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