Congenital Hyperinsulinism International

Tuesday April 16th, 2019
by Julie Raskin
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When it isn’t Hyperinsulinism

One of the missions of Congenital Hyperinsulinism International is to be there for all who journey through the diagnostic odyssey, often leading them to a diagnosis of congenital hyperinsulinism. Sometimes, along the way, hypoglycemia continues to be present, but it is not clear the cause is hyperinsulinism. Danielle’s story is one such story and we bring you a letter from Danielle Drachmann about her family’s journey:

When It Isn’t Hyperinsulinism
By Danielle Drachmann

Our Story
At different times in my life, I experienced different problems and issues like excessive activity, restlessness, poor planning and disorganization, lack of focus, issues with multitasking, memory loss, on-going depression and years of the eating disorder, bulimia. At some point I was a mental wreck.

The psychiatrist had no doubt he knew the cause of it all; “I suffered from ADHD.” I was doped with very high levels of Ritalin (methylphenidate). After that, I was admitted to the hospital. The health care team suspected cancer, but it turned out my condition was just a reaction to a high dose of Ritalin my psychiatrist had prescribed for me.

I then made the decision to stop my ADHD medical treatment, and three months later I became pregnant with our son Noah.

The first symptom: low blood sugar
We thought Noah was born with HI. He was 2 days old, when we were admitted with a blood sugar of 0,8 mmol. After 4 weeks with 50% glucose, he was better. The doctors and nurses told us he had outgrown his transient HI. We came home, and tried to start a normal life, with a baby who screamed whenever he wasn’t eating. He screamed so much that the hospital made an appointment for him with the infant psychiatrist. In his first year, he was seen by the neuro team, to ensure Noah was not brain damaged from his transient HI at birth. He developed perfectly according to their scale, and they calmly told us not to worry at all.

Even though he continued to scream whenever he didn’t eat…Little did we know; something was so very wrong.

Our first seizure
When Noah was 17 months old, and big brother to 6-week-old-Savannah, he had a seizure one morning. The paramedics measured his blood sugar to be 1,2 mmol (21.6 mg/dL). Sadly, for Noah, and us, Noah was admitted in the weekend, where there is a lack of hospital staff. No action was taken, and we were told to come back a few months later to do a safety fast. We took Noah and a glucose monitor home, terrified that our child might die in our care, while waiting for the fasting test.

A specialist doctor and a diagnosis
A week later, Noah was low again, and was admitted with a blood sugar of 2,6 mmol (46.9 mg/dL). The hospital decided to do an emergency fasting test. Finally, Noah was transferred to the HI specialist, Henrik Thybo Christesen at Odense University Hospital, also in Denmark. After a long wait for genetic testing, Noah was diagnosed with idiopathic ketotic hypoglycemia. Translated into human language; Low blood sugar with ketones, with no known genetic cause.

After Noah was diagnosed, I was finally able to focus on baby Savannah, who had nursed every 30 minutes for the entire first 17 months of her life. One night, she was also admitted to the local hospital with high ketones and a blood sugar of 3,7 mmol (66.7 md/dL). The pediatric endocrinologist told us to just give her some more food.

Glucose monitors and ambulances
Yeah… right… My 17-month-old girl with thighs as big as her tummy, was starving. No, I did not buy into that. Not by a long shot… It didn’t make sense that she should need to eat more.

I reached out to Dr. Henrik Thybo Christesen, Noah’s doctor. He gave Savannah a Dexcom (continuous glucose monitor), and asked me to cut down on her nursing at night time, to see how her body would react. Savannah reacted the very first night, and was admitted to the hospital by ambulance…. Savannah is now also diagnosed with idiopathic ketotic hypoglycemia, just like her brother.

And me. I am not an ADHD patient – even though many of my symptoms are similar. As it turns, out, I am a ketotic hypoglycemia survivor, and a mother of two warriors, fighting a disease most doctors know nothing about.

Magic buttons and new-found enthusiasm
With their tubies (g-tube) and their magic button (Dexcom, CGM) they live life with an enthusiasm and passion I can only admire.

Our hope of a cure, a treatment and a patient support organization quickly crashed, when we discovered how little knowledge there was about ketotic hypoglycemia. Luckily, we heard about Congenital Hyperinsulinism International, and this became our safety zone of likeminded families and specialists from all over the world.

Even though we don’t produce too much insulin like the HI patients, our symptoms are very much alike. Low blood sugar, caused by too much insulin, or low blood sugar caused by an unknown metabolic disease, is still the same life-threatening hypoglycemia.

What’s next?
I will make an effort to unite the forces of the great team of patients, families and specialists that are a part of Congenital Hyperinsulinism International, and all the families living with ketotic hypoglycemia around the world. I have created www.hypomom.com where I share stories, tips and tricks, and show that hypoglycemia is indeed something you can live with – and live well!

To all of you parents who cried like me when you realized that the doctors believed you didn’t feed your child. To all of you parents who cried when genetics testing came back without an answer, and to all of you parents who everyday are fighting to normalize daily life of a child with a rare disease:

You. Are. Not. Alone.

Best regards,

Danielle

Tuesday March 12th, 2019
by Julie Raskin
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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
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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: jraskin@congenitalhi.org.

Monday October 8th, 2018
by Julie Raskin
Comments Off on Today is HI Global Registry Launch Day!

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
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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.

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