Congenital Hyperinsulinism International

Thursday October 10th, 2019
by Janna Pelle

Natural History Repeats Itself

Natural History Repeats Itself: My journey promoting and participating in natural history studies

When I first heard the words “natural history study,” the only thing that came to mind was the Museum of Natural History – and I had no idea if the two “natural histories” were related in any way. Now, I understand why the museum got it’s name.

A natural history is a study that follows a group of people over time who have, or are at risk of developing, a specific medical condition or disease. The museum, similarly, is an observation of the natural course of events in the animal kingdom – evolution, extinction and everything in between.

For the last couple of years, one of my biggest priorities working for CHI has been creating awareness through social media of the HI Global Registry – the first patient-powered research project that aims to become a natural history of congenital hyperinsulinism.

This year, I found out just how important being a part of a natural history study truly is – by being a part of one myself.

I traveled from Brooklyn, NY to the National Institute of Health (NIH) in Bethesda, Maryland to participate in the RUNX1 mutation natural history study.

rare disease research testimonial

“Don’t worry, all of your information will be de-identified,” said my research physician at the NIH, reassuring me that my medical information would not be attached to my name; this was exactly the same language I had used when I helped craft messages about the HI Global Registry for the CHI community earlier that week. She continued, “This is a natural history study, which means it is purely observational. We aren’t able to guarantee any treatments at this time, but your participation is so valuable because the more people participate, the more we will be able to recognize patterns.”

Sound familiar? (If you follow CHI on social media, it should!)

First, a little background on why I began working in the rare disease space in the first place: my dad was diagnosed with a rare blood cancer, MDS, or myelodysplastic syndrome, in 2013. After he died, just short of a year later, from complications of a bone marrow transplant, I became determined to raise awareness of MDS, and do something positive for the rare disease community. I started a position at the MDS Foundation as social media manager, and on Rare Disease Day 2015, I met Julie and was introduced to the world of hyperinsulinism.

Little did I know it, I had a rare disease myself.

It’s so rare it doesn’t really even have a name, but if you had to call it something, it would be thrombocytopenia with a functional platelet granule storage pool deficiency – I also recently found out I have RUNX1 and BCOR mutations, which are both associated with the type of blood cancer (MDS and Leukemia) that my dad and grandmother had. Apparently researchers are trying to understand the correlation between low platelets/functional platelet disorders and this type of genetic mutation.

So, when my hematologist informed me about this natural history study, (a term I now more than recognized) taking place at the NIH, I knew it was the right thing to do to join it – not to mention, I would be a hypocrite if I didn’t participate, wouldn’t I?

The whole process made me gain a greater understanding of the importance of a natural history study. The doctors, researchers and nurses were all so warm and appreciative of my participation. Talking to them and getting to know them better made me see how truly valuable my participation was – and gave me a greater appreciation for the HI Global Registry. It is no easy feat to start a rare disease registry, and it is no simple task interesting people in a study leading to their participation in a patient registry. I am 1 of around 100 people worldwide who have been identified with a RUNX1 mutation invited to participate in this study (makes me pretty special, don’t ya think?).

The HI Global Registry, in its very first year of existence, already has over 250 participants. HIGR consists of 13 online surveys. It does take a big effort to complete all the surveys, and yes, for some, it may seem tedious, but it does not require anyone to relocate for additional testing, take days out of their busy lives, and have a painful bone marrow biopsy … for those who are unfamiliar with the process, it’s basically a giant syringe-straw that breaks through a little bit of my hip bone and suctions out the bone marrow. It leaves you feeling like you were kicked in the back, really, really hard. I would say most of the pain lasts about a week, but I was sore for a long time afterwards. I had to do all of the testing described above for the RUNX1 study.

But even through all the inconvenience and discomfort, I felt so good at the end of trip. I had always wanted to be able to donate bone marrow to help those like my Dad – but I never could because of my low platelets. By participating in this study I am able to give back in another way, which will hopefully contribute to future generations of daughters not having to lose their fathers at such a young age.

As a member of the Jewish faith, I consider this kind of thing – giving to future generations in the name of science – a mitzvah; an act of kindness, a good deed, a duty. I believe it is our moral responsibility to do what we can while we can for something bigger than ourselves, and I’m incredibly grateful I had the opportunity to participate in a study and to work to increase participation in the HI Global Registry.

Thursday June 13th, 2019
by Julie Raskin

Circling Back to Riding: This Time for a Cause

Guest blog post by Julie Krcmaric

In mid-March, I received a message from a high school friend. We had lost touch over the years but recently reconnected when both our children were diagnosed with rare disorders, throwing us both into the unknown. Her message read that the Liberty Science Center was hosting a free Rare Disease Event for rare disease patients and their families. I knew the stars would have to align to get Emmeline, my 3 year old daughter with multiple different rare disorders and a medical problems list a mile long, her nurse, my mother, and me to the event but I was going to try!

On Saturday, March 30, I walked into the main event room at the Liberty Science Center where lunch was being served and I immediately saw the CHI table right next to the NORD table. Standing behind the tables were familiar faces and I immediately knew the stars were meant to align that day. I had a great conversation with Julie Raskin, catching up since the last time I saw her. I’ve known all along that I wanted to be more involved in the Rare Disease community but up until this point, Emmeline had been medical unstable and often too sick for me to make commitments. I asked Julie what events were coming up that I could participate in and she immediately told me about the Million Dollar Bike Ride in Philadelphia in June. It almost felt too good to be true.

In my life before Emmeline, I was a cyclist. My journey started on road bikes in the mid 90s riding all Spring, Summer, and Fall with my mother. We would ride anywhere from 10 to 30 miles multiple times a week. By 1996, my cycling career took a different path and I started racing BMX bikes. Around 1998, I started traveling all over the East Coast and racing in Nationals all over the country. I had won state championships and earned top 10 spots in my age group over the years. My BMX career last through high school, college, grad school, and move across the county. In October 2014, I had to hang up my bike as I found out I was pregnant. I figured I would take a “maternity leave” from racing and start back up once Emmeline was a few months old. That plan never came to be as Emmeline’s medical needs took up all my time and moved me back to the East Coast.

So, when I heard of a bike ride to help raise funds for research, I could feel my life before Emmeline connecting with my life with Emmeline. I am not going to lie, I was nervous! I was committing to riding 13 miles on a road bike. It had easily been 15 years since the last time I took my road bike for a ride. I knew I had been spinning twice a week for almost 2 years, so how bad could this be? I took the leap, committed to raising funds, and used this as motivation to stay healthy and at least get back on my bike for a day.

CHI Million Dollar Bike Ride

The morning of Saturday June 8th started with alarm going off hours before it normally does. My husband, mother, and I got up and got ourselves ready. I had packed my trusty riding capris with the extra padding to make me a little more comfortable on the ride. I put on my team CHI jersey and decided I at least looked the part of a cyclist. We then woke up Emmeline and took care of most of her morning care. We got into the car and headed to Philly. I knew I would be riding with the 16 year old son of close BMX friends. I felt those nerves start to surface again as we pulled into the parking lot and I could see the starting/finish line … this was really happening. I put my bike together, put on my clip shoes, got Emmeline in her stroller and checked in for the big day!

The ride consisted of 784 riders representing 34 different rare disorders. Everyone was riding either 13 miles, 34 miles, or 72 miles. My ride group was the last to take off and I was ok with that! I clipped in to my pedals and started moving. In no time at all, I felt comfortable on the bike that sat in the garage all these years. I took the ride slow and enjoy the scenery of the Schuylkill River. The weather was perfect for a bike ride, not too hot, not too sunny, and just enough of a breeze to stay comfortable. I chatted away with my riding companions and before I knew it, we were at the rest stop. I couldn’t believe it! I had successfully navigated 5.5 miles and in no time at all.

charity bike ride for hyperinsulinism

Of course I checked my phone which included updates from my husband about Emmeline. Her sugar was 77 and he was feeding her breakfast and would bolus her fluids thru the g-tube once she was done with her oral feed. I had a snack, took some pictures, and jumped back on the bike to complete the rest of the ride. During the next 2 or 3 miles, I remembered just how much I loved riding. It occurred to me that after all these years off my road bike, I still had it. I started thinking of all the rides that I could do once I got home. My passion for cycling was reignited. I finished the ride strong and quickly realized I probably could have handled the 34 mile ride. My new goal is to do the 34 mile ride next year and the 72 the year after!

CHI 2019 million dollar bike ride

We do not plan as Emmeline, from go, is not a “planner.” She does things her own way and on her own time. That being said, my hopes for this summer include many bike rides. I can’t wait to re-explore all the old rides and bike paths that got me started in my cycling career back in the mid-90s. Emmeline’s birth lead me away from cycling, into a medical world of rare disorders that most medical professionals have never heard of. Yet, those same rare disorders have led me back to cycling.

charity bike ride participation for CHI

Tuesday June 4th, 2019
by Julie Raskin

The 20th Anniversary of the Hyperins Yahoo Group

Today is a special day in the annals of congenital hyperinsulinism (HI) families. It is the 20th anniversary of the very first message sent to members of the Hyperins Yahoo Group. This group provided a method of efficient communication via email for families living with HI. On June 4, 1999, Jim Nestor, the moderator of the group sent out a message to the 3 members of the group:

“Hello and welcome. This is the first official posting to the group. I am very excited about the possibilities for this discussion group. We had gone about a year before we knew of and were able to talk to another family with
HI. It was such a big help to speak to others going through the same situation. I hope that this service will help others.”

And help it did. Over the course of many years, there were thousands of messages sent and shared and countless discussions about preventing hypoglycemia, HI diagnosis and treatment, feeding, development (sharing precious milestones and fears of delay), disability, parenting, siblings, daycare, school, marriage, divorce, hair, weight, the transition to diabetes for some, and many more topics.

A few days ago, I asked Jim why he started the group. He said: “I remember Dr. Stanley asking if we would like to talk to another HI family or two. I felt like we were completely alone in this until that point. You both were so helpful to us. Just to speak to another family who could relate to what our daily routine was, and share information was such a help.”

Jim was referring to the 3 original family members. To begin with, there were 3 members of the group, including Jim. Over time, the group grew to include hundreds.

Another early member shared:

“The HI group was a lifeline, and Jim was a terrific moderator. As the group grew, several of us recognized similarities with other families and were able to help each other out with information about schools and IEPs, dealing with social issues, health care professionals, and experimental treatments.”

The anniversary floods me with memories of sitting in our little home office in 1999 and the early 2000’s, feeling comforted and supported by families from all over the world, as I wrote, read, and responded to messages. One night our son’s G-tube came out, and we were going to go to the emergency room to have a new one placed. The day before, the same thing happened to another child with HI somewhere else in the world, as reported by a mother in the Hyperins group. That mother described how she replaced the g-tube herself, and that it was a rather easy process. With that message fresh in my mind, my husband and I decided we could give it a try, and we were successful, saving our son from the trauma of an emergency room visit.

There were many small and large triumphs as a result of Hyperins, as well as simple sharing and listening. From its humble beginnings, Hyperins paved the way for the first Congenital Hyperinsulinism Family Conference organized with CHOP in 2003, the creation of Congenital Hyperinsulinism International in 2005, and HI groups and organizations in several countries around the world–making it possible for the patient community to expand from self-help to improving the lives of people born with HI all over the world. This work has included raising awareness of hyperinsulinism to prevent death and brain damage, supporting research with pilot grants and the HI Global Registry, many conferences and meetings bringing the whole hyperinsulinism community together, new drug development, and many support programs for HI families.

Today, communication between parents of children with HI, other family members, and individuals living with the condition has mostly migrated to social media platforms. The Congenital Hyperinsulinism International Family Forum on Facebook has over 1,300 members from 66 countries and is buzzing with activity, and there are other groups as well, where there is a tremendous amount of communicating going on in many different languages, and in different countries around the world.

On this 20th anniversary of a very special milestone for the HI community, I want to thank Dr. Charles Stanley for encouraging families to communicate with each other and Jim for being the first to bring us together online.

Tuesday April 16th, 2019
by Julie Raskin

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

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.

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