CHI Blog

Congenital Hyperinsulinism International information sharing

By Julie Raskin

Congenital Hyperinsulinism International (CHI) held the fifth Congenital Hyperinsulinism Family Conference at the NH Milano 2 Hotel in Segrate, Italy just outside of Milan on September 17 and 18, 2013.  It was an intensive two days of presentations on many aspects of congenital hyperinsulinism, from the experience of living with the condition, to the latest research on potential new treatment options. The meeting was remarkable for showcasing a good number of new research projects, treatment options being pursued, and patient advocates working to support congenital hyperinsulinism families.   The take away from this meeting is that so much is happening worldwide to improve the lives of children born with the condition. 

The truly international feel of the conference was quite exciting.  There were participants from Dubai, Paraguay, Italy, France, Spain, the UK, Germany, Austria, Canada, and the U.S. There were presenters from Germany, the UK, the U.S., Austria, and Canada.  To ensure that the meeting was accessible to all, there was simultaneous translation into 4 difference languages:  Italian, French, German, and Spanish.

In the session entitled HIstories: Congenital Hyperinsulinism Families, Children and Teenagers Share Their Experiences, family members presented on the struggles and triumphs of life with the disease.  While the stories all differed, suffering and worry were a component of each, as was the relief of finally receiving a diagnosis.  

Patient advocates from leading congenital hyperinsulinism patient organizations presented on their work, the need to advocate for congenital hyperinsulinism patients so they are supported medically and emotionally, have the accommodations they need at home, school, day care, and work, and have access to the best treatments, medicine, and necessary devices.  The work of these groups also involves creating awareness of the disorder for timely diagnosis to reduce cases of brain damage, and supporting research toward a cure.  Education for patients and medical personnel is also a major focus.  Representing patient organizations at the meeting were Adrienne Burton, Director of the HI Fund in the UK, Irene Promussas, Director of Lobby for Kids and Co-Director of Kongenitaler Hyperinsulinimus.e.V, and Isabel Calderon, Vice President of Congenital Hyperinsulinism International, and myself. 

 Together with Clare Gilbert, nurse specialist at Great Ormond Street Hospital (GOSH) and Oliver Blankenstein, a leading pediatric endocrinologist and congenital hyperinsulinism specialist at Charité Hospital in Berlin, Germany, the three patient advocates spoke on a number of topics very central to the needs of congenital hyperinsulinism families.  Burton and Gilbert spoke of the importance of excellent management of congenital hyperinsulinism at school and on the multiple devices that are the most useful to this patient group.  They emphasized how important it is for a child with congenital hyperinsulinism to be at a school where the child is fully supported by the adult staff; where learning accommodations are made when necessary and the child’s medical plan is followed.  Burton’s presentation on devices including insulin pumps, glucometers and continuous glucose monitors was exhaustive in its thoroughness and is of tremendous value to so many of us in the congenital hyperinsulinism community.  Promussas presented on managing the stress of parenting children with complex medical needs.  She shared her own journey and the importance of finding emotional support within the local community and connecting with a virtual online community of people who understand the condition. 

 Calderon, Blankenstein, and Gilbert presented on feeding issues, one of the most complex and vexing concerns for congenital hyperinsulinism parents. Calderon shared moving video of her now grown up child’s struggles with feeding during her early school years.  Gilbert spoke about the changes GOSH has made in its practice in an attempt to not interrupt natural feeding development.  Blankenstein provided a very comprehensive presentation pointing out just how pervasive feeding problems are for children with congenital hyperinsulinism and he provided a number of explanations for why the food aversions develop.  Most compelling was his illustration of how caregivers may inadvertently be conditioning congenital hyperinsulinism patients not to want to eat because the association of feeling bad during a hypoglycemic event is constantly linked to being fed. 

 The medical presenters hailed from many of the leading world centers where congenital hyperinsulinism is treated and studied.  Dr. Paul Thornton, pediatric endocrinologist and Director of the Congenital Hyperinsulinism Center at Cook Children’s in Fort Worth, Texas led off the medical sessions with an extremely comprehensive talk on the history of congenital hyperinsulinism treatment and research.  He provided an excellent context and foundation for all the other talks beginning with the history of insulin treatment.  Dr. Khalid Hussain, a leading pediatric endocrinologist practicing at GOSH  provided the necessary background for the other talks with his presentation on the genetics of the condition, which was done in a brilliantly clear and concise way. 

There were a series of talks on new investigational treatments for congenital hyperinsulinism patients, all of which were very interesting and provide hope for the community.  From Dr. Oliver Blankenstein of Berlin’s Charité Hospital and Dr. Pratik Shah from GOSH, we learned about long acting octreotide studies (lanreotide).  The Charité study involved 6 patients who could not be managed on diazoxide or octreotide.  After lanreotide was substituted for octreotide, hypoglycemia was reduced in all six patients.  Additionally, the lifestyle was greatly improved for patients in the study because the injection was once every 4-6 weeks instead of multiple injections daily or the need to wear an insulin pump.

Dr. Pratik Shah presented on a study of 13 patients at GOSH.  He concluded that lanreotide has been found effective.  He gave more in-depth information on one patient.  Prior to enrollment in the lanreotide study, one patient on octreotide was described as needing multiple injections of octreotide daily, bolus g-tube feedings three times a day, and g-tube feedings at night.  After lanreotide was substituted for octreotide, the patient was able to go off of all g-tube feedings and can now fast for 14 hours.  The data shows that blood sugar levels are regulated in patients at both institutions with injections only necessary once per month or less frequently in some cases at Charité.  An increase in side effects has not been seen in either study.  The syringe used to administer long acting octreotide is reported to be bigger and thicker than an insulin syringe injection and insulin pump inserter kit.

Dr. Senthil Seniappan also from GOSH presented on an oral medication called sirolimus for patients with severe disease who are not responsive to maximum doses of diazoxide and octreotide.  These patients would have been candidates for sub-total pancreatectomy surgery.  There are four patients currently enrolled in the study of sirolumus for congenital hyperinsulinism patients.  Some data on one of the patients was shared.  This patient has been weaned of octreotide and is on normal feedings at home.  At the age of 9 months this baby is able to fast more than 8 hours with a fasting glucose of 4.8 mmol (86 mg/dl).

From Louise Caine, clinical nurse at the Royal Manchester Hospital for Children, another leading center in the UK, participants learned about a study looking at the therapeutic value of fish oil for patients.  13 patients participated in the study looking at fish oil as an adjunct treatment option to be used along with diazoxide.   Less hyperglycemia and hypoglycemia was noted in this preliminary study. 

Dr. Klaus Mohnike, a leading pediatric endocrinologist who runs the congenital hyperinsulinism program at Magdeburg University Hospital in Germany and is Co-Director of the COACH Group, presented a study looking at the intellectual development and motor function of patients with congenital hyperinsulinism.  59 patients were included in the study.  The study took place at a testing center that simulated the home experience.  Unlike some other studies, all of the testing was done as part of the study as opposed to being collected from medical records.  Developmental delay was found in 26 of the 59 patients and motor delay was the most common type of delay found in the study.  Dr. Mohnike also made the important point that therapeutic treatments beginning early in life are essential to prevent further delay.     

Wil Chow, Program Manager at XOMA presented on XMetD, an investigational drug that may be a future treatment for patients with congenital hyperinsulinism and other hyperinsulinemic hypoglycemic conditions.  The drug is an insulin receptor antagonist antibody.    The principle behind this research is that hypoglycemia would not occur in hyperinsulinism patients because the insulin receptor would be inhibited.   The drug has been tested in rodents with congenital hyperinsulinism and normal fasting glucose levels were attained in these animal studies.  XOMA hopes to begin clinical trials in adults with congenital hyperinsulinism patients very soon. 

Dr. Thomas Meissner, Deputy Director of the Department of Pediatrics at University Children’s Hospital in Dusseldorf, Germany presented data on the conservative method of therapy in diffuse patients, rates of remission in congenital hyperinsulinism patients, and the role of octreotide and lanreotide in the conservative approach to therapy in patients who are not responsive to diazoxide.

Dr. Winfried Barthlen, Chief Surgeon at Griefswald Hospital in Germany and Co-director of the COACH group presented on his pancreatectomy practice for patients with congenital hyperinsulinism.  He presented data on outcomes for patients who underwent a pancreatectomy for focal, diffuse, and mosaic disease. Dr. Barthlen performs what he calls restrictive surgery in which he removes less than 50% of the pancreas.  Dr. Barthlen prefers to remove less than 50% of the pancreas because sub-total pancreatectomy most often leads to diabetes. 

In his practice, patients with focal disease who had restrictive surgery did very well as a group with 19 out of 20 patients requiring no medication after surgery.  Of the 4 patients who underwent restrictive therapy for segmental mosaic hyperinsulinism, 1 does not require medication and three require medication (diazoxide in 2 cases and lanreotide in the remaining case) to control hypoglycemia.   Of the 10 patients who underwent restrictive surgery for diffuse disease, five do not require medication, 4 require medication and one patient required a sub-total pancreatectomy.  The study does not include data on feeding regimes and enteral feeding supplements in these groups of patients.  In addition to the data, the presentation was remarkable for the inclusion of extremely high quality photographs and movies of the pancreas. 

 In addition to the talks on research, members of three centers (Oliver Blankenstein for Charité, Claire Burton for GOSH, and Klaus Mohnike for the COACH group) presented on how a PET scan is used at their centers to determine if a focal lesion is present and where it is located.  The PET has become the gold standard for localizing the lesions and this great technology has led to a complete cure for many of the babies who receive a diagnosis of focal HI.   

There were also “break-out” sessions where smaller groups of patient families who share the same type of hyperinsulinism met in circles with conference presenters.  These sessions turned out to be a very successful part of the program.  Patient families were able to share and receive support and more targeted guidance in a more intimate setting.

It was really a very full two days and the importance of the informal time, when families and presenters all gathered to dine, cannot be underestimated.  A very meaningful and hopefully lasting bond developed between all those were came to Segrate.  These connections are central to the wellbeing of patients, their families, and drive research and better care.    The slide presentations and photographs from the conference will be added to the Congenital Hyperinsulinism International (CHI) website very soon!

The annual Congenital Hyperinsulinism International Endocrine Society Meeting will take place in Berkeley, California on June 15-16, 2013.  For families living with the condition, congenital hyperinsulinism (HI), this meeting is a must.  Over the course of these two days, families have unprecedented access to leading researchers and clinicians in the field as well as an opportunity to share information and experiences with other HI families.

This year, leading world specialists in the field of HI will present on groundbreaking research and cutting edge practice in the field.  HI patients and family members will also hear from industry voices involved in the development of investigational medications that have the potential to be of great value to HI patients and their families.  HI parent experts will also present on living with the condition at home and at school.

Leading pediatric endocrinologists who will be attending and speaking include Dr. Louise Conwell of Royal Children’s Hospital in Brisbane Australia, Dr. Diva DeLeon of the Children’s Hospital of Philadelphia (CHOP), Dr. Khalid Hussain of Great Ormond Street Hospital in London, Dr. Paul Thornton of Cook Children’s in Fort Worth, Texas, and Dr. Morey Haymond of Texas Children’s Hospital in Houston, TX.  Susan Becker, RN from CHOP will also be speaking.

Parent experts include Dina Tallis, elementary school principal who has created specialized materials on managing HI at school and Davelyn Hood who is both a community health physician and parent of an HI child.

In addition to all the learning that takes place in the meeting sessions there is ample time for socializing and getting to know other HI families.  These experiences have been so valuable to family members as they stay current on all the happenings in the field and create bonds with other HI families.  HI children and their siblings who have attended these events also get a tremendous amount out of these experiences as they come to understand there are others just like them.

The meetings will take place at the Hotel Shattuck Plaza in Berkeley, California on Saturday, June 15 from 6:30-9:30 PM and Sunday, June 16, 9:00-11:00 AM.  Registration is $30 per person and payment can be made online.  Information is available on the CHI website There are still a few hotel rooms available in the block and it is still possible to register.

The meetings are made possible thanks to generous donations by Xoma, Teva, Biomarin, and Athena Diagnostics.

The meetings are offered by Congenital Hyperinsulinism International (CHI), the organization supporting congenital hyperinsulinism patients and their families since 2005.   CHI is guided in its work by its scientific advisors comprised of eleven leading congenital hyperinsulinism

For more information you can contact me at 973-744-8372 or at


-Julie Raskin

Jen was running toward us, her arms spread out like wings.  We had been waiting for this moment for hours, for Jen to run on by.  But she didn’t.  She sacrificed some seconds from her time to stop and give us all hugs.

That’s just like Jen Tedstone.  So full of love and energy that this mother of three young children would train for months to run in her first marathon, raise the most funds of any of her teammates (who all raised a ton!) for NORD,  all while working full-time as a scientist-researcher for Genzyme.

It was exciting to see Jen in the middle of her feat, her first marathon, the Boston Marathon 2013.  She was running for Christopher and my son Ben.  Christopher and Ben have congenital hyperinsulinism (HI).

We were there in Wellesley, at just about the halfway point of the race, to cheer her on, with thirteen miles still to go. Jen was part of a team of runners, the Genzyme team, each running for a patient, to bring awareness to a little known disease, to shed light where usually there is darkness.  She fundraised for all rare diseases.  The funds she and her teammates have raised will be used to improve early diagnosis of all rare diseases.  The team fundraises for NORD, the National Organization for Rare Disorders.  Early diagnosis is key to a better life for so many rare disease patients.  In the case of HI, early diagnosis is tremendously important: the difference between a life of struggle due to neurological impairment and a life free of neurological challenges.

Unlike her teammates, Jen was running for two patients, not one.  Originally, NORD had contacted me to see if my son Ben would partner with Jen.  Jen wanted to partner with a child. Ben still had enough child in him at sixteen to fit the criteria, according to Stefanie Putkowski, the amazing NORD project liaison for Genzyme.  When I learned that Jen was from Hopkinton, the town where the Marathon begins, I asked if Jen could also run for Christopher who is seven and has HI. Christopher and his family also live in Hopkinton, where the race starts.

Jen and Genzyme were thrilled to add Christopher to the roster of patient partners.  The Hopkinton connection was huge.  Hopkinton’s identity is defined by the fact that the race starts there.  The coincidence of runner and patient partner living in the same town, and not just any town, but the town of Hopkinton, where it all begins, created a very meaningful bond between Jen and Christopher and their families.   For months before the race I received updates and photos from Anne and Ed, Christopher’s mom and dad, about the upcoming marathon.  The Johnson family was there every step of the way, providing Jen with support for her training and amazing baked goods made by Anne for the whole Genzyme team.

Two days before the Marathon, on Saturday evening, Genzyme had a celebratory dinner, at their Allston facility.  It’s a very impressive building, with enormous windows that look out on the Charles River.  They make Cerezyme at this facility, a medication that has changed the lives of Gaucher’s patients, making it far more possible to live a normal life with this condition.  It was at this dinner that Mark (my husband) Ben and I first met Jen and her family.  I was already acquainted with the Johnsons, but Mark and Ben were meeting them for the first time as well.

At the dinner, there was super healthy and delicious food for the runners and the rest of us, like chicken with roasted fennel and whole carrots.  There were also speeches by Genzyme team members and NORD, capped off with a tour of the facility.   There was so much emotion in the room.  Genzyme runners, including Phil Madeira who was the founder of the project, spoke about the relationships they had formed with patient partners.  There was even a speech made by a patient partner with a rare disease who was now a member of the Genzyme running team.  Through these very heartfelt and emotional speeches it was obvious that partnering with actual patients for the Boston Marathon added a whole layer of meaning for the Genzyme employees.  It wasn’t just about raising the money for NORD; it was also about forging connections with patients, understanding their lives and empathizing with their experiences.

Sunday was Hopkinton Day.  The patient partner and runner families bonded over a yummy indoor barbeque at Ed and Anne’s.  Then we went into town where Jen, her kids, Anne, Ed and their kids introduced Mark, Ben and I to the infamous starting point of the race.  Already, townsfolk and tourists were gathering.  The excitement had begun.

Monday morning we met the Johnson family in Wellesley to watch the race with the other patient partner families and members of the Genzyme and NORD staff.  The day was gorgeous, blue sky, cool and crisp temperature.  The first runners to get to the halfway point were the wheelchair
runners who left the start first.  The athleticism of those in front was something to behold.  It was so moving to watch people who have to deal with serious disabilities competing and displaying so much physical talent.  The last of the wheelchair racers were in some ways even more powerful to watch.  These folks might not have as much strength, might have more challenges, but that didn’t stop them from giving this race their all.  When the elite runners flew by next, the men than the women, their speed was not to be believed.  After the elite runners came thousands and
thousands of people running for causes, every cause you can imagine.  There were blind runners with guides running with them, autistic runners surrounded by guides.  There were parents running while wheeling disabled children in wheelchairs.  When the Genzyme runners started to run by we went crazy with cheers, our most memorable moments were our midpoint embraces with Jen.

There was so much goodness at the Boston Marathon April 15, 2013.  When I heard the terrible news of the tragedy at the Finish, my fantasy was that all the runners would have run to the halfway point and then continued running  backwards from there, running all the way back to Happy Hopkinton, still completing their marathon while staying out of harm’s way. Unfortunately, it is only a fantasy and our hearts go out to the families of those who lost their lives and to those who were injured at the Finish.   I will forever cherish our beautiful experience being a part of the Running for Rare Diseases Genzyme NORD team.  I am sure the team will be stronger than ever next year, as is our collective resolve to support individuals and their families living with rare diseases.

-Julie Raskin

Read about how the Pennsylvania McLaughlin Family is fundraising for Congenital Hyperinsulinism International while raising awareness.

 Julie Raskin:  I am so impressed that you and Jack have taken the initiative to organize “Dress Down  Days” at school to benefit Congenital Hyperinsulinism International, the organization dedicated to improving the lives of patients with congenital hyperinsulinism.  You obviously have a family tradition of helping others.  What inspired you and Jack to do this?

 Tarah McLaughlin:  I decided to do a “Dress Down” at the school where  I teach every year on Jack’s birthday,  to honor him but also to spread awareness on HI.

 Julie Raskin:  Wow, that’s something!.  On behalf of the entire HI community, we are so grateful and inspired by your generosity.  Now how exactly does this work?  What is a “Dress Down Day” at school and who participates?

 Tarah Mclaughlin:  “Dress Down  Days“  are when faculty and staff get to wear more casual clothing and the requirement is to pay an amount (can be any) to participate. They occur mostly on Fridays but sometimes there are special exceptions. A faculty or staff member sponsors the money collected for an organization they feel a part it or passionate about, in our case it’s CHI for Jack.

 Julie Raskin:  This is just  such an altruistic way to celebrate Jack’s birthday and very creative! What does Jack think of these activities?

 Tarah McLaughlin:  Jack  is not completely aware of it at his age of 6 but since you have sent this I have been talking more about with him. He will understand more as he gets older.

 Julie Raskin;  Will you share a little more about Jack with us?

 Tarah McLaughlin:  Jack loves being outside, playing with friends and neighbors, loves dinosaurs,  trains, and food and his favorite color is blue!

 Julie Raskin:  Please feel free to share anything else:

 Tarah McLaughlin:  Living with HI has been scary and difficult at times, but we are so lucky to have the best support through Philly’s CHOP endocrine team. Jack has come a long way and we are so proud. Thank you for asking us about our life with HI!


Last Monday, March 4, Congenital Hyperinsulinism International and thirteen other patient organizations presented a program aimed at raising awareness in the state of New Jersey of the plight of people living with rare diseases.  NORD and BioNJ, the Biotech trade organization for New Jersey, supported our efforts to deliver this presentation which took place at the New Jersey State House in Trenton, NJ.    

Prior to the event we networked and shared  information and materials in the annex tunnel.  Those of us representing the different organizations found synergies and bonded about ways we could work together in the future to further our causes.  The ARC was there advocating for folks with developmental disabilities.  I got to meet some of their amazing self-advocates who were really taken with our “Be my sugar” T-shirts.  They were amazed by the phrase on the t-shirts and the idea that sugar (dextrose) given to a newborn intravenously could potentially protect hyperinsulinism babies from developmental disabilities.   We realized we should be working together on the prevention of developmental disabilities and the rights and needs of people living with developmental disabilities.

Our formal program took place in a large committee room, lending an air of heft to the event, which added to a sense of power and possibility for our newly formed group of New Jersey rare disease advocates.  The NORD creed, “Together we are Strong” was the message we were able to convey because we really felt it.   

At 11:30 the program began.  The unifying theme of our eight speakers was “Every Patient Counts.”  The organizer extraordinaire, Jane Castello, of Softbones and I moderated the event together.   Jane and I had never even heard of each other two months prior to the event.  NORD brought us together to plan this event and we sure got to know each other fast.  It turned out we are born partners!

Our first speaker was Mary Cobb, Senior Vice President with NORD, the leading umbrella organization providing advocacy, education, research and patient/family services for the rare disease community for 30 years.  NORD is responsible for Rare Disease Day taking off in the US.  Just as she had done on Rare Disease Day at “A Very Special Cocktail Party,” Mary set the stage for the whole event, explaining the larger context of rare disease advocacy.  She shared the NORD message that through working together we can make our voices heard and improve the lives of rare disease patients. 

Our second speaker was Debbie Hart.  The only word for Debbie is dynamo.  Jane and I first got to see Debbie in action presiding over a meeting that over 700 people attended; the Annual BioNJ Meeting.  Debbie has been the President and CEO of BioNJ since 1994.  During her tenure, the Biotech sector in New Jersey has surged, and with this surge the prospect of drug development, better treatments and even cures, have increased.

Debbie then introduced Francois Nader, who has just been installed as the Chairman of the Board at BioNJ.  Dr. Nader who is also President and CEO of NPS Pharmaceuticals, discussed the launching of the medication Gattex® (Teduglutide [rDNA origin]) for Injection.  This drug is remarkable because it is the first treatment for short bowel syndrome in 40 years.  Dr. Nader spoke of his commitment to patients and his company’s pledge to assure that no patient would be denied Gattex because of inability to pay for the medication.  We hope that other biotech and pharma CEOs take note and make a similar commitment to patients.

Shari Ungerleider of Wayne spoke movingly of the life and death of a son who died of Tay-Sachs at age 4 1/2.  Tay-Sachs is an autosomal recessive genetic disorder caused by the absence of a vital enzyme known as Hex-A.  As a result of her personal experience Shari has devoted her professional life to pre-conception carrier screening.  Shari is the Executive Vice-President of the National Tay-Sachs and Allied Diseases Association and Project Coordinator for the Jewish Genetic Disease Consortium (JGDC).  Congenital hyperinsulinism is one of the conditions that is now included in the carrier screening panel of the Jewish Genetic Disease Consortium, which is excellent because it provides prospective parents with an opportunity to have a birthing plan in place that greatly reduces the risk of prolonged hypoglycemia and brain damage.   

Diana Autin, Co-Chair of SPANNJ (Statewide Parent Advocacy Network of New Jersey) spoke about how schools, healthcare systems, and other systems of care need to partner with parents of children with rare diseases to ensure that these systems of care effectively address their children’s needs and prepare them to transition to adult life.  Diana collaborates with just about everyone in the state to make sure these systems of care are delivering the services that children with rare disorders need.  Following the event at the State House Diana shared with us resources for parents concerned about special healthcare issues in every state.  Diana has an amazing ability to foster collaboration between different groups and stakeholders for the good of children with special needs. 

Susan Anderson, of Bridgewater, NJ shared the story of her son Erik who passed away when still a teenager.  He was afflicted with several rare blood disorders (ITP, autoimmune neutropenia and hemolytic anemia) and even rarer neurological and pulmonary complications related to an underlying immune disorder.  Erik died before his condition could be diagnosed and Susan emphasized the need for diagnosis and treatments for ultra-rare diseases. Susan’s story was remarkable because of the extent to which her family, including Erik, was concerned about the progress of understanding the defect he suffered from for the benefit of other patients. 

Ellen Welch, PhD, Director/Genetic Disorders, PTC Therapeutics discussed her work discovering small molecule drugs for the treatment of rare disorders. Ellen explained that a single type of mutation (nonsense mutation) can be the underlying cause of a subset of the individual cases of most inherited diseases.   She talked about how a drug that selectively promotes their suppression could have broad clinical potential for numerous genetic disorders currently lacking significant therapeutic options.  Her talk illuminated how researchers are on the verge of great discoveries that have the potential to cure many people living with rare disorders. 

The last speaker of the day was Brooke Foster, an eleven year old girl from Englishtown, NJ.  Brooke lives with Mastocytosis, a rare disorder characterized by the overproduction of mast cells, and mast cell activation syndrome (MCAS), which can cause a variety of unpredictable symptoms in both children and adults, including skin rashes, flushing, abdominal pain, bloating, nausea, vomiting, headache, bone pain and skeletal lesions, and anaphylaxis.  Brooke’s speech was exceptional for its self-advocacy.  Brooke shared a PowerPoint presentation that articulately explained her rare disease. 

Jane Castello ended the event by reading the New Jersey Joint Legislative Resolution acknowledging the last day of February as Rare Disease Day.  Jane also listed all the organizations that were part of the consortium that made this event a reality.  The organizations are:  The CARES Foundation, NOMID Alliance, The Sturge Weber Foundation, APS Type 1, The Mastocytosis Society, Children’s Cardiomyopathy Foundation, Amicus Therapeutics, IAFFPE, – “Let them be Little X2″, MDS Foundation, Leigha’s HOPE, Softbones and Congenital Hyperinsulinism International.

The New Jersey group of rare disease organizations hopes to offer a yearly event in honor of Rare Disease Day.  We are also planning to work together throughout the year to improve the lives of patients living with rare diseases. 

-Julie Raskin


On February 28, 2013, Congenital Hyperinsulinism International held its second “rare” event in honor of the 6th Rare Disease Day in Montclair, New Jersey at the historic and beautiful Van Vleck House.  The purpose of “A Very Special Cocktail Party” was threefold: to raise awareness of the needs of all rare disease patients, to share information about the rare condition congenital hyperinsulinism, and to raise funds for Congenital Hyperinsulinism International (CHI), so that CHI can continue its mission to support patients and their families living with the rare disorder.   

The evening was an unqualified success.  120 people attended and donated to the event and an additional 47 individuals and couples made donations but were unable to attend.  Guests included CHI board members Randy and Jeff Hart, nurse specialist Susan Becker, a key member of the Children’s Hospital of Philadelphia Congenital Hyperinsulinism Center, congenital hyperinsulinism patients and their families, local friends, and friends and family who had traveled from quite a distance to attend.  There were also 4 corporate sponsors, Athena Diagnostics, Biodel, Boiling Springs Bank, and Xoma, and two family sponsors, Amy Graydon and Dan Kaplan and Sue and Sean Cullinan.  All sponsors made very generous donations to make the event possible. 

At the event wines from rare regions made of rare grapes from Amanti Vino were paired with appetizers of rare quality prepared by Michelle, a chef with CulinAriane.  There were also homemade chocolates, macarons and small cakes from Petit Paris in Montclair.  Maggie Hinchliffe, a young woman of rare talent, played the piano for the event, for the second year in a row. 

“What a beautiful and inspiring event,” said Jill Simmons who attended the event. “We were surrounded by amazing, brilliant people, all committed to the lives of children.  I feel honored to be a small part of it.”

Mary Cobb, Senior Vice President for NORD, the National Organization of Rare Disorders, put the whole event in context.  She explained the history and importance of Rare Disease Day, and how advocacy has made a real difference in the lives of patients.  Rare Disease Day has become a very international movement with events in 60 countries.  The slogan for this year’s Rare Disease Day celebration was “Rare Disorders Without Borders.” 

Leading pediatric endocrinologists Dr. Diva DeLeon and Dr. Charles Stanley from the Children’s Hospital of Philadelphia, and Dr. Paul Thornton from Cook Children’s Hospital in Fort Worth, TX, spoke about congenital hyperinsulinism: how the disorder affects patients; the progress that has been made in treating the disorder; the danger to the lives and brains of patients when diagnosis and treatment are delayed; and the difficulties many patients have accessing excellent medical care and medication.  All three of these physician-scientists have a gift for explaining complicated medical information in understandable terms.  All three traveled from a distance to be with us and many guests commented on the tremendous qualities of these three doctors:  brilliance and a commitment to patients and their families.   All three are essential members of the Scientific Advisory Board of CHI.  Rianna Sommers, a junior at Muhlenberg College, shared with guests what it is like to be a patient with congenital hyperinsulinism.  While her words described a disease that places a great burden on patients and families,  Rianna’s bubbly, positive personality and resilience were quite apparent.  About these speeches, Liza Dawson, a guest said “they were the perfect blend of meaning and camaraderie and insight.”

I spoke about the need for community support from family, friends, and those who have experienced the condition first hand.  I shared how amazed we are at CHI by the outpouring of support from people who are unaffected by the disease,  and how important it is that those unaffected “care about rare.”

The importance community plays in our lives was evidenced by the committee members who dedicated hours of their time to planning and working this event.  Kristen Carlberg, Amy Graydon, Katherine Hinchliffe, Lori Loebelsohn, Susan Morton, Kate Potters, Lynn Neils and Jennifer Schmitt were essential to every aspect of this event.  In total, seventeen committee members and fifteen of my son Ben’s classmates from Glen Ridge High School made this event possible.  These students are there for Ben each and every day at school, not just one night of the year, on Rare Disease Day.  They are extremely caring and are a big part of the reason why Ben focuses on his full life rather than on how complicated it can be to manage the condition and the disabilities it has created.  In summary, Kelly Forsyth, a guest, described the evening this way:  “What a great event: great people, beautiful place, amazing food and so full of love.”

-Julie Raskin

Julie Raskin:  CHI is thrilled to learn that you have been given an endowed chair at Cook Children’s. This is very exciting and a great step forward for the whole field. Congratulations! What will this mean for your work and the future of the Cook Children’s Hyperinsulinism Center?

Paul Thornton:  Yes, this is a very exciting time for me and our institution. I am excited that Cook Children’s Medical Center is committed to providing the latest and best quality of care for infants and children with hyperinsulinism (HI). As you are aware, to build a multi-disciplinary team to manage these babies is a huge financial and time commitment. This commitment started in 2010 and has led to a formal application to the Federal Drug Agency (FDA) to perform 18FDOPA PET scanning. Now, with the endowed chair, Cook Children’s is making an even greater commitment to the program to support research and teaching. Cook Children’s is a not-for-profit, integrated health care system, and is not part of an academic center. So, to make this kind of commitment is incredible, because as you know, there is only one other HI team like this in the United States.

Not only will we be able to provide the latest in technological care to babies, but we intend to be the preferred center for HI care in the southern and western United States, providing families with an alternative to traveling to Philadelphia. When you consider that Cook Children’s is also the home of a unique 106-bed Neonatal intensive Care Unit (NICU), where every room is a single room with space for the parents to stay with their child 24 hours a day, our HI center will provide leading-edge therapy and family-centered care.

Julie Raskin:  We understand that you are developing the capacity to perform PETscans at Cook Children’s in order to better diagnose the presence of focal disease in HI patients. Can you please share with our readers any news on this development?

Paul Thornton:  As you are aware, 18FDOPA, the agent used to differentiate focal from diffuse disease, is not even an approved drug by the Federal Drug Agency (FDA). Therefore, in order to use it, we have to go through the same process that a company like Pfizer does to develop a new drug, which means we need to file an investigational new drug application (IND). Basically this means that we will be using 18FDOPA under research protocols.   As you can imagine, this is both time-consuming and very costly. I am working with our partners to develop a better method to make 18FDOPA offsite and shipped to us. Our preliminary work is almost complete and we expect to file with the FDA in four to six weeks. If all goes well, we will be ready to scan our patients in the summer of 2013. This has been a huge undertaking by Cook Children’s, the research team, and our partners, particularly as the FDA changed the rules when we were about to submit one year ago.

Julie Raskin:  Tell us a little more about the Hyperinsulinism Center at Cook Children’s. Is your center both a research and treatment center?

Paul Thornton:  Since we started in 2010, we have now seen more than 30 children referred from Texas and our neighboring states of Oklahoma, Louisiana, New Mexico, Alabama and Florida. In the past, inpatients with focal disease were transferred to Philadelphia for PET scanning. However, with our anticipated availability of 18FDOPA PET by summer 2013, we will be a full-service HI center.

In addition to newborns, we are a referral center for the very rare (1 per million) older children with insulinomas (insulin secreting tumors of the pancreas). We have one of the most up-to-date interventional radiology suites where tumors can be localized by performing pancreatic arterial calcium stimulation tests (very similar to differentiating focal from diffuse disease in infants years ago). So far, we are 100 percent accurate in localizing the tumors and removing them and we have cured the patients and eliminated the risk of diabetes.

 From a nursing perspective, we have patient rooms in the NICU dedicated to HI babies and nurses specifically trained to care for these infants. This means that when families come here, they will work with dedicated and knowledgeable nurses familiar with caring for HI babies. We also have a dedicated feeding team to assist in the development of age-appropriate feeding and prevention of G-tube dependence, even in babies with diffuse disease.

With regard to research, my endowed chair funding allows me the time and resources to undertake research. We currently have several research protocols underway with approval by our IRB with our 18FDOPA protocol completing review. I recently won a two year grant to cover the cost of a research nurse, who works very closely with my HI nurse (soon to be an HI Nurse Practitioner). We are working on a study to show how the recent American Academy of Pediatrics guidelines for the management of hypoglycemia in infants is currently under-diagnosing babies with transient hyperinsulinism. Our work has been accepted for presentation at the upcoming Pediatric Endocrinology Society and the SPR meetings.

In addition, I have received private funding to assist in the development of the 18FDOPA project and, with the assistance of a research grant writer, am looking at additional funding opportunities. We also have a manuscript on hypoglycemia presenting in the emergency room (ER) and how new diagnostic algorithms will lower the cost and improve the diagnosis rate of infants and children with hypoglycemia. This pathway detects late-presenting infants with HI who may come to the ER with hypoglycemia seizures. This data was presented to our peers last year and is ready for journal submission.

Julie Raskin:  What should families expect when they come to Cook from out of town? 

Paul Thornton:  First of all, we have a nationally recognized transport team experienced in transferring HI patients.  We are the only NICU that provides single rooms for patients allowing families to have a more pleasant, more private experience.  There is also a nearby Ronald McDonald House where families can stay, as well as extended stay hotels right in the neighborhood.  We have a concierge department that makes travel and hotel arrangements for families.  We are really a very family-oriented institution.  We even have daily patient-centered rounding and because we are not a research institution, the focus is really on making the patient stay as comfortable as possible in addition to providing the best treatment.  As I mentioned above, the fact that we are a multi-disciplinary center, where all facets of care are provided by HI specialists from endocrinology, to surgery, from feeding specialists to occupational therapy, etc., leads to better outcomes for our HI patients.

Julie Raskin:  Why did you decide to specialize in congenital hyperinsulinism? What propels you in your work?

Paul Thornton:  I was very blessed to work at The Children’s Hospital of Philadelphia in 1989 with Dr. Lester Baker and Dr. Charles Stanley. At that time, they were recognized as two of the top three physicians in the world caring for children with HI. In 1993, I met Dr. Albert Aynsley-Green, the third leader in HI. All three encouraged my interest in this disease and encouraged me to take the lead and advance the care of these HI babies for the next generation.

During my fellowship in pediatric endocrinology, I focused my clinical attention on hyperinsulinism and worked on different clinical problems. Over the years, I realized that with HI being a rare disease, families learning more about HI and how dangerous it is, drove me to work harder to help these families. As I developed relationships with families and followed their children for years, I realized they needed a multi-disciplinary team to better assist them. Thus, in 1999, with Dr. Stanley and Dr. Adzick, we formally developed the first HI center in the United States, where I served as the clinical director. We realized that this would help us provide better care and more importantly, learn more about HI. This was the beginning of my mission to educate fellow endocrinologists and neonatologists about this dangerous condition.

Now, as I see those first children grown up and in college, I am proud to have been part of the progress in the care and research of HI patients. I am very excited to have also set up the second HI center in the United States and to be working very closely with the five other major centers in the world in the United Kingdom, Paris, Berlin and most recently Australia. There is a lot of work to be done in the United States, and I am excited to continue this work here at Cook Children’s.

Veronica holding Chance in the NICU

As parents of children with congenital hyperinsulinism (HI), we often suffer heartbreak and loss. There is so much to mourn: parents of babies diagnosed at birth never get to experience the normal joys and normal anxieties of caring for a newborn. Those whose babies are diagnosed after several months never return to the innocent phase of parenting a perfectly healthy baby. As the years go by, many of us face the loss of the dream of a typical life for our children. Some of our children are affected by physical and developmental challenges that make life so much more complicated and difficult. Yet, over time, we come to accept these challenges and we even sometimes endure multiple diagnoses, learning to lead full lives and to parent children that often have special needs. As a community, we must also never forget that among us are families who have suffered the ultimate heartbreak, the death of a child, the cause, HI.

Congenital Hyperinsulinism International is honored to be in contact with one such family, the very brave Scales family. On October 11, 2012 at 10:32 am they suffered the ultimate loss and had to say goodbye to their beloved son, Chance, born August 8, 2012. We share this story of Michael, Veronica and Robert Scales with you to honor Chance’s life and to remind us of all the work that needs to be done to raise awareness of the disorder, to help newborn nurseries gain knowledge of the signs and symptoms of hypoglycemia and the best treatment plans for those who have hypoglycemia, to increase the availability and knowledge of prenatal genetic testing for parents, to raise funds for research for better treatments for the disorder, to encourage pediatric endocrinologists to specialize in the study of HI, and to emphasize to neonatal intensive care units (NICU) and pediatric intensive care units the important role families play in the health and wellbeing of the patients. Chance’s family is particularly interested in increasing knowledge of and improving treatment for HI in hospitals throughout the world. Chance’s parents have written and shared their story on their Facebook page which we link here:!/michael.a.scales?fref=ts. Michael Scales, Chance’s Dad, has written beautifully about their experiences, describing the family’s journey in a simple yet detailed way. CHI will be sharing their story written by Michael in the HI Stories section of the CHI website which will be going up in a few weeks.

Here is an interview we conducted with Michael:
Julie Raskin: You knew there were health issues before Chance was born, but not the HI diagnosis, right?                                                              Michael Scales: Veronica and I were both considered “High Risk pregnancy parents.” Early ultrasounds indicated some heart issues, but they could not pinpoint the reasons for the problems. All blood tests on Veronica came back normal.

Julie Raskin: Prior to diagnosis were Chance’s blood sugar levels checked on a regular basis and were blood sugar levels maintained in the normal range?
Michael Scales: Chance’s blood sugar at birth was 0. Chance was unique as he is only the 2nd human on the earth known to have contracted HI intra-uterine due to the ABCC8 mutation. His APGAR at birth was 1.

Julie Raskin: Once diagnosed, was there a high level of knowledge about the disorder at the hospital where Chance was born?
Michael Scales: No, the endocrinologist in Albuquerque had a basic knowledge – but did know enough to consult with Dr. Thornton at Fort Worth. The local doctors had a hard time wrapping their hands around this condition. Chance also had a heart condition (thickening walls) which may or may not have been attributed to the increase in insulin, and this confused the situation altogether. Texas Children’s Hospital (TCH) is doing additional genetic testing to see if they can find any other markers may have caused the heart problems. These tests should be back in March 2013.

Julie Raskin: Did you have genetic testing while Chance was alive? If so, what did it reveal?
Michael Scales: Testing was requested by Dr. Thornton and the Albuquerque Endocrinologist. Veronica carries 2 copies of the mutated ABCC8 gene. I have no copies in my DNA.

Julie Raskin: How long did it take to transfer to TCH?
Michael Scales: Chance was born on Aug 8, 2012 by C-Section. He had a massive heart attack on October 6th, which caused the local Doctor to suggest the transfer to TCH.

Julie Raskin: Prior to the results of the genetic testing showing HI and the suggestion from Dr. Thornton to manage the blood sugars with glucagon and diazoxide, what was the hospital doing to manage blood sugars before August 31st? Were blood sugar levels checked regularly prior to August 31st?
Michael Scales: Lots of IV’s with D20, and some bolus of D50. Blood sugars were tested q3.

Julie Raskin: Are you surprised by the lack of knowledge in the general medical community about HI?
Michael Scales: Even the endocrinologist at TCH was lacking information and had to consult with CHOP and Dr. Thornton. This may have wasted valuable time in treating the condition. I doubt that the outcome for Chance would be different from what occurred, but it could help another child.

Julie Raskin: What do you think should be done to improve the likelihood of timely diagnosis for those born with congenital hyperinsulinism?
Michael Scales: Lots of education and lots of advertisement on the availability of HI support groups.

Julie Raskin: What kind of support do you think NICUs need?
Michael Scales: They have nothing now; anything that could be provided would be an improvement.

Julie Raskin: Are there some memories of Chance you would like to share:
Michael Scales: When we entered the NICU and started talking to any of the staff, Chance would pick up his head and turn toward us. He knew his parents were in the room. When he did not have a tube in his mouth, he loved to smile. And it was contagious. One of the staff brought him a Cowboy outfit (because the rodeo was in town). He looked just awesome in it. His favorite sleeping position was with his hind end on Mom or Dads’ leg and his head lying in our hands.


The FDA has granted orphan drug status to Biodel’s stable glucagon for congenital hyperinsulinism patients. This represents one more important milestone in the development of this drug for HI patients. This FDA designation creates a range of financial incentives for the further development of the drug. Earlier this year, Biodel had received orphan drug designation or its equivalent from the European Commission.

The form of glucagon that Biodel is developing is a breakthrough for the HI population because it is a more stable form of the drug. The medication that is currently on the market is unstable and therefore problematic. The new, more stable form of the drug could be useful to HI patients in three distinct ways.

Glucagon is used by HI patients as an emergency medication when severe hypoglycemia occurs. Currently, patients or their parents must pre-mix and draw up the medication into a syringe. Obviously, this is far from ideal when time is of the essence and the glucagon must be delivered as fast as possible to prevent prolonged severe hypoglycemia which can cause brain damage. The new form of glucagon will allow patients or their parents to inject a ready-to-use product.

The new glucagon may also be more suitable for long-term therapy for HI patients when other alternative treatments are not effective. The medication could possibly be delivered on this basis subcutaneously using an insulin pump or something like it.

In another important development, this stable glucagon could also be a key component for use in a bi-hormonal pump for the treatment of diabetes in HI patients who have become diabetic after sub-total pancreatectomies. While the bi-hormonal pumps would be a great development for all diabetes patients, they represent something particularly important for HI diabetes patients. Some HI patients with diabetes still produce some insulin at unexpected times in an unregulated manner. These patients must deal with and worry about lows as well as highs perhaps to an even greater extent than the type 1 diabetes population. A back-up system in which glucagon is available and can be delivered when blood sugar levels dip too low is a fantastic development. Preclinical trials studying the use of the new glucagon in bi-hormonal pumps are currently underway.

You can read more about Biodel’s news here:

Congenital Hyperinsulinism International (CHI) is happy to announce that Dr. Diva de Leon of the Children’s Hospital of Philadelphia has just been awarded a $50,000 grant to study “The Effect of GLP-1 Receptor Antagonism on Protein-Induced Hypoglycemia in KATP HI.”

The study will examine the effect of exendin-(9-39) — a potent glucagon-like peptide (GLP-1) receptor antagonist — on protein-induced hypoglycemia in children with KATP HI. (KATP channels play a role in regulation of insulin secretion from the islets of Langerhans.)
The study is funded by the Mario Batali Foundation and administered by NORD, the National Organization for Rare Disorders.

Congenital hyperinsulinism was selected as the research topic that would be funded by the Mario Batali Foundation on the basis of a request letter sent by CHI. NORD-administered research grants are awarded to scientists following a competitive proposal process. Awards are made in consultation with NORD’s Medical Advisory Committee.  Dr. De Leon is a member of CHI’s Scientific Advisory Group.

In September CHI interviewed Dr. De Leon on the topic of Exendin 9-39 and a research paper that was published in the Diabetes Journal earlier in the year. The Interview is recopied here:

Parents who have children with congenital hyperinsulinism (HI) and adults living with the condition continue to wish there were more HI treatment options. While treatment does exist in most cases, it is far from ideal. With the goal of introducing a more effective treatment for patients who are not responsive to diazoxide, researchers at the Children’s Hospital of Philadelphia (CHOP) have been studying exendin (9-39). In a pilot study that will be published in the journal Diabetes in October (currently available online), CHOP researchers share the exciting news that exendin (9-39) in its investigational form does control blood sugar levels in patients with HI.
In order to provide the HI community with more information about the study and the drug’s future trajectory as a potential treatment option, Congenital Hyperinsulinism International (CHI) interviewed Dr. Diva De Leon, one of the lead CHOP researchers. In the interview Dr. De Leon provides more detail about the study and what we can expect in the future.

Julie Raskin: “When will the next phase of research begin?”

Dr Diva De Leon: “The proof-of-concept studies that we have done with exendin-(9-39) were with an intravenous preparation, not an optimal treatment route for outpatient management. We are developing a subcutaneous formulation of this investigational drug for the next set of studies. Currently, studies are ongoing to support a future clinical trial with a subcutaneous preparation of exendin-(9-39), including: pre-clinical studies to evaluate the toxicology profile of this investigational drug as well as pharmacologic studies to evaluate the drug half-life, etc.

We estimate that we will be ready to start the clinical trial with subcutaneous exendin-(9-39) in 2014, or sooner, if we succeed in getting a commercial partner for this project.”

Julie Raskin: “If HI families are interested in participating in the clinical trial, with whom should they be in touch or should they just wait for CHOP to reach out to them?”

Dr. Diva De Leon: “They can contact us by email or by phone at: and 215-590-7682. In addition, information about our research studies can be found at: and When we are ready to start enrollment we will reach out to our patients for participation.”

Julie Raskin: “What will the criteria be for inclusion in the study?”

Dr. Diva De Leon: “For the next trial we will recruit children with persistent hypoglycemia due to hyperinsulinism, with or without history of prior pancreatectomy.”

Julie Raskin: “If exendin (9-39) does prove to be effective and safe in the treatment of HI, when can patients expect it to be available?”

Dr. Diva De Leon: “My best estimate is that if exendin-(9-39) does prove to have a good profile in terms of safety and efficacy, the product could be on the market within the next 5 years. I think the critical factor will be to find a commercial entity to partner with. In this sense, the work CHI is doing with NORD in raising awareness about CHI as a rare disease is very important.”

Julie Raskin: “Is it possible that exendin will be beneficial to patients who are currently treated with diazoxide? Could it be an alternative medication for those HI patients as well?”

Dr. Diva De Leon: “I think it is possible. Wouldn’t it be great to have multiple options for treatment? It is very frustrating when we are asked by families what are the treatment options for their children, only to have such a limited number of them. I am hoping that we could change that.”

Julie Raskin: “How in layman’s terms does exendin deactivate mutations in the ATP-sensitive Potassium Channel?”

Dr. Diva De Leon: “Exendin-(9-39) acts in the insulin producing cell by inhibiting a receptor that stimulates insulin secretion downstream of the potassium channel. We believe that this receptor, the glucagon-like peptide-1 receptor or GLP-1 receptor, plays an important role in regulating insulin secretion when ATP-sensitive potassium channels are dysfunctional or not existing (because of inactivating mutations). Thus, the hypothesis is that by inhibiting the GLP-1 receptor we can turn off insulin secretion even in these cases with defective ATP-sensitive potassium channels.”

Julie Raskin: “What is the derivation of exendin (9-39)?”

Dr. Diva De Leon: “Exendin-(9-39) is a small protein (peptide) synthesized in the laboratory (by a company that specializes in making peptides). It was first derived by truncating another peptide, exendin-4, a naturally occurring product in the saliva of the gila monster. By eliminating part of the protein (exendin-4) it was found that the effect on insulin was the contrary: exendin-4 stimulates insulin secretion and exendin-(9-39) inhibits insulin secretion. A synthetic form of exendin-4 is now in the market for the treatment of type 2 diabetes (Byetta).”

Julie Raskin: “We are delighted that you are committed to a career in HI research as the future of HI patients depends on people like yourself and there are so few of you! How did you get interested in the field?”

Dr. Diva De Leon: “I came to CHOP in 1999 for my fellowship in pediatric endocrinology with the goal of becoming a diabetes researcher, but during my first year of fellowship I was inspired by the children I saw with hyperinsulinism and their families to shift the focus of my research to hyperinsulinism.

It is amazing to realize how much progress has been made on understanding the disease process, on finding the molecular causes of hyperinsulinism, on realizing that some of these children have focal lesions that can be cured by surgery, and on developing the tools to identify these children. But I think there is still a lot that needs to be done to improve the treatment options for these children, particularly for those who don’t respond to diazoxide and who don’t have focal lesions. The identification of new targets for treatment is an important part of this, and this is what the major focus of my research is.”

Julie Raskin: “What can be done to encourage more physicians to take up a specialization in HI research and clinical work?”

Dr. Diva De Leon: “By creating more awareness about congenital hyperinsulinism and increasing funding opportunities we could encourage new generations of pediatricians, pediatric endocrinologists and scientists to focus their careers on this field.”

This is the full citation for the research paper: “The GLP-1 Receptor Antagonist Exendin-(9-39) Elevates Blood Fasting Glucose Levels in Congenital Hyperinsulinism due to Inactivating Mutations in the ATP-sensitive Potassium Channel,” Diabetes, published online July 31, 2012, to appear in print, October 2012. doi: 10.2337/db12-0166