For those who were newly diagnosed this year and their families, Congenital Hyperinsulinism (HI) began with a major crisis. There was the terrible moment when something was found to be wrong, followed by a diagnostic process, the search for physicians and nurses who understood the condition, the hunt for an effective medication, and sometimes surgery, or repeated surgeries. There were often months spent in a hospital in a city that was not home. The high cost of care was often staggering and an enormous hurdle to be overcome. Just getting the necessary medication and supplies was sometimes a struggle. For some there was an acceptance process around having a child who requires so much care. Others had to come to grips with an unexpected developmental trajectory. There may have been the miracle of a cure for focal HI after surgery, and sometimes anxiety and stress, even when the outcome was so positive. For many there was and is a feeling of constant fatigue, and then recognition that we can do this, and the feeling of relief after finding a community of others who understand the condition.
For those who are beyond the first year, there has been in 2013 a settling into routine for some, sometimes health emergencies, but often lots of progress, and excitement over milestones met, even if they come a little later than anticipated. Often there are lingering issues with feeding, difficulties in the school setting. For some there are huge triumphs, starting school, graduating, a first job, a wedding! It is thrilling to have a worldwide community where we share each other’s joy and progress. Many have become mighty advocates.
In 2013, HI families from every corner of the globe supported each other through online communities, making dear friends and helping each other through the most difficult patches. Families connected from the UK, Tunisia, Australia, France, Italy, Dubai, Denmark, Zimbabwe, Colombia, Paraguay, Guatemala, Argentina, China, Singapore, Ireland, Germany, Austria, Italy, Ecuador, Peru, Sweden, Israel, Puerto Rico, Malaysia, Russia, the United States, and other countries. Patient families, Congenital Hyperinsulinism International (CHI), and the leading HI centers all worked together to help families get what they needed: blood sugar checking supplies, transfers to the leading centers, medications and services.
It was a year of new discoveries, investigations into potential new treatments and new devices and technologies. GOSH, CHOP, Cook, Hadassah, Necker, Manchester, Charité, Magdeburg, Greifswald, Düsseldorf, XOMA, Xeris, Biodel, Medtronic, Telcare, Tandem and others have all been involved in groundbreaking endeavors to potentially improve management of the condition. There was the news that PET scans for HI focal diagnosis are now available in Brisbane, Australia and will soon be available in Dallas/Fort Worth, Texas.
Congenital Hyperinsulinism International (CHI) held two major meetings, one in Berkeley, California and one in Milan, Italy. Specialists, advocates, and HI families gathered. There were fantastic presentations about ongoing research, lives changed for the positive by new approaches to care and thriving support systems and networks described. The HI community learned about exendin 9-39, XMetD, sirolimus, fish oil, lanreotide, stable glucagon, and the history and genetics of the condition from the leading world class researchers and clinicians. We learned that patient support and HI advocacy are alive and well in the UK, Canada, Austria, Germany, France, Argentina, Paraguay, Ecuador, Guatemala, the United States, and other countries. We watched a community of families find each other in Italy and witnessed the beginning of their work supporting each other.
CHI took part in larger advocacy projects with international groups like EURORDIS and worked with NORD and local advocacy groups in New Jersey to improve the lives of all patients with rare disorders. All over the world we wore our “Be My Sugar” T-shirts in three languages on Rare Disease Day. We threw a huge party on the evening of Rare Disease Day to raise awareness and funds. We raised awareness of all rare disorders as patient partners, as part of Genzyme “Running for Rare Diseases” in Boston, Massachusetts at the Boston Marathon and represented those living with rare diseases at state houses on Rare Disease Day. CHI represented HI at conferences, meetings and forums. Stories about HI were blogged, tweeted, and filmed. All over the world people donated their time and money to CHI, to help ensure that CHI remains a lifeline to people living with the condition. In 2013, there were tremendously difficult times for many with the condition and their families. 2013 was also a year of action and results, progress, hope and friendship.
There was also tragedy in 2013. We lost some beloved members who were loved and supported by their families until the end, and by the larger HI community and the people at the medical institutions where they were treated. We offer those families our deepest condolences and dedicate our future work to raising awareness of the condition and supporting research so that there are fewer tragedies in the future.
