Meet Ben and his mom Julie

A story told by Julie about Ben and his hurdles living with Congenital hyperinsulinism and how Congenital hyperinsulinism International (CHI) began

Ben with his sister Hannah

 

Ben with his Mom and Dad

Ben was born on June 2, 1996. My pregnancy with Ben was perfect and perfectly unremarkable! I felt very healthy and all signs pointed to giving birth to a perfectly normal child. I had a wonderful obstetrician who practiced in New York City and Ben was born at New York Hospital, one of the finest hospitals in New York.
Ben was 7 pounds 6 ounces at birth. We practiced natural childbirth and Ben seemed very healthy at birth with double nines on his Apgars.
Ben was adorable and very calm when he was born. When we were moved to our hospital room Ben was very hungry. He nursed continually and voraciously. This was very different from my memories of the first hours with my daughter. She nursed for a while, slept, nursed, etc. Ben just wanted to nurse. After a few hours the calm turned to irritability. Nothing soothed him. During the second night at the hospital, Ben continued to cry incessantly. The irritability soon ended and Ben became very sleepy. On the morning of June 4, we were set to be discharged. Ben was still very lethargic.
When we arrived home Hannah, my daughter who was two at the time and Hannah’s grandmother were waiting for us to celebrate our homecoming. The afternoon was bittersweet. We were so glad to be home with our new baby and Hannah’s excitement about her baby brother finally coming home was infectious but we couldn’t help but worry about Benjamin’s lethargic state. For answers and reassurance I consulted my library of books on newborn care. Both Doctor Spock and Penelope Leach wrote about lethargic babies not so interested in nursing. Some babies don’t like colostrum and are waiting for a supply of real milk, they wrote. This comforted me for a few hours.
The first night was haunting. Ben never woke up to nurse. In the morning we headed right to our local pediatrician’s office. Dr. Miller took one look at Ben and told us to go straight to the neonatal intensive care unit of St. Barnabas Hospital. Dr. Soni would be waiting for us. An hour after admitting Ben to the NICU, we were told Baby Ben’s blood sugar level did not register; it was so low. He also had five seizures upon arrival. Ben was stabilized and hooked up to everything he needed intravenously.
The next day we were told by our pediatrician that a urinary tract infection was the culprit and Ben would be back to normal in a couple days. But normalcy did not set in. A couple of days went by and Dr. Soni was still puzzled that Ben seemed to need such large quantities of dextrose to keep blood sugar levels from going low. She said “this smells of something metabolic.” She tested Ben for every test known to man that could possibly have been the cause of the low blood sugar level, seizures, and a tremendous need for dextrose. Finally on the 10th day of Ben’s stay, with all tests negative, Dr. Soni called in an endocrinologist, Dr. Garibaldi. Dr. Garibaldi looked at Ben’s chart and asked Mark and me where our parents were from, where our parents’ parents were from, etc. When we answered that both my ancestry and Mark’s was from Eastern Europe, Dr. Garibaldi told us definitively Ben had congenital hyperinsulinism. He would run a couple of tests to confirm but he was already sure of the diagnosis.
He started Ben on a medication, diazoxide, and when that did not regulate blood sugar levels, he tried octreotide, which also didn’t work. At that point, he advised us to transfer Ben to the Children’s Hospital of Philadelphia.
At CHOP we entered a universe where everyone was quite comfortable with Ben’s diagnosis. While the disorder is rare, CHOP had lots of experience treating children with HI. We stayed at CHOP for 3 months while various treatment plans and surgeries were tried. At the end of September, 1996, when Ben was three months old, we returned home to Glen Ridge with Ben. He had two operations at CHOP, the first took out 95% of his pancreas and the second took out 99% of what was left. Even with the pancreatectomies, Ben was prone to severe hypoglycemia. CHOP had put Ben on an insulin pump with octreotide and glucagon, a hormone that raises blood sugar levels. The combination of using the medication and frequently feeding Ben kept his blood sugar levels mostly in the normal range. Ben was very hard to feed and he needed to be watched and monitored at all times. For those reasons we had nurses coming to the house to help us take care of Ben. We were very fortunate to have private insurance that would cover nursing. The nurses really helped us to take care of Ben. In addition to nurses I always felt very lucky that my husband, Mark, was always such a committed father and husband, unafraid to care for a child with multiple physical issues. Mark and I have always felt that our struggles to keep Ben healthy strengthened our family bonds. We were always in this together.
When Ben was 2.5 years old, even with the treatment plan in place, Ben’s blood sugars started to drop dangerously low. We went back to CHOP and a third pancreatectomy was performed and a g-tube was placed for Ben so that he could take in carbs at night while he slept or in the day if he didn’t feel like eating(Ben never felt like eating. This is one of the hallmarks of the disease). After the operation Ben’s blood sugar levels were much easier to control than even before the precipitous drop that prompted us to go to CHOP. Ben no longer needed to receive octreotide 24 hours a day subcutaneously. He dropped down to intermittent shots of octreotide. Ben’s blood sugar level could still drop rather quickly but we were always able to bring it back up quickly with emergency glucagon or a high carbohydrate snack.
Soon after Ben returned home from CHOP in 1998, he developed a seizure disorder that he would have until the present day. The disorder has always been under good control but Ben has needed medication to ensure that he does not have seizures. We also found that Ben had trouble seeing. Due to the prolonged hypoglycemia at birth Ben had developed nystagmus, rapid movement of the eyes that is not controlled. This causes vision to be blurred and it cannot be corrected with lenses.
Even with all the issues and complicated management of HI, it was wonderful to have Ben home with us. Our extended family and friends were very supportive. I don’t know what we would have done without them. The grandparents were all particularly involved both with Hannah and Ben who delighted in spending time with them.
Ben started school when he was three years old. The start of school was a wonderful new chapter in Ben’s life. He loved being around other children and learning. He received special services for speech, occupational therapy, and physicial therapy, and this helped him to catch up to his peers in critical areas of development.
While Ben was doing very well and was growing into a very happy child, he still needed lots of special care and attention. I needed support from people who lived with this disorder everyday. I was so lucky to find that support through a Yahoo group on the Internet. A father of an HI child in Boston started a group where parents could communicate on the Internet. This group became a lifeline. We parents would share our concerns and support each other through all the difficult chapters of caring for an HI child. This group grew and grew and came to include hundreds of people from all around the world.
In 2003, in Philadelphia, a number of parents worked with CHOP to offer an international family conference. It was a great success. Over a hundred people joined together to learn about HI. Physicians from the leading centers around the world came to speak to the families.
To create a more permanent support structure for HI families, a number of us started an organization in 2005: Congenital Hyperinsulinism International. This organization is dedicated to improving the lives of people living with congenital hyperinsulinism. Since its inception we have offered a number of conferences and other gatherings where families cam come together to learn and support each other. We also have a website with loads of material on how to better manage and cope with the disorder. We work very closely with the medical and scientific communities to better support HI families in a variety of ways. We try and support families where ever they may be on the globe. We are also very interested in supporting research and insuring that there will continue to be young pediatric endocrinologists who choose to specialize in caring for patients with HI in the future. We are also working to establish adult care for patients who have outgrown pediatric services.
When Ben was 10, he began to develop diabetes, which often happens to HI patients, particularly those who have undergone a number of pancreatectomies. While diabetes created a whole new set of issues to get used to and manage, Ben and our family quickly adjusted because we were used to dealing with blood sugar issues.
Ben’s sister, Hannah, has always been very close to Ben and even at a young age was ever ready to help support Ben through any medical ordeal he was going through. As she got older, especially in high school, this interest in Ben translated into a broader interest in health and biology. In high school Hannah studied biology and then biology AP. In Hannah’s junior year of high school, she introduced her school to Rare Disease Day, as a way of sharing information about often overlooked rare diseases with her classmates. With the support of the high school administration and her biology teacher, Hannah and her classmates each chose a rare disease to learn about and taught the freshman biology classes about these diseases. Naturally, Hannah chose to teach her classmates about HI, while the other students each chose a different rare disorder to focus on. Hannah and her classmates all wore “Be My Sugar” t-shirts to raise awareness of HI that had been designed for Rare Disease Day. Next year Hannah and her classmates are going to add a Rare Desserts Rare Disease Day bake sale to raise funds for and awareness of rare disorders.
Ben is now 16 and has many interests and likes to hang out with friends. He is keenly aware of what he has gone through living with a rare disease and having to manage multiple conditions, yet he really just feels like a typical teenager engaged in school and many other activities including a love of music and
theater. As a family we live a dual life, one devoted to making life better for folks living with HI while trying to enjoy our life together as just another average family.