This is a story of one little guys struggles in life, and it reminds me everyday that anything is possible. It is a story written by my oldest daughter Carrie about my grandson Robbie and his journey in life. He is my best friend and one of the Strongest, Smartest and Happiest people I have ever meet !
I would like to take this opportunity to share my son’s Rare Disease story. Robbie has Congenital Hyperinsulinism (HI). HI is basically the opposite of diabetes. His pancreas makes too much insulin, which in turn, causes hypoglycemia (low blood sugar). We’re not sure if Robbie was born with this disease or if it developed after birth. We don’t know if there is a genetic or hereditary link.
My pregnancy was normal and fairly uneventful. My husband and I decided to wait until “later in life” to have a child. We were both around 35, but had no issues getting pregnant. I have Multiple Sclerosis, but that didn’t seem to have any negative effect on my pregnancy. As a matter of fact, many of my symptoms faded while I was pregnant. By my ninth month, Robbie was in a breech position. I decided to have a C-section, which also went very smoothly. Robbie was born in January 2008, and there were no known issues at the time. All seemed normal. He was a good eater. Against the advice of my neurologist, I breast fed for the first 3 months before I had to go back on my medication for MS. He took to formula very well. He was a mediocre napper during the day, but a good night-sleeper and started sleeping through the night at around 12 weeks. He was physically, cognitively, and socially developing right on track. What a relief! As first-time parents, we went through all of the usual emotions of having a newborn human being to care for. We just wanted him to be healthy, happy and have a bright future ahead of him.
Starting around 6 months of age, Robbie began having “lethargic episodes,” as we called them. At times, he was very tired, unresponsive, limp like a ragdoll. He was also starting to regress developmentally. We took him to the doctor several times. Each time, because his symptoms were not being seen first-hand by the doctor, they were explained away. When he was 8 months old, he had his first seizure…or at least the first one that we actually witnessed. A full-blown tonic-clonic seizure, the first of many. We went straight to his pediatrician, then straight to the neurologist. He was diagnosed with epilepsy. We spent the next 3 months trying different seizure medications. They weren’t working. We began working with our county Early Intervention program because Robbie was not yet sitting up or crawling at age one.
In February 2009, when Robbie was 13 months old, we were at the neurologist’s office for more testing, and he started having a seizure. The neurologist said, “This is not epilepsy. Go to the ER. Now.” One of the first things they did (that no other doctor or ER that we visited ever did) was test Robbie’s blood sugar level. It was 6. Normal blood sugar range for anyone is between 80 and 100. He was limp and lethargic, but still conscious. With a blood sugar of 6, he should not have been conscious or even alive. My stomach turns as I recall that day.
The doctors gave him a dextrose IV to elevate his blood sugar. We then spent the next month and a half at the hospital trying to determine why his blood sugar would not remain at a normal level. We were shoving so much sugar, syrup, cornstarch, and nasty formula down his throat that he just stopped eating, so he had a g-tube placed.
A good friend, while surfing the internet, came across information about HI. We shared this information with our doctors, who finally contacted the Children’s Hospital of Philadelphia. As it turns out, the world-leading HI researcher is at CHOP. Dr. Charles Stanley diagnosed Robbie with HI over the phone. He was started on Diazoxide, a medication to control his insulin levels, and in turn, control his blood sugar levels. It worked. Robbie has not had any more seizures since starting this medicine.
In some cases, children with HI respond well to Diazoxide. We were fortunate that this was the case for Robbie, and we controlled his HI with that and regular meals. For the first couple years after he was diagnosed, he was fed via g-tube regularly through the day, as well as overnight to keep his blood sugar levels up. Once he began eating on his own again, we no longer used the g-tube for feedings, but he still has it for emergencies and to administer medicine.
We are still unsure what is causing Robbie’s HI. Much research has been accomplished, but there is so much yet to do. Dr. Stanley’s research has identified some gene mutations that can cause HI. In Robbie, all of these genes are normal. We are not sure at this time if HI will be a life-long condition for Robbie or if it is something he will eventually outgrow. We visit CHOP at least once a year for endocrine check-ups and sometimes fasting studies to monitor his status.
Sometimes children do not respond well to the medication, and they must have surgery to remove all or part of their pancreas in order to control their insulin levels. In many of these surgery cases, children may be “cured” of HI, only to develop diabetes, as they may not make a sufficient amount of insulin to regulate blood sugar levels.
As a result of the hypoglycemic seizures Robbie suffered before he was finally diagnosed correctly with HI, he has significant developmental delays. He learned to crawl when he was almost 2, and he learned to walk on his own when he was almost 4 (he still has an uncoordinated gait and wears orthotic braces). He needs assistance with many fine motor activities like getting dressed, eating with utensils, drawing, and drinking from a cup.
He is not yet talking, although he’s learning how to communicate in other ways. He doesn’t easily socially interact with other children or “pretend play” with his toys.
In October 2013, due to his social/emotional and communication delays, as well as the repetitive behaviors he exhibits, such as lining up his toys and having to do things in a certain way or order, Robbie was diagnosed with Autism Spectrum Disorder. Since the cause of ASD is basically unknown, we are not sure if the seizures also caused Robbie to develop autism or if it is something unrelated. This has been another new world of discovery for us.
I have listed many challenges that Robbie has been and is facing. I don’t like to focus on the negative, but I do so to convey how serious this condition can be. Hypoglycemia, when left untreated, is deadly. There are signs to look for in a person, especially a child, who is having a hypoglycemic episode – extreme tiredness and irritability, lethargy, inability to focus, excessive hunger, loss of consciousness, and seizures. It’s important for doctors to routinely check blood sugar levels, especially when these signs are present.
What I do want to focus on is the fact that Robbie, now 7 years old, is the happiest, strongest, funniest, bravest, most curious, most adventurous, smartest, most resilient, most determined…I could go on and on…kid I have ever known. Throughout this HI journey, we have been so fortunate to be working with some of the best therapists and teachers. He was involved with Early Intervention – physical, occupational, feeding, and speech therapy – from the time he was one year old until he entered elementary school. He started preschool when he was 3 years old and was involved with such a loving and accepting program where both the teachers and the children saw what a wonderful little boy he is. He is now attending his second year of Kindergarten in one of the best school districts around. His Multi-Disabilities Support teacher and all of his teacher’s aides and therapists are so wonderful. They really take his individual needs into account and plan accordingly (with us!) to ensure his success. He also gets to spend time with other children both in the MDS classroom as well as in one of the Kindergarten rooms. As was the case at his preschool, everyone absolutely loves Robbie and his smile!
He has made so much progress over the past several years. He is starting to use an iPad app for his communication needs, since he is not yet using language (although he is starting to “echo,” which is another step in speech development!). He is moving around better and better every day, and he loves to explore. He’s learning how to hold a crayon to draw and trace. He loves numbers and counting. He knows his alphabet, how to spell his name, and he loves to read. He knows so much more than what we sometimes give him credit for!
In March 2013, Robbie’s little sister Rachel was born. Thankfully, she does not have HI (we checked her blood sugar when born and for the first year of her life) or any signs of Autism Spectrum Disorder. While she surprised us all with her arrival, I whole-heartedly believe that she came along for a reason. She loves her big brother so much and wants to do everything he does! We have no doubt that she will be an integral part of her brother’s growth and development. We have already seen greater progress in him since she came along. He may not always want her on his heels now, but I’m sure that will not always be the case!
We are blessed with wonderful family and friends who have supported us along the way. Robbie has an abundance of grandparents, aunts, uncles, and cousins who love him to pieces! We have also received support from various online communities, one of which is Congenital Hyperinsulinism International. CHI has been a wonderful resource not only for information on HI and the latest research, but they also coordinate a widespread and supportive Facebook community of parents with children who have HI.
We are anxious to see what is next for Robbie. He is so determined and so strong. He will do great things! Thank you for reading about our Rare Disease story. For more information about HI, please visit
www.congenitalhi.org.