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: https://www.facebook.com/home.php#!/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.
