Sarah Bates is married to Kenn Bates, born with congenital hyperinsulinism (HI) and is the mother of Rachel, a child with the condition. Sarah is also Parent Research Coordinator for the CHI website. Sarah was recently at the Children’s Hospital of Philadelphia (CHOP) with her daughter who was taking part in a research study on an investigational medication: “Effect of Exendin-(9-39) on Glycemic Control in Subjects With Congenital Hyperinsulinism.” The trial sponsor is Dr. Diva DeLeon.
We asked Sarah as part of her stay at CHOP to describe the research project her daughter is a part of from a parents’ perspective. We also asked her to reflect on family life with the condition. She does so with great wisdom and humor.
Tell us a little about yourself and your family. Where do you live? How do you like to spend your free time? What do you and Kenn like to do?
Oh where to start…
My name is Sarah Bates. I am married to one of the older K-ATP HI patients, Kenn. We have two children, Rachel (6) who also has HI and Benjamin (4) who does not have HI. It has been a very eventful year for us! This summer we moved from Portland, OR to Albany, NY. My husband worked for a large semiconductor company in Oregon where he worked 60+ hours a week and was on call 330 days a year. I also worked as a lab technician for a large health organization part-time. We decided all of this working was not really conducive to a happy and healthy family. Kenn has taken a job with a semiconductor startup here in New York and still works many hours, but is not on call nearly as much! I have become a stay-at-home mother and I must say it is the most challenging position I’ve ever held! We’ve finally unpacked and the area is starting to feel like home. Benjamin and Rachel are enjoying their new schools and Kenn is settling into his new job.
I understand you are at CHOP for the exendin study. What is it like to be part of a study?
Yes, we just returned from our trip to CHOP to participate in the exendin study. Being part of the study is a lot like the yearly in-patient fasts except it is four days instead of the normal two if you do it all in one trip. We were given the option of doing the two days of fasting in one trip then returning for the two days of protein challenges. One day of fasting is with exendin, and one without. The same for the protein challenges. We guessed it would be easiest to do all four days in one trip, because Rachel needed to be taken off of diazoxide. It just made sense to us to only go off diazoxide once.
How is the study going? How did Rachel do?
As one would expect, the study was hard on her (and me). She did not like having two IV’s and didn’t like skipping breakfast and having a late lunch every day. As we were leaving, though, what she reported as difficult for her was the tape removal. 😉 She is such a strong girl, as all of the HI children tend to be! All in all, it was not as hard as we feared and the parts that were difficult were quickly forgotten.
Why did you agree to have Rachel be part of the study?
There are actually several reasons we felt it was important for us to participate in the study. First, is that through the parent groups we have met many parents whose children do not respond to diazoxide and ultimately end up needing surgery. The complications of octreotide and surgery are much more severe than any difficulty Rachel might have from a week of fasting studies! If we can help any children avoid surgery and or lifelong diabetes the week is worth it! Our second reason stems from Kenn’s participation in the original clinical trials to test diazoxide. Before diazoxide was approved patients were only able to treat with diet or a pancreatectomy. Kenn, as I understand it, was one of the first patients who lived past childhood with this disease AND still has his pancreas. Rachel was treated with diazoxide starting at about 10 days of life and has never had a low blood sugar seizure as a result! Kenn’s participation directly impacted our family even though the two events were thirty years apart. His parents had no idea at the time of his participation how the result would come full circle by being used to treat Rachel. With that experience it only makes sense for us to think of our grandchildren and how we could be helping them. If they could have another medication option to prevent the need for surgery and complications the short term difficulties and discomfort pale in comparison!
How did you discover Rachel has congenital hyperinsulinism?
When I was pregnant with Rachel we did not yet know Kenn’s mutation, so the obstetricians did not take us seriously. Of course, we suspected our children could inherit it, but we had no idea what the chances could be. The obstetrician seemed to not be concerned and we foolishly thought “they” knew best. We could not have been more wrong!
Rachel was born at 36 weeks and was lethargic at birth. Mommy intuition thought there was something wrong instantly, because she did not cry. The three nurses and physician treating her at birth kept assuring me everything was fine. I kept asking right up to the moment they took me to surgery for repairs related to the birth. When I returned to the delivery room from surgery an hour or so later I was informed that Kenn requested her blood sugar be checked at about 45 minutes of life. Her sugar was 19! They fed her and started dextrose IV’s. I was allowed to see her for a few minutes before they whisked her to the NICU. Due to my own complications I was not able to see her for several hours. During that time her blood sugars fluctuated around 20-40 mg/dL with dextrose infusion and every 3 hour feeding. We talked at length with the neonatologists and nurses about HI and even provided them with journal articles in which Kenn was a subject as a child and with more updated relevant articles. We encouraged them to talk with Dr. Stanley at CHOP not knowing we could call ourselves (What can I say, we were overwhelmed and had not yet learned that sometimes challenging or going around a local physician is sometimes necessary). The docs were not convinced Rachel had HI. They thought it might be possible, but were assuming her low blood sugars were created by my gestational diabetes. (UGH!) Two days after her birth they let us go home after she was able to maintain blood sugars above 45 mg/dL (or was it 50, either way it wasn’t enough). We were to WAKE HER to check her sugars and feed her every three hours and come back to the hospital if there were any below 45 mg/dL.
In what I can only describe as a miracle, Dr Stanley’s nurse at the time, Susan Becker had left at least three messages on each of our home and work numbers telling us that after ~7 years of testing they had identified Kenn’s mutation. Within a few days, we were able to arrange a phone conference with Dr. Stanley and Susan. We explained why we had not replied to their messages sooner. We had been a little busy! After detailing the events, they said they thought Rachel had HI and contacted a local pediatric endocrinologist for us. That Monday, we spent the entire afternoon in her office taking blood samples, being taught how to check blood sugars (thankfully we already knew how given my profession ;-)), taught how and when to use glucagon, and started diazoxide that day. In retrospect, we probably should have pushed to stay in the hospital longer, and frankly should have pushed to have her readmitted. Given what we know now, the risks, in my opinion, were profound. Again, with a slightly OCD mother and helpful father, by some miracle we kept her safe.
How would you characterize the diagnosis process?
Kenn’s diagnosis is classic for an HI baby with no known family history of the disease. He weighed 10 lbs 11 oz at birth, had his first seizure shortly thereafter and spent the next three weeks in the NICU. In the early 70’s parents were not allowed into the NICU and mothers were essentially prevented from breastfeeding their infants as a result. This was especially hard on his parents and older brother. When he came home his sugars remained relatively stable until the transition to solid foods led to at least one more seizure (I’m not exactly sure how many he had in total, but this one was profound). Doctors had no idea what was wrong with Kenn until a pediatrician who had done a residency at CHOP remembered the research Dr. Baker and a new doctor, Dr. Stanley, had been making with what was at the time termed “leucine sensitive hypoglycemia.” Kenn was diagnosed, put on leucine free formula that was manufactured specifically for these children and shipped to their parents. Kenn participated in the clinical trials for diazoxide, which had failed as a drug for hypertension, because it caused increased blood sugars! He was also one of the first patients to get a glucometer for home use! My favorite thing to try to encourage parents of the newly diagnosed is to share that despite Kenn’s seizures and a prediction of “at least a learning disability” he graduated in 2003 with a PhD in physics! Not all situations will turn out this well, but a diagnosis of HI and seizures from low blood sugar do not absolutely guarantee a bad outcome. We do tease Kenn that his love of math and physics is his disability (you know, being entirely too smart also has its disadvantages, like not being able to find the grocery store ;-))
Rachel’s diagnosis was frustrating to me, because we had the family history, but no one thought it was significant. I was “young” so to speak and did not know how or when to properly advocate for my child. Motherhood has made me much stronger in many ways!
How long was Rachel at CHOP at his initial visit?
Because Rachel did not have any critical lows (per the criteria we were given by the NICU staff) and her immediate response to diazoxide therapy, our first visit to CHOP for Rachel wasn’t until last year! Her first fasting study wasn’t until she was 11 months old and was done locally. Her next fasting study wasn’t until November of last year. She has been managed using home glucometer results alone. Given what I know about the disease now, I strongly advise regular fasting challenges at a center of excellence for HI.
Have you found the condition hard to manage?
That is a very difficult question to answer. We have been lucky that Rachel has not had a blood sugar below 50 mg/dL since she started diazoxide, but that is often the result of much nagging and unwavering attention to blood sugar. This can get me labeled as overly anxious or a helicopter parent. I find this annoying, but I’ve gotten used to it and have learned to be compassionate with others. They don’t understand what it is like to see someone with a critically low blood sugar and I pray they never need to learn. This can be emotionally draining. When she is a picky eater or sick it can be scary, because she fluctuates so quickly and I have to all but force feed her juice to keep her safe.
What do you do to relax?
Xanax!—-just kidding!
My main adult conversation time comes from chatting on FB. I know, it sounds lame, but I’m able to chat without the child radar that kicks in when a mother picks up the phone. In retirement, Kenn and I would like to live near a university so we can take all of the “fun” courses we didn’t have time for while pursuing our degrees and get to play in the symphony. My first attempt at college was as a viola major and Kenn paid half his undergrad tuition with a tuba scholarship. Somehow, we’ve never had the opportunity to play in the same ensemble! Whenever we get the chance, we like to visit museums and state parks. Obviously, this doesn’t happen often…..
Did you have to make big changes in your lives as a result of having a child with HI?
Because, we already carry snacks everywhere for Kenn and make sure he eats every couple of hours adjusting to another person with the disease was not a big deal. Now, the diapers, car seats, strollers, lack of sleep, extreme laundry, and such….that was a major adjustment!
Being an HI parent is a tough road. How do you get through it?
They say that when you make a major change in life you invariably lose some friends and gain others. I’ve found that to be true with having an HI child as well. When I got married, the proportion of my friends that were single versus married shifted. The same happened when our family expanded to include children. The things that used to interest me shifted and I just didn’t have as much in common with my “old” friends. In my social group Kenn and I were one of the first to have children. As anyone with children knows your childless friends don’t understand bedtime routines or playdate schedules, etc. When our friends started having children they didn’t understand why we would, for example, “let” Rachel have sugary snacks or “let” her be a picky eater at times. They didn’t understand that sometimes getting her to eat is more important than getting her to eat what I want her to eat. Now, we also have friends that understand the bedtime routine AND the blood sugar checking routine. Our friends, for varying reasons understand or at least don’t judge the things we do to care for Rachel (eating every 2 hours is not negotiable, medication is just part of the routine, etc, blood sugar check always precedes discipline-though discipline is never neglected!). What I’m getting at in a very circuitous route is that having a strong sense of community makes all of the difference in the world.
I am incredibly grateful for the FB HI communities that have helped me walk this road! I am also grateful for the conferences and I love the regional, more informal get-togethers. For example, I had the pleasure of talking with Rianna Sommers’ mother about making HI easier for Rachel. She shared that she got multi-colored lancets for Rianna. Rianna (and now Rachel) get to pick the color of the lancet, which gives them some control over the process and therefore gets their “buy in” and makes compliance with blood sugar checks easier. These wise mothers have taught me how to advocate for Rachel and how to negotiate many of the bumps in the road of parenting. The older kids with HI that I have had the blessing to befriend have also taught me a great deal. For example, did you know that the beep on the glucometers can be turned off so blood sugar can be checked in public places without attracting attention? Kenn is much more willing to check his sugar at work and in meetings if it is not going to alert others to what he is doing! Such simple things I never would have thought of myself, but because we have such an amazing community I don’t have to reinvent the wheel!
What do you think the HI community should be doing to raise awareness of the condition to increase timely diagnosis?
As parents who have spent time at the hospital we know that it can be very exhausting, emotionally draining, and financially taxing over time! What if we started some fundraising efforts to help pay for the meals for the parent that stay at the hospital? I also think it is very important to make sure parents of newly diagnosed children know we are here. What if a basket was placed in the room of every new HI patient that puts a few comforts of home, a stuffed animal or some small toy, and information about CHI and HI? Parents are inundated with information at first and having written information about CHI they can reference when they are ready would be helpful. As parents, it might be easier to fundraise to support CHI if we could tell people we are trying to not only help fund research, but to directly help patients in the hospital right now.
