Eleanor was diagnosed with hyperinsulinism (HI) when she was three years old and is currently treated at Great Ormond Street Hospital (GOSH). Here, Rebecca, Eleanor’s mum, shares their story.
Rebecca describes HI, “we always start with it being the opposite of diabetes. We came to say that Eleanor’s pancreas produces too much insulin and that causes low blood sugars and prevents her body from doing any emergency backups that are needed to protect her brain when her sugars are low.”
Rebecca says “The general pattern with HI is that it’s diagnosed in younger babies. Eleanor was very unusual as she was perfectly healthy until just before she turned three years. And then quite quickly we used to get problems in the morning. It turns out, Eleanor was experiencing seizures. She wouldn’t be able to talk or walk and she’d just be staring at the wall. She would also get this blue round her lips.
“It was very, very hard to convince health care professionals that something was wrong. This cycle of taking her to the doctors went on for 8 months. It was a really long time, and I was very stressed by the end of this.
“Meanwhile, Eleanor’s complexion changed. She was white as a ghost all the time with these big red circles under her eyes. Her development stopped, so she couldn’t tell colours like red and green apart anymore. She even lost her ability to count. She would lie on the couch for 2 hours a day and just had no energy. I knew something was really wrong.”
Getting to GOSH
“In the end I bought a glucometer [a little portable machine used to measure how much glucose is in the blood]. The first reading we ever got was a morning when Eleanor was absolutely fine and had no symptoms. I thought, best check what she is normally, so we know how bad she gets. And she came up as a 2.4, without symptoms! For the majority of healthy individuals, normal blood sugar levels are between 4.0 to 5.4 mmol. So, we were way below. We never got any readings above 3 any of the times we tested Eleanor.
“In the end we actually paid and went privately, to get the ball rolling. From then on, things developed quite quickly. We discovered that Eleanor wasn’t producing ketones. [Ketones are a type of chemical that your liver produces when it breaks down fats. Your body uses ketones for energy typically during fasting, long periods of exercise, or when you don't have as many carbohydrates].
“We were still in the diagnostic stage and in the process of getting a referral to GOSH, but in the meantime Eleanor got so sick that I wound up in A&E with her. They discovered that her sugars kept dropping unexpectedly and they were able to push that transfer to GOSH through.”
“We had never heard of HI before. To be fair I was actually really calm about the diagnosis because I’d given up hope that there was anything we could do. She was so ill, I had almost accepted that there was no way to get out of the situation without her having some kind of illness. So, when they told us that Eleanor has hyperinsulinism it was like “of course she does”! It was a relief that we have a group of people that are listening to us and are doing tests and making sure she’s safe. The moment we got that diagnosis we had so much support and so much information. We felt so much more secure.”
“One of the things we discovered in our journey with Eleanor and HI is that she kind of likes to be the exception to the rule. When she was diagnosed, they were very reassuring. They said that we’ll start her on diazoxide, she’ll be responsive to that and it’ll all be good. I remember them talking us through the levels of treatment and they were going through the more severe treatments, explaining about children with pegs. [A PEG, percutaneous endoscopic gastrostomy, is a way of introducing food, fluids and medicines directly into the stomach by passing a thin tune through the skin and into the stomach].
“It turned out that Eleanor is responsive to diazoxide, but only partially. So, what happened is that we’d take her to GOSH, but as soon as Eleanor would come home, her sugars would drop and then we’d go back to GOSH. So, we went back and forth until the beginning of 2019 when she had to have a longer stay and we tried some other treatments.
“We tried using acarbose [anti-diabetic drug] and Lanreotide [ a kind of growth hormone]. She responded unexpectedly, in a negative way, to acarbose. Lanreotide gave her severe side effects and didn’t really affect her sugars enough. So, we had to go back to the diazoxide! But the diazoxide wasn’t doing enough, despite her being on a really high dose, so now she does have a PEG. We have all these challenges with what affects her sugars. She eats orally but needs the PEG to last overnight.
“She was going hypo overnight every 2 hours, so this allows us to give her sugary solution overnight to hold her sugars. We also give her cornflour through it during the day, because she has problems with food and is protein sensitive. We also give her fibre milk in the evening, so there’s a lot that goes on with her day.”
[A hypo, hypoglycemia, is triggered when blood sugar levels fall under 4 mmol/L. For example, too much insulin or too little food can spark a hypo].
“Eleanor usually goes hypo between 1-3 times a day. Eleanor is what you’d called ‘hypo unaware’, so she doesn’t really feel any symptoms and her body doesn’t really show any symptoms.
“We only go down to GOSH if it’s a clinic appointment, which now during the pandemic is a video call. We haven’t been to GOSH since we had her PEG put in and that PEG has really been a game changer for our family. Before, I was having to get up 6-8 times a night to treat her and that meant waking her to give her the medicines, in order to get her out of the hypo. So now she can sleep all night and put medicine through her PEG without waking her, so that’s been really great. We still have to get up 2/3 times a night. But it’s not 6-8 times! She hasn’t had a hospital stay since she’s had her PEG and that’s been really amazing for us.
“We still struggle with her sugars, to keep her stable. So, she may need a trip down to GOSH in the near future. We keep increasing her diazoxide, but it doesn’t really have the effect that we want it to.”
Our time at GOSH
“The big thing would be the activities at GOSH. That was a really big part of it for Eleanor, because that gave her an escape for a while. When she talks about her experience of GOSH, she doesn’t start with all the tests. She remembers the nurses and which ones are really funny. She remembers all the activities she did, like making cupcakes one day. I’m really thankful that GOSH has those facilities to shine a light away from everything else that was going on.
“The Lanreotide hormone injections in particular were really traumatic for her. But if you ask her now, she says she can’t remember. I thought that would’ve stuck with her, but she says she can’t remember them at all.”
“She really has her heart set on certain careers. I know a lot of kids when they’re young talk about how they want to be a doctor. She always talks about how she’d like to become a paramedic, a scientist or an astronaut. These are all very legitimate goals to be working towards. We try and support her.
“We actually know another family and the daughter has HI too, except she’s 20 years older. What are the odds! We know that she also wanted to be a paramedic, but she couldn’t because she has HI. So, my hopes are that Eleanor can do whatever she wants to do, without HI being that limitation to her. I hope that in the future there’s a treatment that she responds to better and that allows her to do what she would like to do.”