Living with hyperinsulinism

Trevor and Ellie
Trevor and his wife were delighted when their first child, a baby girl, arrived safely after a perfectly normal pregnancy in July 2007.

But the night they got her home, it became apparent that something was wrong.

“She wasn’t feeding well, she was cold and quite lethargic - we had no idea what the problem was,” says Trevor.

The couple, who live on the Northern Ireland coast, took little Ellie to their local hospital where she started having seizures. Tests revealed her blood sugar levels were dangerously low. Her condition deteriorated rapidly – she stopped breathing and, after being ventilated, she was rushed to the nearest regional hospital.

The doctors told Trevor and his wife that they suspected hyperinsulinism (HI) and they wanted to consult Dr Hussain at Great Ormond Street Hospital.

“We had never heard of the condition,” says Trevor. “No-one in the family has blood sugar problems and we got on the internet to try and find out more about it.”

Confirming the diagnosis

Ellie was flown to GOSH by air ambulance to begin her treatment under the HI team at GOSH. To confirm her diagnosis, she had a number of investigations at GOSH and a PET (18-F Dopa Positron Emission Tomogragraphy) scan.

“It was incredibly daunting - we knew of GOSH, but you never imagine that your child might need to go there,” says Trevor.

After more tests to confirm Ellie’s diagnosis, the GOSH team told Trevor and his wife that their daughter had diffuse hyperinsulinism, a rare form of the condition with an incidence of only one in 35,000, and that it was especially hard to treat.

It meant that her whole pancreas, the organ involved in producing insulin to regulate the body’s blood sugar levels, was diseased. Ellie’s pancreas was pumping out insulin continually, resulting in dangerously low blood sugar levels. Normally the pancreas is able to carefully regulate the production of insulin, releasing it only when blood sugar levels are high, resulting in stable blood sugar levels. 

At GOSH, the team’s priority was to stabilise Ellie’s condition before planning the next stage of treatment.

“It was very frustrating - one type of medication would seem to work for 48 hours, then its effect was revoked. But the GOSH team really understood the condition, they knew how to keep Ellie clinically well. Her lifeline was intravenous fluids with a very high concentration of dextrose (sugar),” says Trevor.

Keyhole surgery

The GOSH team then dropped a bombshell - they proposed to Trevor and his wife that the best way forward would be to remove most of Ellie’s pancreas.

“It came as a shock - you don’t like to think of something being removed from your baby’s body but we knew it would give her the best chance,” says Trevor.

“The surgeon explained beforehand that Ellie was only the 12th person in the world to have this procedure. It was carried out by keyhole surgery which was great from a cosmetic point of view, and they managed to remove 98 per cent of her pancreas.”

Meanwhile, Ellie’s condition meant she was also suffering from a continual problem with vomiting. She was being sick up to eight times a day and the couple had to learn how to pass a naso-gastric tube simply to feed their daughter.

Heading home

“It was all a huge learning curve” says Trevor. “By November we were able to go home and even though we had been through so much, little did we know then that it was just the start of our journey.”

At home, the couple tried to make life as normal as possible.

“It was hard work though,” says Trevor. “We went through long nights with Ellie screaming She was still being sick and she often pulled out her naso-gastric tube which was really stressful.

“We were in constant contact with the GOSH team. Clare, the specialist nurse, reassured us that Ellie would grow out of the vomiting problem and eventually she did - it decreased then disappeared.

“She was then ready to start eating real food. Clare advised us to let Ellie set the pace, and one day she tried a small piece of parsnip. To us it seemed incredible - it was such a delight to see her doing something as simple as eating. Her blood sugars were pretty stable and everything seemed to be going in the right direction.”

Having another baby

By now, the couple knew that Ellie’s condition was genetic. There was a one in four chance that any future children would inherit the problem. Making the decision to have Sam was tricky, but the odds were that he would be unaffected.

“Sam arrived in February 2009 and my wife had him in our regional hospital as a precaution - we really believed he would be OK,“ says Trevor.

“But as soon as he arrived his blood sugar levels were found to be low and we knew straight away - it was like déjà vu.”

This time the couple felt better prepared. They were at GOSH with Sam within a week but his condition proved even more complicated and difficult to manage than Ellie’s.

“Sam basically rewrote the textbook when it comes to hyperinsulinism,“ says Trevor.

“So much happened that year. The GOSH team tried every medical treatment but they didn’t work. His vomiting was worse than Ellie’s – and he needed additional treatment and surgery to try and control it. He had surgery to have most of his pancreas removed (pancreatectomy), but he still remained unresponsive to medical therapy. He had to have a second pancreatectomy a few months later to remove virtually all the remaining pancreas, but it took him a long time to recover.”

Both children ill together

During Sam’s illness, Ellie’s condition suddenly went downhill. She had been itching a lot due to liver function impairment caused by surgical complications, something which the GOSH doctors were aware of and had been keeping a close eye on.

“She was whisked rapidly into theatre on a Sunday evening with a huge team of surgeons all specialising in different areas - they weren’t sure what they would find. It was a liver and bile duct problem and they repaired it,” says Trevor.

“I’m sure that if we hadn’t been at GOSH with Sam, with all the experts on hand, Ellie would never have made it - her condition deteriorated so rapidly.”

After months at GOSH - including spending Christmas on Rainforest Ward - and various other operations for both Ellie and Sam, the family eventually made it home on New Year’s Eve. For both children, management of their blood sugar levels was under control.

Looking to the future

“To look at them both now it’s amazing - you’d never know there was anything wrong,“ says Trevor.

“They are up at 6am full of energy, they have met all their developmental milestones and Ellie has started nursery.

“Sam still needs injections and they are both connected overnight to feeds that help maintain their blood sugar levels. But otherwise they are absolutely fine. In fact the consultant who first saw Ellie in our local hospital can’t believe how well she is today,” adds Trevor. 

“It’s been a long journey and both children have suffered various complications, but the GOSH doctors and nurses on Rainforest Ward have been fantastically supportive. They helped us get through our dark days. The advice and learning we have received from the team has been second to none. We feel we have a lot to be thankful for.”