Charlie's journey with congenital hyperinsulinism

Charlie was diagnosed with congenital hyperinsulinism at Great Ormond Street Hospital. Here, his family describe their journey in a picture video.

"Charlie was born 12 September 2010 weighing 9 pounds 10 ounces and seemed very healthy.

"Within 12 hours his blood sugars had dropped dangerously low and he was rushed to Wexham Park special care baby unit. Despite the excellent care available, it was soon obvious he needed the specialist care available at Great Ormond Street.

"On 22nd September Charlie was transferred by ambulance to Great Ormond Street.

"On his arrival Charlie had emergency surgery to insert a Hickman line. He also had subcutaneous needles inserted into his thighs to give continuous infusions of glucagon and octreotide.

"For most of his hospital stay Charlie was permanently connected to a variety of machines."

"A healthy pancreas only produces insulin when blood glucose is high in order to return these levels to normal. Hyperinsulinism is the inappropriate production of insulin by the pancreas when sugar levels are low. This causes hypoglycaemia, which can lead to seizures, brain damage and even death. In some cases of hyperinsulinism the entire pancreas is affected, this is known as diffuse hyperinsulinism. In other cases only a few cells are affected and this is known as focal hyperinsulinism."

"In healthy pancreatic cells, potassium ion channels remain open and allow potassium ions to accumulate outside the cell. When glucose levels rise this stimulates the potassium ion channels to close through the production of a molecule called ADP. When the potassium ion channels close, the potassium ions build up inside the cell and causes calcium channels to open.

"Calcium ions move into the cell in turn and stimulate the release of insulin. When the ABCC8 gene is faulty then the potassium ion channels is also faulty, therefore, the cell is always full of potassium ions and these constantly stimulate the calcium ion channels. Insulin is released all the time even when glucose levels are low.

"The scan showed that Charlie’s hyperinsulinism was focal, therefore, it could potentially be cured by surgery. Charlie’s PET scans show clear focus in the body of his pancreas."

"Charlie has inherited two different copies of the ABCC8 gene - one normal copy and one faulty copy.

"Throughout most cells in his body and even through the majority of his pancreas the normal copy has been able to produce working potassium ion channels. However, in the cells within the focal region there has been a deletion of part of the maternal chromosome. This section of the chromosome contained the only working copy of the gene and caused the cells to constantly produced insulin.

"Charlie’s first pancreatecomy removed 35% of his pancreas, but unfortunately a section of the focus remained and with it his dependence on IV sugars. Due to underlying bronchiolitis, he also spent a day in intensive care. Charlie’s early episodes of severe hypoglycaemia led to seizures. Luckily an EEG and an MRI scan showed no obvious physical damage and his dependence on anti-seizure drugs was temporary.

"Despite everything Charlie remained a happy and sociable baby. All family members maintained regular and welcome visits."

"In November, Charlie became the first baby to undergo an 18F dopa PET scan at University College Hospital. This was all thanks to a new relationship forged between Charlie’s Uncle Dave at UCL and the GOSH endocrine team. On 6th December Charlie underwent his second pancreatectomy. A further 15% was removed and with it the focus. His sugar requirements dropped immediately.

"Although he needed a post-surgical blood transfusion, this was a wonderful day.

"No longer dependent on TPN, Charlie could be moved around in his pram for the first time.

"Charlie managed to get a femoral line infection soon after surgery, but X-rays and blood tests showed he was soon clear of infection and well on the way to recovery.

"Charlie and mummy moved into a room in order to encourage feeding. At last the Hickman line is removed."

"Both Charlie and Owen make it home for Christmas."

"Charlie was discharged from hospital 11 days after his 2nd pancreatectomy, age 3 months 5 days. Two days before Abby’s second birthday and eight days before Christmas. A very special day for the whole family.

"For many months after coming home Charlie had severe reflux and was 100 per cent NG tube fed.

"Nearly every feed was projectile vomited and Charlie showed no interest in food or milk. He spent many months surrounded by towels and we tried numerous bottles and feeding techniques, but to no avail.

"In March Charlie was diagnosed with cow’s milk protein intolerance. Six weeks after moving onto Neocate he stopped vomiting. Two weeks later he suddenly started to eat. In July, age 10 months, Charlie was eventually able to get all of his nutrition orally and the NG tube could be removed. Due to his reflux and ketotic hyperglycemia, Charlie continued to have regular hospital visits, however, he didn’t see any excuse not to enjoy them.

"With thanks to everyone at Great Ormond Street Hospital who gave us our beautiful baby boy."