After Gemma's throat operation, things got better for all of us. We were able to relax and enjoy life with her and focus on the new arrival. At 13 months old, however, Gemma's blood sugars became dangerously unstable, and the medication was not helping anymore.She had a seizure on us, whereby her head was thrown back, her eyes started rolling back into her sockets and her body started shaking. It was one of the worst moments to remember. We realised that she was starting to grow immune to her medication and we needed to find a new solution.
Since shortly after Gemma was diagnosed we had been in contact with a pediatric endocrinologist at Great Ormond Street, London and a world leader in this condition.We took Gemma to London shortly after her seizure to meet him, and to find out what the future options for her were.Whilst we were there, he tried a new diet, increased the medication, etc. but nothing helped to keep her blood sugars stable. The only remaining option was to have a near total (95% Pancreatectomy), whereby 95% of her pancreas would be removed and therefore not produce as much insulin, helping to keep her blood sugars stable.He called us into his office on a Wednesday, and said that by some miraculous chance, there was a surgery date available on the same Friday.(Usually patients could wait up to 6 weeks for an opening such as this).Without much thought we agreed that this would be the be the only and best option for Gemma.Gemma would be a private patient, and the cost of the hospitalisation would be roughly 1000 pounds per day (R10 000 per day). Many of our family members contributed towards this payment, which in the end came up to about R300 000.After a long struggle, our medical aid compensated us with R120 000.
Gemma was admitted on the 19th of November 2008. She had laparoscopic surgery, which took 5 hours. It took her about two days to recover, and after that we couldn't keep her in the hospital bed. She wanted to crawl all over the place. For the first few days after the operation she threw up most of her feeds, which wasn't unusual to this type of surgery. She was discharged after 7 nights, but when we took her out she continued vomiting for the next 24 hours. The following morning, (after having her on a constant feed throughout the night), her nappy was bone dry. I remembered a friend having told me that that was a sign of severe dehydration. I left Gemma with Michael and ran to the nearest pharmacy to find some rehydrate. It was a Sunday and everything in London is closed on a Sunday morning. We phoned GOSH and they said we should return to the hospital immediately. We were on our way there on the tube, and Gemma had gained a bit of colour in her cheeks and was being very friendly to the passengers. She was facing Michael, and I heard her vomit again. From the expression on Michael's face I knew there was something drastically wrong. He motioned for me to look at her, and her face was as white as paper, her lips were bright blue and her hands were ice cold. At that moment the tube stopped and a voice over said there would be a delay. We had all our luggage in the tube as we were meant to be flying back to South Africa that day, but with a non verbal agreement, I picked Gemma up and ran out the station, leaving Michael with all of our luggage. In hysteria I managed to hail down a taxi, and without telling the driver he was already taking us to GOSH. At this stage Gemma was floppy in my arms, with no sign of movement. The nurses were expecting us in the ward and there was a doctor on standby. Nobody could find a single vein to put a drip in, as her veins had contracted to keep her heart pumping. They eventually had to insert something into her bone marrow in her leg to get fluids into her. This was the worst experience that we have gone through to date, and we trully hope there will be no more like that ever again. The operation was a success, in a sense that Gemma’s blood sugars have seldomly dropped to dangerously low levels (below 2.5)She still, however, goes through phases where she randomly has low blood sugars, and because of this we still have had to moniter her sugars regularly and feed her regularly.Earlier on this year she went through about a six week period where we struggled to keep her sugars above 3, and although she may not be at such a high risk of having a seizure, prolonged low blood sugars may cause other long term problems such as brain damage.In May we took her to see her endocrinologist in Jo'burg, and she is currently back on medication (Diazoxide and Nfedipine) to help stabilise her blood sugars again.We are thankful that these are tablets and not injections. Since Gemma’s birth our main focus has been on keeping Gemma’s blood sugars stable.The second challenge, that has been associated with the CHI, that we are facing is the fact that Gemma does not eat orally.She has been 100% tube fed since birth.With her regular feeding schedule, to keep her blood sugars stable, she has probably never developed a sense of hunger.Gemma tries really hard to eat, but it is miniscule amounts that would never keep her blood sugars stable.She does not know how to chew things into small enough pieces, and because of this she often chokes and then vomits.We have taken her to speech therapists in South Africa to try and help with the feeding problem.We have received helpful advice, and because of this she is willing to try and eat.However, the only way to get her to eat, is by weaning her off her feed completely so as to allow her to be hungry, and at the same time making sure her blood sugars remain stable.We have tried this at home, but with no success.
As Hyperinsulinism is such a rare condition we have not come across any services in South Africa that offer such a weaning process.Just by chance, we recently came across an email sent to us whereby a family were raising funds to take their child to a hospital in Austria (Graz) to wean him off his tube.We did some research, and found that this hospital has weaned many children off their tubes successfully, and amongst those children were 10 hyperinsulinism children.This has given us great confidence to try and get Gemma to Graz, in order for her to learn to eat and therefore to lead a normal life.She is turning 3 in September, and we have come to realise that if she doesn’t learn to eat she may not be able to attend regular school, amongst many other disadvantages.