Patron:
Sir Terry Wogan OBE
To view the notes, please select a meeting from the list below:
Summary of Congenital Hyperinsulinism Parents Seminar: Held on 22nd May 2007
by Carol Johnston
This meeting was very enjoyable, with a lot of scientific content, reflecting the greater knowledge that is now known about CHI. The talks are summarized below.
Julia Killengray
Julia made apologies for Adrienne Burton, who could not attend due to a bad back. The CHI Christmas party was announced, well in advance (!), and is on the Sat. 1st December. We have been informed that this year Terry Wogan should be able to attend! Thanks were given to Clare Gilbert for organizing the meeting, Roche for providing the lunch and to all fundraisers who have raised an amazing £50,000, since the start of the fund. Some of this money has gone to employ Khalid's research assistant for 1yr and 3months (see below) but the money is now running out, so carry on fundraising!
Dr Khalid Hussain
Khalid stated that his aim is to provide a world class care centre for CHI at GOSH and to decrease time spent in hospital, which has already been achieved with the aid of PET (Positron Emission Tomograph) scans. Khalid has obtained a Wellcome trust grant to fund a clinical research fellow (Dr Ritika Kapoor) for 3 years.
Khalid gave a simplified overview of hyperinsulinism, what is normal and what can go wrong in hyperinsulinism patients. In about 50% of CHI patients the defects in certain genes have been identified. These can be due to defects in the KATP channel of cells in the islets of Langerhans (cells present in the pancreas).
Under normal conditions glucose enters the cell and is metabolized by mitochondria in the cell to generate energy (ATP), which closes the KATP channel, subsequently resulting in opening of a calcium channel. The calcium enters, triggering insulin to be released out of the cell, which in turn decreases glucose.
In some CHI patients the KATP channel is dysfunctional, due to genetic defects, such that the channel cannot open to switch off insulin production. Diazoxide, one of the drugs use to treat CHI patients acts by opening the KATP channel. Nfedipine is used in patients unresponsive to diazoxide and acts by blocking the calcium channel, although not all patients respond.
There are CHI patients with a diffuse form of CHI where most of the pancreas is affected; some have a focal form where a small (2-10mm) part of the pancreas is affected and some patients have rare/atypical forms of CHI which are not diffuse or focal. Due to the heterogeneous nature of this disease it is crucial to perform research to find out more about how the different forms occur.
Dr Chela James is Khalid's postdoctoral research assistant, who is focusing on understanding CHI using mice models. Three different genes have been knocked out in mice.
Dr Ritika Kapoor
Dr Kapoor is Khalid's Wellcome trust clinical research fellow. She is interested in defining the phenotype (characteristic appearance) and genotype (genetic makeup) correlations in CHI children. In 60% of patients the genetic mechanism is not understood. She is interested in taking blood from CHI patients, parents and possibly siblings to look at known and new genes to see if there is any correlation. Please arrange to see her if you are coming in to GOSH.
Dr Virpi Smith
Dr Smith looks at the histology of CHI patients. The focal and diffuse forms can be identified using staining of biopsies and looking at the cells under the microscope. Diffuse patients have large nuclei in the islets and the focal lesions have nodules and ducts. Whereas previously, biopsies used to be taken routinely, now patients have a PET scan first.
Dr Simon Eaton
Dr Eaton is a biochemist working for Prof. Pierro. As well as problems with the KATP channel, there can be other defects in the glucose to insulin pathway. Most of the problems are 'gain of function' mutations which are pretty rare. There can be problems with the actual glucose uptake, the mitochondrial function, the exit of insulin from the cell and calcium uptake. He is interested in identifying such detects in atypical CHI patients.
Clare Gilbert
Clare presented on behalf of Ginnette Finn, who has a crucial role in organizing the PET scans for CHI patients. The radioactive isotope used for the PET scans, 18F-DOPA is not made in this country and since it only has a short half-life, the scans need to be performed near to where the isotope is made; currently this is only in Berlin and Copenhagen.
The scan trips are funded by NSCAG (National Strategic Commission Advisory Group), which funds the transport and accommodation for one child and one parent. The transport is organized by the CATs team (Children’s acute transport services, see below).
Jessica Jackson
Jessica is an assistant psychologist interested in the neuropsychological functioning in CHI children. Hypoglycaemia can have damaging effects on brain development due to the lack of glucose. So far there have been very few studies looking at the effect of HI on social functioning, memory, language and attention. She will be performing a pilot study on children age 3-12. Hopefully, the results could provide recommendations for schools explaining the wider range of symptoms of children with HI.
The CATs Team
Dr Lutman (consultant) and Eithne Polke (coordinator) are the experienced CATs team involved in transferring patients from local hospitals to specialist centres. They can transport via scheduled flight or air ambulance depending on the status of the patient. See their web site www.cats.nhs.uk. They have been employed by NSCAG to transport CHI patients for their PET scans.
Dr Klaus Mohnike
Dr Mohnike, who presented instead of Dr Blankenstein, is involved in the PET scans for CHI children. The PET can be combined with a CT scan to obtain combined functional and anatomical data. The scans can detect 100,000 to 1 million cells (1mm of tissue is equivalent to 1 million cells).
L-DOPA is a neurotransmitter which gets converted to dopamine in the islets by dopamine decarboxylase enzyme. If the islets have increased activity, as in CHI, more isotope is taken up.
Prof. Pierro
Prof. Pierro, has pioneered the technique of laproscopic near total pancreatectomy for diffuse CHI. If a diffuse form of CHI has been diagnosed by PET scan, near total pancreatectomy can be performed. A near total is preferred to total pancreatectomy to preferably obtain low level hypoglycaemia, as opposed to diabetes.
Out of 10 patients who had a larproscopic procedure, 4 had to be converted to open due to bleeding difficulties, of the 6 that were performed laproscopically, 3 ended up with normal pancreatic function and 3 required enzyme therapy.
Hyperinsulinism Support Group Meeting: Tuesday 20th September 2005
By Carol Johnston
This was a very enjoyable meeting, especially for me being both a scientist and a parent of a child with CHI (Congenital Hyperinsulinism). As well as learning a lot about CHI, this was a great opportunity to meet other parents of children with CHI and to compare experiences. After first coming to Great Ormond Street two years ago, I had never done before!
Dr Khalid Hussain, who is tireless in his campaign for knowledge and willingness to implement new treatment for patients with CHI, gave a very comprehensive background to the mechanism of glucose metabolism and what can go wrong in CHI. He strongly believes that radical pancreatectomy can no-longer be justified and, in order to prevent this, everything should be done to determine which form of CHI a patient has.
One way towards this goal is to use PET/CT, Positron Emission Tomography in combination with Computerized tomography, which according to Dr John Hall of Guilford Diagnostic Imaging, is state of the art and gives us "Black blobs with anatomy". A radioactive dye (18F labeled dopamine), which is taken up by the pancreas can be used to determine whether a patient has diffuse or focal CHI. The problem with this technique is that it is expensive and there have been problems in obtaining sufficient dye. Dr John Hall and Dr Khalid Hussain are working on overcoming these problems.
Khalid also mentioned that he had received money from the government for the National Specialist Commissioning Advisory Group (NSCAG). There will be a centre for HI at GOSH and Manchester.
Professor Agostino Pierro talked about a new surgical approach to HI. He is the first in the world to pioneer a keyhole surgery technique to remove a biopsy of the pancreas in order to distinguish between diffuse and focal CHI. The technique involves putting a camera through the belly button, making 3 small incisions and using forceps to remove the biopsy. It is hoped that the use of this technique will reduce the likely hood of near total pancreatectomies, which often result in a diabetic state.
Clare Gilbert was introduced as the new Clinical Nurse Specialist (CNS), who will take over from Nicki Mumford in October. Clare is very experienced (21 years nursing experience) and is very enthusiastic about her new role. Among other things, she hopes to be an innovator for change, reduce hospital admission times, educate local hospitals and develop care packages for transitions to nursery and school.
Julia Killengray updated us on fundraising, which has generated an impressive £20,700. The money has gone towards maintaining the website, purchase of merchandise and purchase of a resuscitation kit, which was vital for the PET scanning to continue. Obviously a lot more is needed for any practical research to be performed. Julia is also making enquiries as to feasibility of obtaining guaranteed places in the London Marathon, if not in 2006 but in 2007 (better get training now!).
Adrienne Burton gave a very enlightening talk on her experiences of getting a full time carer for her daughter to attend mainstream school. It made me aware how much we have to be advocates for our children and speak out for what we want. Adrienne kindly offered to help others in explaining CHI to head teachers.
UK PHHI Support Group Meeting: Wednesday 15th January 2003
By Julia Killengray
This was the second support group meeting held. The first one was held on Thursday 27th September 2001. The second meeting was in the conference room at Great Ormond Street Hospital (GOSH).
The meeting was arranged by Sonia, Rosie (nurses at GOSH) and me (Julia Killengray). It was great to see more than double the amount of parents present than we had last year. They came from far and wide, there was Margaret and Melissa from Australia, Gabrielle from Ireland and Elaine from Scotland who had both flown over especially to attend the meeting. We met Camilla and Bridget who are both grandparents to children with PHHI and Eve, a teenager who was born with PHHI and our oldest member with PHHI, Roy. We also met parents, Adrienne, Val, Graham, Sara, Gerry, Darren and Sarah; not forgetting the children we met, Jessica, Donovan, Isla, Ellie and Tate.
The meeting was opened by Dr Khalid Hussain, who gave a talk on 'An Overview of PHHI'. The topics he covered were:
Khalid informed us about a new imaging technique to localise the focal lesion. Finnish researchers discovered by accident the use of PET SCAN for HI, usually used for cancer patients, and so Khalid hopes GOSH will be able to do this very soon. This will be a fantastic step forward as it is a non-invasive method of determining whether the condition is focal or diffuse and if focal, the exact location.
At 11.00am, we stopped for coffee and then Dr Keith Lindley continued the meeting with a talk on 'The Gut in HI'. The topics he covered were:
On this subject we learned that not only do our children have a defective pancreas but HI can also affect the stomach in some children. The problem is as follows: in a normal person as the food goes through, the gut signals to the stomach that food is arriving and the stomach becomes larger in anticipation of the foods arrival. However in some HI children, the stomach does not receive the signal so when the food arrives the stomach feels full after only a few mouthfuls. Gabrielle asked him if there could be a physiological reason for the gagging reflex and he said that it was probably a learned response as a result of this full feeling.
Since the meeting I have asked Keith Lindley if he has written a paper on the subject and he has informed me that a manuscript is nearing completion.
At 12.45pm we stopped for a light lunch and during it we had time to talk to each other.
In the afternoon we were hoping to have an open surgery with a speech therapist and a dietician, but unfortunately they were unable to attend. Instead Sonia and Rosie held an open surgery, answered questions and from this a discussion arose between ourselves. The meeting ended at approximately 3.30pm.
The meeting went extremely well and I hope everyone gained a better insight of this condition. It was great meeting everyone; it was so nice to meet people in a similar situation as oneself, who knew exactly what one was going through. I hope to meet with you all next year.
Finally, I would like to say an ENORMOUS thank you to Dr Khalid Hussain and Dr Keith Lindley for giving us of their time and answering our many questions (we parents are a force to be reckoned with). A MASSIVE thank you to Sonia and Rosie for arranging the meeting. A HUGE thank you to Pat and Kate for looking after our children and last but not least a HUMONGOUS thank you to everyone who attended. Without you, this meeting could never have happened.
Best wishes to you all.
Thursday 27th September 2001 Support Group Meeting
By Adrienne Burton
This support group meeting was the first one for the PHHI families. Although small it was a complete success. At least for me it was and to the other parents I have spoken to.
My name is Adrienne, I am the mother of Jessica aged 20 months, who has PHHI. Like many of the parents I did not know many people whose child had this condition. The meeting provided a room full of these such parents all with questions and eager to learn, like myself.
We met in a conference room at Great Ormond Street Hospital and many of the people attending had travelled a very long way, one even from Hull.
Professor Aynsley-Green began the meeting. He spoke for an hour and a half about the PHHI illness itself, the different types of PHHI, the medications used, PVS (portal venous sampling) and the surgery. I thought I knew a lot already but the Prof. taught me much more. He spoke about Frederick Still ward and the trained nurses and the stress of the condition on the parents. He touched on the subject of genes and genetic inheritance, a topic that really interests me and want to know even more about. The Prof. also briefly talked about the research being done. Throughout the whole talk slides were shown which really assisted in explaining things more. Then it was our turn to ask questions.
The next speaker was Khalid Hussain, the Prof's right hand man. Khalid covered more about the research and genes and cells in a lot more detail. It was really interesting and once again I find myself hungry for more knowledge. The work the whole research team is doing in this country and worldwide is incredible. Questions were asked throughout this session, there was an awful lot of information to take in.
We then broke for lunch and had a chance to meet and chat to the parents. I met up with parents whom we had shared the time in Great Ormond Street with. It was really good to see them again and find out how their children were and especially how they were coping with it all.
After lunch there was an 'open surgery'. We could ask specific questions about the things we were having trouble with or just chat. The people we could ask were: Nikki, a senior staff nurse from Frederick Still ward, a pharmacist, a endocrine nurse and finally Julia and Darren Killengray, parents themselves to two children with PHHI.
The whole day was very informal and very informative and I would not have missed it. I am looking forward to next year's meeting very much and hopefully more people will be able to make it.
For those of us who had to take our children, two nurses from Frederick Still ward volunteered to look after them for the morning which was lovely and the children enjoyed it.
Finally, it leaves me to say a huge thank you to Julia and Darren Killengray who without them this support group would not exist. So thank you for all the work you put into it, I personally think it is worth it.
Adrienne Burton
