This is the link to the webinar that Andrew Dwyer and myself took part in recently. Andrew was talking about how the patient information sheets were designed and the plans for the future for the availability of patient information on line.
There is a link to a short survey after reading the information sheets to help Andrew develop ideas for other future projects. It is hoped to develop a range of web based resources for both patients and clinicians to access for information on diagnosis, genetic testing, psychological issues and patient advocate support.
The sheets are in English at the moment but have been translated into 17 different languages and will be posted on line in November for anybody to access at anytime. The sheets that are in different languages will have the contact details of the KS medical expert that approved the translation and who can be contacted for further information if required.
It would be useful to get as many responses to the survey as possible to help assess how useful these information sheets are and to find ways of improving them in future.
These patient information sheets have been written by after discussions with both patients and medical experts in order to try to provide a useful tool for patients.
Dr Angela Delaney is a KS specialist doctor working at the National Institutes of Health in Maryland USA. She has a special interest in disorders of puberty development. She works closely with the reproductive endocrinology team at Massachusetts General Hospital in Boston.
As part of on an going study on the psychological aspects of having KS or CHH her team have produced a survey for patients to complete. The survey will be done over the phone initially and will involve a on line questionnaire. The team will offer compensation for the time taken to complete the study.
Click on the link below for more information:
Daniel is a KS patient from Australia. Rebecca is a KS patient from America.
They met online through a KS patient group and continued to communicate regularly, quickly developing a strong bond which grew into a relationship.
Earlier this year they got married in America.
It might be the first ever wedding between KS patients.
Andrew Dwyer is a clinical researcher and specialist clinical nurse treating KS / CHH patients based at CHUV hospital in Lausanne, Switzerland.
As part of the European group working on GnRH deficiency disorders he is working on developing methods to help patients gain access to information on Kallmann syndrome / CHH. The final aim is to help patients gain access to expert clinicians and fellow patients in order to help raise awareness of the condition and ensure information on the diagnosis and treatment of KS / CHH is passed on to patients.
Attached is a link to recently produced patient information sheets and a short survey which will help in the production of more patient information.
I think patients will find these information sheets a useful source of information about their condition and a way of introducing their condition to other people who may be interested.
We are holding a patient meeting for KS / CHH patients at the Royal Free Hospital in London on the 6th August 2016.
Attending the meeting will be two experienced KS clinicians and researchers from the KS clinic at CHUV, Switzerland, Prof Nelly Pitteloud and Dr Andrew Dwyer.
It will be a good chance to meet fellow patients in a relaxed, friendly environment and to ask experienced KS experts any questions you may have. Since KS / CHH are such rare conditions many patients do not get the chance to meet another person with the same condition. It can be a very beneficial experience to be able to meet and talk to fellow patients of different ages.
The meeting is to be held in the seminar room of the Medical School Library on the ground floor of the Royal Free Hospital, Hampstead in North London. The meeting will start at 11am and last until about 5pm.
Letter from Genetic Alliance UK regarding genetic screening for couples with Kallmann syndrome undergoing fertility treatment.
We are doing a piece of work relevant to you, and hoped you might like to be involved.
The Human Fertilisation and Embryology Authority (HFEA) has received an application to licence preimplantation genetic diagnosis (PGD) for Kallmann syndrome. This means that a couple in the UK with a family history of the condition have applied to use PGD to conceive achild who would be free from the disease. You can find out more about the reproductive technique, preimplantation genetic diagnosis, here, and the HFEA call for information on this condition here.
When the HFEA committee makes a decision on whether to licence PGD they make this decision based on whether they think that the condition is ‘sufficiently serious’. We provide statements to the HFEA detailing the effects on an individual from the perspective of patients (rather than the clinical aspects of a condition). To fairly represent the ways that some patients could be affected by the condition, we outline the worst case scenario for those affected.
We hope to provide some patient voice on the issue, and to aid us in this work have developed a survey which we would be really grateful if you could fill in. If you feel it is appropriate we would also encourage you to disseminate the survey to patients with the condition (and their families and carers). We feel that it is really important for patients to have a voice in the process of licensing for this reproductive technique, and your input would be invaluable in this.
The answers from the survey will be used to develop a statement detailing the way that the condition affects those who have the condition from a social and psychosocial point of view. This would then be submitted as evidence to be considered by the licensing committee at the HFEA. We would, of course, be happy to submit this jointly with your organisation.