Dr Andrew Dwyer is a specialist clinical nurse and research specialist in Kallmann syndrome / CHH based at the CHUV (Lausanne University Hospital in Switzerland). Part of his work was heading a consortium of KS / CHH clinicians and researchers throughout Europe. This has lead to a number of different research projects being funded.
One such project was the development of a comprehensive set of consensus guidelines for the treatment and diagnosis of Kallmann syndrome and CHH which is a useful source of information for both patients and clinicians alike.
Another project was the development of patient information sheets that gave a concise but comprehensive overview of the condition so new patients could learn more about their condition and help to explain the condition to other people.
What makes these information sheets more special is that they were created with input from clinicians, researchers and patient advocates which hopefully has enabled them to contain the information that is relevant to patients while still covering as much of the relevant information as possible.
Once the English language version of the information had been finalised the next step was to produce translations into different languages. The translations were carried out by Kallmann syndrome experts within that country. The name of the person translating each version is listed so patients can contact a Kallmann syndrome expert in their own country.
These information sheets are freely available for anybody to share. They will also be available soon on the GnRH deficiency website. It is hoped that this will be the start of a series of patient led information sources that can help patients access information and interact with other patients and ask experienced Kallmann syndrome clinical specialists questions.
Produced in conjunction with KS clinicians and researchers from Europe and edited by Dr Andrew Dwyer of CHUV, University Hospital in Lausanne, Switzerland.
A brief but comprehensive overview of KS and CHH (or GnRH deficiency as both conditions could be called). These can provide information for patients themselves and to help to explain the condition to family and friends.
If patients wish to know more information about their condition or want to pass on information to their own doctors a set of consensus guidelines on treatment and diagnosis have been published:
On line clinical study from National Institutes for Health, Maryland, USA.
There is a specialist clinic at the NIH in Maryland that investigates disorders of puberty. They are always interested to hear from Kallmann syndrome and CHH patients from anywhere in the world. Sometimes they will invite patients to their clinic to participate in clinical studies.
They also running an on line clinical study by means of telephone conversations and an on line questionnaire. They wish to learn more about the experiences of living with Kallmann syndrome / CHH and how the disorder affects patients’ lives.
They will pay compensation for your time, the study is open to anybody, not just those in the US. This clinic is a good source of information for people with Kallmann syndrome and CHH.
I was diagnosed at the age of 23 with Kallmann syndrome. Up to that point I was always dismissed as a “late starter” or “late bloomer” when I asked why I has not started puberty yet.
When I saw the endocrinologist at the Royal Free Hospital in London UK, one of the first questions he asked was “could I smell”. He was the first doctor ever to ask me this question. I knew I could not smell but can not remember ever thinking about it much and never for a moment linking it to my lack of puberty. In all my previous appointments with doctors I never bothered to mention it either.
So what does link not being able to smell and not starting puberty ?
It is a fascinating story I think.
It all starts very early in the development of the foetus, between the 10th and 14th week of foetal development. The key is the movement of nerve cells or neurones. As the foetal brain develops there is a lot of movement as cells and tissues come together to form organs.
The sense of the smell comes from olfactory nerve cells and they have to form a structure called the olfactory bulb in order to work correctly and produce the sense of smell. Puberty and reproductive function relies on nerve cells that release a hormone called GnRH which should be located within the hypothalamus deep within the brain.
It so happens that during early development the olfactory nerves and GnRH releasing neurones originate in the same place and have to travel along the same pathway to their final destination; the olfactory bulb and the hypothalamus respectively.
In Kallmann syndrome the movement of these neurones is blocked, either because the pathway they are supposed to move through has not formed correctly or the proteins that are supposed to help them move are missing.
This means the olfactory nerves and GnRH releasing neurones are left stranded in their starting position. The olfactory nerves can not form the olfactory bulb so there is no sense of smell and the GnRH releasing neurones do no reach the hypothalamus so puberty and the reproductive cycle can not start.
The distances involved in this migration are so small, less than the width of a pin head, but the end result can be quite dramatic.
I do not hide the fact I have a condition called Kallmann syndrome and am always keen to talk about it to anybody who is interested. It can be an embarrassing condition to talk about but I feel that I am in the position that I can talk about it freely and openly.
My major concern is the early diagnosis and treatment of the condition. I was late diagnosed at 23 which has affected my life in certain ways. However early diagnosis and treatment can make so much difference with this disorder. Unlike other rare conditions there is no pain associated with the condition and no loss of life expectancy. The treatment for the condition is fairly straightforward, apart from the fertility treatments which do raise problems.
Those patients I talk to who seem to handle the condition best are those who were diagnosed early and were treated early. More importantly they received information on the condition. I can not prove this through a scientific study but only through personal experience and from talking and meeting with many other fellow patients. The earlier the diagnosis and treatment is, the easier it is to cope with the condition. The isolation of thinking you are the only person not going through puberty and being labelled as a “late starter” or “late bloomer” well into in the late teenage years and beyond can be a difficult thing to overcome.
This has led me to be very vocal about the condition and to mention it in as many social media outlets and websites as I can.
I enjoy the interaction I have with fellow patients and always enjoy meeting and talking with them.
My overall aim is to get the condition mentioned in some form of mainstream media or social network platform. The condition is most certainly under diagnosed (especially in women) and I want to try to help people get an early diagnosis and treatment.
I have created a Facebook information page:
Thank you for reading.
I am trying to create an updated version of an information website for Kallmann syndrome and congenital hypogonadotropic hypogonadism to replace the http://www.kallmanns.org website.
On this occasion I am calling the website “Delayed puberty” in the hope people can search for it even if they have never heard the terms Kallmann syndrome or CHH before.
It is a work in progress and I am updating it with information, You Tube videos and medical papers when I can.
This is the link to the new site:
Any comments, positive or negative or suggestions for content would be welcome.
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.