Rare Disease UK. Patient story.

One of younger KS patients from the UK has had his Kallmann syndrome story published on the Rare Disease Website:

Me:Just not quite yet

I think it is useful when patients are able to talk about their rare condition to help raise awareness to help other patients get a diagnosis. By its very nature, Kallmann syndrome can be a difficult condition to talk about openly.

I have always enjoyed the chance to talk about my condition to others and I think it helps me in my own life.



Clinical trial for Kallmann syndrome / CHH patients in UK.

A clinical trial in London for Kisspeptin test.

Kallman’s syndrome / Congenital Hypogonadotropic Hypogonadism (CHH) is a condition that is frequently due to a problem with the function of an important part of the brain called the ‘hypothalamus'.

Kisspeptin is a naturally occurring hormone (already present in the body) that was discovered in 2003 and is known to be able to be able to safely stimulate the hypothalamus.

Kisspeptin has been given at our centre in Imperial College London to several hundred men and women and has not been associated with any side effects to date.

We are looking to better understand how useful a 'kisspeptin test’ could be to identify patients with CHH and whether their ability to respond to kisspeptin could provide useful information about the current function of their hypothalamus (for example, patients with CHH can sometimes spontaneously normalise their hypothalamic function, which could be identified through a kisspeptin test).

The current research study would involve 2 visits (each lasting up to 7hrs in total starting in the morning) occurring at least one week apart at Charing Cross Hospital in Hammersmith, London.

Following an explanation of the study and a review of clinical details and examination, potential participants can indicate their willingness to take part in the research by signing a research consent form.

All research ethical practice such as confidentiality will be respected throughout.

One visit will be to have a 'kisspeptin test’ and the other will be to have the currently used test called a ‘GnRH test’.

At each visit, a cannula (plastic tube) would be placed in a vein in the arm to allow us to give the GnRH or kisspeptin hormones and then to take blood without requiring any further needles.

We would not expect participants to encounter any adverse effects during or after either visit in either the short or long term.

A blood sample will also be taken to screen for genes involved in the function of the hypothalamus.

A formal smelling test will be performed to record whether the sense of smell is intact.

Participants can eat and drink as usual and are encouraged to bring food/entertainment (wifi will be made available).

Participants will be reimbursed £100 for each visit for their time in addition to travel expenses.

If travelling from outside of London, we will also arrange accommodation if needed.

If you would like to learn more about this research, you can email us at

kisspeptin@imperial.ac.uk 

and leave your contact number and we will be pleased to get in touch with more information.

Patient meeting in Boston, USA. 17th November 2018.

The meeting will be in the same format as normal patient meetings. There will be a mixture of medical information and a chance to meet and talk to fellow patients. Normally we have a question and answer sessions and a group discussion. We tend not to have a formal agenda as these meetings tend to flow naturally with the questions people ask. 

Dr Andrew Dwyer will host the meeting. He is currently working at Boston College, having previously worked at Massachusetts General Hospital in Boston and in Switzerland. We are hoping a couple of the specialists from MGH will be able to attend as well.

Normally we have between 15 to 20 people there of various ages. After the meeting, we normally have a dinner at a local restaurant somewhere. 

Boston College is located in Newton, in the suburbs of Boston. It has its own station on the end of a Metro line, the journey normally takes about an hour from Logan airport or downtown Boston.

The meeting with be from 11 am to 4 pm.

Further details from:

kallmannsyndrome@gmail.com

On line surveys for Kallmann syndrome / CHH patients.

Using "Survey Monkey" I have set up 4 separate surveys.

Survey 1. Initial survey

Survey 2. Symptoms and diagnosis

Survey 3. Body image, sex and sexuality

Survey 4. Depression and emotional issues.

The surveys will be open for another month.

Links below.

 

https://www.surveymonkey.co.uk/r/D5S2FS8

https://www.surveymonkey.co.uk/r/7HFNS73

https://www.surveymonkey.co.uk/r/KRL8MDF

https://www.surveymonkey.co.uk/r/52G32RP

 

Thank you to those who have already completed them. Once completed, the results will be compiled together and I will publish them here and in the Facebook groups. The aim is to provide an overall picture of the experiences of fellow patients and to see the similarities and differences.

The results are totally anonymous, there is absolutely no record of where the results have come from. It is purely a question of collecting numbers. I hope fellow patients can gain some insight into their own condition by seeing the responses of other patients.