Skip to content

UK Patient Meeting. London. 17th August 2019.

A meeting for Kallmann syndrome / CHH patients is due to be held at the Royal Free Hospital, London on Sat 17th August 2019 from 11:00 am to 4:30 pm

The meeting will be a chance for patients to meet fellow patients and to talk to KS medical experts.

 

The meeting is a mixture of medical information and social event.

Prof. Nelly Pitteloud from CHUV in Switzerland, a world-renowned KS expert will be in attendance along with at least two other KS experts from the UK.

The meeting will consist of a couple short presentations on the diagnosis and treatment of Kallmann syndrome plus a chance to ask the medical experts any questions about the condition. There will be plenty of opportunities to talk to fellow patients during the meeting.

Advertisements

Frequently asked questions with Dr Andrew Dwyer, Boston College, USA.

 

 

 

 

 

 

 

In October 2017 I met with Dr Andrew Dwyer of Boston College, USA to talk to him about Kallmann syndrome / CHH. Dr Dwyer is a senior nurse practitioner and clinical researcher who has worked in KS specialist centres in Boston and Lausanne, Switzerland and had published many papers on Kallmann syndrome.

We recorded a series of three videos where I asked him some of the most frequently asked questions I get when talking to fellow patients.

We are planning another patient meeting in Boston in October 2019 where we hope to produce some more YouTube videos.

Video 1.

Video 2.

Video 3.

There appears to be a delay in the audio starting on the videos, but it starts within 10 seconds, when you can restart the video from the start if required.

UK Guardian article on Kallmann syndrome patient.

The Guardian newspaper in the UK posted an interesting article about an American KS patient who had just undergone fertility treatment.

Guardian article.

It is always good to have the condition mentioned in a national newspaper. I am always keen to try to raise awareness of this rare condition.

Early diagnosis and treatment can help a lot with both male and female patients but there is a lot more to having Kallmann syndrome that can be mentioned in just one article.

The psychological issues of missing out on both puberty and adolescence can be severe for some patients. The term “late bloomer” tends to suggest that normal puberty eventually happens. This is certainly not the case and treatment can only alleviate some of the symptoms.

It is an invisible condition to most and not an easy one to talk about since it involves intimate physical development and infertility.

Basic hormone treatment is not available to every patient let alone the fertility treatments which are expensive and often difficult to obtain in any country.

Imgur post for Rare Disease Day 2019.

Rare Disease Day 2019. Kallmann syndrome – absent or impaired puberty. 

As part of Rare Disease Day 2019 I try to raise the awareness of Kallmann syndrome amongst the many other rare conditions out there.

Kallmann syndrome – missing out on puberty.

Kallmann syndrome  – missing out on puberty. 

I occasionally make posts on Imgur and Reddit to help to raise the awareness of Kallmann syndrome / CHH. I do not mind talking about my condition with anybody who wants to know more.

My aim is to help younger patients get an earlier diagnosis and treatment. I was labelled as a “late bloomer” for far too long as the doctors I saw were not aware of the condition and I was told just to wait and see. Early diagnosis and especailly early treatment can help patients with KS.

 

Initial KS results.

This is a copy of the blood tests results I had when first diagnosed when I was 24.

My first job was working in the haematology department of the Royal Free Hospital in London. It just so happened, by coincidence or fate, that two specialists in Kallmann syndrome worked at the hospital and I was able to get the correct diagnosis at the very hospital where I worked. It did mean that my blood tests were being tested by my colleagues working the lab next door to mine.

Update. Jan 2019.

I am planning to take part in a clinical trial in London, UK. They are looking into the effect the hormone Kisspeptin has on patients with Kallmann syndrome / CHH. They are keen to hear from any patient in the UK who would like to take part and they will pay for your study visit and travel and accommodation to London. More details:

Kisspeptin clinical trial.

I am currently not on testosterone treatment. Instead, I take hCG (human chorionic gonadotropin). This is a hormone normally only produced by females but has the same activity as luteinising hormone, one of the two pituitary hormones missing due to Kallmann syndrome / CHH. The hCG allows for the natural production of testosterone, rather than having to inject it. With no treatment my testosterone level is barely above 0.5 nmol/l but while on hCG I can get an almost normal testosterone level.

I used to take a drug called Pregnyl but unfortunately, this has ceased production. I am forced to take a version of hCG called Ovitrelle which is designed for female use but can be used in males in lower doses. It does have the advantage in coming in a pre-filled syringe pen form which makes injecting easier.

IMG_0456

Ovitrelle pen. hCG. human chorionic gonadotropin

This week I finally had the chance to meet up with a UK friend who I have talked to online for over 7 years but had never had the chance to meet in person. I always enjoy the chance of meeting up with KS friends in person. It is such a rare condition often patients do not get a chance to meet up and talk with another person who understands what it is like to have the condition. I think it can be a very useful experience to talk with fellow patients when you can ask questions or talk about things that would be very difficult to do with other friends or family. We have groups on Facebook and Rare Connect where you can contact fellow patients.

Rare Disease Day – 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.

 

 

%d bloggers like this: