Mindcast Podcast on Kallmann syndrome.

Jason Grant Russell is a young Kallmann syndrome patient from Australia.

He recently had an interview recorded for a podcast where he talked about his early struggles with the condition and how those experiences have motivated him in his professional work.

Jason is open about his Kallmann syndrome and enjoys the chance to talk to fellow patients. His work not just as a physical trainer but as a motivational and development coach can help fellow patients in their own development.

 

Patient information sheets - translations into 21 different languages now available.

Produced by Dr Andrew Dwyer of CHUV, Switzerland in conjunction with Kallmann syndrome specialists across Europe these information sheets provide a concise introduction into Kallmann syndrome and CHH. Patient advocates have also been involved in the editing process to help ensure the information is relevant to newly diagnosed patients.

Once the English version had been finalised work was started on producing translation into various different languages. The translations were carried out by KS experts in that particular country. Patients can contact the person who translated the version in their own country if they want to speak to a KS expert in their country and who can speak their language. 

The translated versions can be found by following this link to my WordPress blog site.

"Ask Me Anything" on Reddit.

3 years ago I posted a "Ask me anything" article on Reddit about Kallmann syndrome.

I thought it was time to post a new article to try to raise awareness of the condition. I am always keen to talk to fellow patients with this condition. 

These are my hospital test results soon after I was diagnosed. The Perganol and Profasi mentioned were the medications I was due to start as part of a clinical trial soon after being diagnosed.

    

 

 

 

 

The test results immediately before starting the clinical trial. The testosterone level is even lower than before. The FSH and LH levels were also very low which is a classic pattern in Kallmann syndrome or congenital hypogonadotropic hypogonadism.

Delayed puberty clinical trials at NIH, Maryland, USA.

There is a specialist pubertal development clinic run at the National Institutes for Health in Bethesda, Maryland, USA.

https://clinicaltrials.gov/ct2/show/NCT00494169

They have an on-going research programme designed for KS / CHH patients. It is a 3 or 4 day clinic where they run a series of diagnostic tests and give information on treatment. They work closely with the clinic at MGH in Boston. They will also undertake the genetic testing as well. They mainly see younger patients who are in the process of being diagnosed but are happy to hear from any patient. 

The clinic is free to attend and they normally can help with travel costs from within the US. They have seen patients from overseas as well. I know at least one person from the UK who visited there last year. It can be a good way of getting more information about the condition and talk to experience KS clinicians. 

They can give advice on fertility and hormonal replacement treatments and hopefully be able to put you in contact with KS specialists in your area.

The clinic is run by Dr Angela Delaney.

To contact them for more information e-mail Alessandro Albano on:

alessandro.albano@nih.gov

How is not going through puberty linked to not having a sense of smell ?

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.