A meeting for patients with Kallmann syndrome or HH is planned for
Saturday 12th November at the the Royal Free Hospital in London.
Guest speakers will be Prof. Pierre Bouloux from London and Prof. Nelly Pitteloud from Switzerland.
It will be a fairly informal meeting with a few medical presentations, question & answer sessions and plenty of time to talk to fellow patients.
More details to follow, but to register your interest please e-mail:
neilsmith38@hotmail.com
Tuesday, August 09, 2011
Being able to talk to other people with Kallmann syndrome and hypogonadotrophic hypogonadism makes a lot of difference to how a person copes with having the condition.
Since the condition is so rare and it involves an area which is difficult to talk about people with KS can feel very isolated and feel like they are the only person with the condition.
The ability to contact, talk to and meet other people with the condition is almost always a very worthwhile exercise.
There are 2 groups on Facebook where you can contact other people.
One is called "Kallmann's syndromers". It is an open group where you can post comments and ask questions. There is also a chat option to talk to other members. Other people on your Facebook profile will see you are a member of this group.
http://www.facebook.com/#!/groups/114162694465
If you wish to remain totally anonymous there is an also a private, "secret" KS group on Facebook which is only visible to members and people can post and chat in the knowledge that only people in the group can see the posts in the groups. Nobody on your profile will see that you are a member of the group. You can gain entry to the group by asking one of the current members to let you in, or send me an e-mail.
There is also a contact group on Yahoo containing some members very knowledgeable on KS.
http://health.groups.yahoo.com/group/kallmanns-syndrome
I am always happy to hear from new people and will try to pass on contact details if other people want to get in touch.
neilsmith38@hotmail.com
Since the condition is so rare and it involves an area which is difficult to talk about people with KS can feel very isolated and feel like they are the only person with the condition.
The ability to contact, talk to and meet other people with the condition is almost always a very worthwhile exercise.
There are 2 groups on Facebook where you can contact other people.
One is called "Kallmann's syndromers". It is an open group where you can post comments and ask questions. There is also a chat option to talk to other members. Other people on your Facebook profile will see you are a member of this group.
http://www.facebook.com/#!/groups/114162694465
If you wish to remain totally anonymous there is an also a private, "secret" KS group on Facebook which is only visible to members and people can post and chat in the knowledge that only people in the group can see the posts in the groups. Nobody on your profile will see that you are a member of the group. You can gain entry to the group by asking one of the current members to let you in, or send me an e-mail.
There is also a contact group on Yahoo containing some members very knowledgeable on KS.
http://health.groups.yahoo.com/group/kallmanns-syndrome
I am always happy to hear from new people and will try to pass on contact details if other people want to get in touch.
neilsmith38@hotmail.com
Tuesday, May 10, 2011
Kallmann syndrome and other forms of hypogonadotrophic hypogonadism are rare conditions. It is some times very difficult to find primary physicians or GP's who have even heard of the condition.
Sometimes even when we are treated by consultants in hospitals we might be the only patient with KS or HH that they are seeing at that time.
It is sometimes difficult to find reliable information on the condition. Partly this is due to the fact that there is so much still to learn about the genetic causes of KS / HH. However there is information to be gained on the current diagnosis and treatments available for KS / HH.
One area is the number of different forms of testosterone treatments available now. A lot of people I speak to seem to be unaware of the different forms of treatments that are available. Some will work better than others and will suit different people.
There are a number of good websites about where you get information and some forum groups where you can talk to other people with Kallmann syndrome. I have left some links to some below. A lot of people with KS or HH find it very helpful to be able to talk to fellow patients. The majority of people with the condition will have never met anybody else with the condition and there can be a big advantage in meeting with and talking to other people who have gone through similar situations and know how you feel.
I talk to a lot of people with Kallmann syndrome through MSN messenger or Facebook and am always happy to talk to new people or try to introduce them to other people they may wish to talk to.
My e-mail address: neilsmith38@hotmail.com
e-medicine web page on Kallmann syndrome:
http://emedicine.medscape.com/article/122824-overview
Kallmanns.org web page:
http://www.kallmanns.org
Facebook group on Kallmann syndrome:
http://www.facebook.com/topic.php?topic=22250&post=361565&uid=77192005117#!/group.php?gid=77192005117
Yahoo Forum group on Kallmann syndrome:
http://health.groups.yahoo.com/group/kallmanns-syndrome
Sometimes even when we are treated by consultants in hospitals we might be the only patient with KS or HH that they are seeing at that time.
It is sometimes difficult to find reliable information on the condition. Partly this is due to the fact that there is so much still to learn about the genetic causes of KS / HH. However there is information to be gained on the current diagnosis and treatments available for KS / HH.
One area is the number of different forms of testosterone treatments available now. A lot of people I speak to seem to be unaware of the different forms of treatments that are available. Some will work better than others and will suit different people.
There are a number of good websites about where you get information and some forum groups where you can talk to other people with Kallmann syndrome. I have left some links to some below. A lot of people with KS or HH find it very helpful to be able to talk to fellow patients. The majority of people with the condition will have never met anybody else with the condition and there can be a big advantage in meeting with and talking to other people who have gone through similar situations and know how you feel.
I talk to a lot of people with Kallmann syndrome through MSN messenger or Facebook and am always happy to talk to new people or try to introduce them to other people they may wish to talk to.
My e-mail address: neilsmith38@hotmail.com
e-medicine web page on Kallmann syndrome:
http://emedicine.medscape.com/article/122824-overview
Kallmanns.org web page:
http://www.kallmanns.org
Facebook group on Kallmann syndrome:
http://www.facebook.com/topic.php?topic=22250&post=361565&uid=77192005117#!/group.php?gid=77192005117
Yahoo Forum group on Kallmann syndrome:
http://health.groups.yahoo.com/group/kallmanns-syndrome
Thursday, April 14, 2011
A review article on Kallmann syndrome.
This may be only of interest to those people with KS or HH but this article from Clinical Endocrinology 2010; 72(6) gives a very good overview of the diagnosis & treatment of the condition.
It is authored by Prof. Pierre Bouloux at the Royal Free hospital in London, who is my specialist and one of the first doctors to diagnose me when I worked there back in the 1990's.
By the time I left university I still was not diagnosed correctly, still labelled a "late developer" which at 21 seemed more than a bit annoying. It was only by chance that my first job after university was in the blood transfusion lab at the Royal Free Hospital in London. Prof. Bouloux and his senior registrar at the time, Dr Richard Quinton (now consultant in Newcastle) were both working at the Royal Free and specialised in treating people with KS / HH.
The fact I managed to start work at the very hospital that contained the two specialists who could diagnose me correctly was certainly a strange coincidence. The first question Dr Quinton asked me was "can I smell ". Such a simple question at the time, but none of my previous specialists or GP's had ever asked it before.
It was the first time a name was put to the condition, and a couple of months later I met somebody else with the condition for the very first time. It is difficult to put into words to people who don't have the condition the sense of relief knowing that it is a recoginsed condition, it has a name you can put to it and there are other people out there with the same condition.
This may be only of interest to those people with KS or HH but this article from Clinical Endocrinology 2010; 72(6) gives a very good overview of the diagnosis & treatment of the condition.
It is authored by Prof. Pierre Bouloux at the Royal Free hospital in London, who is my specialist and one of the first doctors to diagnose me when I worked there back in the 1990's.
By the time I left university I still was not diagnosed correctly, still labelled a "late developer" which at 21 seemed more than a bit annoying. It was only by chance that my first job after university was in the blood transfusion lab at the Royal Free Hospital in London. Prof. Bouloux and his senior registrar at the time, Dr Richard Quinton (now consultant in Newcastle) were both working at the Royal Free and specialised in treating people with KS / HH.
The fact I managed to start work at the very hospital that contained the two specialists who could diagnose me correctly was certainly a strange coincidence. The first question Dr Quinton asked me was "can I smell ". Such a simple question at the time, but none of my previous specialists or GP's had ever asked it before.
It was the first time a name was put to the condition, and a couple of months later I met somebody else with the condition for the very first time. It is difficult to put into words to people who don't have the condition the sense of relief knowing that it is a recoginsed condition, it has a name you can put to it and there are other people out there with the same condition.
Monday, March 28, 2011
The following quote was posted as a Facebook status by a colleague of mine with type I diabetes:-
“Dear diabetes, since entering my life in a rather forcible manner fifteen years ago, you have since been a most unwelcome guest who out stayed their welcome the minute they arrive. Now kindly do the decent thing and fuck off out of my life. I don't want to be defined by you anymore.”
This quote struck a chord with me. I don’t have diabetes, I have another endocrine condition called Kallmann syndrome. The above quote could quite as easily be attributed to Kallmann syndrome as it can diabetes type I.
Kallmann syndrome is a rare hormonal condition in which the major symptom is the failure for the patient to enter puberty or to fully complete puberty. Untreated patients would have very poorly developed secondary sexual characteristics and will almost invariably be infertile. It is also associated with a lack of sense of smell. The root cause is the failure of the release of the gonadotrophin hormones (LH and FSH) by the pituitary gland.
======================================================
Diabetes is fairly straightforward to diagnose, even if doctors sometimes get Type I and Type II mixed up.
KS is harder to diagnose as it is normally a case of eliminating all other possibilities first. The biggest hurdle is getting a diagnosis when as a teenager you are constantly being dismissed as a “late developer”. There is no simple blood test for KS. It is not a widely known condition and diagnosis is often delayed well into late teens & early 20’s by which time the benefits of early treatment and diagnosis are lost.
Diabetes is far more intensive to treat, can be a major struggle getting blood sugar levels correct and can have serious complications, both short term and long term if you do not get the treatment right.
KS is fairly straightforward to treat in comparison; a lot of people with KS get a testosterone injection every three months and this is all they need. It gets a little more complicated if fertility is required, but compared to diabetes the treatment of KS is very simple. Testosterone, while an important hormone to have is not in the same league as insulin when it comes to its importance for day to day life.
========================================================
In both conditions you are treating the symptoms rather than the root cause. You never cure either condition; you can only hope to control its effects.
In both conditions you are often left feeling tired & lethargic, either due to fluctuating blood sugar levels or very low testosterone levels.
In both conditions you sometimes have to deal with some medical professionals who have little idea or understanding of the condition. Knowing that Type I diabetics are not the same as Type II’s and have different needs & requirements would be a good start. It is the same for people with KS as most of us are seen by doctors who have not even heard of the condition and don’t know the full range of available treatments that are available.
In both conditions you are stuck with a condition you have little control over. You can’t really escape either condition and it is only really a fellow patient who can totally understand the problems you go through.
=========================================================
Just how much each condition defines our life is a debatable point; I think it varies from person to person. I think it is impossible to live with a condition such as KS or diabetes type I and not let it affect your life. However by talking to patients with other endocrine conditions sometimes you can get a better perspective on your own condition.
In my conversations with my colleague I think we can both safely say neither of us would want to swap conditions.
“Dear diabetes, since entering my life in a rather forcible manner fifteen years ago, you have since been a most unwelcome guest who out stayed their welcome the minute they arrive. Now kindly do the decent thing and fuck off out of my life. I don't want to be defined by you anymore.”
This quote struck a chord with me. I don’t have diabetes, I have another endocrine condition called Kallmann syndrome. The above quote could quite as easily be attributed to Kallmann syndrome as it can diabetes type I.
Kallmann syndrome is a rare hormonal condition in which the major symptom is the failure for the patient to enter puberty or to fully complete puberty. Untreated patients would have very poorly developed secondary sexual characteristics and will almost invariably be infertile. It is also associated with a lack of sense of smell. The root cause is the failure of the release of the gonadotrophin hormones (LH and FSH) by the pituitary gland.
======================================================
Diabetes is fairly straightforward to diagnose, even if doctors sometimes get Type I and Type II mixed up.
KS is harder to diagnose as it is normally a case of eliminating all other possibilities first. The biggest hurdle is getting a diagnosis when as a teenager you are constantly being dismissed as a “late developer”. There is no simple blood test for KS. It is not a widely known condition and diagnosis is often delayed well into late teens & early 20’s by which time the benefits of early treatment and diagnosis are lost.
Diabetes is far more intensive to treat, can be a major struggle getting blood sugar levels correct and can have serious complications, both short term and long term if you do not get the treatment right.
KS is fairly straightforward to treat in comparison; a lot of people with KS get a testosterone injection every three months and this is all they need. It gets a little more complicated if fertility is required, but compared to diabetes the treatment of KS is very simple. Testosterone, while an important hormone to have is not in the same league as insulin when it comes to its importance for day to day life.
========================================================
In both conditions you are treating the symptoms rather than the root cause. You never cure either condition; you can only hope to control its effects.
In both conditions you are often left feeling tired & lethargic, either due to fluctuating blood sugar levels or very low testosterone levels.
In both conditions you sometimes have to deal with some medical professionals who have little idea or understanding of the condition. Knowing that Type I diabetics are not the same as Type II’s and have different needs & requirements would be a good start. It is the same for people with KS as most of us are seen by doctors who have not even heard of the condition and don’t know the full range of available treatments that are available.
In both conditions you are stuck with a condition you have little control over. You can’t really escape either condition and it is only really a fellow patient who can totally understand the problems you go through.
=========================================================
Just how much each condition defines our life is a debatable point; I think it varies from person to person. I think it is impossible to live with a condition such as KS or diabetes type I and not let it affect your life. However by talking to patients with other endocrine conditions sometimes you can get a better perspective on your own condition.
In my conversations with my colleague I think we can both safely say neither of us would want to swap conditions.
Saturday, March 19, 2011
The genetics of Kallmann syndrome and other forms of HH is a long way from being fully understood.
In a paper published in by the Proceedings of the National Academy of Sciences of the United States of America (PNAS) in 2010 a review listed 12 different genes that have been known, either in isolation or together that have been implicated in causing cases of KS or HH. Even with this number of genes involved over 60% of cases of KS and HH have an unknown genetic cause.
This means that there is no clear genetic test for KS or HH. Even if the you test for the two or three most common gene defects a negative result would not rule out a possible case of KS or HH.
PNAS 2010 Aug 107(34) 15140-4, Fig. 1
While Kallmann syndrome and HH cause a failure to enter puberty the root cause is located deep within the brain, specifically the communication between the pituitary and hypothalamus glands. It is a failure of the communication between these two glands that prevent the correct hormones being released by the pituitary gland which normally allow the development and correct function of the secondary sexual organs (testes / ovaries).
All the genes implicated so far in cases of KS / HH have some sort of role in the development of the communication pathways between the pituitary and hypothalamus. The pituitary and hypothalamus glands control many functions around the body. KS and HH are very specific conditions where only the sex hormone production side of their function is normally affected, leaving all the other functions intact. This is partly the reason why it is very a very difficult condition to detect early.
Apart from the lack of sense of smell, which is not unique, there is normally nothing to suggest a person has the condition until puberty fails to start. This makes diagnosis quite difficult sometimes, especially if doctors are not familiar with the condition. It is not unknown for some people with KS or HH to "know" they have a problem when young, but find it impossible to prove it or to persuade doctors to take them seriously.
Without a reliable genetic test too many people with KS or HH will be told they are "late bloomers" or "late starters" well into their late teens and are prevented from getting an early diagnosis or treatment.
In a paper published in by the Proceedings of the National Academy of Sciences of the United States of America (PNAS) in 2010 a review listed 12 different genes that have been known, either in isolation or together that have been implicated in causing cases of KS or HH. Even with this number of genes involved over 60% of cases of KS and HH have an unknown genetic cause.
This means that there is no clear genetic test for KS or HH. Even if the you test for the two or three most common gene defects a negative result would not rule out a possible case of KS or HH.
PNAS 2010 Aug 107(34) 15140-4, Fig. 1
While Kallmann syndrome and HH cause a failure to enter puberty the root cause is located deep within the brain, specifically the communication between the pituitary and hypothalamus glands. It is a failure of the communication between these two glands that prevent the correct hormones being released by the pituitary gland which normally allow the development and correct function of the secondary sexual organs (testes / ovaries).
All the genes implicated so far in cases of KS / HH have some sort of role in the development of the communication pathways between the pituitary and hypothalamus. The pituitary and hypothalamus glands control many functions around the body. KS and HH are very specific conditions where only the sex hormone production side of their function is normally affected, leaving all the other functions intact. This is partly the reason why it is very a very difficult condition to detect early.
Apart from the lack of sense of smell, which is not unique, there is normally nothing to suggest a person has the condition until puberty fails to start. This makes diagnosis quite difficult sometimes, especially if doctors are not familiar with the condition. It is not unknown for some people with KS or HH to "know" they have a problem when young, but find it impossible to prove it or to persuade doctors to take them seriously.
Without a reliable genetic test too many people with KS or HH will be told they are "late bloomers" or "late starters" well into their late teens and are prevented from getting an early diagnosis or treatment.
Thursday, January 20, 2011
Kallmann Syndrome, Self Image and Sex.
This is going to be a very personal blog entry and by its very nature it will be explicit in content in places.
I have spoken to a lot of people and met a lot of people with Kallmann syndrome (KS) and Hypogonadotrophic Hypogonadism and over time I have had some rather frank discussions.
To start with a little about me; as a 41 year old I am very sexually inexperienced, my total sexual experience amount to one failed sexual experience at the age of 37 and an occasional but not very fulfilling gay encounter (not full sex). Most people I talk to with KS are more sexually experienced than me but at the moment I can only speak from my own experience.
Looking back at certain situations certainly at University there were times when sex could have been available, but not being on treatment at the time I neither had the knowledge or the drive to take up the opportunity. I had no sex drive while as a teenage and had little interest or drive, I was just waiting for things to develop. I was 18 the first time I saw porn and had little knowledge of the small pieces of conversation I heard other boys having.
As with a lot (but not all) men with Kallmann syndrome I have underdeveloped genitals. With an erect length of a little over 4 inches it puts me in lower end of the range for “normal” men. As with some men with KS it is the lack of testicle size that is more of an issue for me than penis size. Not all men with KS are at the lower end size wise, some will consider themselves well in the “normal” range. I can just about live with being small; it is the lack of testicle size that is more annoying most of the time. Even though they play no part in penetrative sex, it does a lot to a man’s self image not to have a proper set of testicles.
Starting treatment early, preferably before the age of 17, appears to have a big impact on the final penis size. The earlier treatment is started the more likely it is for the penis to grow to whatever length it is pre-determined to get to.
I think in general men with KS have less sexual partners than other men and taking the first step is often taken with more trepidation than it is with every other man at some stage in their life. Most of the men I have spoken too were extremely nervous on the first attempt, but once sex drive overtakes inhibitions the outcome is well worth it.
Most men with KS will have normal sexual function with erections & ejaculation, but for some men the volume of ejaculate will be lower than some due to the underdevelopment of the testes and prostate gland. There will be a small percentage of men with KS with very under-developed penises (erect length of less than 1 inch) for whom penetrative sex would be very difficult.
In my many conversations with men with KS it is fair to say no one person is the same. I think all men with KS do have an issue with their self image and their sex lives at some stage. Most overcome it and end up in stable relationships with their partners. Finding the right partner is the key. Being in a stable relationship with an active sex life makes coping with Kallmann syndrome far easier for a lot of people I talk to.
This is going to be a very personal blog entry and by its very nature it will be explicit in content in places.
I have spoken to a lot of people and met a lot of people with Kallmann syndrome (KS) and Hypogonadotrophic Hypogonadism and over time I have had some rather frank discussions.
To start with a little about me; as a 41 year old I am very sexually inexperienced, my total sexual experience amount to one failed sexual experience at the age of 37 and an occasional but not very fulfilling gay encounter (not full sex). Most people I talk to with KS are more sexually experienced than me but at the moment I can only speak from my own experience.
Looking back at certain situations certainly at University there were times when sex could have been available, but not being on treatment at the time I neither had the knowledge or the drive to take up the opportunity. I had no sex drive while as a teenage and had little interest or drive, I was just waiting for things to develop. I was 18 the first time I saw porn and had little knowledge of the small pieces of conversation I heard other boys having.
As with a lot (but not all) men with Kallmann syndrome I have underdeveloped genitals. With an erect length of a little over 4 inches it puts me in lower end of the range for “normal” men. As with some men with KS it is the lack of testicle size that is more of an issue for me than penis size. Not all men with KS are at the lower end size wise, some will consider themselves well in the “normal” range. I can just about live with being small; it is the lack of testicle size that is more annoying most of the time. Even though they play no part in penetrative sex, it does a lot to a man’s self image not to have a proper set of testicles.
Starting treatment early, preferably before the age of 17, appears to have a big impact on the final penis size. The earlier treatment is started the more likely it is for the penis to grow to whatever length it is pre-determined to get to.
I think in general men with KS have less sexual partners than other men and taking the first step is often taken with more trepidation than it is with every other man at some stage in their life. Most of the men I have spoken too were extremely nervous on the first attempt, but once sex drive overtakes inhibitions the outcome is well worth it.
Most men with KS will have normal sexual function with erections & ejaculation, but for some men the volume of ejaculate will be lower than some due to the underdevelopment of the testes and prostate gland. There will be a small percentage of men with KS with very under-developed penises (erect length of less than 1 inch) for whom penetrative sex would be very difficult.
In my many conversations with men with KS it is fair to say no one person is the same. I think all men with KS do have an issue with their self image and their sex lives at some stage. Most overcome it and end up in stable relationships with their partners. Finding the right partner is the key. Being in a stable relationship with an active sex life makes coping with Kallmann syndrome far easier for a lot of people I talk to.
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