Rare diseases

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Welcome to the 3rd annual Idiopathic Hypersomnia Awareness Week! 7-13th September 2015 #IHAW2015


Hypersomnia Awareness Week

Hypersomnia Awareness Week

Welcome to a guest post from Michelle Chadwick of Hypersomnolence Australia telling us about this weeks  Idiopathic Hypersomnia Awareness Week.  She says:-

“Hypersomnolence Australia launched the first international Idiopathic Hypersomnia Awareness Week in 2013 with a radio interview discussing the importance of community awareness. This year we will be focusing on education with a written tribute tothe renowned Czech neurologist Bedrich Roth who was responsible for identifying and naming Idiopathic Hypersomnia.
This year marks the 35th anniversary of Roth’s classic 1980 text Narcolepsy and Hypersomnia (S. Karger; NY, NY). In our tribute “Bedrich Roth, His Life’s Work and the 35th Anniversary of the Book “Narcolepsy and Hypersomnia” we document Roth’s significant contribution to the pioneering pathophysiology and epidemiological study of narcolepsy and Hypersomnia. Narcolepsy and Hypersomnia contributed to the English literature for the first time the largest most meticulously followed series of all the then known neurological sleep disorders.

We have been discussing Roth’s life work, his book and the current issues with regards to idiopathic hypersomnia with sleep researchers and clinicians throughout the world including Professors Roger Broughton, Michel Billiard, Karel Sonka, Sona Nevsimalova, Isabelle Arnulf and David Rye.

It is clear that:

– Idiopathic hypersomnia is often misdiagnosed and misinterpreted. Education of physicians and sleep specialists is imperative.

– Current testing methods (MSLT) and diagnostic criteria is inappropriate. There is an urgent need for biological markers.


– ICSD3 combined idiopathic hypersomnia is not supported by data. It is a step back in the definition of idiopathic hypersomnia as it potentially encompasses a variety of different diseases.

– The exact prevalence is unknown but is thought by many to be as high as Narcolepsy.

– Further research is required on the genetic aspects of the disease.

– Idiopathic hypersomnia (IH) is a “true” and disabling neurological sleep disorder. People with IH are not lazy, sleepiness is a symptom of the disease and is usually not relived by sleep or medications.

– There are no approved medications specifically for Idiopathic Hypersomnia. Medications used to treat Narcolepsy including stimulants and wake-promoting medications are prescribed to counter daytime sleepiness however there are no medications that assist with the extreme difficulty waking up or the sleep drunkenness. Stimulant and wake promoting medications can be helpful to relieve sleepiness for some patients however for many they are not effective or appropriate. New and appropriate therapies are needed.

– The impaired cognitive ability, the excessive sleep, and continuous feeling of never being fully awake profoundly affects work, education, and quality of life and leaves sufferers at risk of potentially life-threatening accidents.

What can you do to help raise awareness?

  1. Like our Facebook page and join the Facebook awareness week event
  2. Follow us on Twitter tweet and retweet us @Hyper_Sleep
  3. Use the hashtags #IHAW2015 and #HAIHope to tell us what you hope for.
  4. Share our posters or make your own and share them with us!
  5. Change your profile picture and cover photo
  6. Share your Patient Perspective send us an email to hypersomnolenceaustralia@gmail.com
  7. Share the Idiopathic Hypersomnia Fact Sheet electronically or download and print out a copy for your health professionals
  8. Make a tax deductible donation
  9. Share your ideas with us. If you have an idea for raising awareness, fundraising or have a talent you think could help? Then send us an email hypersomnolenceaustralia@gmail.com

 

And don’t forget to share our great “you know you have idiopathic hypersomnia when…” memes!! You can find them here“

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Kallmann syndrome – check out this guest post from Neil Smith and get better informed.


Kallmann syndrome

Kallmann syndrome

Kallmann syndrome is a rare genetic disorder which is characterised by the failure to start or failure to fully complete puberty. It is also associated with a lack of sense of smell.

If affects both men and women but is apparently 5 times more common in men. The incidence is unknown but is estimated to be between 1 in 50,000 and 1 in 100,000 live births.

Patients with Kallmann syndrome will have poorly developed secondary sexual characteristics and will almost invariably be infertile. The condition is genetic in origin but there is no one single gene defect responsible and 50% of cases have an unknown genetic origin.

Unless there is a family history of the condition or other symptoms present diagnosis is often not made until late teens or early 20’s when puberty has not started. Due to its rarity patients often have problems being diagnosed and are often classed as “late bloomers” or “late developers” well into their late teenage years or even beyond.

Low levels of oestrogen in females or testosterone in males leaves patients at high risk of developing osteoporosis or type II diabetes. While neither oestrogen or testosterone is vital for life the absence of these hormones affects the quality of life especially in terms of libido, sleep patterns and energy levels.



It is a pituitary condition where the underlying problem is a problem in the communication between the pituitary and hypothalamus within the brain which prevents puberty from occurring at the same time.

Treatments involve the use of hormone replacement; oestrogen & progesterone for females and testosterone for males. Fertility treatments are available for both men and women but these can be expensive and in the case of the men can take at least two years to be successful.

When treated there are no known long term adverse health effects with having this condition. However it can produce severe psychological effects depending on the age of diagnosis and treatment given due to:

Late diagnosis

Not developing at the same time as your peer group

Infertility

Lack of confidence in forming social and physical relationships

Difficulty in finding doctors who have heard about the condition and have treated other patients

Difficulty in finding other patients who you can communicate with

There are a number of other symptoms associated with some forms of Kallmann syndrome such as nerve deafness, mirror movements of the hands and facial / dental deformities. The range and severity of symptoms seen vary enormously from person to person and even two siblings will not have the same symptoms.

https://en.wikipedia.org/wiki/Kallmann_syndrome

https://kallmannsyndrome.wordpress.com