rare diseases

Leave a comment Posted on June 9, 2015June 8, 2015 Rare diseases

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

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

Leave a comment Posted on February 16, 2015 Patient Talk

Rare Disease Day 2015 – Please share to show your support!

28th of February this year sees Rare Disease Day 2015. As with previous years we are delighted to show our support for this important event.

Rare Disease Day is an annual awareness day dedicated to elevating public understanding of rare diseases and calling attention to the special challenges faced by patients and the community. You might be interested in a recent post on Huntington’s Disease we ran.

According to the National Institutes of Health (NIH), a disease is rare if it affects fewer than

Rare Disease Day 2015

200,000 people. Nearly 1 in 10 Americans live with a rare disease—affecting 30 million people—and two-thirds of these patients are children. There are more than 7,000 rare diseases and only approximately 450 FDA-approved medical treatments.

Rare Disease Day takes place every year on the last day of February (February 28 or February 29 in a leap year)—the rarest date on the calendar—to underscore the nature of rare diseases and what patients face. It was established in Europe in 2008 by EURORDIS, the organization representing rare disease patients in Europe, and is now observed in more than 80 nations. Rare Disease Day is sponsored in the U.S. by the National Organization for Rare Disorders (NORD)®, a leading independent, non-profit organization committed to the identification, treatment, and cure of rare diseases.
For more information about Rare Disease Day in the U.S.,or global activities click the relevant links.

To show your support please feel free to share the brilliant infographic below.

Rare Disease Day 2015

Leave a comment Posted on February 26, 2014February 28, 2014 Patient Talk

Rare Disease Day – Friday 28th Feb 2014 is Rare Disease Day. Please share to help us raise awareness of minority medical conditions

Rare Disease Day 2014- click to enlarge

EURORDIS the organisers of Rare Disease Day share “28 February 2014 is Rare Disease Day. Throughout the world, rare disease patient organisations and their partners will join forces to promote awareness for rare diseases and the millions of people affected by them.

This year, Rare Disease Day puts the spotlight on Care. Caring for people living with a rare disease has many facets. The 2014 slogan “Join Together for Better Care” emphasises that the many different aspects of rare disease care represent a universal need for patients and their families around the world. Advocating at the local and national level to improve the lives of people living with a rare disease and their families is necessary.

Rare Disease Day was launched by EURORDIS and its Council of National Alliances in 2008. Held on the last day of February each year, it seeks to raise awareness for the impact rare diseases have on the lives of patients and those who care for them. A record 72 countries and regions participated in 2013 and over 80 are expected this year.

What began as a European event quickly became international in scope, with participants from more countries joining each year. Rare Disease Day 2014 already has several first-time participant countries and regions on board – including Cuba, Ecuador, Egypt, Jordan, Kazakhstan, Kenya, Oman and Paraguay. Since Rare Disease Day began, thousands of events have been held throughout the world, reaching hundreds of thousands of people.

The European Union considers a disease as rare when it affects fewer than 1 in 2,000 citizens. Over 6000 different rare diseases have been identified to date, affecting over 60 million people in Europe and the USA alone. Due to the low prevalence of each disease, medical expertise is rare, knowledge is scarce, care offering inadequate, and research limited. Despite their great overall number, rare disease patients are the orphans of health systems , often denied diagnosis, treatment and the benefits of research.

You can find out more at their web site: http://www.rarediseaseday.org/article/about-rare-disease-day