To be or not to be ... properly diagnosed .........

 

...... that’s the question that many patients who suffer from an undiagnosed rare disease ask themselves or their families, friends and caregivers do.

  • Rare disorders present with such an unfamiliar combination of signs and symptoms, that it makes them for most physicians very difficult to diagnose!
  • These rare illnesses are often genetic, debilitating, progressive and/or life threatening.
  • There are approximately 7,000 rare diseases identified.
  • These rare disorders affect <1/2000 citizens in Europe and <200,000 citizens in the US or an estimated 350 million people or on average only 50,000 patients per rare disease worldwide.
  • <1% is diagnosed and an even smaller number is adequately treated.
  • 75% of the people affected are children.
  • 30% of these children will not live to see their 5th birthday.

 

Regardless of how many treatments are available today or will be in the near future, patients in medical need pof these new therapies may never benefit from them if they cannot get properly diagnosed in the first place! Patients are often referred to numerous physicians and subjected to multiple, costly and sometimes unnecessary medical tests. There is significant lack of knowledge and awareness about these rare illnesses and the reason that this Diagnostic Odyssey in Rare Disorders continues to exist for more than 30 years.

 

http://html.investis.com/s/shire/shire/index.html

There is a consensus amongst key opinion leaders and other stakeholders in the global rare disease community that this serious dilemma needs to be addressed and solved, sooner than later.

We have developed an innovative, rare disease specific, custom designed, best in class, patent pending solution that could potentially end this "Diagnostic Odyssey in Rare Disorders™". This portal called RareMD™ supports physicians in their differential diagnosis process of patients who present with a complex and unfamiliar combination of signs and symptoms.

Please visit web page titled The Diagnostic Odyssey in Rare Disorders™ in the main menu bar for more information about this innovative product we developed to do just that.

 

Picture: The treating physician informed us that "this patient has had stiffness of his hands since he was 5 years old. He was seen by an orthopedist at another hospital before visiting with a dermatologist at the second hospital. He was referred to his current treatment center at the age of 8.5 years. At that time, his intellectual quotient was 51. The enzyme assay and molecular analysis confirmed the diagnosis of Mucopolysaccharidosis type II, MPS II or Hunter syndrome. He makes regular follow-up visits to ophthalmologist, ear, nose, and throat, ENT, specialist, cardiologist, and pulmonologist. The patient is now 20 years and has obstructive sleep apnea (OSA) requiring Continuous Positive Airway Pressure, CPAP, at night". Published with consent from family.