The Knowledge Base is aimed at the genetic and rare disease community with a centre of knowledge, guidance, advice and hope. It is a collection of invaluable resources including condition information, support groups, support organisations, and health professionals with a special interest in genetic and rare conditions.
7000 rare diseases
Only 5% have treatments
80% are genetically based
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1. First Symptoms
First symptoms may seem minor, which can delay the patient or family from responding quickly to them.
2. The Misdiagnosis Reality
New and different symptoms will often develop and occur more frequently, but they may seem unrelated.
3. Common Symptoms
Relatively common symptoms can hide underlying rare diseases, leading to misdiagnosis.
4. Limited knowledge
Due to the rareness of these diseases there is often limited public, patient/family and physician knowledge of the signs and symptoms of a rare disease.
5. Seeking answers online
A growing trend is to self-diagnose and seek possible answers online as differing and persistent symptoms lead to unanswered questions.
6. Referrals and repeat visits
These become very disheartening for the patient/family in their quest for a correct diagnosis
Misdiagnosis is extremely common and may mean multiple doctor/hospital visits, unnecessary tests, surgeries and treatments. Each new diagnosis brings hope….
…..followed by the feeling that nothing is working.
Physicians may prescribe for the one specific symptom they are treating, rather than look at other symptoms the patient is experiencing, delaying diagnosis.
9. Symptoms grouped
Symptoms of rare diseases appear common when seen alone but rare when grouped together. This is the shift in pathway to a potential diagnosis.
At this stage it is either this physician or an expert referred on to that makes the final diagnosis.
10. Confirming diagnosis
Diagnostic and/or genetic testing is typically performed to obtain an accurate diagnosis and confirm the presence of a rare disease.
Since the majority of rare diseases are genetic, it is also important to establish a family history.
It takes an average of 4.8 years to an accurate diagnosis – the first step to improving the care for those living with a rare disease, and their families.
Reaching the end of the diagnosis journey can bring relief for patients and their families and help them feel more in control of their lives.