6-8 Years
average time to get an accurate rare diagnosis
50% of people
affected by rare diseases are children
80% of rare diseases
have identified genetic origins
65% of rare diseases
are associated with a reduced lifespan
3 of 10
children with a rare disease won’t live to see their 5th birthday
95% of all rare diseases
do not have a single FDA approved drug treatment
28%
of neonatal intensive care deaths are caused by a rare disease
average time to get an accurate rare diagnosis
affected by rare diseases are children
have identified genetic origins
are associated with a reduced lifespan
children with a rare disease won’t live to see their 5th birthday
do not have a single FDA approved drug treatment
of neonatal intensive care deaths are caused by a rare disease
There are more than 7000 rare diseases that affect nearly 300 million people around the world. The plight and challenges associated with rare diseases are unique, and often commonly experienced by patients of rare disorders across the globe.
Hijab Atif, 14 years
LSD patient
LSDs are a group of 50 inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body’s cells as a result of enzyme deficiencies leading to progressive physical and mental degradation over time.
MoreWe have been actively supporting the rare disease community, specifically patients of Gaucher, Pompe, Fabry and MPS I in Pakistan since 2013, through our transformative therapies, patient support programs, partnerships with the healthcare community and patient societies and advocates. Additionally, we have been the pioneers of introducing and facilitating patients with free of cost diagnostic support through “Dried Blood Spot Test” (Enzyme Assays & Mutation Analysis).
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Inadequate scientific data, and quality information, lack of diagnostic facilities, delayed or incorrect diagnoses, expensive treatments, scarce medical and social support etc., all add to the mental, emotional and financial burden of patients affected with a rare disease.
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18 patients
3 patients
10 patients
