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Rare Diseases

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Rare Diseases

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Did You Know

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

Did You Know
Did You Know
6-8 Years

average time to get an accurate rare diagnosis

Did You Know
50% of people

affected by rare diseases are children

Did You Know
80% of rare diseases

have identified genetic origins

Did You Know
65% of rare diseases

are associated with a reduced lifespan

Did You Know
3 of 10

children with a rare disease won’t live to see their 5th birthday

Did You Know
95% of all rare diseases

do not have a single FDA approved drug treatment

Did You Know
28%

of neonatal intensive care deaths are caused by a rare disease

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WHEN A DISEASE AFFECTS FEWER THAN 1 IN 2,000 PEOPLE, IT IS CALLED “RARE”

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.

whatLsd

Hijab Atif, 14 years
LSD patient

What are Lysosomal Storage Disorders (LSDs)?

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.

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Our Role

We 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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LSD

Challenges

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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In Pakistan, 32 patients of LSDs have accessed life-transforming therapies between 1997-2022.
Pompe disease

1 patient

Gaucher disease

18 patients

MPS-1

3 patients

Acid Sphingomyelinase Deficiency (ASMD)

10 patients

In Pakistan, 32 patients of LSDs have accessed life-transforming therapies between 1997-2022.
Pompe disease

1 patient

Gaucher disease

18 patients

MPS-1

3 patients

Acid Sphingomyelinase Deficiency (ASMD)

10 patients

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Meet Musfira
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