Rare Diseases

Shafon: An MPS VI Story

Mucopolysaccharidosis type VI

Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a progressive condition that causes many tissues and organs to enlarge, become inflamed or scarred, and eventually waste away (atrophy). Skeletal abnormalities are also common in this condition.
The Enzyme replacement therapy Galsulfase can be used for individuals with a confirmed diagnosis of MPS VI.

Go Make Memories

Niemann-Pick disease

Niemann-Pick disease (NPD) is a group of diseases passed down through families (inherited) in which fatty substances called lipids collect in the cells of the spleen, liver, and brain. There are three common forms of the disease.
Niemann Pick disease type B can be treated by using Olipudase Alfa, which is an Enzyme Replacement Therapy. For mild to moderate Niemann Pick disease type C, a drug called miglustat can be used.

Midnight sun

Xeroderma pigmentosum

Xeroderma pigmentosum, which is commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system.
Xeroderma Pigmentosa is managed by preventative techniques such as avoiding the sun, using sunscreen, wearing protective clothing and regular screening for changes in the skin, vision, and neurologic status.

The Elephant Man

Proteus syndrome

Proteus syndrome is one of the rarest genetic conditions in the world. The syndrome causes abnormal overgrowth in certain parts of the body. It is commonly called the Elephant Man disease. This overgrowth results in significant lifelong physical differences and potential disabilities.
Treatment of Proteus syndrome includes surgery and physical therapy.

Barfi

Autism

Neurodevelopmental disorder- Characterized by impaired social interaction, communication, speech delay, restricted and repetitive behaviour. Parents usually notice signs in the first two years of their child's life.
Autism can be treated by behavioral therapies based on applied behavioral analysis (ABA), occupational therapy, speech therapy, physical therapy and pharmacological therapy.

Taare Zammen Par

Dyslexia

Most common learning disability in children and persists throughout life.
The severity of dyslexia can vary from mild to severe.
Dyslexia is treated using specific educational approaches and techniques.

Paa

Progeria

Progeria is an extremely rare genetic disorder in which symptoms resembling aspects of aging are manifested at a very early age.Those born with progeria typically live to their mid teens to early twenties
Not curable/treatable.
Lonafarnib, a farnesyltransferase inhibitor, is an oral medication and can be used in treatment of Progeria to prevent the buildup of defective progerin or progerin-like protein.

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