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Rare skin disease may lead to kidney failure

NHS denies treatment for sisters with rare skin disease. Without treatment the sisters could likely develop amyloidosis which could lead to renal failure.
The sisters are hoping that continued pressure to raise awareness of the condition will help their fight for treatment.
The sisters developed the condition due to their own identical gene mutation – the odds of which are one in three billion.
Kay Baillie, left, and Harriet North suffer from the incredibly rare TRAPS diseaseA pair of sisters, who are two of just 60 people in the UK suffering from a debilitating disease, have been denied vital treatment by the NHS due to costs.
Tesco worker Kay said: ‘Ultimately we want to raise awareness for the drug to be available to everyone with TRAPS.


referring to His mom and dad started an organization is his name to help raise awareness in Wisconsin about the rare disease, One Rare Boy.
Plan B generously gave away a free glass of beer to anyone who bought an One Rare Boy glass in support of Eli’s organization.
MADISON, Wis. (WMTV) — The Hibernation Liberation art show was a way for local artist to debut some of their spring work, but also a way for people to learn about a rare bone disease that has changed the life of an 8-year-old boy in Madison.
It starts with a malformation of the great toe at birth, and develops with age into a progressive rogue bone growth.
He is one of the 800 people in the world with the disease.

referring to

CHMP backs two rare disease therapies at April meeting

Spinraza is the first drug for the rare and often fatal genetic disease to be approved in Europe, which causes muscle weakness and progressive loss of movement.
There is no approved drug to treat the underlying disease process and treatment efforts currently rely on managing symptoms.
Biogen’s Spinraza and BioMarin’s Brineura near EU approvalTwo new drugs for rare diseases from Biogen and BioMarin headed the list of new therapies backed by the EMA’s Committee for Medicinal Products for Human Use (CHMP).
Kevzara was turned down by the US FDA last year because of manufacturing deficiencies but has since picked up an approval in Canada.
Biogen closed in on EU approval of its spinal muscular atrophy (SMA) treatment Spinraza (nusinersen) in Europe, having already picked up a US approval for the highly-priced drug as 2016 drew to a close.

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