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James

hello my name is Rhonda heggie I have a son name is James he is 17 years old he has rubienstien tabyi syndrome he is… Continue reading James

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CESD

Cholesteryl Ester Storage Disease is an inherited metabolic disorder for which there has been no treatment until 2016. The synthetic enzyme “Kanuma” is now available… Continue reading CESD

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Too rare to have in Adelaide

I seem to be collecting rare diseases but the doozy has been relapsing polychondritis. I was referred to a rheumatologist who straight out said ‘it’s… Continue reading Too rare to have in Adelaide

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An MSUD CF Warrior

I’d like you to meet Johnny! He is 22 months old. When Johnny was just 4 days old his newborn screening tested positive for a… Continue reading An MSUD CF Warrior

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Naël, mon ange bébé parti trop tôt

Heureuse Maman de 3 enfants jusqu’au jour où tout bascule. Mon bébé âgé de 3 mois et demi commençais à avoir des bouton au niveau… Continue reading Naël, mon ange bébé parti trop tôt

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Juvenile myositis

Everyday I would wake up with aching legs, arms, neck, my whole body. From thinking it was growing pains and hoping tomorrow will be the… Continue reading Juvenile myositis

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A Soup of Rare Diseases

I’ve never been a “healthy” person. All my life I struggled with health issues. I grew up in an area of the United States called… Continue reading A Soup of Rare Diseases

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My desmiod fibromatosis story

I was diagnosed on the 14th December just before my 17th birthday last year with desmoid fibromatosis. it took a very long time to find… Continue reading My desmiod fibromatosis story

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I am strong

All my life things have been hard , from having to overcome prematurity to learning disabilities and autism things were always a struggle. Through my… Continue reading I am strong

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