Refsum Disease. As often happens with rare diseases, even this one has a rather strange name, it is one of those diseases that has more synonyms than real treatments, in fact it is also known by the names of atheic polyneuritiform heropathy, phytanic acid deficiency disease and storage disease of phytanic acid.
Refsum disease (RD) is a very rare, clinically variable, multisystem metabolic disease.
Emma is a sweet and lively 8 year old girl born with the disease of Refsum.
I met her and her family in September 2017 and I was deeply impressed by how they were facing this rare disease. I decided to document the steps forward and the steps backwards that they faced daily trying to understand this disease.
Both parents work to support the family and the many expenses a child with a rare disease requires.
In October 2017 she was diagnosed with RD and her specific diet for celiacs was further stiffened by eliminating all foods containing phytanic acid.
Under these conditions, even 100 grams of weight gained is a victory.
A rare disease means that most of the time doctors learn from their patients and research is often done “in the field” with the help of brave parents.
The Rares are not just statistics and numbers in a spreadsheet, the Rares are strong families that fight against a world of ignorance and prejudice. Their strength and tenacity must be a source of inspiration.
On February 28th, Rare Disease Day is celebrated all over the world. In Italy, as in every country that adheres to the initiative, many activities are planned with the aim of giving a voice to the thousands of situations, often unknown, which continually engage in facing the difficulties that a rare disease poses.
In Modena in particular, on Sunday 24 February, the #ModenaRun4Rare run-walk will be held, now on its fifth edition, #RareDiseaseDay!
Over 2 million people in Italy and an estimated 30 million in Europe have a rare diseas.
In my photographs I have tried to focus not on the disease itself but rather on the everyday life of Rare families, photographing the affection, the effort, the joy that ultimately unites all families.
Emma’s family is part of a larger photographic project that developed between 2017 and 2018. All the details and a selection of photographs are available on the project page.
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