miércoles, 29 de mayo de 2013

Bringing up 2 Children with EPP - Porphyria community - RareConnect

Bringing up 2 Children with EPP - Porphyria community - RareConnect

Bringing up 2 Children with EPP

Listed below is the brief story of our journey with EPP.
Written by Terryb, published 9 days ago.
Bringing up 2 Children with EPP We have 3 teenage children. the two eldest have EPP and the youngest carries the gene. We first noticed problems with our two eldest on holidays to Spain when even when not in the sun and covered with factor 50, they complained of burning hands. Both my daughter and son suffered scarring and skin flaking away from their hands and feet and in one very alarming incident my daughters face blew up like a balloon and the skin across it split.
We naturally started to consult medical professionals very quickly, but it took about 3 years for the full diagnosis to come through. Once we had the diagnosis of EPP the children attended Hope Hospital in Manchester where their care has been excellent.
It has meant us making some changes to the way we live our lives to ensure that they are both protected from the sun, but over time they have learnt to manage their condition within reason. They keep well covered, in the shade and when we holiday they swim in early evening or we choose hotels with indoor pools. Though I must admit looking back at pictures of them sitting in the sun in their early years makes me shudder now that I know what it must have been doing to them, even with hats and sun cream on.
We are still looking to erradicate EPP from their lives and potentially from the lives of their children when the time comes. Seeing them struggle with burnt and cracked hands and faces has been horrible and not something I want to see again.
The conference in Luzern was a huge step forward in our understanding of Porpyhria, its short term and long term impacts and also potential treatments and it was well worth the trip and all the effort put in by everyone to organise it. So many thanks to Rocco and Jasmine.

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