De Novo Lynchie

De novo is a Latin phrase, literally translating to “from the new,” and in my case it lets my parents off the hook, thankfully it… Continue reading De Novo Lynchie

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Prove Them Wrong

I am one of those people who has to say hasn’t had the most straight forward life but because I don’t know any different to… Continue reading Prove Them Wrong

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Rare Disease Tri-fecta

I am 44 year old female. In the last two years, I have been diagnosed as having not one, not two, but three rare diseases.… Continue reading Rare Disease Tri-fecta

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once in a blue moon

once in a blue moon 1983 December – 1985 February Created by noreen on 18/02/2012 Once in a blue moon a very special person is… Continue reading once in a blue moon

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Living with two rare diseases

Penelope was born in June 2014 and after a very rocky start (needing ECMO treatment to save her life) we soon learnt that she had… Continue reading Living with two rare diseases

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In my early 40’s I started having quite a lot of odd symptoms like vertigo, headaches, falling and generally not feeling well. I went to… Continue reading CADASIL

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MPS II – Hunter Syndrome

My son was diagnosed with Mucopolysaccharidosis II (Hunter Syndrome) at the age of 6 – a progressive, incurable, life-limiting condition. Thank you for all the… Continue reading MPS II – Hunter Syndrome

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Fighting with c3 glomerulonephritis

Hi everyone! My name is Esther and i am diagonsed with C3 glomerulonephritis after i gave birth in 2013 to my first son. My blood… Continue reading Fighting with c3 glomerulonephritis

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Noel’s Prader-Willi Diagnosis.

When I found out I was expecting my 2nd baby in March 2013 after some trouble conceiving, I was excited. First 16 weeks I had… Continue reading Noel’s Prader-Willi Diagnosis.

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