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‘How I came to terms with the disease’ – Woman with rare skin condition

Rare skin desease
Rare skin disease

A woman with a rare condition that leaves her with bubble-like tumours on her body has spoken about how she has come to terms with the disease.

Sandra De Santos, from Rio de Janeiro, said that she often finds people staring at her or she feels sad when she sees herself in the mirror.

She suffers from neurofibromatosis type-1, a genetic condition that affects the nervous system and skin in many forms. It is relatively common, currently occurring in about one-in-three thousand births, but in differing degrees of severity.


The condition is genetic and three of her four children also have it. Her second child died at the age of six as a result of problems associated with it.

She said: ‘I always asked the doctors if it was due to my condition, they said it wasn’t related to it. But when he died I read on his death certificate: ‘sarcoma due to neurofibromatosis’.

‘I became quite sad for a long time. I have three kids, two have the condition. But they look to me as an example, so I keep going.’

Sandra and her parents had no idea that she had any health problems until she reached puberty.

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Signs of the condition can appear at birth, and include the skin having several pale, coffee colour patches called cafe au lait spots, or the appearance of benign lumps – known as neurofibromers.

When Sandra was diagnosed in the 1970s, very little was known about the condition.

She said: ‘Everyday I woke up, I’d notice a new lump. I saw myself as being different. Despite this, nothings stopped me from doing things. I always dated. I started dating at 17, and I dated a lot. I kissed a lot. I went to the balls a lot.’

By her mid twenties, Sandra’s torso was covered in small tumours, and they had started to grow on her arms and face.

It was then she met her husband to-be, Jose.

Sandra said: ‘He fell in love with my lumps. He realised I was really unique and decided to go for it. He stayed with me. We’ve been together ever since. We dated, got engaged, then married, it’s been 27 years.’

Sandra and Jose’s 21-year-old son Sandro is still coming to terms with his increasing number of tumours. Their youngest, 16-year-old Luana, has several café au lait spots but as of yet, no tumours have developed.

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Luana said: ‘I have the same disease my mother does, but it never gets in my way. Mum taught me not to care, to see it as something normal. If I become like her, I wont care.’

To date, there is no cure for NF1, the only treatment Sandra has received is tumour removal.

Dermatologist, Professor David Azulay said: ‘The most important thing for Sandra is to live her life as normally as possible. With hundreds of tumours it’s hard to remove them all. But when she gets bothered by one, she has surgery.’

Sandra’s tumours aren’t painful but they’re made of a complex mass of nerve fibers, connective tissue and itny blood vessels, so it hurts to have them dug out. Surgery is performed using local anaesthetic.

As neurofibromatosis type-1 is such a complex genetic condition, research into finding a cure is still in the early stages.


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