A blog about Neurofibromatosis

This is a condition that is close to my heart, this hereditary disease runs in most of my family members.

NF1 is a very common condition but there isn’t much information that a GP can really give you about it – genetic clinics however are more clued up on the condition but not many sufferers have this sort of care on the NHS unless they see their GP for a referral – this can be very time consuming as there are not many hospitals in the UK that specialize in this condition.

What is NF? – It is a genetic condition which can be passed down generations however, not all offspring are affected unless both parents have the condition. These are fatty lumps that appear on the skin, normally from birth. they vary in size and can appear anywhere on the body – Not all growths are painful but they can be if they are near bra straps, creases and crevasses of the body.

They also develop under the skins surface and can feel like tumours  – this is a different strain called NF2 however they are not necessarily linked which means that you don’t have to have the 1st strain to get the 2nd strain.

Over the years I have been going to the genetic clinics with my mother as she has the NF1 strain and it has many unpleasant and can have quite life-threatening effects on a person, I have learnt first-hand as I have lost 1 uncle from a heart related death due to NF and I have a cousin that has been diagnosed with autism and has battled cancer twice that was possibly linked to the condition.

Her first diagnoses when she was just a year old was with cancer in the eye which led to the eye being removed and replaced with a glass eye and when she was 15 with the brain cancer which she has just completed her long course of chemo (fingers crossed for her)


Other linked illnesses can also include:

  • Eye, skin and bone abnormalities
  • Optic nerve and brain tumours
  • Learning and attention defects
  • Problems with keeping balance in later age.

I have 10 members of my family (including myself) and only 4 of us do not have this condition, we have all been tested at the genetic clinic and this is a painless procedure which does not involve blood tests.

This very straight forward and only involves a UV light being shone on naked skin and eyes, the Dr said that when you shine this light on an NF sufferer brown spots appear in the pupils, this can also indicate if the NF has developed on the optic nerve hence why they concentrate on this area.

Removal of the growths can be hard as most surgeons won’t go ahead with procedure unless a criterion is met…. This may include the following:

  • Size of the growth
  • More than 3 small lumps in the same area of the body
  • Area of the body that the growths are on

Removal of the growths on the skin is done under local anaesthetic either by injection or numbing cream, the growth is the sliced off and often stitched with a dissolvable suture. The growths under the skin are removed using general and may involve a few days in hospital.

I hope that the information I have provided has been of use, if there are any questions that you have then please feel free to contact me and will answer all your questions.

I have lived through most of the effects of this condition all my life as I have a very close relationship with all my family and go through most of the pain and procedures with them.

Stay healthy and BIG loves

Louise x

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