Tags » Neurofibromatosis



Definition: an autosomal dominant genetic disorder affecting cells of neural crest origin (e.g. melanocytes, craniofacial cartilage and bone, smooth muscle, peripheral and enteric neurones and glia), resulting in development of multiple neurocutaneous tumours. 658 more words


Neurofibromatosis Type 1, IVF and PGD (Preimplantation Genetic Diagnosis)

I had a meeting with the Genetic Counsellor at our clinic yesterday, following the Neurofibromatosis Type 1 ‘diagnosis’ of about a month ago.  More about that on my post here: … 501 more words


24th March 2017 - Blog Diary

Today I wrote this in my diary:

I’ve noticed a change in me since the NF1 diagnosis.  I’m not sure how to express it.  Before I was holding on and being strong and now it feels like I’ve let go, surrendered.  434 more words


Learning That I Don't Have to Tolerate Pain

One of the words that could summarize my life is pain: lots and lots of really bad pain. There have been many periods–years long–during my life where I hurt essentially all of the time. 424 more words

Thoughts And Perspectives

Hello, I'm a mutant.

Yesterday was an awful day. The egg collection is off. Another barrier to having babies has reared its ugly head.

Long story short… It turns out I have Neurofibromatosis, type 1. 739 more words