Wednesday, 23 January 2013

Intro to the NF1 journey

I am starting this blog today to document what is going on with my daughter Taylor and her condition of Neurofibromitosis Type 1, or NF1 for short.   She has had some recent issues come up and I would like to keep friends and family informed easily of everything.

During Taylor's first year of life, I noticed a lot of what I called birth marks appearing all over her body.  I did not think anything of them.  At her one year exam, the pediatrician noticed them (called cafe au lait spots) and said that the high quantity and large size of them could mean that she had a genetic condition called NF and she needed to go to see a geneticist to confirm.  I had never heard of this NF and it was like, what?   Basically it is a genetic condition that causes tumors to grow on the nerves in the body.  There are some other things that can be a part of it as well, but that is the general problem.  Taylor went to see the geneticist a couple months later and she agreed she probably had it.  So, over the next 15 months they kept watching her and she developed the freckling that is another sign of NF1, and they also did some genetic testing... it was after all this that they finally fully confirmed her NF1 condition.

NF1 is very random in how it manifests in different people.  Some people will never have any issues and others may have tons of tumors or neurofibromas all over their body and in their body.  One of the main things they watch for is an optic glioma.  This is a brain tumor that grows on the optic nerve.  It can be dangerous and cause vision loss, so all NF1 patients see an ophthalmologist yearly for a checkup to try to catch any problems as quick as possible.  If something is suspected, then they get an MRI to get a better look.  NF1 patients also get yearly exams by a geneticist or similar type of MD who deals with NF to be on the look out for the many other things that could arise.

The past couple years have been fine, we have not had any problems with her NF.  Until now... see next post.

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