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  • How were you (or family member) diagnosed?

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    Old 02-20-2017, 03:55 AM   #1
    VicLF
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    Join Date: Oct 2016
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    VicLF HB User
    How were you (or family member) diagnosed?

    NF1 is a very new thing for me and I am still trying to wrap my head around it. I had never heard of the condition until recently and I feel like I have been on a health roller coaster for quite some time. Here is my story:
    Several years ago, by accident, doctors found that I have benign tumors on my liver (focal nodular hyperplasia) and kidneys (angiomyolipomas). I also have cysts on my kidneys. We had been monitoring these tumors yearly for growth, but I was told they are benign with no cause for concern, so I didn't think about it much. Last year, I had my gallbladder removed and at the same time, the doc biopsied the liver FNH to make sure it was actually an FNH, as these tumors do not usually grow, but mine had doubled in size. It was in fact an FNH. We scheduled a CT scan 6 months later for follow-up and he found that the FNH was stable, but one of the angiomylipomas had grown to about 5cm. He referred me to a urologist. The urologist said that we could remove the tumor, which would include a partial nephrectomy or we could embolize it. I chose to embolize it and she referred me to a special type of radiologist. Up to this point, nobody had ever mentioned any explanation for these tumors, just that they were incidental and benign, so nothing to worry about except for growth. When my husband and I went to the consultation for the embolization, the radiologist walked and said "so, how long have you known you have had tuberous sclerosis." I was dumbfounded. I asked him if he had the wrong room/wrong patient. I told him I have never heard of tuberous sclerosis. He was floored that nobody had ever talked to me about it before, as angiomyolipomas are strongly associated with it, especially when you have multiple, which I do. He couldn't refer me to anyone, but encouraged me to reach out to the local teaching hospital, which I did. Fast forward a few months, I have not been to see a geneticist. Funny, but I did not have the genetic mutation for tuberous sclerosis, but I did have the genetic mutation for NF1. And now I am stuck with no real direction of what to do next. I have some symptoms that lead me to think I might need an MRI of the brain (off balance feeling and migraines). I have not actually been diagnosed with NF1, so I am curious how all of you were diagnosed. I appreciate any info you can provide.

     
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