My HLRCC Story

Around 12 years old I spent an entire year going to many a dermatologist in order to diagnose a cluster of red bumps on my forearm. It wasn't until 7 years later at 19 years old that these bumps were finally diagnosed as pillar lieyomyoma when I had a very large and bothersome singular one removed from my upper left thigh.

Written by SamRenae, published about 1 year ago.

Armed with this diagnosis and soon after finding out about some pretty large clustered uterine fibroids I scoured the internet and found my diagnosis of Reeds syndrome. At this point or at least in my findings the risk for kidney cancer was not linked and so I did nothing for 4 more years until both the bumps and fibroids became more aggressive. I printed out my internet diagnosis (sure the doctor would think I was crazy) and made an appointment with a university dermatologist. To my surprise he agreed and had heard of a genealogist at the NIH in DC that was conducting research on this group!

I connected with the genealogist and flew out to the National Institute of Health in Washington DC the next month! This was the first time I heard the syndrome was no longer called Reeds and was referred to as HLRCC which was my introduction to "you might get cancer" as well as "you might not be able to have children" (see also: MCUL). I was tested and diagnosed and happy to schedule a myomectomy ASAP, less happy to find out there was little to be done for the skin bumps that were becoming more apparent and more bothersome. I was part of a Botox injection clinical trial for the pain of the skin bumps which was intensely painful to get and only lasted maybe 6 months. Had my myomectomy in 2010 at 25 hoping to be prepared to try for a pregnancy within 5 years. 3 years later we were ready but the pain had returned and after an ultrasound found out the fibroids had returned with a vengeance. Planning to have my second abdominal myomectomy next month (May 2014). I've been on Lupron the past 4 months to shrink the fibroids for surgery as well as increase my hemoglobin as it had dipped very low in the last year due to menorrhagia.

My bumps have also been increasing in number and pain a lot in the last couple years and it has been a very hard struggle. They are primarily on my left side but now cover most of my arm, back, chest and leg. I hate trying to explain or just see strangers look at me funny. I like to run and do yoga but the bumps become very red when I am flush from working out and so I avoid groups and gyms. I try very hard to find strength so that I do not pass on any insecurities to my future child. Does anyone else deal with these insecurities? I know it is so minimal in comparison to the potential for cancer but I have them on the side of my face and I just find it very difficult sometimes.

I have monitored my kidneys with yearly imaging and thus far they look great aside from an adenoma on an adrenal gland that doesn't seem to be changing or causing any problems.

Neither of my parents have any symptoms and have refused to be checked for the condition. Although my grandmother died at the age of 25!!!! Due to ovarian cancer it is suspect that it was secondary cancer due to HLRCC. My mother does not want to have the guilt of passing this on to her children and so avoids diagnosis. My father just doesn't go to the doctor, for anything. My younger brother flew to NIH in DC for screening and was diagnosed last year through genetic testing but does not have any symptoms. I have an older half -brother who I am a bit estranged from who I have not made mention of the condition who just had a son and is trying to have another child, I feel some guilt in not telling him even though it is far more likely my mother was the carrier.

So this is very long winded but I have never said/written most of this down and it is a bit cathartic. I hope to connect with some people who share in some similar experiences with this rare diagnosis.

Written by SamRenae, published about 1 year ago.

- See more at: https://www.rareconnect.org/en/community/hereditary-leiomyomatosis-and-renal-cell-cancer/article/my-hlrcc-story#sthash.4UQh7Cy2.dpuf