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marlinsandthetrout · 2 years

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About Neurofibromitosis

Hi. I’m Pepper. I’m a 20-something and I have a genetic disorder called Nf1, or Neurofibromitosis type 1. What the hell is neurofibromitosis? I’ll tell you! There are 3 different types, but I will be covering Nf1 only. So, cells naturally like to divide and replicate, right? That’s what they do. 6th grade biology 101. But obviously, cells dividing and replicating everywhere unmitigated would be a bad thing, because that’s how you get tumors, cancers, etc. So. Your body has a gene, called the Nf1 gene, that produces a chemical called neurofibromin. Neurofibromin is a tumor-inhibitor. So your body basically has a natural gene that says “no tumors”. My body does’t have that gene! So my body says “yes tumors”!!! Which means that my body spontaneously grows thousands of tiny tumors wherever and whenever it wants. For this reason I joke that Nf1 is Yes Tumors Disease.

Some of these tumors are about the size of a pea or a pinhead and some are only a little bigger than this period . They might resemble a skin tag or a pimple. Those are called cutaneous neurofibromas, and they grow anywhere on the surface of the skin. They do not go away once they’re there, and there aren’t a lot of options to have them removed. But some of them are more of what you might think of as a traditional tumor - fleshy, large masses that grow and become deeply enmeshed in the nerves, and can become cancerous. These are called plexiform tumors and they can grow anywhere, including the face. I have three of them; I had surgeries to remove two of them that were not successful, and the third isn’t at the size or rate of growth where I’d be considering surgery yet, especially given that it’s on my neck and it would be a complicated surgery. Brain tumors are common with Nf1 too; I myself have a stable brain tumor, an optic glioma, so I need to get annual or biannual MRIs for... the rest of my life, essentially, to make sure that tumor doesn’t grow and new ones don’t appear.

Tumor growth is related to hormones, and one may go through periods of their life where no tumors grow, followed by periods of their life where tumors grow extremely frequently. I didn’t get a single neurofibroma until I was 22, but now that I’m in my mid-20s I have to check my body nearly daily to keep track of when and where new ones are showing up.

Nf1 affects every organ and system in the body and comes with a host of other symptoms, including bone deformities, learning disabilities, and problems with vision. It is the most common genetic disorder in humans, affecting about 1 in 2500 people. It’s autosomnal dominant, meaning a patient with Nf1 has a 50% chance of passing the condition onto their child, if their partner does not have Nf1. If their partner also has Nf1, it’s a 100% chance. For this reason, I have made the personal decision not to carry a child.

One of the main ways that Nf1 affects me (other than the tumors, duh, which absolutely suck) is scoliosis. I developed severe scoliosis at the age of 6 and needed to have back surgery at Johns Hopkins by the age of 8, to fuse my spine with metal rods and screws so it wouldn’t continue to curve. I then had surgery to fuse additional vertebrae at age 12, and a surgery at 22 to replace hardware that had cracked. I’m fused T2-T12, all but one of my thoracic vertabrae, so half of my spine does not bend. I physically cannot slouch. I set off metal detectors everywhere and I always get patted down by TSA. I have ramrod straight posture with no effort put in, which is sometimes a plus! Spinal fusions are common in Nf1 patients and the more vertebrae are fused, the less mobility you have. I am lucky that I am still able to twist and bend, though I can’t touch my toes and I’m supposed to squat instead of bending over.

Here’s a Johns Hopkins page where you can learn more :) Though please ask me any questions if you’re curious! I love getting to talk to people about my disorder and I don’t find questions offensive. Nf1 is a fascinating condition. And if you have nf1, please reach out to me! I’ve never had a friend with my disorder and it’s an unimaginably lonely feeling

#Nf1 #neurofibromitosis

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morinokunikara · 5 years

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Introducing the NFCord!!

Happy NF awareness month everyone!! I’ve decided to celebrate by creating a server for people with NF, be it NF1 or NF2!! This is a server to meet, connect with, and get to know others with NF, since we seem to be so few and far between and it can be rough feeling alone and like you don’t have a community.

Join here!!

Please note that this server is ONLY for people with NF!! Make sure to read the rules and post an intro!! Also, feel free to (please) spread this, even if you don’t have NF!!

#neurofibromatosis #nf1 #nf2 #neurofibromitosis type 1 #neurofibromitosis type 2

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nealersegs918 · 4 years

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Life update::

Hwy everyone. I haven’t been very active in the past few months/year, but I just wanted to give you all a little life update.

In mid-late August I started having some pain in my left leg/thigh. Since I work in a warehouse, I thought I just pulled something and just figured to let it be. Well the pain did not go away and in late September/Early October I started noticing there was some swelling so I decided to go to urgent care.

Urgent care immediately told me I had to get to the ER because they thought I might have a blood clot. So I went to the ER where they performed some blood work and a CT scan.

The ER doctors came back and told me that I had a mass in my upper thigh and that there was a possibility that the mass was cancerous. They then set me up an appointment with a general surgeon.

Due to having been previously diagnosed as having possible Neurofibromitosis type 1, the general surgeon sent me to a specialist.

I’ve had an mri, a biopsy, and a pet scan and those have revealed that the mass is a malignant tumor(a cancerous tumor)

I’ll have to go through a few weeks of radiation therapy followed by surgery. Thankfully at this time chemotherapy isn’t going to be necessary.

It’s been a lot to deal with both physically and mentally but I’m keeping on keeping on.

I hope everyone is well 💕💕

-D

#personal #text post #cancer #medical #long post #crosbyfan87 #nealersegs918

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stecelebrant · 5 years

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#steweddings #Sensory Celebrant Wedding Ceremony..... With my Celebrant work I have the opportunity to meet some amazing & inspirational couples in my time, but some couples who share their ‘Life/Love Stories’ with you can leave an imprint on your heart 💔 this couple on Saturday done exactly that....along with a few tears. Let me introduce to you Miss Jessica Cook & her fiancé Mr Daniel Everett. Unfortunately Jessica has a very rare condition called NF2 (neurofibromitosis) which is a degenerative condition which produces hundreds of benign tumours on the nervous system throughout her body. In Jessica’s case, this has now left her with hearing lost & partially sighted amongst other serious complications. Hearing her journey & what this marriage means to them both, it made me more eager to create a ceremony that only dreams are made off. Given Jessica’s lost of hearing & sight we had to be very creative by finding other ways of communicating this script to the happy couple on the big day. Through vibrations, interpreters, lip reading, hand signals, with have the all the tools we need to give Jessica the wedding she has always dream off plus with the love of her life before her health deteriorate further. Take a minute to read her story and the organisation she set up to support others in the same situation. Jessica has accomplished so much with her charity work, that she will be receiving her 2nd award from the Queen this week. http://chedistonandlinstead.onesuffolk.net/news/view/215 https://www.facebook.com/canyouhearus/ (at STE Independent Celebrant & Events) https://www.instagram.com/stecelebrantevents/p/BxZoTzbAmOa/?igshid=svnhm0ex3d4k

#steweddings #sensory

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