r/neurofibromatosis

Hey guys! I'm always responding to people here, but never ask questions myself. I have to have a breast biopsy and my NF doctor recommends stopping my Koselugo a week before and after the biopsy to be safe. It'll be a day less [beforehand], since I was on a wait list and JUST got a call there was a cancellation, so the appointment was pushed up.

I'm really paranoid taking a break from Koselugo. I'm actually doing extremely well on it. Better than I have in a long time. Has anybody taken a break or gone off the med and done okay? I'm usually pretty well educated about these things. I always hear the good and bad. But, having to be off the med for 2 weeks is freaking me out a bit. I'm really worried I'm just going to backtrack and lose tons of progress.

Just got my consultation done on Tuesday to discuss my tumors the one in my spinal cord is in extremely dangerous spot because if it keeps growing it will effect my breathing/ability to walk, but also it would-be extremely dangerous to remove with risk of paralyzation. (The doctor also said that where this tumor is also extremely uncommon) So at my next appointment on June 11th they’re gonna do an MRI to check my spinal cord again, and doing a MRI scan of my spine too, and then later that day talk with the surgeon to see what the next steps are. But hey if the worse case scenario happens i’ll have front row parking everywhere.

Hey everyone I have this lump on the inside of my left buttcheek and it's weird sometimes it becomes really small and I can barley feel it but others times it becomes huge and it hurts to sit could this be related to nf1

Hi everyone, I recently started taking Koselugo and one of the first side effects I experienced was a rash/breakout on my face. I wanted to ask if anyone else is taking it or has taken it before: how has your experience been? Did you have any side effects at the beginning? If so, how did you manage them? Also, were the side effects only intense at the beginning, or did they stay that way over time? I’d really appreciate hearing your experiences or any advice. Thank you 🙏

Please note I do not need medical advice. I need support and positive stories right now

Today has been a bit of an emotional rollercoaster and I think I’m just looking for some reassurance from people who have been in similar shoes.

My son has NF1 and has faced many challenges since birth as a result. recent imaging showed changes in a plexiform neurofibroma that raised concern for possible MPNST. We were initially told the PET was reassuring, but a few hours later the doctor called to tell us the wrong report had been reviewed, and the actual PET report mentions moderate increased avidity “concerning for MPNST.”

We are now discussing biopsy and next steps with his team.

I know “concerning for” does not mean confirmed, and I also know NF tumours can sometimes behave in messy and unpredictable ways without it being malignant. Right now I think I’m just hoping to hear from families who have had scary MRI/PET findings, concerning uptake, biopsies, etc that did NOT end up being MPNST.

I’m not looking for false reassurance, just real experiences while we sit in the uncertainty and wait for the next step.

He’s handling all of this far better than I am. His main concern was whether he’ll still make T-ball on Friday because he’s just so tired of pain and missing out on normal life.

Thank you ❤️

Ciao a tutti sono affetto da NF1 ; ho qualche tatuaggio in posti dove non vi sono fibromi o macchie ; volevo sapere se qualcuno ha fatto tatuaggi di dimensioni normali o sopra i fibromi tranquillamente

im 17f, and most of my neurofibromas are scattered across my chest+back where i can hide them, but some are on my arms and legs where they can also be hidden

i have two smallish neurofibromas on my jaw that are very noticeable, and hair even grows on them that i occasionally shave. There are also lots of neurofibromas and cafe au lait spots on my neck that are basically impossible to hide.

recently i noticed a small bump on my chin that i am sure is a neurofibroma, and im so scared because my face is the only body part where i barely have any tumours (aside from the ones on my jaw) and where i actually feel pretty.

i dont know if this is a selfish or insensitive thing to say but i am terrified to have more tumours form on my face and i dont know what to do.

Is a real cure even close or are we still fucked I don’t want ‘treatment’ I want this shit eradicated from my body completely. Feels like the researchers are just sitting around with their dicks in their hands jerking each other off n stroking their egos while the rest of us rot.

Happy World Neurofibromatosis Day fellow warriors. How are you all celebrating?

I celebrated with getting a vitamin iv and having self care time

21F and think I might have NF2 but I’m scared I’m just being dramatic.

I had a peripheral Schwannoma removed in 2024 from around my collarbone area when I was 19.

When pathology got back and said it was a Schwannoma my doctors didn’t tell me anything about it, they had never even seen one until I came along.

I ended up looking it up when I got home and through that learned about NF2. The symptoms set off alarm bells for me, the biggest one being juvenile cataracts.

I was diagnosed at 16 with juvenile cataracts and it was a shock to me and my family. My eyes are pretty bad in general and continue to worsen at a pretty fast rate, my left eye is a lot worse.

I chose to brush it all off but as time goes on I keep having more issues pop up. I have a small lump in my forearm (I did get an ultrasound on it but they said it was too small at the time to see anything) it has grown a good bit since then.

A month ago I found another lump in the same area where my last Schwannoma was. I’m constantly tired and suffer from migraines, dizziness, and nausea on a regular basis. I just never feel good.

As of a few weeks ago I started having these moment where it felt like my left leg was going numb. The tingling radiated up my spine and walking felt unsteady.

I haven’t been able to get into the doctor yet due to a lot, I’m planning on going as soon as possible but I’m still nervous. Mostly because I’m scared of actually getting answers because that makes it more real. Even if I don’t have NF2 there is still something wrong with me.

Any input would be appreciated :)

I’m Patrick 56 years old from Chicago Illinois USA and I have NF1 and Congenital Pseudarthrosis of the left tibia.

Hi all! I'll start by saying that I have consulted with my doctors about this, but they did not have much information for me, so I thought I'd check here. I’m 28 years old and live in the US. I was diagnosed with NF1 when I was three months old. As expected, it's progressed with age. I have one plexiform tumor, and many a cutaneous tumor. I've had a surgery to remove around 9 tumors, and have recently been paying a lot of attention to my nascent fibromas, of which there are many. Within this year, I have completely changed the way that I eat, and I follow a strict anti-inflammatory, low protein, vegan diet, and I've noticed a lot of improvements with my overall health. Here's where I'm feeling stuck and nervous - I have recently been heavily reevaluating my medication regimens. I (like many of you) have a long history of trialing different medicines from psych meds to pain meds. Currently, my biggest question and concern is - how are these medicines interacting with my NF1? What (if anything) can I do to mitigate the impact of the influence that these have on my body/tumors? I recently got bloodwork done and my vitamin D and B12 were extremely, extremely low, despite me spending time in the sun (with protection), and eating B12 where I can. She would like me to supplement both of those with vitamins, but I am scared that it will influence my body in a negative way, since I know that this is such a complex and highly variable condition and that we metabolize things so differently. If it is of interest to anyone, my current med list is lamictal, pregabalin, propranolol, xanax, and vyvanse. I have not found much well founded research about the ways that these things may impact us, and my concern is about activation of m-TOR, IGF-1 and so on and so forth. Thanks so much for reading this, and if you have made it this far, my wish is for each of us to continue experience the advancements being made in NF research. Hope is a discipline, and when some of us can't hold it, I trust that others can.

Hi! 24(F) and just recently had a baby. Ive had cafe au lait spots all over my left leg, from my lower back all the way down to my ankle. They basically cover the whole back of my left leg and I’ve had it since birth. Only recently have I known about the possibility of NF1. I don’t think I have other symptoms (except short stature), but of course now that I have a baby I’m wondering if the chances of me having NF1 is high and just went undiagnosed? And should I bring it up to my doctor?