Neurofibromatosis Awareness Month

[NF1Awareness]

Have you ever heard of the genetic condition Neurofibromatosis? No? Well, neither had anyone in my family until my 13yr old son was diagnosed with Neurofibromatosis Type 1 (NF1) earlier last year. The subtle signs were there, but our lack of knowledge of the condition meant a diagnosis came many years later than it should have.

Neurofibromatosis (NF) is a genetic disorder that causes tumours to grow on nerves throughout the body. These tumours are usually non-cancerous but can sometimes cause health problems. There’s no cure, but symptoms can be managed with monitoring, medication, or surgery if needed.

Neurofibromatosis Awareness Month is in May each year.

Please take a few minutes to read the information I have included in the photos, as the aim is to raise awareness of a condition that many of us are unaware of. The signs can be (and have been) easily missed by medical professionals, so it’s important that as many people as possible know about it (but these experiences are becoming less and less common now, thankfully).

Proud of you son, and your fellow NF warriors.

Thank you 💙💚

p.s I have name changed for this post, as I have added this post to my own social media pages, and I wish to respect my son’s privacy.

Every day’s a school day! Thank you for teaching and sharing, OP. Kudos to your warrior son. It takes the courage of a lion to face such a big diagnosis. I imagine too that, despite the difficulty of learning about this diagnosis and living with it, it’s a relief to have that diagnosis. What’s the treatment side like? How is it managed ?

Thank you for your lovely message. Every person with NF experiences it differently. My son has lesions in his brain and spine (we don’t know about the other parts of his body, as they have only scanned these two parts), but these aren’t of concern to the medical team (thankfully).

He has been a star! He has had to have numerous MRIs, which isn’t the most enjoyable experience for a lot of people (but he quite enjoyed it 😁!).

He has gradually come to accept his diagnosis, which hasn’t been easy. His future is full of lots of unknowns, but we are grateful that he doesn’t have any concerning health issues at this present time. If any new alarming symptoms appear, he will have further investigations and he will receive the necessary treatment.

I often find that children like your brave son become exemplary role models for people of all ages, showing us how to seize the day and spend as little time as possible courting anxiety. He’s been to the mountain top and he’s met the challenges head on and will know how to face all of life’s obstacles with a hope and an optimism that takes decades for most people to cultivate, if they’re ever fortunate enough to learn how to do this.

I know that your journey is such a difficult one. From the moment they’re born, we’re thrust into worrying about our children. It’s part of the blessing of being a parent! 😆 But there’s a gift in everything, even in tough times. Your son’s incredible bravery allows you to draw fortitude from his well.

Good health, peace in his day, and a loving, excellent life for your brave and wonderful boy, OP. ❤️

I have heard of it because I work in a medical field, but I admit, I was unaware of many of the symptoms listed in your pics. Thank you for raising awareness of it. You are a fantastic advocate for your son.

I also watch a show called skin A&E, and they've have had people on there having larger skin tumours removed. Mainly larger ones which sit under a bra strap, a belt etc and impede day to day activities. I assume smaller ones are deemed as cosmetic, but surely if they are affecting day to day life, they should be removed on the NHS? Do you know if this is the case?

DorisTheFinkasaurus, thank you 🥰. You made me well up!

As you so rightly said, these wonderful children become wonderful role models. I had to have an MRI recently, and I was contemplating cancelling it! I was so nervous. Then I remembered that my son has had to have MRIs lasting up to an hour (mine was due to be 20-30mins), and I figured I should just stop fretting and just get on with it! If my son can put up with it, then so shall I!

It helped me appreciate how it was for him, and others in his situation.

I have. My friend was born with this condition and had the rare malformation of tibia which was associated with it
she had many operations to stabilise it and wore a built up shoe and afo
she lived a full and active life and died from an unrelated cause.

just remembered the malformation was called Pseudarthrosis of tibia

uncomfortablydumb60 your friend, I do not doubt, was a true warrior and an inspiration to many. It always fills me with hope when I hear stories of a life well lived, despite living with such conditions.

To give you her an example of her bubbly nature and determined spirit, she actually broke her affected leg in a keep fit class.. at which point her( and mine) Orthopaedic surgeon put his head in his hands!
We actually met in Hospital( I have CP)

I can picture the surgeon in despair at the news 🥰.

My sister passed away at the age of 29yrs (20 yrs ago). She had a physical disability, and numerous health issues. Despite my parents being told she would only live to the age of 16yrs, she defied them. She lived independently for a few years prior to her passing, and enjoyed life to the best of her abilities.

Your friend reminds me so much of her. My sister inspired myself and all those who knew her. I am sometimes embarrassed at how I struggle with certain aspects of life, when I think of how my sister, my son and other loved ones cope/d in the face of adversity.

Oh I'm so sorry to hear of your sister. How tragic.
When I was diagnosed with CP, my parents were told I would probably never walk
At 21/2 I took to my feet and metaphorically put 2 fingers up!
I have adult sons. I was told I'd struggle to manage, I never did, I just had to find the right equipment.
At 60, I'm still mobile but use a walker( which helps me carry shopping too)
I bounce along as it's just like pushing a pram without the baby!

My was-foster sister has NF2.

NF2 is a bit "better" because symptoms don't usually start until adulthood, but still tough.
So I know a lot about that, living with that.
Best wishes to you & your family, OP. x

Thank you.

I hope the lady you mentioned is well, and the NF2 is mild. I hadn’t realised that NF2 symptoms don’t usually start until adulthood.

Wishing you all the best also.

I know someone who's son has NF1 but really quite badly, to the point he is considering amputation. We met her at GOSH because my son also has a (different) rare chronic illness.

I hope your son continues to stay well, OP.

JDM625 apologies, I somehow missed your comment. Thank you for your kind words. We try our best as parents, but it’s not always easy!

I enjoy similar programmes to you, it would appear! I am a keen fan of Dr Pimple Popper, and this is where I recall hearing the condition mentioned previously, but never would have linked it with my son, as he didn’t have the growths on his face/body (which I naively thought everyone had with NF).

That’s a good question re: whether or not the removal of the growths is a service the NHS provide. I’ve just had a look on the NF Facebook group, and there appears to be a lot of battles to have minor growths removed (if they are deemed as cosmetic). However, this is when patients have had to explain to their GP that the growths are causing them mental health issues. I’m not sure how many have succeeded with these battles, but they deserve to have the NHS remove them.

My almost 9 y/o son has NF1. His main issues are learning disabilities and accelerated/uneven growth in one leg. He wears a shoe raise and will likely need surgery to stunt growth in the longer leg near puberty, which is often early i NF1 kids. He's monitored twice a year for optic gliomas but all results have been clear so far.

It really does affect people in vastly different ways and I try not to look too far into the future. I hope you son continues to do well xxx

Dustyblue

Sending love and hugs to you and your family (I won’t be offended if you decline the hugs, as I know not everyone is a fan!).

Your son sounds inspirational, and a true NF warrior. I hope any future surgery is a success for him.

As you say, it’s hard not to think about what their futures look like. But I know we must enjoy today, and not worry about tomorrow.

Hi, well done for spreading awareness!

My son doesn’t have NF1, but has a condition usually linked to it - an Optic Nerve Glioma. Diagnosed aged 5 and then went on to have chemotherapy a year later.

Yesterday he finished school aged 16. He’s doing really well, has a slight visual impairment and some learning difficulties but otherwise you wouldn’t know he had anything wrong.

Best wishes to you all x

Not mild, unfortunately, but she's age 57 now which is 20 yrs older than her siblings or mother made (all had NF2). There are plenty of people in her life who love her & help her out, too. x

Also lucked out in having almost zero symptoms until age 29.

My friend had NF1 and it’s been a nightmare for her to try and get correct medical attention for her, the consultants she sees for her many problems have either never heard of it or don’t appreciate how serious it can be .

she still has yet to see a specialist and she’s now in her mid fifties.

she’s got learning disabilities as well, and her problems are put down to depression and anxiety. Shes utterly frustrated and heartbroken at not being taken seriously

love to all on this thread struggling with this condition 💐

There was a really inspirational man on GMB the other day with NF1 who has facial tumours. He’s written a book to help others accept themselves for who they are.

He was brilliant to listen to.

I know about the condition as ds has cafe au lait spots but another neurological condition and this was discussed during the investigation process.

I hope your son is doing well.

My DH and eldest DD have NF1, best wishes to your son 🙂

JohnnyLuLus

I am sorry to hear this about your friend’s son. I wish him all the best. It just shows how cruel this condition can be.

I’m not sure of his age, but my Dad (aged 79yrs old) recently had an above knee amputation (due to vascular issues). He is, to our surprise, coping really well. He is almost fully independent with self care, and is often seen whizzing around in his electric wheelchair!

familyissues12345 Congratulations to your son! I assume he is taking exams, so all the best with those (apologies if I am wrong). Sending him best wishes.

It was initially thought that my son also had a OPG, and I remember reading up on it. It didn’t make for easy reading. Fortunately, it transpires the growth isn’t an OPG, but just a normal growth associated with NF. I have so much respect for those who have to endure treatments like your son had to (I recall reading that chemo can be up to 18 months).

blackheartsgirl I had goosebumps reading your post. I am so sorry to hear about your friend. I wonder why the appointment with the specialists is taking so long?

It’s scary how some medical experts have little to no knowledge of NF, considering it has the potential to cause such life changing symptoms.

I hope and pray your friend is given the right care and support she absolutely deserves. You sound like an amazing friend.