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.

@Kaiken

All the BIG names in the NF1 world insist on seeing specialised ophthalmologists, ideally neuro-ophthalmologists and he wants to send us to Specsavers.

That simply isn't true. DS sees a neuro-ophthalmologist every 6 months. Specsavers? Absolutely not.

You're telling people you know better than a Harvard trained expert. Think about how that comes across.

I remember you now. I had to leave that thread because you upset me so much. Thanks for caring so deeply about the NF community. Well done.

Hi there- I believe there is some evidence on this, but at the end of the day no diet can change your genes. I wish that was the case!

That said- we have several appointments coming up at the Royal Children's in Melbourne, and one is with a paediatric dietician that we've been waiting on for ages! I'm looking forward to that. If dietary changes can make any positive difference, I'll be keen to try them.

We've also got a follow up with his neuro-psych & orthopaedic surgeon on the same day! It's better to make a day of it- this way he only misses one day of school.

Although, I wouldn't be surprised if the ortho surgeon wants a new xray done. Kids grow fast! Also, DS had a CT scan done locally on his pronated foot- I'm keen to ask the surgeon his opinion on those images.

Onward and upward as they say😍

@NoisyBiscuit the diet topic is highly complex.
NF1 affects all body systems and the onset of manifestations varies greatly. The most severe ones occur in utero in the first weeks of gestations and we have literature on how maternal diet influences some of these such as Optic pathway glioma (OPG) for example https://nfcenter.wustl.edu/maternal-obesogenic-diet-operates-at-the-tumor-cell-of-origin-to-increase-incidence-and-decrease-latency-of-nf1-optic-pathway-glioma/ or how after birth Gut Bacteroides drive OPG progression https://pubmed.ncbi.nlm.nih.gov/39868555/

Diet will not change genes, but in the case of NF1 genes are not enough for the onset of manifestations including the dreaded cutaneous neurofibromas as we know the mutation is insufficient to cause tumor formation https://www.news-medical.net/news/20250225/Researchers-challenge-previous-understanding-of-tumor-growth-in-NF-1.aspx
I have posted in previous discussion about how an NF1 mutation alters the metabolism and put plenty of references for each.

Not all manifestations are impacted by diet but for many, lifestyle alterations can be tried to minimise the number and severity of manifestations.
How old is the family member that has been diagnosed?

Hi @Kaiken thank you for your detailed response. I really appreciate it.

My family member has just turned 5 years old. There hasn’t been any NF1 in the family so we are a little side swiped by it all x x x

Any help you can provide is so welcome

It is impossible to explain or outline the complexity of NF1 in a single post or even a dozen. Therefor, I am going to be very simplistic and direct you to resources.
First of all, NF1 manifestations are age-related, meaning they are a typical age of onset. I attach two pictures that represent those.
The most severe manifestions that can greatly affect quality of life start in utero and manifest themselves early in life. These are:

1. Bone dysplasia, in other words malformation of the long bones or mi ssing sphenoid wing bone in the skull. It would be evident by now, so if he doesn't have those at the age of 5, he will never have to worry about those.
2. plexiform neurofibroma (PN), one is born with them, sometimes they remain hidden deep inside the body, but generally they are visible by the age of 5 or you can feel them by touch. Again, one is born with them, if he doesn't have them, he will never worry about them
3. Optic pathway glioma . 20% of kids will develop a tumour on the optic pathway track before the age of 6. The Nf1 glioma is very different from the same glioma in non nf1 kids. It never becomes cancerous and usually will spontaneously resolve by adolescence. It will treatment if vision is starting to become affected. If not, only surveillance is done.

At 5, he is still at risk of a glioma, they are almost never detected after the age of 6.

What scares most people are the cutaneous neurofibromas. Understandably. There are drugs tested for those, even a gel to apply and shrink them. Diet is being studied as well. There is a diet trial which showed positive results. https://pmc.ncbi.nlm.nih.gov/articles/PMC5537897/ and the pictures are quite stunning. Minnesota university is doing a variation of that one.

Why does diet work? Inflammation is needed for tumour initiation. The cellular microenvironment plays a key role combined with other factors of course, but just the mutation, even the second hit in the functioning copy is not enough for a neurofibroma.
Here you can start your learning journey https://www.ctf.org and https://www.nfnetwork.org
Both sites are huge and dense with science. They have a lot of presentations and webinars on their YouTube channel.

Other forums have active discussions. Check Inspire.com and Reddit.com . Search "neurofibromatosis" to get to the group and you can join.
Facebook is hit and miss, mostly miss. A lot of misinformation.

Changes in Nf1 occur at moments of big growth , so newborn-toddler and adolescence. That is when growth hormones peak, especially IGF-1 , so at 5 , your family member is at a sweet spot if he doesn't have the manifestations I cited above that start in utero. Then in adulthood, mutations accumulation or deficiencies in repair system can accelerate new manifestations.

There are so many trials and new compounds being tested. We have drugs for plexiform neurofibromas, drug for optic pathway glioma and a lot of promises for the other manifestations.

Many patients associations are doing great advocacy. Austria and France lead the way in having public health recognise all needs, including assistance for cognitive abilities. Other countries lack behind, but this is where patient advocates play a role.

An Nf1 diagnosis is a shock, but life can be normal and happy.

A million thank yous for taking the time to post this wealth of information ❤️

@NoisyBiscuit Nf1 is the most common genetic disorder yet there is very little when it comes to educational material for those affected or the parents of a child with Nf1.
We know the big lines on many manifestations. When, why and how they happen. Some, we are not sure yet, but for most, there are still things that can be done to mitigate the effects.

Take ADHD and school results. It turns out 25% of kids with nf1 have an auditory dysfunction, not in sound levels, but sounds processing, because of lower fiber density within the ascending auditory brainstem pathways. This means that for every word heard, kids will miss 40-50% of the letters and what one hears makes no sense, so after a while, you stop listening and attention plummets. However when the kid wears a special bluetooth earpiece and the teacher has a microphone around the neck, the hearing and attention is solved. https://pmc.ncbi.nlm.nih.gov/articles/pmid/34870681/ . Has it ever happened to you to be on a phone call, and the line is breaking up, and you hear fragments, it is impossible to stay on the line, it is not only difficult to hear, but unsettling. That is the reality for many kids with Nf1.

Like the example above, there is a more complex explanation that " it is genetic, nothing can be done" , it is not just the gene and things can be done for so many of our manifestations
This knowledge about auditory processing, something we have known since 2021 is not translated in care protocol. Kids are not tested at an audiology center for auditory processing, only the typical hearing test as babies. When kids are doing poorly in schools and attention is poor, they are again not tested for this, but medicated.

Nf1 affects all organs and body systems. And to come back to your previous questions about diet, several of these can be affected by it.
Take the muscular system. Nf1 affects the metabolism and people with nf1 have an abnormal fat metabolism that makes them store fat in muscles instead of fat cells. As a result of this, muscle quality is poor, people with nf1 are weaker and have more fatigue.

In this paper , they tested diet https://pmc.ncbi.nlm.nih.gov/articles/PMC7446925/ and you can see, that a low fat diet improved force, picture attached. Makes sense, fats are not processed normally, limit them , be better. The paper tested L-carnitine to normalise fat metabolism, and it did help, but not as much as low fat diet. There are concerns about growth pathways for carnitine so unless one is sure there are no tumours anywhere, caution is advised. I am not saying your nephew should be on a low fat diet, but limiting fried food, greasy food, fatty food such as chips and bacon might be something to discuss with his care team.

Nf1 is full of nuances. Understand them, and the mystery of progression isn't a mystery after all.