Long shot, but does anyone here have a child with Neurofibromatosis?

[Dustyblue]

Hello all, asking from Australia.

DS5 was diagnosed last year (via genetic screen and paed neurologist) with NF1. The assessment process is very long. We're waiting on more genetic assays to be done for us parents and DS again, plus a learning assessment. He's seen a paed opthamologist, and no optic gliomas were detected, so that's good.

Meanwhile, he's been seeing an OT, a Physio and a Podiatrist about his various issues. He starts primary school in Feb; I won't detail all my fears about that.

There are support groups online, but the main ones I've found have been run by people who have NF themselves. Now, there's a wealth of info there, but also lots of unhelpful things such as:

• I didn't know I had NF until I was 44, when surgeons spent 12 hours removing a tumour wrapped around my heart (Cheers, taa for that)

• I have NF but my children don't, you need to stick to the following diet plan to stop him developing tumours (Ahem, ok)

I'm a tad worn down with it all. Any experience here at all?

Thanks in advance

Thank you so much that would be kind of you .

I am not exactly sure how a medical paper on microsurgical techniques could help you understand the terminology around neuroma, schwannoma, neurofibroma and clarify your doubts around the probability of having Nf1 or Nf2 @Whitby1234

Acoustic neuroma is an older term. It was the one originally used when the tumour in the ear was first discovered more than a century ago but from a pathology point of view is not a neuroma. The appropriate term is Vestibular Schwannoma. However, both terms are correct and used in papers and conferences.

A vestibular Schwannoma or a acoustic neuroma is a type of neurofibroma, so that term is correct as well, since a neurofibroma a tumour formed on a nerve cell sheath.

The nerves have a coating (think of it as the cable to charge your phone, there is an external plastic cover, and the wires are inside. In the nerve, the outer layer is called the nerve sheath), and that nerve sheath is made of mainly Schwann cell, reason why when you develop a tumour on the nerve sheath, it is called a Schwannoma,

So in a way neurofibroma is the family name of all tumours growing on nerve sheath, and the acoustic neuroma or Vestibular Schwannoma is the exact types of nerve sheath tumour.

To make it easier, think about bone tumour, the family name of all tumours originating in the bone (and
neurofibroma is the family name for the tumours of the nerve sheath) and osteochondroma is a type of bone tumour (as is an acoustic neuroma).

So , everyone is right when they use these terms with you, it is just a matter if they are using a general or specific term.

Now, moving to NF2 or even nf1. Both belong to a family of disorders called neurofibromatoses (with an E, not a typo)
If you have a genetic mutation in the neurofibromin gene or the merlin gene, you have either neurofibromatosis type 1 or type 2. These genetic disorders make you very prone to tumours and especially neurofibromas. We get them at a younger age.

You can have an acoustic neuroma and NOT have any type of NF. Some genetic mutations make you more prone to acoustic neuroma, but you can have it without any genetic disorder. Here are a few examples to make it easier to understand.

There are genetic mutations that make you prone to Breast cancer (BRCA1) but you can have breast cancer without this mutation. In the same way , if you have Lynch syndrome, you are very prone to colon cancer, but many have colon cancer without having Lynch syndrome.

The NF diseases come with a wide range of manifestations and complications. NF2 will have very high levels of acoustic neuroma, usually bilateral (both ears) and usually at an early age, adolescence, early adulthood, whereas in the NON_NF population, acoustic neuroma develops later.

A single acoustic neuroma doesn’t mean you have NF. If the doctors had doubts, they would have done the test. If you can’t shake off the doubt, ask for the test.

Thankyou so much. They did think it was a stand alone tumour.

It was 10 years ago. By now, if you had Nf, you would have way more symptoms. I wouldn't worry. About having Nf, or the terms doctors use.
Doctors are very bad at explaining things. They will throw a term and forget about it, and we will lose sleep over it.
Did you lose your hearing on that side @Whitby1234

@TonywithNF2 , you and I have different diseases, you have NF2, I have NF1, so I would assume our libraries to differ significantly.
My focus of interest is clinical utility. What in the research I can apply to myself to have the healthiest, longest life with minimal impact from the typical NF manifestations, both primary (neurofibromas) and secondary (cancers, dementia, osteopenia).
So the papers I tend to collect are about increasing NF1 gene expression to increase circulating neurofibromin (so urolithin. for example) and this includes what will negatively affect it as well (high fats), to DNA repair, mTOR reduction , normalising bone cell turnover (low protein), and so on. A lot of preventative actions,

A quite extensive topic obviously.

So, to get back to your offer of sharing knowledge, what do you have that could be of clinical utility?

Professional text books more than happy to pass copies on

Go for it!
I will PM you my email.

Yes I did lose my hearing. I also suffered every complication know following the surgery. I had swelling in the brain which caused a stroke. The medication made me a diabetic which I still am. I had a full facial paralysis which made my eye wide open. I have since had many surgeries on my eye.
I have since suffered mini strokes.
basically, my life changed for ever 10 years ago.

I am so sorry to read that. It is a little known tumour with catastrophic consequences.

Thanks to all for furthering this thread.