@Dustyblue rare diseases' support groups are usually run by patients themselves because rare diseases are neglected by the medical establishment and Nf1 is no exception.
Patients with rare diseases have no choice but to become expert in their disease because most doctors will know nothing about it or the best way to care for someone with that disease.
Nf1 specialists push nf1 patients to educate themselves and advocate for themselves. So don't be too quick in dismissing the patient-led online groups since they are probably the best source of recent information.
These online groups will be able to teach you how to download medical books for free or how to bypass the paywall on medical papers on pubmet. So give them a chance before judging them. I am not talking here about "Facebook" groups or similar which are trash , but more groups like Inspire.
Australia' s Nf1 foundations are CTF and flicker of hope in Melbourne, both heavily centred on fundraising and very thin on science. You are better off using the American CTF site www.ctf.org or the NF Network www.nfnetwork.org , both have webinars that cover several topics. They also organise masterclasses and medical symposium. There is one next week on paediatric management ctfeurope.org/research/masterclasses-in-nf you can enrol for free. Just type " none" on the enrolment form when it asks for affiliation, institution and stuff like that. A couple of webinar from NF Network you should watch from their library www.nfnetwork.org/resources/webinars/ is :
- this one From the director of the biggest NF1 clinic in the US
and this one even if it is older
Australia is quite behind in the management and care of nf1, especially on the prevention front. It is still vey much reactive, which is a pity given that they are steps and drugs one can take to minimise the severity of the manifestations.
This brings me to your comment on diet and it shows that you don't have an understanding yet about the disease. The Nf1 gene produces a protein called neurofibromin which regulates the life cycle of the cell.
When not enough neurofibromin is circulating because the gene is mutated, several processes of the life cycle of the cell are malfunctioning, be it cell proliferation, migration, and even programmed death. Neurofibromin also impacts the metabolism and people with nf1 have an abnormal lipid metabolism , an abnormal glucose metabolism, higher inflammation and higher oxidation.
A diet that take these characteristics into consideration will help the cellular pathways affected.
It has been known for more than a decade that inflammation is needed for tumour initiation. An anti-inflammatory diet is therefor recommended.
There is a drug that can reduce the amount of neurofibromas one will get. It is called Ketotifen and it is a very safe , very cheap, very old allergy drug that regulates mast cells. Neurofibromas are mainly made of mast cells. Ketotifen in the pill format is not available in Australia as a normal prescription but can be ordered from Japan for less than $15 or made in Australia in a compounding pharmacy at roughly $100
What you describe for your son's leg is called long bone dysplasia and is far from rare in nf1. Again it has to do with the protein neurofibromin that lays a significant role in bone homeostasis and bone development (through a signal transduction pathway called Ras/MAPK) .
They will be many challenges and you will often be faced with medical apathy, treating Nf1 the way it was treated in the 1980s.
Nf1's manifestations are age-related, meaning they have a specific age of onset. At your son's age, the biggest one is the optic pathway glioma (OPG)
Has your son had an head MRI to check for the absence/presence of optic glioma ? Not all glioma are symptomatic and depending on the location, it can be missed with an eye observation. The role of systematic MRI screening for OPGs in children with NF1 has been widely discussed in the literature and is controversial and most countries still apply 1997 guidelines which rule against . However recent studies have shown that chiasmatic and postchiasmatic OPGs carried the highest risk for progression and vision loss and that early identification with MRI screening in asymptomatic cases may lead to improved visual outcomes.
If you are not familiar with these term, the chiasm is the part of the brain where the optic nerves cross. A child with Nf1 can develop an OPG on the optic nerve before the chiasm or after. Those after can be missed in an eye examination.
A good balance would be to have 1 MRI to rule out post-chiasmatic OPG
Nf1 can be managed . The gene mutation itself is not enough to explain what causes problems and this is why two individuals with the exact same mutation ,will have dramatically different outcome. The Pearson twins (vimeo.com/315774991) , with identical DNA and identical NF1 mutation are a good example. So if it isn't in the gene alone, what are these gene modifiers and can they be influenced? The immune system plays a big role, as does some of the other metabolic features I was mentioning before.
I would suggest you spend some time on the US sites I linked for education and use CTF Australia for this support in navigating the Australian system.
You need to know that for most issues, there are options.
As a example, let me cite hypotonia and wetness, clumsiness. Because of the abnormal lipid metabolism, dietary fats are stored in muscles and not fat cells, resulting in poor muscle tone but taking L-Carnitine as shown by the studies of Aaron Schinder in Australia, will rescue this myopathy. Ideally however , since people with NF1 do not metabolise fat properly, it would be recommended to avoid greasy, fatty and fried food. Hence the diet aspect being important on many fronts.
Just an example amongst many to show that there is more to the NF1 story than you suspect.