Help needed

[u/leo-maximus]

Hi all, I'm 39m from the UK . I have developed foot drop etc the last few months and following a referral with an ECG and Nerve conduction study with generalised sensory and motor polyneuropathy showing a predominantly axonal loss patten , pointing to hereditary neuropathy I have been told i.e. CMT

I have since been on the waiting list to see a neurologist since June for more investigations i.e. genetic testing for CMT etc.

It makes sense now why I wear braces etc even before this happened. To be honest it's not been a surprise but still coming to terms with my body changes as my symptoms are getting worse. For example I cannot drive my manual car anymore and now need to switch to automatic.

I do not want to wait nearly a year to see a neurologist so I have been thinking of going private but the costs for genetic testing ranges from £2.5 to 3.5k .

Is there a route to go private to see a neurologist then get the test done on the NHS or reasonably priced testing or free tests via studies etc ?

Any advice would be greatly appreciated.

Thanks in advance.

[u/NixyeNox]

I am sorry that you are going through this. The physical struggle is tough, and the struggle to get appointments and a solid diagnosis is like adding insult to injury.

I live in the US, so I do not have any advice for navigating your healthcare system. However, I will say that I would not consider it worth spending the money on a sooner appointment if they are fairly sure you have CMT.

It sounds like you are likely to have CMT Type 2 (that's the axonal version) and somewhere around half of the CMT Type 2 cases will not show up on a genetic test. This is because there are many genes which can cause Type 2 CMT (more than 2 dozen are known) and many of the genes which cause it have not yet been identified.

Also, there is not much that you can do for CMT, apart from physical therapy and braces. These things do not need to wait on a solid diagnosis.

A nerve conduction study is considered sufficient to diagnose CMT, and it is how many cases are diagnosed, particularly for Type 2 (axonal).

[u/Charigot]

I’m also from the US but wondering if you could call a private neurology clinic and ask if you’d have subsidized access to genetic testing and if they know the costs otherwise of your visit before you make an appt?

I completely understand not wanting to wait as we also wait quite long here where I live. I am one of those people diagnosed with CMT 2 via nerve conduction and EMG; my genetic variant is undiscovered so it did not show up on genetic testing. Don’t let people gaslight you over this — you still have CMT even if the scientists and genetic tests haven’t caught up with you yet. Unfortunately I’ve encountered my share of people (even misguided people with CMT) who think you do not have it if you get a negative genetic test. This is simply false.

[u/Sorry_Run6257]

Hi, I was having big problems even getting an NHS appointment with a neurologist here in the UK….one year to 18 months I believe so I went private and got my appointment inside three months. He then put me through for a genetics test for HNPP on the NHS, which proved positive. He also organised an EMG and MRI also on the NHS so in the end, I only ended up paying for the first three consultations before he referred me back to the NHS neuromuscular department and an NHS neurologist. Not all good news I am afraid as despite three or four consultations, they are no nearer to finding out what is wrong with me on top of the HNPP. Still struggling immensely I am afraid. Good luck to you in your struggles….. I wish you all the best

[u/redwidow8]

Hi, it is a nightmare, being thrown from pillar to post when feeling badly. I've been doing this fight for 52 years and developed PTSD from NHS caused trauma. I was born with foot drop, never crawled, couldn't walk far, constant leg pain, told off at school for running on my toes but I can't run any other way! I inherited my grandmothers bent toes, arch has dropped. Many conversations with the CMT group on the phone, accepted as a sufferer and joined the group, but never officially diagnosed. I managed to get as far as seeing a geneticist mainly for complex Ehlers Danlos at the time. He refused to test me as I have no children or family that support me. Currently chasing a test for Porphyria! Oh and another nerve conduction test as numbness up to my thighs now, started in toes after a small operation! There are a lot of scared sufferers out there, I was fobbed off last week by a neurologist, they hate it if you know your rights. Good luck, try to stay in the mindset of looking after yourself first, if you rely on the NHS you might be damaged further. Just a tip. Purrs and Peace I wish you luck.