Possible MND diagnosis

[Fiona89]

Hello,

My partner is 29 and his father was diagnosed with MND 3 years ago, 2 other members of his family have passed away due to MND, and we’ve been told by a specialist that this is more than likely a genetic form of MND.

About 6 months ago, my partner began feeling stiffness in his right hand. He also had some numbness, tingling and swelling, his GP didn’t know what was causing it and referred him to a muscle specialist.

Since then he’s also been suffering from an aching jaw, neck and tongue, as well as a stiff/weak feeling in his right ankle. We’ve also noticed some muscle atrophy on the back of his right hand.

The muscle specialist suspected a trapped nerve in his neck and sent him for an mri scan.

He’s been back to the GP today to ask about his neck ache as it’s getting worse and he mentioned MND. She gave a very brief statement that yes she’d thought of that first time she’d seen him. But would wait until after the mri results to refer him to a neurologist.

I feel that this seems such a massive, scary suggestion from the GP but without any sympathy, support, planning. Is this right or should there be more support? Do we change GP?

I’d welcome any support or advice.

Thank you,

Fiona

[MNDConnect]

Dear Fiona,

I am very sorry to hear that your partner is displaying symptoms that are causing you to be concerned they could be due to Motor Neurone Disease.

Given his family history this must have been at the forefront of his mind when he went to his GP appointment, and then having the GP voice her concerns as well must have been very distressing for him.

As the GP seemed aware of your partners family history you would have expected that she would have asked if he would like a referral to a counsellor. However she may also want to be sure that your partners symptoms are not due to another cause before acting as if the diagnosis was a forgone conclusion.

If you partner is not confident that he will receive empathetic and caring support through the diagnostic progress and beyond then maybe he could ask to see a different GP at his next appointment.

It is really crucial that the GP provides consistent support especially if your partners is diagnosed in the future with MND as the GP is a pivotal support mechanism for anyone with MND, although unfortunately not every GP provides this essential support.

If you or your partner would like to talk about your concerns please do call us on the helpline, we are here for anyone affected by MND. Our number is 0808 802 6262

With kind regards
Jacqui Anderson
Senior MND Connect Adviser

[Fiona89]

Thank you.

I guess we were a little shocked that she went straight for the possibility of MND as he’s so young and he has such a variety of symptoms. Probably wishful thinking on our part that she’d suggest something else!

[Barry52]

Hi Fiona89,

I’m sorry to hear about your your partner. If the diagnosis is confirmed as familial MND then he will be offered a support team to manage the symptoms.

Best wishes,
Barry

[Fiona89]

He has now utterly convinced himself it’s MND and I don’t know how best to help him.

He currently has the following symptoms:
Stiffness in his right hand which is worse after using his hand to do something strenuous like woodwork.
Weakness in his right thumb, he can’t push down with it.
Some muscle atrophy around his thumb and on the back of his hand.
Pain around his right thumb, again after using it.
Weakness and stiffness in his right ankle after walking for quite a while.
Stiffness in his jaw, neck and sometimes the base of his tongue.

He has had an X-ray on his hand which showed nothing and an mri on his neck which we are waiting for results from. His doctor says she will send him to a neurologist if the mri comes back with nothing.

Does this sound like the start of MND? He is beside himself and I don’t know whether to keep telling him it could be something other than MND or be practical and begin planning /preparing for a diagnosis of MND.

Is there any possibility that it could be in his mind? His father is in the late stages of MND and so is very distressing.

Does it sound likely to be MND?

Sorry to keep going on, just getting ourselves into a free fall panic.

[Terry]

Hi fiona,

I don't know really the best way to reply. When you first posted about his problems I thought that it was not Mnd. With the new issues it is still very hard to say. It could be so many things but Mnd can start on one side so it is a slight possibility.

How old were the other members of his family when they got it?

29 does seem to be a bit young.

Hope he's wrong and is soon better.

Love Terry

[Kayleigh]

Hello Fiona,

I am so sorry to hear about what your partner is going through. This must be an extremely stressful time for you both, and it appears from what you have said, that the uncertainty about what is causing your partner's symptoms is also causing a lot of anxiety.

Whatever the GP has said, a GP is not qualified to make a diagnosis of MND - this would need to be diagnosed by a specialist neurologist. You mentioned that the GP is waiting for the results of your partner's MRI of his neck before considering a referral to a neurologist. Do you know when she will get these? If there is a long time to wait until the scan results are available, and If the GP already thinks that the symptoms could possibly be due to a neurological condition such as MND, then could she refer him before she gets the results? This might not be possible, but I am thinking that due to the anxiety your partner is experiencing about the situation, seeing a neurologist for their expert opinion as soon as possible might help.

The MNDA Connect helpline is available from Monday to Friday and the people there are always extremely friendly and helpful - please do not hesitate to phone them if you or your partner would like someone to talk things over with. This is a link to the details of the helpline:-

https://www.mndassociation.org/getti...t/mnd-connect/

Please try not to panic. As Terry has already said, there are other things that could be the cause of your partner's symptoms.

Love and best wishes,
Kayleigh xx

[Jaxx]

When my daughter started displaying symptoms I simply went on google symptom checker and typed in all her symptoms it told me the worst.

[MNDConnect]

Hi Fiona

As has been mentioned, a GP is unable to diagnose motor neurone disease (MND). This is a diagnosis that can only be made by a neurologist.

It's impossible to say as to whether your partners symptoms may be MND. They could be caused by a wide variety of things and the only person who could really answer this question would be a neurologist.

This is understandably a worrying time for both of you. Please do give us a ring here at the MND Connect helpline and we can discuss your concerns with you. We are available Monday-Friday 9am-5pm on freephone 0808 802 6262.

Best Wishes
Rachel
MND Connect Adviser

[Fiona89]

Thank you all so much for replying, it means a lot.

Trying not to panic but given his family history it’s quite hard not too! Terry - his Grandma was in her 70s, uncle in his 40s and Dad 60s.

Fingers crossed the MRI results will be back by next week. He also had an x-ray on his hand which showed no signs of any breaks etc. I think is what started the panic as we were hoping the x-ray would show something and we would know what’s causing it all.

Thank you again so much for your care.

Love,

Fiona

[Fiona89]

Hi all,

So my partner saw a hand specialist this week, she said she was confident that the median nerve in his wrist had been crushed and that was causing the weakness and atrophy in his hand. I know this should be positive news but I can’t help but worry still. What if she’s wrong , I know that’s terrible as she’s the specialist! I’ve read so many stories of misdiagnosis. He didn’t have any tests but she gave him wrist exercises to do and wants to see him in 6 weeks.

I just can’t stop worrying. His ankle is just the same.

Fiona

[Kayleigh]

Hello Fiona,

I am sorry to hear that you and your partner are still worried, even after getting the hand specialist's opinion. Hopefully, she will be able to give you further re-assurance at the appointment in 6 weeks time.

If it was me, I would probably take the specialist's advice and do the recommended exercises before the next appointment, and then take things from there. It is up to your partner though, if he wants to get a second opinion from another specialist (but presumably this might need to be paid for privately, if not available on the NHS).

I recall from your posts in December that your partner's GP was considering a referral to a neurologist, but was waiting to receive his MRI results. Hopefully the GP will receive the results soon (if not received already), so that your partner can find out if a referral to a neurologist is necessary.

Best wishes,
Kayleigh

[MNDConnect]

Dear Fiona,

I can understand why you are not completely reassured by the diagnosis from the hand specialist, you feel that there are still unexplained questions and the problems with his ankle are still causing your partner concern.

As has already been suggested your partner should carry out the exercises suggested by the hand specialist, but if his hand has not improved at the end of the recommended time a referral to a neurologist should be requested.

If your partner would rather not wait until the six weeks have passed he can ask for a referral to a neurologist. A referral to a neurologist is needed from the GP whether it is for an NHS appointment or a private appointment.

He would probably benefit from seeing a specialist MND neurologist at an MND Care centre clinic if possible, a specialist would be more able to reassure you both as to whether his symptoms are caused by MND or not.
If you would be able to let us know where you are in the country we would be able to advise you of the contact details for an MND Care Centre near to where you live. Private appointments are also offered at some of the care centres.

If the neurologist is concerned he would refer your partner for tests such as an EMG and/or nerve conduction tests which look at how nerve signals are being sent and received by the muscles. These tests should indicate if there are any problems with this process.

If you have any questions please do not hesitate to ask.

With kind regards
Jacqui
Senior MND Connect Adviser

[Fiona89]

Thank you both for replying. He is doing the exercises and has done so religiously since he saw the hand specialist, I think he’s relived someone has given him something to try as everyone else has just referred him on. He said she was very confident.

He has a neurology appointment booked for March. His mri and X-ray came back clear.

[Kayleigh]

Hi Fiona,

It's good to hear that your partner is doing the exercises - hopefully, there will be an improvement in his symptoms by the time he sees the hand specialist again.

I hope that your partner's medical appointments go well.

Best wishes,
Kayleigh