Undiagnosed condition

[willywade]

My husband now cannot walk at all.. his legs are very stiff. Sadly his arms are also going the same way. He has no balance what so ever. He is 68 and this started three years ago on his return from a ski trip and has steadily worsened.We have been to two Neurologists and the conclusion is .. you are a Diagnostic Conumdrum ! What do you do with that ? He has had a brain and back scan a gene test for MND. It is not Parkinson’s. I really thought after research that it’s Lateonset Ataxia but what do I know ! He is well in every other way and on no medication other than Rivaxiban which is a blood thinner.We manage best we can with no help as we do not have a name for his condition so no support. So frustrating . I feel better for having written this to people who have similar problems !

[Angelcake1]

Welcome to the forum willywade.

My feelings are that you should have another appointment with a neurologist and tell them your thoughts.

My husband had a few head scans for a pitruatary tumour but the Cerebellar Ataxia was not picked up because it wasn't being looked for, therefore the cerebellum will not show up in detail.

Luckily he was sent to the Royal Hallamshire to see Proffessor Hadjivassiliou who is an expert in ataxia, so we were very fortunate.

Hope you find some answers soon, let us know what you decide so we can follow your journey, good luck x

[wobblybee]

🙂 You could ask your GP to refer you to your nearest Ataxia Centre. Neurologists at these Centres focus on a wide spectrum of Neurological conditions. Better still, your husband could be asked to take part in the 100,000 Genome Project. This a UK government project that is sequencing whole genomes (DNA) from National Health Service patients. 🙂xB

[willywade in reply to wobblybee]

Thank you very much for your reply... I am going to ask our Dr in a couple of weeks to persue the Ataxia route. I just wish these appointments didn’t take so long ! X

[sylviagreenhalgh]

I was like your husband. nobody knew what I had so I asked for a second opinion and saw a neurologist . After a lumbar puncture I found I could walk- having been in a wheelchair . so I saw a neurosurgeon and had a shunt put in my brain to drain off the Cerebro spinal fluid. I was nervous of the op but I am so much better, walk with a frame outside but can walk about OK round the house. I had to make adaptations- a wet room, ramps to the front and back of the house but these changes are useful in any case as I live alone and dont want to move again.My condition is normal pressure hydrocephalus- very few people know about it.

Good luck . it took 5 years to be diagnosed and I was in a wheelchair before the op. all the best Sylvia

[willywade in reply to sylviagreenhalgh]

Thank you very much for your reply. We are trying as much as we can. We have spent so much money on equipment and alterations.

We bought a Caddy car on Friday which has made life so much easier for my back as my husband is six foot two and fourteen half stones and transferring to a car was getting impossible. We have no help as yet ... I am managing reasonably well but for how much longer and savings do not last forever !

I’m sure there is a lot more advice I could use on how to do things easier but hey ho onwards and upwards and keep smiling !

[sylviagreenhalgh]

I dont know how old your husband is but I was retired when all this started so I applied for the attendance allowance that is not means tested and it pays for my help I have twice a week. I had to pay for the ramps and the wet room- as I could not get into the shower cabinet - they told me I had too many savings to qualify for help from the council. the powered wheelchair was free from the NHS- I returned it once I had my op. I use Fish insurance for car insurance, wheelchair insurance etc they are much cheaper then Saga .I think you learn what to do as it goes. but as I live alone I have a key safe and an alarm I wear round my neck ( Age UK ) before I had surgery I was always falling over and unable to get up so had some nasty falls so the alarm was a must. one occasion I fell in the garden and all the people on my list were out or away and the police came and got me up- I found that helpful. good luck ! all the best Sylvia

[willywade]

Thank you for your reply Sylvia... we are seeing our Dr next week for a review and hopefully to be referred to another hospital for another opinion. It would be so helpful to have a diagnosis so that I can have some support for the varying problems I have looking after my husband and what equipment there is to help. At the moment I need the right sort of turner to get my husband to bed which is the hardest problem just now. So far we have managed to work things out between us but that may have to change as he deteriorates. Onwards and upwards !