Undiagnosed ongoing joint issue

  I am hoping someone here might be able to give some advice, guidance, or insight. My brother (28 years old) has been suffering for quite some time with a joint problem that has, so far, eluded diagnosis. It began about six years ago, and has become increasingly problematic and spread to other joints. It originated with joint pain, and an inability to straighten his arm (his right arm cannot be fully straightened to this day, twisted at 45 degrees from fully extended). The doctors could not find a reason for this - no infection, no markers for arthritis in blood tests, all tests negative. He then suffered symptoms similar to bells palsy, with drooping of one eye, and his pupils were different sizes. He was admitted to hospital for nuerological tests, all of which came back clear. He was discharged, without diagnosis. The drooping of his eyelid improved of its own accord. The joint pains became less aggressive, but have spread throughout his body. He now finds chewing food painful, he walks with a distinct gait, and when he stands up the most appalling sound can be heard as his knees grind - the closer I can come to describing it is that it is a mix between the noise of velcro being ripped apart, and the sound of popping candy being eaten. His joints are swollen, but xrays come back clear.

  His rheumatologist prescribed painkillers with antidepressant qualities, but my brother does not wish to take them because they are addictive, because he is not depressed, and because his chief concern is the loss of mobility rather than the pain, which has diminished in recent years. The rheumatologist said he understood and supported my brother's decision not to take the medication.

  The NHS does not seem interested in actively pursuing a diagnosis - they have referred him to a physiotherapist, but any attempts at finding the underlying cause now seem to have been abandoned. We do not have the money as a family to go private, but I would be willing to take out a loan in order for him to see a top diagnostic doctor if that would help.

  It's just heartbreaking - he was a keen drummer, and has been unable to play music for years. Sometimes I will give him a friendly hug, and hear him wince as I accidentally nudge a sore joint.

  If any of you have advice, then please do speak up.

[Dr Vinod]

The best part of it is your support for your brother.

The diagnosis of a disease is very important and you have to take him to top neurologist in any big city. There is a chance that he has a connective tissue disorder associated with it.
He needs a big hospital with all facilities to go for a diagnosis of this type of case.
I am sure the clinicians will help your brother.

When the primary cause is diagnosed then the other secondary things like pain can be combated.
Your primary aim should be to go for the diagnosis and i wish you luck to pursue that for the maximum possible recovery for your brother.
Best of luck!

[6FT2]

Hi Miss Louise,

I Agree with DrVinod's opinion and I too praise you for the support of your brother.  I situation like that is very difficult to deal with.

You can try taking your brother to a geneticist or a bone specialist and have him assessed for "Connective tissue disorder" because if this is the case, the drooping eye/differently sized eyes might not even be neurological.  a HCTD can affect the muscles/tendons of the eye/eyelid.

Also, it is not unheard of that a person with a HCTD, has problems with extension of certain joints.

I am no doctor, but I have a connective tissue disorder called "Marfan's", so I recognise a lot of the descriptions.  I can't say 100% tho but any possibility that is ruled out, can bring you closer to the right answer.

Keep in touch and feel free to contact me if you need any advice!