Urgent help in diagnosis

I need urgent help in diagnosing what the cause is for my mother’s present condition.

Please read her case history and I hope I can hear back from any of you related to any diagnosis and treatment options available for this.

Mum’s Year of birth- 1956.
Short Background - She did her fine arts - very well versed in all aspects- drawing, painting and music. She worked later as a computer teacher in an IB school.
Personality Before - Cheerful, well-loved and extremely social and a ‘family magnet’ literally!

Sequence of events & other diagnosis:
2008 - Annual health check up done. She has congenital asthma . But Ultrasound report showed obstruction in the RHS Pelvic Urethra Junction. After repeating USG tests as suggested by our family doctor, referred to Urologist. Based on MRI, Open Pyeloplasty surgery suggested, but upon second review with another doc- RH Kidney was almost doing 45% filtration and the LH kidney was almost 100% okay, the Doctor suggested there was no need for any open pyeloplasty. So we did not go for surgery.
In April 2010- retirement from her school

Neuro Symptoms -
Period from 2009 to 2012- We observed that she was slowly having greater problems in balancing and walking. She had couple of falls while tripping over water pipes, electricity wires. Although she walked on her own her pace slowed down and she started seeking help to walk over speed breakers, climbing stairs. She avoided escalators. She could not tie a saree (we are Indians) on her own and shifted to ‘salwar kameez’ (Pant and long shirt). But the worst thing to happen was her inability to sing normally (trained in Carnatic classical music) , her gradual forgetfulness of the right words while singing and the stuttering of speech.

Period from 2012 - 2015 - Speech therapsit determined the causes for her speech volume coming down and her stuttering which was now very obvious. She upfront suggested that stuttering is related to a neurological disorder and referred us to a neuro specialist. Now began our tryst with neuro surgeon who did a MRI of Brain and Spine, did electrical conductivity tests. Based on the reports received he could not come to any conclusion and put us on to some medication - Vitamin E and suggested physio-therapy exercises.
Upon second opinion did other tests - psychology test, disability test, EEG, Sensory and Motor tests and after repeated sittings (from 2012 to 2014) doc told her to stay away from all medicines - listen to music and do some basic exercises. He said that her condition was something he called - Parkinson Plus - and said that she should be careful not to fall - he advised me to increase the supports in the bathroom - and always be with her - not to leave her alone.

Period from 2014 - 2015 - Mum’s ability to do her daily activities slowly came down - she could not make rice - coffee - her proportions went haywire - she was losing balance while walking - her stuttering became even more - due to which her speech volume came down - she could not speak over phone continuously as she had difficulty choosing the right words - she could not order groceries - she could not comb her hair - her right hand and right leg in effect her right side was weak.
In 2015 another neuro doctor diagnosed that she was having Pernicious Anaemia and wanted us to give her a course of injections of B12. Despite 6 weeks of injections on a daily basis there was no change got the NCV, SSEP, and EMG studies done. These studies were done in February 2016 and reports received are not at all clear about the findings. He was referring to Apraxia, Cortico dysfunction (CBGD)

Now in all of this, she has become a completely different person. She has gone into a shell and hardly interacts unless asked. We speak to her about how she feels and talk openly about what she is able to do and what she is not. What google tells us is a scary concoction of scientific jargon which we are now beoming familiar with. But bottom lne is that her condition is still undiagnosed and all these terms are scaring us so much.
We are praying everyday for some miracle to happen!

Please could anyone share their feelings about this and offer any advice or people that I could contact?
We are UK residents but my parents are in India, but I am keen that they come here to consult someone.

How distressing for you and your family (and for your dear mother, of course).

I wish I knew what to suggest, but I have only an interested amateur’s knowledge of MS and none at all of other neuro conditions like PD.

It is a terrible thing to see a vibrant and able person so diminished by illness that robs her of so much. I hope you get some clarity about her condition soon and some help with managing things as well as can be.

Alison

Thanks Alison. It is so scary to keep coming across the prognosis on every Google page I refer to and then trying to figure out how many years she has left! Whats frustrating is that no doc is confirming any diagnosis… but merely throwing terms, a lot of them. I am trying to stay positive and praying…!!

I love her so dearly and just can’t see her gone … not so early :’(

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I am sorry to read of your mother’s situation and I’m afraid I cannot shed any light on her symptoms. However, I do wonder whether it might be helpful to post your question in a specific Parkinsons Disease forum if this is what her initial diagnosis was as you may receive some specific responses if her degeneration is related to this.

I wish you, your Mother and your family well

Jane

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Hi pillartopostforamma,

Taking things a bit at a time, I think Parkinsons + is what some people call Aggressive Parkinsons and I believe there are some similar terms. Parkinsons is a progressive neurological condition, and I guess that your second opinion was close to being right.
if you bring your mother over here, she must see a Parkinsons specialist. The symptoms you describe are very similar to those my wife has. If it is Parkinsons, a treatment is fairly simple - a drug called Sinemet or Madopar will not turn back the clock, but should slow the progression right down.

I don’t know where in the UK you are, but the Parkinsons Society has a similar forum, and you can ask for a good place to take her. Then look up the local private hospitals and see where the consultant from the recommended centre has a private practice.
You could also contact the nearest branch of the Parkinsons Society and ask for the same advice.

As for avoiding falls, the big trick is to find out WHY. In my wife’s case, stepping backward is a big no,no,no, and trying to turn at the same time makes it a lot worse. A three wheeled walker can help (4-wheelers even better), but the problem is making sure that she uses it.

Hope this helps, but feel free to PM me if you have more questions.

Geoff

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