Story about Hereditary Spastic Paraplegia .

HSP

Dec 2, 2


With a family history of her mum being crippled and her grandmother in a wheelchair, neither living to an elderly age, Mum did not know there was a hereditary disease causing disability in her family. 

It's difficult to pinpoint the onset of mum's symptoms as she also had spinal issues from an accident as a child masking what was going on. 

Eventually mum was diagnosed with hsp through her increasing symptoms and neurological examinations, and work to trace back and accross the family tree. We found the people up and across the branches with some of those having received the diagnosis earlier. 

It's about 30 years mum has had the symptoms from gait issues early on to lots of use of legs completely and loss of bladder control. 

We are not sure of the gene as basic testing has not identified the coming genes being the ones for mum. 

None of the children (4 in 40-50 age bracket) have sought diagnosis nor aware of symptoms at this stage.  Some feet issues have occurred in grandchildren of one child but not identified as HSP.

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