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London, United Kingdom
Welcome to Shay's story and thank you for taking the time to find out how Shay is doing. It is a place to share our hopes, sadness and the happy times that our little man has. Shay in April 2008 was diagnosed with Pearson's Syndrome a Mitochondrial disease with no cure. Pearson syndrome is very rare, less than a hundred cases have been reported worldwide. It characteristically present in early infancy with pallor, failure to thrive, pancytopenia and diarrhoea. Additional manifestations often include progressive external ophthalmoplegia, proximal myopathy with weakness, and neurologic disturbances. Multiple organ involvement is quite variable. Most infants die before age 3, often due to unremitting metabolic acidosis, infection, or liver failure. Those few individuals who can be medically supported through infancy may experience a full recovery of marrow and pancreatic function. These children eventually undergo a transformation from Pearson's syndrome to Kearns-Sayre syndrome with the development of ptosis, incoordination, mental retardation and episodic coma. Life as we use to know it I cannot remember. We have to live in hope that a miracle will happen for our son.

Wednesday, 1 March 2017

Update so far this year March 2017

Shay has had a busy year so far, a Lumbar Puncture at the start of January, this was due to his stroke like episode. He has seen a Neurologist, ophthalmology, endocrinology, gastroenterology team, palliative care team and a appointment with his local consultant.

We are awaiting the results from the Lumbar Puncture, this is important as this will help tell us what medication needs to be increased to try and help Shay. Whilst having the lumbar punch shay had numerous consultants  pop into see him. As a result of this we had short notice appointments with the consultants from neurology, gastroenterologist and endocrinology. The consultants have been very good, they all mention that the treatment is supportive. The gastro consultant was brilliant and shay took to him, they spoke for ages about football before mum and dad could speak. This doctor arranged for a day of tests which happened last week, so awaiting the results from this, GOSH send the tests to a outside company.

The ophthamology was what we were expecting, his sight has deteriorated again, this appears to happen every 6 months. He has been diagnosed with night blindness.

If you follow this page you will get notifications of when the page is updated. We have recently started a Facebook page called Buildforshay, this has been started to raise awareness of his syndrome, along with charity events to help raising money for a palliative care suite for Shay.

If you have any questions please comment/ email and I will get back to you.
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2 comments:

  1. AnonymousWed Apr 19, 01:58:00 pm 2017

    BBC news - Shay's story - how do I donate?

    ReplyDelete
    Replies
    1. ShayTue Jul 25, 06:23:00 pm 2017

      The just giving page (build for shay) we had has closed as it only stays open for 3 months. If you still wish to donate please feel free to email me and I will give you his account details for his build.

      alan_bid@hotmail.com or buildforshay@hotmail.com

      Delete

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