Again I start this off saying sorry for not keeping this updated.
Since I have last updated this back in January, shay has had lots of appointments, test and he takes everyone of these in his stride.
We have had the results of the Lumbar Punch and this confirmed our thoughts that the syndrome has now progressed into the next stage, meaning that shay has diagnosed as having Kearns-Sayre Syndrome. In very simple terms it means the condition has and will effect his brain. (A positive from this is that we know we have shay around for more years than expected). Shay has been given a medicine which helps slow down the effects on the brain, this has help in his memory recall.
Heart block is one of the main things that we are keeping our eyes open for as this is the next main thing that will effect his life.
Shay has had appointments at his specialist hospital checking his eyes and hearing, and the syndrome has now effected both eyes. Shay had a appointment 6 months earlier and on his latest test they have changed again, so new glass 6 months after his last pair. Shay still complains of pain to the front of his head, and even now a month after his last change of glasses he is complaining that some vision is blurred even with his glasses on and the headaches are back. Shay had a hearing test last month and I was expecting a change in this but not to the level we were told. Shay has is barely just under the level to have hearing aids. The results showed that one ear is worse than the other, his next appointment has been brought forward
About Me
- Shay
- 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.
Monday, 20 July 2015
Monday, 12 January 2015
Always waiting for more results
I am sorry in the delay, I do keep check on this site and please fell free to leave messages etc for shay. I will always try to answer any questions.
I find that we await results of tests but normally we never get a full answer, as it always opens up more questions. Normally we need to go for some other test to find out what the next step is or to find answers for the current test. So always on going tests and awaiting the next result and then the next.
In August 2014, I wrote about waiting for results of a MRI scan on Shay Brain. I was building myself up for a change in Shays brain, this was due to several things, his memory getting worse, speech, vision, bad migraines and more.
The appointment was a surprise but opened up more questions. His scan showed that it had not got worse than the year before, but this did not answer the question that other problems were arising. So now awaiting an appointment with a neurological consultant, a Lumbar Punch, more eye and hearing tests.
Our Pearson's Professor was happy with the scan, but puzzled with what symptoms he was now showing. Shay was booked in to have his Lumbar Punch at GOSH, normally a day surgery, but with he was booked in to stay overnight.
We arrived early morning for the operation, Shay took longer to come out of recovery due to vomiting. Shay was moved back to his ward after an hour or so, he did not recover like he normally does, he was struggling this time, sleeping, not want to play or even eat a sweet. His feeds went on but on a extremely slow rate. He could not even tolerate this, he would vomit everything back up. He was getting extremely bad migraines , so bad that he just wanted to sleep, whenever he woke he would get sick with the pain.
Shay was on very strong painkillers but this was helping, we stayed a total of 5 nights and it took this time to try and manage his pain, once this was managed he was able to keep down his feeds.
Since our stay in GOSH, shay has had his ophthalmology appointment and been given a stronger prescription, his eye movement is getting restricted by the muscles tightening up.
We are now awaiting more tests re his brain, eyes and hearing.
I will post a photo shortly.
Regards
Dad
I find that we await results of tests but normally we never get a full answer, as it always opens up more questions. Normally we need to go for some other test to find out what the next step is or to find answers for the current test. So always on going tests and awaiting the next result and then the next.
In August 2014, I wrote about waiting for results of a MRI scan on Shay Brain. I was building myself up for a change in Shays brain, this was due to several things, his memory getting worse, speech, vision, bad migraines and more.
The appointment was a surprise but opened up more questions. His scan showed that it had not got worse than the year before, but this did not answer the question that other problems were arising. So now awaiting an appointment with a neurological consultant, a Lumbar Punch, more eye and hearing tests.
Our Pearson's Professor was happy with the scan, but puzzled with what symptoms he was now showing. Shay was booked in to have his Lumbar Punch at GOSH, normally a day surgery, but with he was booked in to stay overnight.
We arrived early morning for the operation, Shay took longer to come out of recovery due to vomiting. Shay was moved back to his ward after an hour or so, he did not recover like he normally does, he was struggling this time, sleeping, not want to play or even eat a sweet. His feeds went on but on a extremely slow rate. He could not even tolerate this, he would vomit everything back up. He was getting extremely bad migraines , so bad that he just wanted to sleep, whenever he woke he would get sick with the pain.
Shay was on very strong painkillers but this was helping, we stayed a total of 5 nights and it took this time to try and manage his pain, once this was managed he was able to keep down his feeds.
Since our stay in GOSH, shay has had his ophthalmology appointment and been given a stronger prescription, his eye movement is getting restricted by the muscles tightening up.
We are now awaiting more tests re his brain, eyes and hearing.
I will post a photo shortly.
Regards
Dad
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