Words really can't describe how we are feeling after today. Utterley devastated is a very mild word for it; our world is slowly collasping around us and it seems we just have to wait and see what happens to our darling little boy.
This pearson's is completely destroying any faith we have in life and what a totally cruel world we live in.Shay is such a strong resiliant child who is having to go through so much it is heartbreaking.
Today we saw his mitochondrial Doctor and she answered our questions with total honesty. Shay's future is unknown, how long he can survive this disease is unknown, what will happen next is also unknown. We do know that it is incurable and he will get the best supportive care there is.
Shay has a large scale deletion at 5kb which at the moment is just in his blood this is causing Shay to have transfusions. Some point in the future maybe a year his doctor said his bone marrow will mend itself. The cruel part is that the mitochrondial will build up somewhere in his organs, this is when changes will start happening with Shay.
Examining his eyes the Doctor saw pigmentation behind one of his eyes, this isn't good for our little man. Shay is at very high risk of losing his sight and his hearing. If he loses his hearing this can be fixed with implants.
In a couple of weeks Shay is having a port inserted into his chest under a general this will completely stop the distress of transfusions and needles he has had to endure. While under the general they will look at his eyes more closely, do a lumbar puncture and take quite a bit of blood so they can test the functioning of some of his major organs. Before Shay can have a general anesthetic he has to have an ECG to make sure his heart is ok. The doctors are going to be keeping a close eye on his heart and we did discuss any problems in future could be dealt with a pace maker.
Shay has these most beautiful green eyes the thought of him losing his vision has completely destroyed us today. We are in a place where not even words can describe the feelings we are going through.
The longterm outlook for Shay is bleak. We have to be strong for both of our children they both need us as much as they need each other. Chrissy knows her brother is unwell and there is no better sister than Chris for Shay to have. Tonight watching Shay and Chris playing brings tears to my eyes it is hard not to think about what the future holds for him and for her, you can't help having these thoughts. Being without our son, is something we will never ever be prepared for it is something we will fight to the end and no matter what happens no matter how tough life gets we will alway's be there and love both of our children.
To finish this post with at least one positive note that we got today we can take both our children on holiday a mitochrondrial expert will be found for us in whatever country we go to. Shay is going to have that experience of being on a plane we want him to have the best of everything that we can give and most importantly have the best time ever with his sister.
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.
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