Current medication:
Co enzyme Q10 30mg q.d.s
Riboflavin 50mg t.d.s
Nutritional drinks
Arginine - to start around August
Shay's blood count has remained very stable without any transfusions since September 2010. In totally Shay received 16 red cell transfusions. The only line that is still causing minor problems is his platelets, they are between 50-70. Shay is having more problems with his poor appetite and weight gain. His weight is on the 9th centile and his height (101.5cm) is between the 2nd and 9th centiles. At the last clinic his cardiovascular, respiratory and abdominal examinations were all normal.
Neurological examination revealed mild bilateral ptosis worse on his right eye than left. Shay has fine retinal pigmentation bilaterally.
Shay's plasma arginine is slightly low in the plasma amino acid profile at 25 (ref 40-120), and a citrulline of 26. His CSF arginine is low at 11 (ref 15-40). These results were from his last lumber puncture. His CSF lactate was 2.3 slightly elevated.
Shay had a skin biopsy when he had his port removed last year. Fibroblasts were sent for respiratory chain enzymes assays and mitochondrial DNA deletion analysis (this will tell us which complexes etc are affected). Shay is currently waiting for an MRI scan on his brain.
At the clinic Shay had clinical photographs as his Doctor is suspicious that there might be characteristic facies in Pearson syndrome i.e chubby cheeks.
Shay is having very subtle neurological problems which is a feature of mitochondrial DNA deletions and are likely to progress, all we can hope for at this time is for a slow progression.
We have a couple of very important appointments next week regarding G-tube feeding for shay. I will update as soon as things start to progress.
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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