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Calcium-sensing Receptor (CaSR)

 

 To download the leaflet click here 

 

 

Alfie's Story

Calcium is not just about teeth and bones, it is essential to life. But when your baby has a rare calcium condition, treatment is not always immediate or straightforward.

 

For Alfie Jeary, seizures began at three weeks old but diagnosis took an agonisingly long time. He was transferred to three hospitals before his condition was identified and stabilised. Blood tests revealed low calcium.

 

Alfie’s mum, Jennifer Lofthouse, says, ‘I remember thinking, ‘Oh it's only low calcium,’ and we were given tablets and told he would live a normal life on this medication.

 

But weekly blood tests, calcium injections and infusions couldn’t prevent his calcium from persistently falling too low and Alfie would have frequent seizures. Eventually, he was diagnosed with a rare calcium–sensing receptor mutation in his parathyroid glands, meaning his body can’t regulate calcium levels.

 

Today Alfie has a pump, which injects parathyroid hormone when needed. Although he still gets very ill if he catches a bug, life has changed for the better for Alfie and his family – especially now he has a waterproof pump and can go swimming!

 


   
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