Vincent's Story - CaSr
Meet Vincent. At 6 weeks old he is our youngest , newest member and has already led a very full life. Here, we follow his progress......
Vincent started having throat spasms and seizures at 5 days old. He was found to have a serum calcium level of 1.1. The local hospital followed emergency procedure but the calcium kept falling. Hypopara UK stepped in to recommend a specialist and Vincent was transferred to a major teaching hospital under the care of one of our advisory team, a paediatric endocrinologist who specialises in calcium homeostasis.
Now 6 weeks old, baby Vincent has had a pump fitted to deliver parathyroid hormone directly, like an insulin pump. He is now maintaining levels of 2.1 without supplements. He is still on diuretics and must have an operation to remove the cataracts which developed due to the severe hypocalcaemia, but he is alive, on the mend and, as you can see, absolutely adorable.
It turns out that little Vincent has a very rare disease indeed; a rare form of a rare disease, in fact. He has a genetic form of hypoparathyroidism caused by a calcium receptor mutation of which there are over 300 types. Vincent's type is the second only reported case in the world. After a normal pregnancy, and with 2 sons already, this news was quite a shock to his parents who have no history or rare disease in the family.
We'd like to thank the two consultants on our advisory team who responded immediately to our call; Dr Nick Shaw in Birmingham gave early advice and Dr Jeremy Allgrove is now looking after Vincent at Barts Hospital in London.
Vincent in his new baby glasses
This is a heart warming story but could so easily have turned out differently. This is why we are using Vincent's story to highlight Rare Disease Day when we ask you to think about babies like Vincent, about their families, about the brilliant doctors who work so tirelessly to save their lives, and about the patient organisations like us who support families needing help with diagnoses and living with lifelong conditions. And about those babies who weren't so lucky.
UPDATE: May 2015
Vincent has had his cataract operations now and despite some initial concern he is fixing and following well. Here he is in his smart new glasses. His calcium levels remain stable thanks to his new pump which you can just see in his left pocket.
Hurray for Vincent!
UPDATE : February 2016
Vincent is now 13 months old and doing very well on his PTH pump, as you can see. His very rare type of hypoparathyroidism is being well managed between his specialist paediatric endocrinologists at Great Ormond Street Hospital and the Royal London every 3 months, his local hospital for 2 weekly blood tests and his parents, day and night.
Vincent's mum Christabel says: 'We have had no issues with the pump and his calcium levels are stable with 2 weekly blood tests at the local hosital and a minor adjustment to the dosage when necessary. His kidneys were healthy with no stones at the most recent scan and the nephrocalcinosis identified from the original scan has gone. Apart from the Forsteo (PTH), Vincent also has recently started a thiazide which has normalized his urinary calcium. He also takes vitamin D, vitamin K2 and magnesium faithfully every day. He is walking well now and is very active and strong. His eye sight is measuring now in the normal range with the help of the glasses.'