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Casper was born on the 9th April 2010 - two weeks late, but after a textbook pregnancy (from morning sickness to heartburn) where there were no indications that there would be any problems. He was born after 20 hours of labour, with the help of an epidural and some forceps. He cried within seconds of being born, and passed all his preliminary tests, including hearing, sight, moro reflex and was discharged from the hospital after two days.

We were out and about, enjoying the sunshine and picnics from day one. He was happily breastfeeding from day two, crying when his nappy was changed but enjoying his daily baths. He was on a normal feeding, eating schedule, and tended to sleep a good four hours after his nighttime bath. We considered ourselves both lucky, and blessed with excellent parenting skills! We had our own way of comforting him when he cried - Ollie would walk up and down the stairs holding him, Beth would gently jiggle him in an upright position - both methods tended to work, though Ollie’s jiggling and Beth’s stairwalking were ineffective. Casper knew what he wanted.

Casper was born into a loving extended family, with regular visits to grandparents, aunties, uncles and cousins, who all loved to cuddle and hold him. He was happy being held, but always remembered dinner time. He also had some excellent NCT buddies, two of whom had beaten him to his birth date, two who arrived within a couple of weeks.  With them he shared a BBQ, picnics and swimming lessons - all of which he performed as a normal baby should.

By week 5, however, it seemed that he was not keeping up with his buddies.  We had been told that all babies develop in their own time so we tried not to be overly concerned.  We were looking forward to him smiling, growing and supporting his neck as the others seemed to be doing.  By week 6, we were concerned about his muscle tone, and his increasing tiredness, so we asked the doctor if we could see a paediatrician for their expert opinion. After explaining in depth his symptoms, and a thorough check-over, he could not see anything visibly wrong with him. We were told that he could have a virus, but to monitor over the next couple of weeks. By week 8, things had not improved, and he had not been gaining much weight so we took him back to the hospital, where this time a senior consultant confirmed our concerns - there was definately something seriously wrong - and recommended he be admitted.

Over the following few days they carried out numerous tests, including MRI and EEG scans, blood and lumbar fluid analysis, x-rays and physical examinations - but all tests came back normal, with the only ‘tell’ being a raised lactate level in his blood. This led the doctors to investigate the possibility of a metabolic disorder.

Casper’s condition continued to decline. A week later, he suffered a crisis where his temperature dropped quickly, he became clammy and completely unresponsive and floppy. We rushed him to hospital, where his condition was stabilized before he was taken to Southampton Paediatric Intensive Care. He stayed there for 3 days, before being moved to the High Dependency Unit, where he stayed a further five days. During his stay in hospital, the doctors recommended rushing through a skin and muscle biopsy, which we hoped would lead to a diagnosis - at this point, we only had suspicions of the condition.
Casper’s Story