Freya Cooke

Freya was born perfectly healthy after a normal pregnancy on 25th September 2009 but she immediately struggled to feed and failed to gain weight. We knew something was wrong. She was diagnosed with reflux and a blood test showed that Freya was anaemic but they didn't know why. I also noticed that she had no head control and seemed floppy, I had my suspicions something was up but her lack of head control was shrugged off at her 8 week check up due to her small size.

Bloods were taken weekly until an abnormal blood result popped up, we felt a sense of relief, something had been picked up and Freya would soon be right as rain. We were wrong. The test showed that Freya had high levels of lactate in her blood and she was referred to a specialist in Inherited Metabolic Disorders who, in January 2010 when Freya was 4 months old, explained that Freya probably had a Mitochondrial disorder due to the high lactate, hypotonia and failure to thrive. We were told that the earlier symptoms present then the worse the disease tends to be and Freya had presented from birth.

We were devastated but held on to the hope that the tests would come back clear. The night before Freya's scheduled MRI brain scan she was admitted to hospital with Rotavirus and she suffered her first severe bout of acidosis, her MRI was rearranged for a later date. Freya had a muscle biopsy and the first stage of results confirmed Mitochondrial disease. Freya started on a cocktail of vitamins, not proven to help but it was worth a try. Her MRI didnt show anything significant but results have shown she is deficient in complexes 1 and 4.


Throughout the year Freya has suffered numerous viral infections and stomach bugs but each time fights them easier and with such determination to get better. Although she is smaller than she should be at her age she is quickly catching up physically, although developmentally delayed by around 3-4mths. Freya can now sit up, crawl, pull herself up to stand and cruise around the furniture so we hope one day she will learn to walk, all this is down to the help of physiotherapy and her amazing determination. She has successfully learnt to eat solids and is now on a high calorie milk to hopefully gain some much needed weight. Everyday we live in fear that Freya will catch a bug that could trigger more severe symptoms of the disease but when we see her perfect smile we realise how lucky we are to have Freya here with us and we treasure every precious moment that she is well.
 
Freya's exact diagnosis is still unknown but at the moment she is amazing the doctors with how well she is doing. We have been given hope that maybe one of the vitamins she is taking is 'treating' her or she has the rare type of Mitochondrial disease that can be reversible, but with Mitochondrial disease you just don't know what is around the corner and with every test comes a long and agonising wait. Freya is the most determined and happiest little girl I have ever known and we are so proud of her and what she has achieved. We, like others, hope to have that miracle child but in the meantime will join in to raise awareness of this devastating disease. 

Gemma and Andrew Cooke x