After being born perfectly healthy, Macy suffered a sudden out of hospital cardiac arrest at 3 months old.
It was utterly terrifying.
After resuscitation she spent 5 weeks in Alder Hey Children’s Hospital in Liverpool, firstly in PICU, then HDU and was diagnosed with Dilated Cardiomyopathy.
A further diagnosis of Cone Rod Dystrophy soon followed, bringing with it Nystagmus & extreme Photophobia (sensitivity to light).
In May of this year, genetics testing results showed that Macy has an ‘ultra rare’ disease called Alstrom Syndrome.
It is an inherited autosomal recessive syndrome characterized by progressive loss of vision and hearing and a form of heart disease that weakens the heart muscle (dilated cardiomyopathy - the cause of her cardiac arrest), along with other conditions plus severe life threatening multi-organ fibrosis involving the liver, kidney and heart.
She has recently been certified ‘severely sight impaired’ due to the cone-rod dystrophy.
There are around 80 cases of Alstrom in the UK, and only just over 1,000 in the world.
Macy is the cheeriest girl you could ever wish to meet! She has a permanent smile on her face and is currently thriving at nursery, which she attends 3 days a week.
She astounds us and the professionals every single day!