Sarah*, 4, lives at home with her Mom and Dad, her younger brother, her aunt and uncle and grandparents. Sarah was born at 34+1 weeks with Congenital harlequin ichthyosis, a rare genetic disorder that results in thickened skin over nearly the entire body at birth. The skin forms large, diamond/trapezoid/rectangle-shaped plates that are separated by deep cracks. These affect the shape of the eyelids, nose, mouth, and ears and limit movement of the arms and legs. Restricted movement of the chest can lead to breathing difficulties. Sarah also has evidence of developmental delay and suffers with gastro-oesophegeal reflux. Due to this condition Sarah is small for her age.
The package of care we provide to Sarah and her family helps to make life that little bit easier for Mom and Dad and to allow them to spend quality family time together.
