Aubree is 6 years old and has Salla Disease which is an incredibly rare metabolic disorder. It is genetic and neurodegenerative, she has two class V gene faults that mean her body does not process a chemical we make naturally called Sialic Acid. It causes a build up in the body’s tissues and is toxic to brain matter so over time it destroys brain and central nervous system tissue.
Aubree is also visually impaired, has scoliosis, a seizure disorder, global developmental delay, is PEG fed and is under Demelza Hospice care.
We have funded Aubree's orange coloured wheelchair of £4,993 as she had outgrown her NHS funded specialist pushchair and the NHS were only able to offer a small standard wheelchair as a replacement. This chair now makes a real difference to Aubree's comfort and posture while she is outdoors with her family.
We also learnt that Aubree's younger brother, Gunnar, aged 15 months now, also has Salla disease. Aubree and Gunnar are the only people in the UK with this condition, with just a handful of occurrences worldwide.
Due to Gunnar's age he will not receive help via wheelchair services until he is at least 3. He has profound postural needs and appropriate seating for when the family are out and about will benefit him. Gunnar already had an appropriate seating system so we have purchased for £945 a Pushchair wheelbase to fit the Size 1 Leckey Squiggles blue seating system.
It was lovely to meet Holly, Aubree and Gunnar's mum, and learn a lot more about this unique family. Gunnar is adorable and has a beautiful smile and cheeky glint in his eye and when Aubree came home from school it was a pleasure to see how they were excited to be with each other.