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Millie was diagnosed with Wiedemann-Steiner Syndrome in January, after 5 years of waiting following genetic testing to try and find out what was going on.

This came as a huge shock, and also a huge relief to think we could now get the support she needed and deserved. But being so rare, there is nothing out there for her. Not many health care professionals have even heard of it, and it currently only affects 1 in 40,000 children. It is so new and rare that there isnt yet a UK charity set up. 

Wiedemann-Steiner syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay, and mild to moderate intellectual disability. It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on the back, behavioral difficulties, and seizures.

We need to also raise awareness for all the other children who have been diagnosed with Wiedemann-steiner syndrome. They deserve to be recognised, and we need more support as a family. 

There is no cure, and Millie will always face difficulties in her life. We have been told that she should have a normal life expectancy, which is a huge relief. 

We would not change Millie for the world, we just want her syndrome to be recognised and have more awareness. 

Thank you for your support ❤

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