Our son Alexander was born with Sturge-Weber syndrome (SWS), a rare condition caused by a single genetic mutation that occurs spontaneously in utero. The gene mutation leads to capillaries not functioning correctly in the skin, eye and brain. This leads to visible ‘Port wine stain’ birthmarks, glaucoma, seizures and neurological complications,

Alexander has a prominent birth mark on his face and also suffers from seizures that cause cognitive deficits and sometimes requiring intubation to stop and stroke like episodes that lead to him being temporarily paralized in one side.

For the first time, researchers are exploring whether gene-editing technology could target the mutation that causes SWS itself. The research is at an early stage and needs funding to progress, but it offers an extraordinary possibility: that one day we could treat the cause of Sturge-Weber rather than spending a lifetime managing its effects.

Alexander’s diagnosis turned all our lives upside down, since that moment we have held out hope that one day there may be a cure. Technological advancements are meaning that is becoming a real possibility, but given the rarity of the condition it does not make sense for pharmaceutical companies to fund the research. That’s why you donation is so important.

For Alexander and other children living with SWS, the possibility not just to cure the visible birth mark but also the vascular malformations on his brain that lead to epileptic seizures would be completely life-changing.

(All funds will be remitted to The Vascular Birthmark Foundation’s VBF Research Fund) or donate directly at https://birthmark.org/research/)