“I’m Vaila, mum of EJ (11) and EW (8) and we live in the UK. EJ is a sensory superstar and loves movement, music and experiencing nature. She also has an ultra condition, KAT6A Syndrome, and is one of just over 300 people diagnosed around the world so far! KAT6A Syndrome results from a change in the KAT6A gene, which makes the KAT6A protein. This protein is involved in controlling the proteins from other genes, therefore a change will affect various parts of the body and can lead to a wide range of symptoms and developmental delays. Not all functions of the KAT6A gene are known, so therapies may change as research advances.
EJ wasn’t diagnosed until she was 6, despite having a collection of symptoms since birth. In the early days, all the genetic tests offered by the NHS in the UK drew a blank and we felt pretty confused and alone, bouncing from one speciality to another. At age 2 EJ joined a UK wide research project, the DDD Study, analysing her whole genome. This process took 4 years (!) for EJ, and while waiting for her diagnosis we found a fabulous support group in SWAN UK (Syndromes Without A Name). It was so reassuring to find that it’s actually not uncommon to be undiagnosed, and the group provided us with help, advice, comfort and true friends in our diverse rare community.
EJ’s diagnosis didn’t provide a huge amount of answers straight away, and EJ continues to be quite lost in ‘the system’, with no lead clinician and a lack of coordinated specialities. However a huge benefit in the diagnosis was finding other families through the KAT6A Foundation who support families and research for both KAT6A & KAT6B Syndromes.
In 2018, we joined Cambridge Rare Disease Network’s ‘Unique Feet’ group for rare families local to Cambridge UK. I can’t describe how beneficial the group has been for our rare children, their siblings AND us parents, connecting with friends locally who ‘get it’ and getting involved in the work CRDN do to raise rare awareness!”