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Eilidh – A sensory superstar!

Eilidh from CamRAREs Unique feet group
This is 10 year old Eilidh. She is a sensory superstar and loves movement, music and experiencing the sights, smells & sounds of nature. She has ultra rare KAT6A Syndrome, and is one of only around 300 people around the world diagnosed so far!

KAT6A Syndrome
KAT6A Syndrome is a newly identified #RareDisease which results from a change in the KAT6A gene, a gene that makes the KAT6A protein. This protein is involved in controlling the production of proteins from other genes. Therefore, when there is a change on the KAT6A gene, it can affect various parts of the body and, as the glitch can occur at different points along the gene, the syndrome can lead to a wide range of symptoms, most commonly global developmental delay. Currently, scientists do not know all of the functions of the KAT6A gene, so knowledge will increase as research advances.

Similarities with another gene, KAT6B, means that the KAT6A Foundation supports families and research for both of these conditions. You can find out more.


The journey to diagnosis

Eilidh wasn’t diagnosed until she was 6 years old, despite having a collection of symptoms since birth. All the standard NHS genetic tests available drew a blank in identifying a reason for her developmental delays and as parents, we had felt pretty confused and alone, bouncing from one clinic to another.

She was entered into the DDD Study, an analysis of her whole genome, at about 2.5 years old. This can take some time (4 years in Eilidh’s case!)! While waiting for her diagnosis we found lots of support in the SWAN UK (Syndromes Without A Name) family. We found that it’s actually not at all uncommon to be undiagnosed, and the group provided help, advice, comfort, true friends and love in our extremely diverse community.


What a diagnosis meant to us

When Eilidh’s diagnosis came along, it didn’t provide a huge number of answers, at first anyway, and we still find Eilidh is a bit lost in ‘the system’ as a #RarePatient – with no real lead clinician and lack of coordination of disciplines. However, the loveliest thing about the diagnosis was finding other families (now about 20 in the UK!), and also discovering that some of the ‘behavioural traits’ linked to KAT6A Syndrome are ones that we know & love! “A happy demeanour! Always smiling, loving cuddles, giggling and laughing often!”


Finding our local tribe

Our family joined Cambridge Rare Disease Network’s Unique Feet group for families with a child with a rare or undiagnosed condition, in 2018 and, although we have found lots of support from the other organisations mentioned above, being part of CamRARE’s local network of rare families has been brilliant and hugely beneficial for the children, their brothers and sisters AND us as parents to be part of a network of local friends who ‘get it’!

Meet Eilidh, Vaila and her sibling Elliot as they challenge students to design a better play park in the video, via the button below.

If you have a child with a rare condition in East Anglia, and would like to join Unique Feet for family support, fun activities and joining others in being the voice of rare in your community, send us an email.