Alone we are rare, together we are strong
Our Mission
To provide support for families caring for a child with CRELD1, to raise awareness of this very rare disease and to support medical research.
About CRELD1
CRELD1 (Cysteine Rich With EGF Like Domains 1) is a Protein Coding gene. sequence changes in the CRELD1 gene are typically associated with the cause of atrioventricular septal defect.
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However, new types of sequence changes in different parts of the CRELD1 gene can cause an extremely rare genetic disorder, when both copies of the gene don’t function properly. This manifests as a wide range of neurodevelopmental disorders, ranging from mild movement disorders to severe developmental and cognitive delays.
This newly identified CRELD1-related disorder - otherwise known as Jeffries-Lakhani Neurodevelopmental Syndrome, or JELANS - is also characterised by multiple, frequent, treatment resistant epileptic seizures, adrenal insufficiency, severe bilateral neural hearing loss, immature eye development, accuse respiratory distress and immune related issues.
But we are fighting back!
We thought we would have to teach our child about the world. Turns out, we have to teach the world about them. They see a child who doesn’t speak, we see a miracle that doesn’t need words.
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