Alone we are rare, together we are strong
To provide support for families caring for a child with CRELD1, to raise awareness of CRELD1 and to support medical research.
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.
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 (autosomal recessive inheritance). 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 is also characterised by multiple, frequent, treatment resistant epileptic seizures, adrenal insufficiency, severe bilateral neural hearing loss, immature eye development, accuse respiratory distress and submucosal cleft palate.
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.