Happy Rare Disease Day!

Our sweet Thea has πŸ’›Gould Syndrome πŸ’›Gould Syndrome is a rare, genetic, multi-system disorder. Gould Syndrome is often characterized by abnormal blood vessels in the brain (cerebral vasculature defects), eye development defects (ocular dysgenesis), muscle disease (myopathy), and kidney abnormalities (renal pathology); however, many other aspects of the syndrome including abnormalities affecting the structure of the brain (cerebral cortical abnormalities) and lung (pulmonary) abnormalities continue to emerge and the full spectrum is still uncharacterized.

There are 28 different types of collagen in your body and mutations in the genes that encode these proteins lead to multiple, highly diverse diseases. Gould Syndrome is a mutation on the 13th chromosome.

Gould Syndrome is diagnosed following a genetic test revealing a mutation in COL4A1 or COL4A2. If either parent also carries the mutation, it is considered inherited. If neither parent carries the mutation, it is considered de novo which means that the mutation is a new occurrence. In cases where the mutation is inherited, the carrier parent is often clinically unaffected. This can occur if the carrier is a mosaic – which means that some cells carry the mutation while other cells do not. The degree of mosaicism is highly variable – ranging from only a small percent of cells with the mutation to nearly all cells carrying the mutation – and depends on the stage during development that the mutation occurred. It is important to discuss these concepts with a genetic counselor and understand their implications.

More info about Gould Syndrome is available at https://rarediseases.org/rar…/col4a1-a2-related-disorders/

The brain abnormalities caused by Gould Syndrome has resulted in Thea also being diagnosed with Focal Epilepsy, Quadriplegic-Spastic Cerebral Palsy, Cortical Visual Impairment, and feeding difficulties.

Today we celebrate Thea, and all the other β€œrare” babies we love so much!


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