Empowering Parents with Knowledge and Tools to Navigate Genetic Disorders
Complete our online AI-based assessment and receive more information on possible causes and recommendations on how to assist your child.
It is a rare genetic syndrome that affects the connective tissue of the body. It is caused by mutations in specific genes, and common symptoms include hypermobility, low muscle tone, and joint dislocation. When it comes to a
A wrong diagnosis can have many implications, including delay in ensuring the patient and their family receive the correct support and treatment. In some instances, it may even mean a misdiagnosed patient receives the wrong treatment and care options.
A single copy of the mutated gene, on the non-sex chromosomes (autosomes), in each cell of the body is enough to cause a disorder or syndrome associated with this changed gene. This mutated gene may be inherited from an affected parent, or it may be the cause of a de novo or new mutation.
For many parents, guilt is a constant emotion as we raise our children. Are we making sure they eat healthy enough? Are we monitoring their screen time enough? Are they happy, do they have enough friends? Am I providing the right environment for them? But for parents of a child diagnosed with a genetic condition, the intensity of the guilt, that maybe somehow I am to blame for my child’s condition, can be almost too much to bear.