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.
A fertilized egg is made up of 23 chromosomes from the mother and 23 from the father. This then means that there are 46 chromosomes, and 23 pairs of chromosomes altogether. These chromosomes include the chromosomes that determine the sex of an individual- XX for a female and XY for a male. Chromosome diseases occur […]
Turner syndrome is a rare genetic syndrome that occurs in girls. Some girls with the syndrome have a missing X chromosome on their 23rd pair of chromosomes. This is usually caused by an error that occurs during the formation of the egg or sperm. In other individuals with the syndrome, it is caused by a […]
Fabry disease is the result of mutations in the GLA gene. This mutation causes an affected individual’s body to fail to produce an enzyme known as a-galactosidase A, or it prevents this enzyme from working properly. This then leads to a build-up of glycosphingolipids in the body’s cells, which damages different parts of the body, […]
A delayed diagnosis is when a patient has had to wait an extended period to diagnose a disease or health condition. Some diseases are diagnosed quickly – Diabetes, for example, is a disease with many affected individuals worldwide. There is a great deal of awareness among the medical community and the general public about the […]
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 rare disease, misdiagnosis is a problem across the board. However, when it comes to Ehlers-Danlos syndrome, misdiagnosis […]
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. In the UK, up to 50% of rare disease patients have received at least one incorrect […]
Hello, parents! We’re delving into the fascinating world of genetics; a subject that holds countless mysteries and wonders about how traits and genetic conditions pass from one generation to the next. Genetics might seem like a complex field, but by breaking it down, you can better understand how it affects your family’s health. When we […]
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, […]