Empowering Parents with Knowledge and Tools to Navigate Genetic Disorders
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The symptoms of Tay-Sachs are a set of symptoms unique to this individual genetic syndrome. Tay-Sachs is a genetic syndrome, also known as a rare disease. It is usually identified during infancy, and in many cases it is fatal, with a life expectancy of no more than a few years following birth.
Single gene disorders are some of the most well-known, and researched rare diseases. This is because their causes are easily understood, and the way in which they are inherited is considered to be very clear and simple.
Genetic inheritance determines how gene mutations, and chromosomal abnormalities, are passed down from parent to child. How these mutations are inherited will determine a child’s risk factor for developing a rare disease, if one or both of their parents are carriers. The types of genetic inheritance determine if and how a rare disease is passed down.
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.
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 missing part of the X chromosome in some of the cells of the X chromosome.
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, triggering the many different symptoms of the syndrome.
A delayed diagnosis is when a patient has had to wait an extended period of time 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 causes and symptoms of diabetes. There are also several different testing options for the disease that make a fast diagnosis possible.
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.