Empowering Families with Knowledge and Support for Genetic Health
Complete our online AI-based assessment and receive more information on possible causes and recommendations on how to assist your child.
The role of a genetic counselor is essential for rare disease patients and their families. We take a look at what a day in their life might look like. Genetic counselors are many things. Their role is multi-faceted and involves wearing many different hats in the course of their working day and professional life.
Klinefelter syndrome can raise a multitude of obstacles to optimal social, physical, and mental health development. Genetic counseling for Klinefelter is advisable as early as it is suspected or detected, in order to plan for your child or loved one’s best possible maturation process and highest level of long-term well-being.
A pediatric genetic expert may have one of two roles. They may be a pediatric genetic counselor, or a pediatric geneticist. Both types of experts specialize in genetics and rare disorders in relation to children, from infancy to the end of the teenage years.
Telegenetic counseling, quite simply, is genetic counseling available online. It requires a connected video device, this can be a smartphone or computer, and that is all. It is genetic counseling, and all of the support and services it provides, delivered virtually.
Online genetic counseling is taking off, and in the process removing barriers to accessibility that often prevent many rare disease patients and their families access crucial genetic counseling services. Genetic counseling is many things. First and foremost it is a critical, and essential, part of the diagnostic process. Anyone, be it an individual, couple, or family, facing a rare disease diagnosis or with a family history of a rare disease, should have access to genetic counseling services.
Within genetic counseling there are specific counseling services that allow those facing a rare disease diagnosis to receive targeted support, and care as they navigate the diagnostic process. One of these services includes prenatal genetic counseling, a specialized type of genetic counseling for parents-to-be.
Genetic counseling for Fragile X syndrome can be especially complex, in part due to how it is inherited and the gene mutations responsible for causing it. Other complications arise from the fact that symptoms vary greatly between an individual, and may not always be obviously caused by Fragile X. Misdiagnosis is common within the rare disease field, and it takes an experienced and certified genetic expert to be able to make sense of the set of symptoms related to Fragile X, and the possible gene mutations responsible for causing it.
There are a number of reasons why a couple, or parent-to-be, may be referred to a genetic counselor during a pregnancy. These include: Maternal age Maternal age is a known risk factor in the development of specific genetic syndromes. The older the age of the mother, for example, and the higher risk of having a baby born with Down syndrome. A mother-to-be, over the age of 35, may be referred to a genetic counselor to understand the risks and genetic testing options available, especially for syndromes where a higher maternal age is a known risk factor.
Genetic counseling is more than just an option when faced with a Turner syndrome diagnosis, it is an essential part of the diagnosis, and testing process. No one should undergo screening and testing for Turner syndrome, without first initiating the process of genetic counseling.