A Childhood Genetic Diagnosis

Childhood genetic diagnosis

There are a number of reasons for why genetic testing may be recommended for a child. Generally it is not recommended, without the presence of a family history or symptoms.

Family history of a rare disease

If the parents of a child are carriers of a gene mutation, generally it will be recommended for a child to be tested, to understand if they are also carriers of the same mutation and at risk for passing the same mutation or to their child. In some cases, if one or more parents is a carrier for a gene mutation, a child may be at higher risk of developing a rare disease caused by this gene change. In this instance, genetic testing would be strongly recommended. 

If the parents or siblings or child have been diagnosed with a rare disease, and if that syndrome has a known inherited cause, then it would be strongly advisable for a child to be tested for the same syndrome.

If family members have symptoms of a specific rare disease, with or without a confirmed diagnosis, a child may be at higher risk for the same symptoms. Genetic testing would be advised in this instance to rule out or confirm a diagnosis. 

Child exhibits symptoms of a rare disease

If a child exhibits several characteristic symptoms of a rare disease, this can be reason enough to pursue a rare disease diagnosis. Symptoms may include unique facial features, specific behaviors, and medical or health conditions. 

Each rare disease presents with its own unique collection of symptoms, and if a child is identified as having these or even some of these, a diagnosis or cause may be sought.

Genetic counseling 

Genetic counseling is an important part of genetic testing for children. It is an essential service that families should not miss out on. Initially it can help a family understand if genetic testing is necessary for their child and/or children. It can then explain the various testing options available to a family for their child. 

Based on the family’s known medical and genetic history, as well as the child’s specific symptoms, genetic counseling can make recommendations for specific genetic tests. They can explain the process involved in each genetic testing for a baby and genetic testing for children option, and what the test results might reveal. 

Genetic counseling also provides crucial information and knowledge about rare diseases, including the options for intervention, support and treatment for a child. With this information will also come emotional support for a family facing a diagnosis in their child, and this will also include understanding the potential risk of future children developing the same condition. 

Genetic counseling will also help coordinate the different types and levels of medical support, intervention and treatment for a child facing a genetic diagnosis. 

The childhood genetic diagnosis process can be a complicated, and difficult one, for the families and children involved. Receiving a rare disease diagnosis for a child, can be initially devastating for a family, as they try to make sense of the diagnosis, and come to terms with the long term care needs of their child. Genetic counseling is essential in supporting families through this process, and beyond a diagnosis too. 

The process of speaking with a genetic consultant will allow you and your loved ones to navigate certain symptoms that could potentially be signs of a rare genetic syndrome including Acrocallosal syndrome and others. Speaking with a professional can help tremendously in the process of diagnosing and treatment. If you have any concerns, please book an appointment with a genetic counselor today.

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