Genetic Disorders in Children

Genetic Disorders in Children
What is a genetic disorder?
We all know that our DNA are the building blocks that make up who we are. Each DNA strand is a delicate spiral that is connected through chains. All it takes is a slight mutation to cause a genetic disorder. The severity of the disease depends on the severity of the mutation. The abnormalities can range from a slight change in a single gene to the addition or subtraction of entire chromosomes. For example, someone with down syndrome has an extra chromosome in their DNA that causes their symptoms whereas someone with 22Q deletion has a slight breakup in the formation of the 22nd gene in the strand. These mutations are most often caused by an error in the cell division either before or after an embryo forms in its mothers womb. However, sometimes a parent has an extra Y or X chromosome that can cause their child to have inadequate sex chromosomes in their makeup.


  • Approximately 4 million babies are born each year. About 3 to 4% will be born with a genetic disease or major birth defect.
  • Approximately 1% of all babies will be born with chromosomal abnormality, which can cause physical problems and mental retardation.
  • More than 20% of infant deaths are caused by birth defects or genetic conditions (e.g. congenital heart defects, abnormalities of the nervous system, or chromosomal abnormalities).
  • Approximately 10% of all adults and 30% of children in hospitals are there due to genetically related problems.1

What Now?
So you found out that your child has a genetic abnormality, now what? Most likely you are currently sitting in a fog of shock and information overload. Most of what the doctor said went over your head and you feel overwhelmed and don't know where to start.

Step 1: Educate Yourself!
There is nothing better you can do for your child than to educate yourself regarding their specific abnormality. You are going to be their advocate, how can you speak on their behalf when you don't understand what is going on? There are countless resources available on the web and from your pediatrician or doctor's office. Gather everything you can and research, research, research. You are building your arsenal, find out what works for other parents and glean off of them.

Step 2: Take Advantage of Your Local Resources
Most communities have a resource center full of helpful information and nurses who will come to your home and help monitor your child's progress. They will work together with you to determine whether your child needs the help of a speech therapist or physical therapist along the way and give you peace of mind that you are truly doing everything you can.

Step 3: Register your Child
In Canada, you can register your child as disabled and receive subsidy for their care and/or equipment. Look into this option no matter where you are. If you are going to have to buy a wheelchair or renovate your house to be more accommodating, you will need all the financial help you can get.

Step 4: Build a Support System
You will need support. Go to your "society webpage" and find a forum that relates to your specific issue. Talking with other parents, many who have been doing this a lot longer than you and have tons of great advice, is both helpful and encouraging.

Resources for More Information

The web is your playground, there are so many different websites that are full of information. Here are just a few of the ones I found.

22Q Deletion:
Down Syndrome:
Klinefelter Syndrome:
Turner Syndrome:
Prader-Willi Syndrome:
Angelman Syndrome:

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