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Rare Genetic Disorders

What are they?

There are many conditions, like ASD and Down Syndrome which are reasonably common and relatively easy to diagnose. However, there are thousands of Rare Genetic Disorders, some of which may only affect a few people in the country.

These disorders may cause a combination of developmental delays, physical problems and intellectual disabilities.

When a condition is rare, it can be difficult to find someone who can correctly diagnosis the disease. Often parents spend years dealing with competing theories as to the nature of the condition. Even when a condition has been adequately diagnosed it may be hard to find experts experienced with the condition. Little may be known about the most effective treatments or the likely prognosis.

On the positive side, even without having a clear diagnosis it can be clear what therapy is required, and work in confidence that the therapy can help.

What causes them?

Genetic disorders can be caused by having too many or too few copies of a chromosome; they can be caused by missing pieces of a chromosome, or places where a chromosome are reversed or misplaced. These errors typically occur during the complicated process of cell division.
Genetic disorders can also be caused by errors in a specific gene or a number of genes.

Treatment considerations

The therapies offered by Children’s Support Solutions can help with physical, behaviour and emotional problems. The appropriate mix of therapies depends on the specific condition.

Developmental considerations

Since genetic disorders may cause a wide range of medical issues it is important to be alert for problems.

Looking down the road

It is never easy to predict how someone’s life will turn out and this is especially true in the case of Rare Genetic Disorders. However, we do know that with appropriate support people can overcome significant barriers and lead rich lives.

 

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