FAQs about genetic disorders

What is a genetic disorder?

A genetic disorder is caused when a child is missing a gene or has a gene that doesn’t work as it should.  There are several different changes or 'mutations' that can happen to a gene.

Sometimes these changes occur in their DNA and are a bit like spelling mistakes in their genetic make-up.  There are 'point mutations' when one letter is swapped with another, or insertions, deletions or translocations when several letters are added, missing or just in the wrong place in the sentence.

There can also be changes in a child's chromosomes.  A baby could be born with extra or missing chromosomes or chromosomes that are incomplete.  Sometimes these changes in a child’s genetic make-up have no effect on their health.  In fact we all have several of these in our own bodies.

All of these changes in a child's genes may be inherited from one or both parents, or they may occur randomly at conception.  They cause genetic disorders which range from conditions which are relatively easy to treat like a cleft lip, to life threatening immune deficiencies which leave babies with no natural defence against infection. 

There are more than 4,000 recognised genetic disorders and many have no known treatment or cure.

How do I get tested, where can I get genetic counselling?

If you have a genetic disorder in your family or you’re concerned your child may have one, the first person to talk to is your GP.  He or she can then refer you to a genetic specialist.

Genetic consultants and genetic counsellors are trained to specifically identify and diagnose genetic conditions.  They take a very detailed history of your family’s health and they might also suggest simple blood or urine tests.

Genetic counsellors can establish the potential risk of a disorder being inherited by your children and can help you work through difficult decisions.  To find a genetic centre in your region, ask your GP or visit the British Society for Human Genetics' website.

Who can I talk to about my child’s genetic disorder?

The first thing to know is that you are not alone.  Although you may have never heard of this condition there are no doubt other families going through the same thing.

Your GP is the best person to talk to initially, or your genetic specialist.  He or she may be able to answer your questions or they may have details of a support group.  These groups can be a great source of support, from a listening ear to practical advice for day to day life.

Does Jeans for Genes support my child’s condition?

Jeans for Genes ultimately wants to improve the life of every child with a genetic disorder.  This is why we support a wide range of charities, and we aim for that range to grow each year.

But all of this work furthers scientists’ knowledge into the genes in our bodies and how they behave.  This knowledge is shared amongst the medical community, so although your child’s condition might not be featured in this year’s campaign, you can be sure that ongoing research is taking us ever closer to understanding the causes of that condition and finding a treatment.