Genetic Disorders

Jeans for Genes aims to help people that have problems with their health because of a faulty or missing gene.

Genes are the recipes for building life. Genes determine our eye colour and colour of our hair. However, when one of the ingredients is missing or not quite right this can sometimes mean our bodies do not function normally.

Did you know that there are currently over 4,500 genetic conditions affecting 1 in 25 people in the US. Although these numbers are staggering, what is of even greater concern is that approximately 75% of those affected are children, making this disease category one of the most deadly and debilitating for our country's children

Living with a Genetic Condition

Chronic Granulomatous Disorder (CGD) is just one example of a genetic condition that can make every day life difficult for an affected family.

Although this condition might not be familiar to you the feelings of isolation, living with the unknown, the need for someone to be on your side, the longing for research to provide help may resonate with you.

There's always the feeling that you don't quite know what will happen...

One minute he's alright, the next minute...

As a result of a genetic defect in the white blood cells children with CGD cannot fight off certain bacterial and fungal infections, so they suffer serious illnesses and life-threatening complications.

Chances are that they will fall prey to a variety of problems - such as rare pneumonias, infections, inflammation and abscesses on organs like the lungs and liver.

Daily prophylactic (preventive) drug therapy is necessary to keep infections and inflammation at bay. At present curative treatment is with bone marrow transplant, but this is not suitable for everyone. It is hoped that gene therapy will soon provide another curative treatment option and a number of clinical trials are soon taking place in Europe and in the USA. In this instance, gene therapy means taking cells form the patient and replacing the defective gene inside the cells with a new, fully functioning gene before the cells are returned to the patient.

Life for affected families is very stressful. Parents are torn between not wanting to 'wrap their children cotton wool' while wanting to minimise exposure to dangerous sources of infection, such as fungal spores carried in building dust or grass clippings.

In addition, parents find that most people, including most doctors, have never heard of CGD. People affected by CGD look just like you and me, so other people find it difficult to understand. One mother explains:

"I've had a lot of people think I'm putting it on...because to look at him, apart form being weedy, tiny compared to everyone else, who knows there's anything wrong with him? I get very, very tired having to keep explaining myself."

As for many genetic disorders, much more work is needed to find improved treatments for CGD. Jeans for Genes is helping us pioneer ground breaking research.

We want to share the Jeans for Genes campaign with other charities to help raise money to stimulate research and support for families affected.

Tell us your stories about the genetic condition that affects you or someone you know.

Get in touch about joining us. Your support will help fund research that will help sick children everywhere, in the USA and throughout the world.

You can help us now: donate today





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