Diagnosis and inheritance

Can we have more children?

When you are hoping to start a family or to have more children, talk to your doctor/ CGD clinical nurse specialist/a counsellor in genetics. They will talk through the chances of your baby being affected by CGD and discuss other concerns you may have.

If you discover that you are pregnant, get in contact with your doctor or the CGD clinical nurse specialist as soon as possible.

Find out more about CGD and having a baby.

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My son is 5 and has rarely been sick but has lost weight and has had loose stools for about a year. The doctor has found granulomas on his bowel following a colonoscopy and now wants to test for CGD even though no other symptoms are present. Is there reason for concern and is it necessary to do the test?

This is a sensible decision on behalf of your doctor. CGD patients usually have more symptoms and these are often more severe but mild CGD cases and some restricted to gut involvement have been described. This test is worthwhile to rule out or confirm CGD so that your son can get the right treatment. 

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Have I done anything to cause this? Is it my fault?

It is absolutely not your fault. You could not have done anything to cause or prevent CGD. It occurs when the gene responsible for fighting off certain bacterial or fungal infections doesn’t work properly or if it is missing.

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How will it affect my child?

Different people experience different symptoms.  Common signs and symptoms of CGD include:

• abscesses
• diarrhoea
• boils
• sore skin
• oozing or scaly skin and rashes
• ulcer-like sores
• gum disease
• local areas of pain and tenderness
• sores near the anus
• swollen lymph nodes
• fever
• persistent cough
• failure to thrive.

Find out more about CGD symptoms.

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I think I/my child have/has CGD. Are there any tests to diagnose this or rule it out?

Symptoms of CGD are common to many other conditions and so it is important to get tested as soon as possible if you think you or your child has the condition. Then you’ll be able to get a CGD diagnosis or rule it out. The tests are simple. A positive diagnosis will help you receive the right treatment.

Find out more about how CDG is diagnosed. 
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I’ve never heard of CGD before – what is it?

CGD is a rare, genetic blood disorder which affects the immune system. About four to six people in every million are affected. People with CGD are unable to fight off certain fungal and bacterial infections. This makes them vulnerable to serious illness when they’re exposed to sources of infection such as fungus from leaves or compost. People with a fully-functioning immune system wouldn’t be harmed by similar exposure.

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Is CGD inherited?

Yes, CGD is an inherited condition. About 60-70% of cases are due to the transfer from a mother to son of a defect on the X chromosome.  Other cases are due to inheritance of a faulty gene from both parents. This form of CGD can affect both males and females.

Find out more about the inheritance of CGD

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Is there a test for CGD?

Yes. Two tests are currently used to diagnose CGD. These are called the nitroblue-tetrazolium (NBT) test and the dihydrorhodamine (DHR) test. Both rely on finding out if blood cells are able to produce the chemical bleach needed to kill microbes.

Read more about how CGD is diagnosed

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