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Points for Reflection

Being able to provide a name for a genetic condition can be a huge relief to individuals and families. In several of the stories on this website, you will come across parents of affected children who speak of their relief at being given a diagnosis. As Philippa explains, once the family had received a diagnosis and the relevant information, they felt they could move forward.

1. Think about whether you can recall any instances you might have encountered in your professional practice when receiving a diagnosis has helped a patient and their family to move forward.

2. Consider what support you might be able to offer to clients and their families during the uncertainty of the diagnostic process.

3. If a diagnosis has been confirmed, think about how you might be able to support a family with regard to informing other, non-immediate, family members.

Activities

1. In this story, a young boy is brought into hospital for tests to see if he has a cancerous growth in his chest. The tests have come back negative, ruling out Non-Hodgkin’s lymphoma as the cause of the growth. Imagine you are the staff member in charge of this case. How would you determine the next step? What sources of information and advice would you consult?

2. The mother describes the chances of this condition occurring as being "one in a million" as an indication of its rarity. The CGD Research Trust and Support Group list the incidence level as 1:250,000. Philippa was tested and found to be a carrier for X-linked CGD, which is inherited in an X-linked recessive manner. If a carrier female such as Philippa and an unaffected male decide to have a child, there would be a 50% chance of any male children being affected by the condition, and a 50% chance of any female children being carriers of the condition.

a) Imagine that you are involved in a consultation with a couple who have one affected child. How would you explain the risk of having another affected child?

b) Philippa doesn’t say if her twin sister is an identical twin. If not, what are the chances that her sister might also have inherited the altered gene?

Quotes

"at last we had a name and information on this rare condition and we could move forward to dealing with it."

"We are so grateful to all the consultants, surgeons, nurses, play specialists, who put their motto: 'he child first and foremost' to great affect."

Further information

CGD Research Trust and Support Group

Online Mendelian inheritance in Man (OMIM) - X-linked CGD

Medline Plus - US National Library of Medicine/National Institutes of health - CGD


Location: The Stories
Transcript

You can download the full transcript here

"At last we had a name": Philippa’s story
A mother’s account of her son’s chronic granulomatous disorder - an X-linked condition

My son was born through a normal delivery. As a baby, we didn’t notice anything particularly out of the ordinary, although occasionally, he had a swollen neck and the doctors put it down to gland trouble, probably caught from a bug at play group!

He was a normal toddler but one day, the antenatal group thought he looked a funny colour and was getting tired very quickly. I took him to the doctors and they referred him to the local hospital where a general check up was done. Nothing seemed to worry them too much and they said to return if anything changed.

We then went to Spain the week later and noticed a large vein had appeared on his chest and abdomen that was not there before. On getting home, I returned to the doctor who sent us back to the local hospital. We immediately went for a chest x-ray where they discovered a large mass on his chest. Initial thoughts were Non-Hodgkin’s lymphoma and we went straight away by ambulance to our local hospital. Following extensive tests and biopsies, it was concluded that the mass was not cancerous. We then saw each and every relevant department in the hospital to try and discover what the condition could be. On seeing the immunology department, the consultant asked about family health, illnesses and unusual conditions etc. and if I the mother suffered a lot of mouth ulcers. I said I do suffer from them a lot, especially if I am run down. I then had a blood test and it was discovered that I was the carrier of the genetic condition X-linked chronic granulomatous disorder (CGD). A rare one in a million disorder, passed on through the blood line: a 50/50 chance upon conception of receiving the condition. My twin sister has two boys and fortunately, they have not CGD.

My son is now on anti-fungal and anti-biotic drugs twice a day, to help his immune system fight any fungal and bacterial infections, which could harm him, as his immune system is not as strong as most peoples. He goes to school, plays with his friends etc. but we must alert to him when he goes anywhere where there is dampness, a mouldy environment and the presence of any fungal or bacterial infections that could make him ill. Particular care has to be taken with my son’s personal and oral hygiene and any cuts or abrasions must be dealt with swiftly.

He has regular and one off checks at the local hospital at least every five months - blood tests, echo, CT scans etc and the treatment we have received from all NHS staff has been excellent. We are so grateful to all the consultants, surgeons, nurses, play specialists, who put their motto: 'the child first and foremost' to great affect. We are also lucky that our local hospital is the European centre for CGD.

The one experience I particularly remember is the minute the diagnosis was made: at last we had a name and information on this rare condition and we could move forward to dealing with it.

Improve the care? We were very lucky we could stay in a trust house near to the hospital but not all hospitals have this facility and I think this gives so much help to parents and aids the child’s recovery.