What primary ciliary dyskinesia is like for me

Meet Rachael, a civil servant and part-time student, who tells us how a genetic condition called primary ciliary dyskinesia affects her life

Tell me a little about yourself

My name’s Rachael, I’m 22, I work full time as a civil servant and I’m studying maths part time. I’ve got a genetic condition called primary ciliary dyskinesia (PCD).

What is PCD?

PCD involves cilia, which are tiny hair-like projections found on cells, particularly those in the respiratory tract and ears. Their main function is to sweep the secretions out of the lungs. If you have PCD the cilia don’t work, so this means that I’m more susceptible to chest infections. I wear a hearing aid because I’m hard of hearing.

When did you know you were affected by this?

I wasn’t diagnosed until I was four. Doctors kept trying to test me for cystic fibrosis, but I was negative for that. They didn’t know what was wrong with me, and they obviously hadn’t come across PCD, which is quite a rare condition. Neither of parents nor my sister have it. We think a few generations back there might have been a few people affected, but obviously they wouldn’t have been diagnosed with it because it wasn’t known about then.

What do you understand about the medical causes?

Both parents need to carry an abnormal version of a particular gene for PCD to be passed on. In this situation, there’s a 1 in 4 chance that a child will be healthy, a 2 in 4 chance that it will be a carrier, and a 1 in 4 chance that it will be affected.

If you do, how do you explain/describe your condition to other people?

I usually say it’s a genetic lung condition that means I’m susceptible to chest infections. I also mention that I have hearing problems. I try and keep descriptions quite short, there’s no point going into it.

How does it affect your life?

I try and carry on as if it isn’t there, as much as I can, but I have had issues with employment in the past. In my previous job I was off sick quite often and I ended up with a verbal warning about my absence. I’m not very good if I’m working shifts or things like that because I need routine. The more routine I’ve got, the healthier I am. With the degree I’m studying now I hope to move into teaching, so again, I need to make sure I’m working the best sort of hours.

On a day-to-day basis, I have to do physiotherapy twice a day to help loosen the secretions in my lungs and cough them up. Some people with PCD have to take antibiotics on a regular basis to get rid of the infections in their lungs, to try to avoid permanent lung damage called bronchiectasis.

What is the most difficult thing about being affected by PCD?

Some doctors don’t even know about the condition. When I have appointments, I’m often the one telling them what medicine I need and everything like that. I take a lot of responsibility on for my treatment. It’s quite frustrating. Sometimes, for example, they insist you have asthma, even though I use an inhaler for something else. It’s a constant battle to get the right treatment.

Are you a member of any kind of support group?

Until the start of 2009 I didn’t, as an adult, have any contact with people who have PCD. Since, I’ve joined the PCD Family Support Group. They hold a day-long meeting every June for people to get and share advice and ideas – it’s been quite helpful. I also belong to the Genetic Interest Group, GIG, which is an alliance of different charities for people affected by genetic disorders.

 

The essentials  primary ciliary dyskinesia

How common?

Around 1 in 15,000 people – an estimated 3,000 in the UK; males and females affected equally. The incidence is higher in populations that favour consanguineous marriages [those between people related by blood].

Major effects:

Recurrent ear and chest infections, infertility (half of all male patients are infertile, females sometimes have impaired fertility), situs inversus (half of all patients have the symmetry of their inner organs reversed, with no apparent health effects)

Causes:

Mutations in one of eight genes currently known to be associated with PCD.

Is it inherited?

Yes, in an autosomal recessive manner. This means you need to inherited a mutated form of the gene from both your mother and father. The mutated genes are carried on autosomal chromosomes – those numbered 1 to 22 – rather than X or Y.

Is a prenatal genetic test available?

Not currently.

Further reading

About this resource

This resource was first published in ‘Genes, Genomes and Health’ in January 2010.

Topic:
Genetics and genomics
Issue:
Genes, Genomes and Health
Education levels:
16–19, Continuing professional development