Pcd rsph4a compound heterozygosity - PCD Family Suppor...

PCD Family Support Group (UK)

610 members301 posts

Pcd rsph4a compound heterozygosity

Olja profile image
Olja
1 Reply

Hello. My daughter is 2 years and 4 months old and genetic testing has determined that she has 2 heterozygous mutations in the Rsph4a gene, diagnosed with Pcd. Does anyone have experience with this? We do inhalations and physiotherapy. Tympanogram type As, but does not speak well. She had frequent respiratory infections, a wet cough, a diagnosis of non-allergic asthma. Sorry, my English is not good. Thank you in advance everyone.

Written by
Olja profile image
Olja
To view profiles and participate in discussions please or .
Read more about...
1 Reply
Morrison10 profile image
Morrison10

Hello, sorry to hear about your daughter, I have PCD, am 86, wasn’t diagnosed until 32. Have managed with antibiotics to have active life until recently. Good luck. x

You may also like...

Is it PCD?

helped. She shas moments when she coughs a little and moments when she coughs continously. She...

PCD Management Advice

people who have children with PCD so my question is about the management of PCD. My children are on...

PCD/Bronchiectasis and headaches

Hi everyone, I have PCD and bronchiectasis and regularly get headaches which stems from my shoulder...

Extreme sneezing typical of PCD?

asked my daughter's doctor this before, but was told it was likely due to allergy. Yes she does...

PCD Adult Service in Cumbria?

My son is 23 and was diagnosed with PCD at 13. Last year was his best as he was on Azithromycin...