Pcd rsph4a compound heterozygosity - PCD Family Suppor...

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Pcd rsph4a compound heterozygosity

Olja profile image
Olja
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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.

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Olja
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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

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