Primary Ciliary Dyskinesia
Primary ciliary dyskinesia (PCD) is a rare, inherited condition where individuals are born with cilia (tiny hair-like structures) that either do not function properly or are completely absent. Cilia typically help clear mucus and particles from the airways, so their dysfunction can lead to respiratory problems.
Through CF Norway, PCD patients can connect with others in similar situations and access valuable, professional information through a unified channel. PCD falls under CF Norway because primary ciliary dyskinesia is managed in a similar way to cystic fibrosis.
What Does PCD Mean?
- Primary: Indicates that the condition is genetic and not caused by external factors. PCD is hereditary.
- Cilia: Derived from Latin, meaning "vibrating hair." In Norwegian, cilia are referred to as "flimmerhår." The body has cilia in various locations, such as the airways and reproductive system. Cilia are very small and can only be seen under a microscope.
- Dyskinesia: Means "poor movement ability" or "disorganized movement."
What causes PCD?
Primary ciliary dyskinesia (PCD) is an inherited condition where individuals are born with cilia that do not function normally or are missing altogether. Cilia are present on the surface of the airways, including the nose, sinuses, throat, bronchi, and lungs. Healthy cilia are constantly active, helping to move excess mucus up from the lungs and out toward the nose and sinuses.
When the cilia do not function properly, the mucus produced remains stagnant and accumulates. This leads to mucus plugs in the airways, obstructing airflow, and a similar issue occurs in the nose and sinuses. Stagnant mucus also creates a favorable environment for bacterial growth, resulting in frequent respiratory infections for individuals with PCD.
Common Symptoms of PCD
Persistent “cold-like” symptoms and lung infections
In healthy individuals, cilia create a coordinated "wave-like motion" to clear bacteria and small particles from the lungs and up into the throat.
In someone with PCD, cilia do not function as they should. They may beat too quickly, too slowly, or in an uncoordinated manner. As a result, the body takes longer to expel mucus, allowing bacteria and particles to remain in the lungs, which increases the risk of infections.
This often leads to cold-like symptoms. However, this is not a common cold but rather a chronic buildup of mucus in the airways, which, without proper management, can lead to frequent bacterial infections. Most PCD patients experience this constant, cold-like condition.
Gea Restad, mother of a child with PCD and a trained nurse, along with Ann-Cathrin Linqvist Leonardsen, has written an article titled "Frequent Respiratory Infections Could Be a Symptom of an Inherited Disease" in the journal Sykepleien. She writes, “Children who are constantly ‘cold’ may have the rare disease primary ciliary dyskinesia. The path to a diagnosis can be long, and some parents feel that they are not taken seriously by healthcare professionals.” She further describes parents’ experiences with the challenges of being taken seriously and obtaining a diagnosis.
Questions and Treatment for PCD
For questions about diagnosing and treating PCD, individuals can contact theNorwegian Center for Cystic Fibrosis (NSCF) at Oslo University Hospital. NSCF is a specialist center for patients with PCD. Along with Rikshospitalet, the Norwegian Center for Cystic Fibrosis provides treatment for PCD. Local hospitals and general practitioners are also important for PCD patients.
Why is PCD under cfnorge.no?
Cfnorge.no is the website of the Norwegian Cystic Fibrosis Association (NFCF). Patients and relatives with PCD have chosen to be part of NFCF and cfnorge.no because the two conditions share significant similarities in terms of symptoms and treatment, allowing for shared experiences and treatment needs. Primary ciliary dyskinesia is treated like cystic fibrosis, even though there is no definitive evidence that this is effective.
By being a subgroup of NFCF, PCD patients and their families in Norway benefit from a unified support system, the opportunity to connect with others in similar situations, and access to quality, professional information through a common channel. We also aim to collaborate with the Norwegian Center for Cystic Fibrosis to raise awareness about the disease and develop a comprehensive treatment approach.
What Services Does NFCF Offer to PCD Patients and Their Families?
- Peer Supporters: NFCF has a well-established peer support program that PCD is already part of. We have two peer supporters who can be contacted for an informal and supportive conversation about all aspects of being a patient or caregiver. These peer supporters are members of the association with practical experience from living as a patient or caregiver.
- Closed Facebook Group: PCDhas a dedicated Facebook group for patients and caregivers. A moderator ensures that posts and discussions adhere to NFCF’s guidelines, and peer supporters are active members who answer questions or reach out outside of the main page.
- Annual Meeting and Training Weekend: Every April, the annual meeting and training weekend is held. This event brings together people of all ages for a pleasant weekend focused on education about the diseases (CF and PCD) through relevant topics and speakers. The weekend also serves as a social venue where participants can meet interesting people and share experiences.
- Wellbeing Events: NFCF organizes several events throughout the year to provide members with opportunities to enjoy themselves with others in similar situations. These events are spread across the country and are organized by the regions.
Relevant Articles on PCD
August 2020:"Primary Ciliary Dyskinesia is Underdiagnosed"– An article on PCD from the Norwegian Center for Cystic Fibrosis.
August 2020:"Chronic Wet Cough in Children Could Be PCD"– An article on the Expert Hospital blog by Suzanne Crowley.
Read the article onPrimary Ciliary Dyskinesia in the Journal of the Norwegian Medical Association. The article is written by Suzanne Crowley, Senior Consultant at Rikshospitalet and the leading expert on PCD in Norway.
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