A clinicians guide to early diagnosis of PCD - when common symptoms mean so much more!

Play Video

$20,000

Prizes

6,601

Views

1. Summary of your project

This project aims to develop an educational resource for medical staff to aid in the early and accurate diagnosis of the progressive lung disease PCD. In addition resources will be developed to assist treating physicians understand the basics of targeted treatment for this condition as well as the array of possible presenting symptoms. PCD presents with common respiratory symptoms such as cough and sinusitis and is often overlooked when patients with these symptoms are seen. Increased knowledge of the specific suggestive points of PCD will help alert doctors to the possibility of PCD and direct patients to specific diagnostic settings.

2. Outline of your proposal

Primary Ciliary Dyskinesia (PCD) is an uncommon but progressive airway disease which untreated causes significant morbidity including irreversible lung damage, severe sinusitis and progressive deafness. A major challenge to early diagnosis is that many presenting symptoms including chronic cough and recurrent otitis media are also present, often frequently, in otherwise normal children and adults. Several specific suggestive diagnostic points have been identified and targeted questioning about these features would help medical personnel identify which patients would appropriately be referred for specific diagnostic testing at one of the 3 diagnostic centers in Australia in Perth, Sydney and Melbourne. Delay in diagnosis results in increased symptoms and deterioration in lung health. Increased medical awareness of the condition will shorten the time to diagnosis and minimise lung health deterioration. A significant number of patients diagnosed with PCD each year are of adult age and awareness of this condition is equally important for medical personnel involved in assessing adult patients with progressive lung disease


An online educational resource will be developed to increase medical awareness of suggestive symptoms as well as referral directions for diagnostic testing. A section will also be developed to explain the detailed diagnostic pathway that occurs at the diagnostic centers.


One of the major challenges facing people diagnosed with PCD is the lack of medical knowledge about specific therapy aims for PCD. While it is recommended that patients with PCD are supervised by PCD experienced medical personnel our data suggests, particularly in the adult PCD population, that medical personnel with specific knowledge of the condition and aims of targeted treatment are often difficult to identify. The planned on-line resource will contain suggestive points for treating medical staff on the basis of PCD specific treatment, including issues such as "when should I start antibiotics?" Why don't the antibiotics clear up my cough", "How often should I have my hearing tested?" "Should my child have ear vent tubes inserted?" While these issues are often part of the treatment plan of similar conditions such as Cystic Fibrosis or non CF bronchiectasis there are specific issues that need consideration when they occur in PCD that medical personnel and families should be aware of.


The resource will be developed in conjunction with the three PCD treatment centers in Australia in Perth, Sydney and Melbourne with the assistance and advice of PCD Australia. As principally the resource will aimed at medical people involved with PCD diagnosis and treatment it will be positioned on a stand alone platform that will allow linkage from any medical site such as GP training platforms, TSANZ clinical guidelines, local health services or hospital clinical practice guidelines. It will also be referenced on the PCD Australia website as a resource available for medical personnel.


PCD is increasingly being diagnosed as improved access to diagnostic facilities and increased medical awareness of the condition occurs. While relatively uncommon, evidence from international studies suggests that with improved access to diagnostic facilities the number of cases of PCD will not only increase but the actual incidence of PCD will become better defined and generally more frequent than previously identified. Increased medical awareness of PCD and wider understanding of the principals of specific treatment issues in PCD will improve lung health for patients with PCD by providing earlier diagnosis, earlier initiation of targeted therapy and avoidance of ineffective therapy.


Funds available if this application is successful would be allocated to development of the web platform and preparation of the actual content of the resource including video recording and editing.


References;

1) Towards an earlier diagnosis of Primary Ciliary Dyskinesia?

Kuehni CE, Lucas JS.

Annals of American Thoracic Society 2016; 13(8);1239


2) Diagnosis of PCD; potential options for resource poor countries

Rumman N, Jackson C, Collins S, Goggin P, Coles J, Lucas JS.

European Respiratory Review 2017; 26(143)


3) When to suspect PCD in Children

Fitzgerald D, Shapiro A.

Paediatric Respiratory Reviews 2016; 18:3-7


4) Primary ciliary Dyskinesia in Adults

Honore I, Burgel PR.

Revue des maladies Respiratoires 2016: 33(2) 165-89.


5) PICADAR: A diagnostic predictive tool for primary ciliary dyskinesia

Behan l, Dimitrov BD, Keuhni CE, Hogg C, Carroll M, Evans MH, Goutaki M, Harris A,

Packham S, Walker WT, Lucas J.

European Respiratory Journal 2016 47(4) 1103-12.




 

Comments

7
Fiona Copeland
almost 2 years ago

A great proposal - as a parent of two boys with this condition I really support anything that can help patients get an early diagnosis.

Ajay Kevat
almost 2 years ago

Fantastic initiative

Janet Bourke
almost 2 years ago

As a parent of a young adult daughter with diagnosed PCD fairly late in her life, this proposal will greatly assist PCD patients with crucial early diagnosis

Catherine Kruljac
almost 2 years ago

As I am a PCD patient I support this - I had countless test and was not diagnosed until I was 11 - a lot of damaged to my lungs and want to see earlier diagnosis .

Paul Griffin
almost 2 years ago

Early diagnosis, through increased knowledge from medical professionals etc, will absolutely lead to better outcomes and life quality for the patients.

Sharon Dell
almost 2 years ago

There is a huge need for this project to educate the medical community about when and how to test for PCD. It is shameful that the average age of diagnosis is 18 years when the disease usually presents with symptoms right at birth and half of the time could be picked up by laterality defects detected on prenatal ultrasound. The inequity in health outcomes for this disease are astounding when one compares this to another rare genetic lung disease, cystic fibrosis, that gets diagnosed almost uniformly at birth through neonatal screening programs and where education and research have led to improved diagnosis and prolonged survival. It is time to have improved health outcomes for our patients with PCD!

Moya Vandeleur
almost 2 years ago

Best of luck. This is a fantastic idea. In the absence of neonatal screening, raising awareness through engaging and accessible medical education initiatives is surely key.

P 5279de1aea9b175d774728a5897c02cec4e5b0c4151bdde2a2b881f41f9e4487

Dr Phil Robinson is a pediatric lung specialist at the Royal Children's Hospital in Melbourne Australia. In 2013 he established a state wide diagnostic service, only the second in Australia, for th...

Recent Voters