Baby faces to improve early diagnosis of rare diseases

Dr Cathryn Poulton with Sofia Akram being held by mother Valda
Dr Cathryn Poulton with Sofia Akram being held by mother Valda

IN a world-first, a database of baby faces photographs collected at Fiona Stanley Hospital will be used to help improve early diagnosis of rare diseases.

The ‘baby face’ photographs will be used to identify subtle markers of rare diseases to ultimately create a tool so doctors can diagnoses rare diseases earlier.

Patients can currently wait years for a diagnosis and in up to half of cases, the initial diagnosis will be wrong.

These diseases also have a disproportionately large impact on the health system.

There are enough children in WA with a rare disease to fill Optus Stadium, with 63,000 children affected.

Paediatric registrar and researcher Cathryn Poulton hopes to photograph 200 babies who do not have a prior diagnosis of a rare disease, over a one-year period.

“Families are all very supportive and happy to be involved – I haven’t had a no yet,” she said.

“Pictures can be taken any time – asleep or awake and are being done in mum’s arms, or car seat or pram.”

She is not looking at any particular facial features at the moment but in the future will look at asymmetry, distance between the eyes, shape of nose, mouth and lips and distance between the base of nose and upper lip and other features.

Algorithms will be created but will be for including, and not limited to, chromosomal abnormalities.

Her research has been supported by a Registrar Research Fellowship, one of 10 awarded by the State Government in the second round of the program.

Health Minister Roger Cook congratulated Dr Poulton on her award and commended her commitment to this field of research.

“This research could ultimately help ensure people with rare diseases are diagnosed earlier, enabling them to begin treatments earlier and have a better chance of improvement in their condition,” Mr Cook said.

Full list of fellowship recipients
1. Dr Samara Baldwin, of Fiona Stanley Hospital to promote a peanut introduction project to prevent allergies and a trial of a rapid referral clinic for infants with eczema.

2. Dr Riti Chetty, of Royal Perth Hospital to lead an imaging study to be embedded in a hypertension trial.

3. Dr Navin David Palayoor, of Sir Charles Gairdner Hospital will contribute to gynaecological cancer research.

4. Dr Jeremy Hickey, of Sir Charles Gairdner Hospital will work with the Heart and Lung Research Institute on a pilot study in a rodent model regarding supercooled storage for the extended preservation of hearts.

5. Dr Jan Ho, of Sir Charles Gairdner Hospital, will lead the an assessment of the protective effects of a diabetes medication if used as an anti-hypertensive.

6. Dr Teng Fong Ng, of Royal Perth Hospital will be integral to the development of a database of WA patients with multiple myeloma.

7. Dr Mon Ohn, of Princess Margaret Hospital will be primarily responsible for the 19-year-old follow-up of the West Australian Lung Health in Preterm Children cohort.

8. Dr Shereen Paramalingam, of Royal Perth Hospital will play an integral role in the Preliminary validation of Sheer Wave Elastography (SWE) in Muscle project.

9. Dr Ranita Siru-Sabatino, of Fiona Stanley Hospital will take a lead role in co-ordinating the project, “Do patients with Foot Ulceration and Type 2 Diabetes have Cognitive Impairment and lower levels of Self-care Behaviour? This project will involve patients from both Fremantle and Fiona Stanley hospitals.