Help for chronic genetic conditions

The Sydney Children’s Hospitals Foundation have recognised Allied Health as a key focus area for 2019, with allied health research projects receiving two out of five Research Starter Grants.

Announced in late December, the prestigious Research Starter Grants were awarded to five researchers from Sydney Children’s Hospital, Randwick including Rebecca Macintosh, Genetic Counsellor and Michael Doumit, Physiotherapist. The grants provide $20,000 to each recipient over 12 months to kick start their research.

The focus of Rebecca's research is to improve resources for children with chronic genetic conditions.

The project, titled ‘Improving Support And Providing Integrated Care For Children With Chronic Genetic Conditions’, will aim to identify the unmet needs of patients and families undergoing genetic testing for chronic childhood illnesses, like epilepsy and kidney disease, with the goal to develop practical resources that accurately address their information and support needs.

“A significant proportion of my time is spent explaining complex medical and genetic concepts to parents of newly diagnosed patients who are often overwhelmed with information,” Rebecca said.

“We are often told that patients and parents are confused by the information they access on the internet or in other resources, and we find ourselves needing to develop our own resources to meet patient’s requests for information and support. That’s what this project is hoped to change.”

For Michael, his research will be centred around providing remote care to children living with cystic fibrosis and their families.

The project, titled ‘Telehealth in cystic fibrosis – replacing visits to hospital outpatients department with multi-disciplinary clinical care delivered directly to the home' will investigate the effectiveness of telehealth in providing care to cystic fibrosis patients living in rural areas, with the aim of reducing the need to travel to specialist centres.

Currently, children with cystic fibrosis are required to visit hospital at least once every two-three months (more often if they are unwell) for specialist assessments and management however, it is hoped this project will help to overcome some of these barriers.

“These regular reviews are important to ensure the child, the family and the care team are all working together to manage the disease. However, for children that live in regional and remote areas, the need to regularly travel long distances produces a significant burden,” Michael said.

“Telehealth is a mode of healthcare delivery that has great potential to reduce this and with the kind support of the SCHF Research Starter Grant, it is hoped that our CF team can develop the capacity to provide thorough assessment and management of children via telehealth.”

The project will trial using telehealth to:

  • train families in accurately measure their child’s lung function in the home with support from a respiratory scientist
  • monitor their child’s growth
  • obtain samples of a child’s lung secretions and send for testing
  • closely monitor children who receive care through telehealth to ensure that their progress is not impacted by less hospital visits

“I feel we have an important role in contributing to the holistic care of children and at times, coordinating and leading this approach. It is my hope that we can show that telehealth is a model of care that allows effective and family focused delivery of care with good outcomes for the child,” Michael said.

Research Starter Grants were also awarded to:

  • Dr Michelle Farrar: 
The use of Omic technologies for the identification of molecular markers in Spinal Muscular Atrophy
  • Conjoint A/Prof Daniel Avi Lemberg:
 Using multi-omics to define the Australian Inflammatory Bowel Disease (IBD) Microbiome – The AIM Study
  • Conjoint A/Prof David Ziegler:
 A new approach to improving medication compliance in patients on maintenance therapy for Acute Lymphoblastic Leukaemia (ALL)

Congratulations to the recipients and thanks to the Foundation for ongoing support.