Rare Disease Day

What is Rare Disease Day?

Rare Disease Day is a day to recognise the many people in the world living with conditions that are life threatening or debilitating and affect less than 1 in 2,000 people. The first global event was held in 2008.
This year Rare Disease Day is acknowledged on the 28th February 2022 to raise awareness of people living with a rare disease and to provide an opportunity for individuals and organisations throughout the world to discuss impacts and to develop policies to support people and families living with a rare disease.
There are many causes for a rare disease but the most common are genetic conditions (around 75%).
As these conditions are rare it is often very difficult to get a diagnosis as medical practitioners may have never seen a child or adult with that condition before.

My Journey with Rare Conditions

I started my career as a Pediatric Physiotherapist in 1979.

The first time I remember seeing a child with a rare condition was in 1981 when I was working at the Children's Hospital in Adelaide.

I was treating this little girl who had an unknown genetic condition that looked like muscular dystrophy. The doctors did every available test known at the time but could not get answers.

It became obvious that her condition was progressive and she passed away within 2 years. I still remember the grief of all involved in her case.

From there I have endeavoured to assist parents when they are seeking answers for their child's condition.

What support does Therapies For Kids (TFK) provide?

At TFK we:
  • Listen to parents/caregivers as we embark on this journey together
  • Encourage parents/caregivers to seek expert advice and be involved in any research
  • Work closely with parents/caregivers to provide therapy and support on an individual basis for their child
  • Provide their child a friendly enriched environment and continue to seek the best current knowledge on rare diseases and their treatments

My role at TFK

Over the years, as I have developed the understanding of the impact of trying to find a diagnosis for a child with a rare condition, I have tried to be available to listen whenever a parent/caregiver needs assistance.

Many times parents/caregivers just need to be able to talk to someone who can be objective but who has had experience with medical practitioners and the language that is so new, unknown and defines the child in a new way.

I feel that it is so important to reassure the parent/caregiver that I do not see their child as a diagnosis but as an individual who needs to be recognised for their unique characteristics.

Sometimes just asking "how are you doing?" is enough to allow a parent/caregiver to express their thoughts and concerns for their child.

I hope that I can continue to provide parents/caregivers support at TFK.

Group

Leave a Comment