Imagine having your child having a disease with no known treatment or cure. A disease so rare that they know so little that they as a medical profession can’t answer your questions. A condition that does nt get front page news and so it does not get funding or research. So they those you look to are unable to tell you what to expect or how to ease your child’s suffering. You are literally scrambling helpless in the dark.
There would be no word that could describe your helplessness.
So today the 28th of February is Rare Disease Day.
Rare Diseases are defined as a condition, syndrome or disorder that affects 1 in 10 000 people or less (The Australian Therapeutic Goods Authority).
Some prevalent statistics about Rare Disease include:
- There are more than 8000 known rare diseases
- 80% rare diseases affect children and most begin in childhood and continue throughout life
- Although each disease is rare collectively they affect up to 10% of the population
- Neurological and intellectual disabilities occur in about half of all cases regardless of disease type and lead to loss of independence and opportunities.
- Obtaining a diagnosis is often difficult and delayed and most have no cures
One of our lovely readers Lynda child suffers from Glutaric Aciduria Type 2 . It is a rare disorder so rare they are unsure of its true numbers. What they have discovered through limited funding and research is that is an inherited disorder that interferes with the body’s ability to break down proteins and fats to produce energy. Incompletely processed proteins and fats can build up in the body and cause the blood and tissues to become too acidic which if not constantly monitored can mean death.
Imagine dealing with that on a daily basis.
In Lynda’s words ‘families and carers of children with rare diseases experience significant psychological stress due to social isolation, unemployment, diagnostic delays, lack of information and difficulty accessing appropriate health care.
The rare disease patient is the orphan of the health system, often without diagnosis, without treatment, without research and therefore, without reason to hope’
Place yourself in those shoes for just a minute.
So how can you help Lynda and others in her position, her child’s position?
Head to Rare Disease Australia Face book page or register your support it’s that simple.
xx Deb
Information with thanks:
* information regarding http://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii
** Rare Disease Day
***Image with thanks to the abc
