I went down to Westmead Children’s Hospital today for Liam’s annual review.
A long day all around, with bribes of chocolate and Kinder Surprise eggs only taking so much edge off the tears and the kicks when we made him undress for assessment, or held him down for the x-rays. Because that’s what you do to three year olds to check how they’re going.
While his six month old sister has learned to crawl, and with good pace, when there is food around. Liam left the crusts of this peanut butter toast on his plate, and Ez was after it and had it straight in her mouth.
Same with the cake bits Liam dropped. Ezri’s head turns, spots them, and she’s off!
A rare disease in Australia is defined as one which affects 1 in 10,000 people or less.
There are up to 8000 known rare diseases, the majority have a genetic origin.
Although each disease is rare, collectively they affect up to 10% of the population.
That is up to 2 million Australians of which up to 400,000 children.
Rare diseases can be life-threatening or chronically debilitating.
Most begin in childhood and continue throughout life.
Obtaining a definitive diagnosis is often difficult and delayed, if diagnosed at all.
Neurological and intellectual disabilities occur in about half of all cases regardless of disease type and lead to a loss of independence and opportunities.
Many rare diseases have no cure
In Australia, the Steve Waugh Foundation is dedicated to supporting those with rare diseases and their families, as these kids with ‘orphan’ diseases often don’t fall under established support and funding services.
Dear little nephew Liam is one of the kids who falls under the umbrella of rare conditions, with his Spondyloepimetaphyseal dysplasia. With something the local therapists have never seen, and the specialists only come across rarely, it can be hard to get answers and to know if you’re on the right track with monitoring of development.
It can result in dwarfism, and some vision and hearing difficulties depending on the subtype.
People with this condition have short stature from birth, with a very short trunk and shortened limbs. Their hands and feet, however, are usually average-sized. Affected individuals may have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). This abnormal spinal curvature may be severe and can cause problems with breathing. Instability of the spinal bones (vertebrae) in the neck may increase the risk of spinal cord damage. Other skeletal features include flattened vertebrae (platyspondyly), severe protrusion of the breastbone (pectus carinatum), an abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara), and an inward- and upward-turning foot (clubfoot). Arthritis may develop early in life.