Living with a rare disease
There are between 6,000 to 8,000 rare diseases that have been identified worldwide and more disorders are being diagnosed or documented in medical literature on a weekly basis.
Current conservative estimates indicate that at least 6-8% of all Australians are affected by a rare disease. Diagnosis is often a long, difficult journey due the small number of cases of certain conditions and their complicated presentation of symptoms.
Families living with rare conditions are massively important to us here at Source Kids and we have had the privilege of meeting some truly awesome individuals over the past few years.
To mark Rare Disesase Day 2020, here are just a few of the stories we’ve told or personal blogs we’ve featured (click each headline to read the full article):
Rare Voices Australia – working to make it fair for rare
A profile of the national organisation fighting for the rights of Australians living with a rare disease.
Living with a rare disease: Rahman Syndrome
Xavier Kitchin from Scottsdale in Tasmania is understood to be only the seventh person in the world, and first in Australia to be diagnosed with HIST1H1E/ Rahman syndrome.
From a mother to her son: to our beautiful rare child
A touching letter from a mother to her son that beautifully captures the reality and love that is parenting a child with a rare diagnosis
The Source Kids family profile: meet the Flannery family
Louise tells us about her daughter, Charli who has a rare genetic neurodegenerative condition known as ‘Pontocerebellar Hypoplasia Type 1b’ (PCH1b) – a severe recessive neurological disorder meaning Charli experiences involuntary movements, hypotonia (no head or trunk control), muscle weakness, nystagmus, congenital hip dislocation, respiratory insufficiency, aspiration, neurological seizures (lasting up to 3 hours), hyperreflexia.
Jack’s Butterflies – creating memories, celebrating moments
Jack’s Butterflies is a charity that was brought to life by one family’s journey with rare disease. Rachel and Paul Gates are the parents of six beautiful children, one of whom has Ohtahara Syndrome; a neurological disorder which is characterised by epileptic seizures. There are only a handful of children currently diagnosed with this condition in Australia. 80% will pass away before their 2nd birthday. Those who live beyond 2 will be severely disabled with little to no development and have many health complications.
The Source Kids Family Profile: meet the Lindsay family
Vanessa tells us about life with Olive and Gus who have both been diagnosed with Fragile X syndrome.
Living without a diagnosis: Syndromes without a Name
We chat to Heather Renton, whose daughter Rebecca had an undiagnosed genetic condition and frustrated by a lack of support, she established Syndromes Without A Name (SWAN) Australia in late 2012.
Source Kids Family Profile: Meet the Tucker family
Ivy Tucker is one of only 150 children worldwide known to have a SCN8a gene mutation which causes her to have ongoing seizures, cortical visual impairment, a movement disorder, global developmental delay and more.
February 29th is International Rare Disease Day. Find out what you can do to help support families affected by rare diseases – www.rarevoices.org.au
