Rare Disease Day

Today is Rare Disease Day. It’s a cause that’s very close to our hearts.

Children who suffer from rare diseases can often slip through the gaps due to a lack of research, knowledge, awareness, funding and centralised support across the various illnesses. These diseases are extremely unfortunate:

• They might be too rare for a cure;
• They might be too rare for funding or respite;
• They might be too rare to have a name;
• They might be too rare to even be diagnosed;
• They might affect multiple siblings;
• They might inhibit treatment and care;
• They might leave no time for the parent to focus on themselves or their other children;
• They almost always require high-level care
• They almost always demand multiple specialists, appointments and high financial outlay

Most importantly, they all create emotional, physical, financial and practical stress on the child and their family.

For this reason, we get many case referrals for children and families coping with rare diseases. We have great respect and admiration for those organisations searching for cures. Our focus, though, is on the struggles of the here and now for those families living without answers, without a cure, or even without a diagnosis.

Complex needs and situations require very tailored – but often simple – practical and emotional support, which we are able to offer through our Rapid TLC Service.

We encourage you to share this post, share your story of living with a rare disease, or give support to those suffering from rare diseases: tlcforkids.org.au/donate

We would also like to take a moment to acknowledge the various rare diseases, conditions and syndromes we have encountered in our cases, in the hopes of raising some small awareness for their existence:

• 2Q37 Deletion Syndrome
• Aicardi Syndrome – a rare brain disorder
• Acute quadriparesis
• ADSL insufficiency
• Angelman Syndrome – A genetic disorder causing developmental disabilities and nerve-related symptoms
• Cancer – rare forms
• Central Alveolar Hypoventilation (CAH) – the lack of automatic control of breathing during sleep
• Chronic Granulomatous Disease – an inherited primary immunodeficiency disease (PIDD) which increases the body’s susceptibility to infections caused by certain bacteria and fungi
• Cockayne syndrome – rare and fatal autosomal recessive neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), eye disorders and premature aging
• Corniela De Lange Syndrome/Apnoeas
• Edward’s Syndrome – Trisomy 18 – A condition that causes severe developmental delays due to an extra chromosome 18
• Encephalomyelopathy – a rare neuro-metabolic disorder that affects the central nervous system
• Epidermolysis Bullosa – extremely fragile skin, prone to blistering and wounds
• FIRES – Febrile infection-related epilepsy syndrome (F.I.R.E.S.)
• Glycogen Storage Disease Type 3 – a metabolic condition
• Hunter’s syndrome – a complex metabolic condition that will cause them to have multiple disabilities and a shortened life span
• Infantile Neuroanoxal Dystrophy – a rare neurodegenerative disease
• Interstitial Lung Disease
• Intestinal Lymphangiectasia
• Kabuki Syndrome – multiple congenital anomalies and intellectual disabilities
• Kartagners syndrome
• Leigh Disease also known as Juvenile subacute necrotizing
• Lipin One Deficiency
• Nemaline Myopathy – a condition that is associated with a broad range of special medical needs, including weakness of the muscles.
• Ornithine Transcarbamylase Deficiency – a rare metabolic condition
• Pancreatic Agenesis
• Proteus Syndrome aka Wiedemann syndrome – a rare congenital disorder that causes skin overgrowth and atypical bone development, often accompanied by tumors over half the body
• Rohhad – Rapid Onset Obesity with Hypothalmic dysfunction, hyperventilation and autonomic dysregulation, obstructive sleep apnea.
• Scleroderma – connective tissue disorder
• Treacher Collins Syndrome – an inherited condition in which some bones and tissues in the face aren’t developed
• Tufting Enteropathy – an intestinal disorder requiring PEG eating
• Turcot Syndrome – formation of multiple benign growths (polyps) in the colon that occur in association with a primary brain tumour.