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Entertainment Memberships include over $20,000 worth of valuable 2-for-1 & up to 50% off offers from many of the best restaurants, arts, attractions, hotel accommodation, travel & much more! Books can be purchased directly from Maria or ordered online. Alternatively, there is an app available. The books are $70 each.
A page has been set up on GoFundMe to help Sammy-Joe with his medical needs - the costs are so high and the family is struggling. Please help by donating. We need to provide funds for over the counter medications and expensive prescription drugs that are not covered by the PBS. Please click here to donate.
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Sammy-Joe with mum Maria
What is Trichothiodystrophy? Trichothiodystrophy (TTD) is a rare genetic disorder that involves the production of abnormal brittle hair, icthyosis, and physical and developmental disorders. It can also involve ataxia, stunted growth, and skin sensitivity to light and UV rays. TTD is a seriously disabling disorder with a severe skin affliction and serious developmental defects and growth retardation. It can also cause immune deficit cells, premature aging in facial features, cataracts and dental abnormalities, poor weight gain, autistic characteristics such as irritation to high frequency sounds, and repetitive movements and behaviours. It is one of a group of diseases - the others being xeroderma pigmenentusm and cockayne syndrome. It is a rare and recessive disorder, and patients can be characterised by symptoms of sulphur deficient hair, and in about 80% of cases, photosensitivity. There have been no reports of association with skin cancers, but patients have been known to have short life expectancy. Diagnosis is made by studying the hair mounts, and by amino acid analysis which demonstrates decreased high sulphur matrix proteins. The hair is so brittle that once it emerges from the skin and becomes exposed to the environment, the hair breaks and fractures, and so the result is brittle, short and sparse hair. This is why most of the children with TTD have sparse eyebrows and eyelashes. There is currently no treatment for TTD. How TTD can affect your child TTD is a life-limiting condition. There is no specific life expectancy, as it will depend on the severity of your child’s condition. TTD has some physical characteristics which are often similar across many affected patients. Height – this will depend on the severity of their condition. Brittle hair and nails – these will flake and break easily. Ichthyosis (thick, dry skin) – your child will shed skin at a faster rate than usual and will need a regular moisturising routine. Your child may have congenital (from birth) cataracts – these are often surgically removed. Your child’s hearing and sight may be affected. This can often be managed with glasses and hearing aids. People with TTD are more at risk from tooth decay, so particular care needs to be taken with oral hygiene and making sure that a healthy diet is followed. A reduced immune system is also a common problem for patients with TTD. This means that patients are more likely to get infections, so extra care needs to be taken, especially during the winter months when there is an increased risk of chest infections. Your child may have problems with eating and drinking. These can be managed in several different ways ranging from thickening oral fluids, to a gastrostomy (a feeding tube into the stomach). The options will depend on the advice of the doctors. Photosensitivity (sensitivity to the sun) and photophobia (sensitivity to light) can be an issue for patients with TTD. High factor (50+) sunscreen should be used if they are going out but, where possible, you should try to keep your child in the shade. Make sure that sunshades are used on car windows, where appropriate. In severe cases, special film will need to be placed on the windows at home and in the car to make sure that no UV is present. Sunglasses will be necessary, maybe even indoors, if your child suffers with photophobia. TTD will have an impact on your child’s developmental abilities. You may have noticed that they are not reaching their milestones at the same rate as other children. This will become more apparent as they get older. As with many other illnesses, there is a spectrum (range). Patients with TTD will all have very similar attributes, but the severity of the condition will vary depending on how the genes are affected.
PLEASE HELP!! A ‘Friends Of Sammy-Joe’ donation charity tin was recently stolen from a pharmacy in Craigieburn. Please help us to find the thief. Click here to visit 9 News to read more Click here to read more also Click here to read Hume Leader’s article on the community stepping up to help
Click here to read a post by Maria Vamvakinou MP about Sammy-Joe & Trichothiodystrophy (TTD)
Now Available: Turi Trust Charity Documentary - click here to watch (YouTube)
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