Click here to donate to The Friends of Sammy-Joe Foundation   Click here to visit Sammy-Joe’s Fundraising Shop at Cafepress. Sammy-Joe’s mother Maria writes about her experiences in her online journal. Click here to read the journal. Make A Donation Fundraising Shop © The Friends of Sammy-Joe Foundation 2011     Click here to read our newsletters. Appeal For Charlotte Newsletters Public Appeal For Charlotte Reid The Friends of Sammy-Joe Foundation is holding a public appeal to help raise money for Charlotte Reid who is suffering with TTD. She is due to go to America to the NIH, and we would like to raise some money for the cost of the trip. People can donate by sending a cheque, or directly through the Everyday Hero site or direct deposit into the account. Please email me once you have made a donation. Click here for further details and to donate.  Donations can also be made via the Sunny Reid Facebook page. Just let them know the money is for Charlotte, and it will go directly to her appeal. Contact Us 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. Email:  contact@friendsofsammyjoe.org Phone: 0407 558 151 Fax: 03 9305 7591 Visit Us On: Web Site by VP-IT Maria’s Online Journal