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The Friends of Sammy-Joe
Foundation
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Sammy-Joe’s mother Maria writes
about her experiences in her
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Click here to read the journal.
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© The Friends of Sammy-Joe Foundation 2011
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 travelling to
America to visit the NIH, and we
are raising money towards
her trip. Click here to read more
about Charlotte’s trip.
People can donate by direct deposit,
sending a cheque, or directly
through the Everyday Hero site.
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.
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