Trichothiodystrophy (TTD) is a rare genetic disorder that involves the production of abnormal brittle hair, Icthyosis, physical and developmental disorders. It can also involve ataxia, stunted growth, skin sensitivity to light, and to 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 characteristic 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 (but nobody really knows).

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.

My son Sammy-Joe has TTD and has only recently been diagnosed. He is now 13 years old. He was born by emergency caesarean section at 38 weeks. He was smaller than expected for a child at that age, and his head was 26% smaller compared to the norm. He was born with curly, brittle hair, short and sparse, small eyes, dry skin and very floppy. He weighed 5lb 2oz and lost a dramatic amount of weight in the first two days of his life.

He lost all of his hair after having a temperature, while having a bath in the hospital. He had difficulties suckling, and failure to thrive. Because of his poor immunity, he has had many stays in hospital throughout his life undergoing extensive tests, Gammaglobulin treatment, surgery and rehydration. He has lactose intolerance, ataxia, speech delay, autistic characteristics, poor weight gain and stunted growth. Certain sounds and lights affect him, triggering him to scream as if in pain, which I now believe at times truly hurts him.

He is photosensitive to the light and refuses to wear short sleeves due to the sun hurting his skin. For years I couldn't understand why he wanted to wear long sleeves on a 40 degree celcius heat day. Now I know why.....he cannot be exposed to too much sunlight, he is quite fragile and sometimes unsteady on his feet, and often faints when he is unwell. Aside from all the trials and battles in his life, he is a happy child that has a passion for books, videos, nursery rhymes, The Muppets, animals, stuffed toys and James Hird from the Bombers.

My sister in-law once said, "imagine if everyone had the same passion for things, or loved the same way Sammy-Joe does, this world would be a better place".

I have often been asked what does the future hold for my son's life, and I would be lying if I said it doesn't scare me. In fact it scares me so much my response is always "nobody really knows". The other children with TTD that I am in contact with are all younger than him, and because this disorder is so rare, I have only been able to find 6 other families in Australia, 7 world-wide.

Sammy-Joe is my pride and joy, my heart and soul, and my whole reason for living. He is truly a miracle child and a survivor, an inspiration to his family and friends. His brother Christian adores him, and he is the apple of his Dad's eye. We love both our children and have taught them to be very proud and stand tall, despite all the challenges that life brings us.

Sammy-Joe constantly amazes me with his incredible happiness and his shear love of life. Like all parents, we want everything for our son, and thinking ahead about what the future may, or may not hold, makes me strengthen my determination to see that my child has every opportunity and experience he deserves.

Sammy-Joe's diagnosis has forced us to re-evaluate our entire lives and the way we live. We surround ourselves with family and friends who understand and are sensitive to our situation. We decided as a family that whilst this diagnosis is devastating and we have no control over it and the final outcome, we do have control over the way we manage our situation and the way we choose to give Sammy-Joe a quality of life that best suits him. The simple things in life really do mean much more, and spending quality time with Sammy-Joe means so much more to all of us. We all live day by day and enjoy every moment with our precious little boy.

I'd like to tell you all that as long as we are blessed with Sammy-Joe, we will have all that we need. Everything else seems so unimportant. He will always touch hearts, and even change lives with his smile.

I would like to find other families around the world that have children with TTD, and also if there are any adults with the disorder. We have now joined together and formed a support network (under the umbrella of 'The Genetic Support Network of Victoria'), please contact me to join. Or, if you are able to donate money to our cause, "Sammy-Joe Trust Fund" (so that when therapy becomes available, the families can all travel and one day meet up), please contact me also. Please e-mail me at: mliistro65@hotmail.com, or Sammy-Joe at: sammyjo2@bigpond.com

This article comes from - www.vp-it.com.au/sammyjoe. Click here to learn more.