Editors introduction: This letter was sent to me February 2001 by the mother of a child with an extremely rare disorder. We are pleased to report that there is a happy ending, but the letter raises some very good issues for parents who find themselves in this situation.

Trish Dowling's Letter
I find myself of being the only mother of the only child in Australia with this particular condition. I don't even begin to know who would possibly listen to me or understand the heavy responsibility I feel towards my son.

I want to talk to other parents but don't know how to go about that. I am overwhelmed at the maze of organisations to which I've been referred. Is no-one responsible to us or for us?

I feel as if this huge boost which we got at Christmas and a diagnosis and treatment has now left me feeling so deflated and depressed because I was left to deal with it all on my own.

[ Ed. note: Kevin was diagnosed just before Christmas following a long history of problems,Trish had been told by one Paediatrician to stop bothering the hospital as she was emotional, over-reacting and there was nothing wrong with her son. He fell into coma shortly after that and finally the hospital admitted they had no idea what was wrong with Kevin and referred him to Dr McGill, who correctly diagnosed his condition.]

Kevin is four years old. There are only 12 cases world wide with his disorder and we now give him creatine three times daily. There is no information on side effects and the data that is available is so highly technical as to be unreadable by the average person. I was told I just had to handle Kevin and be seen in a month's time (our first follow up appointment and MRI scan). Obviously over the Christmas/New Year period and there is no child care, no therapy, no SEDU, no respite and no help. In fact, I couldn't take Kevin away to see his grandparents as I was also told no doctor would be able to help me or tell me anything.

Issues for us has been accessing information about what developmental input does Kevin require? I feel it needs to be more intense to ensure optimum development. Financial - Kevin needs extra specialist input and so do I. Meanwhile I am unable to work so we have insufficient income to pay our bills, fix our car, set up an office to have a computer and fax so I can communicate effectively with Dr Bowling who is now overseas.

[ Ed. note: Frank Bowling took up a position in Canada after the Mater Hospital shut down it's metabolic unit. He is now back (phew!). The MDDA helped in lobbying the Hospital Board and the State Government for his return.]

So I can tap into organisations in the community and get help. I need to talk to other parents and I don't know how to go about it.

I need counselling and specialist input concerning fostering Kevin's development and equipment needed. I feel he needs speech therapy and occupational therapy daily. We can't afford that. There is not one doctor in Australia who knows anything at all about this condition.Can you imagine how alone that makes me feel?

I am forever grateful to Dr Bowling and Dr McGill and Dr Wallace in diagnosing Kevin. I am not criticising them. Is there support available for parents of children with these rare conditions?

[ Ed. note: The MDDA was just starting to branch out into Queensland when Trish wrote this letter. ]

I feel I need a guide or mentor through this process as Kevin is now four and all that lost time pre-diagnosis has to be made up for his sake. It shouldn't be left up to me solely to ensure it happens.

Ed note: FEEL LIKE A HAPPY ENDING - WE HAVE ONE!

In May 2002 I contacted Trish to see how everything was going. Kevin is receiving Speech Therapy, and has just had his dose of creatine altered. Instead of three times each day he is having it six times each day. Trish suggested this to Dr McGill believing that Kevin's problems with lethargy and his inability to last a full day at school was because the creatine may be peaking and falling after each dose. She was proven right! Kevin just had his first full week at school without needing to come home for a sleep. Trish is over the moon and couldn't be happier with how he is progressing. Well done Trish. You made it through the hard times and we're proud of you all!