STEPHEN'S FOOTSTEPS ... THE BEGINNING
Introducing Stephen (Stevie as I use - others Steve and Stephen) urged us completely to do something positive for our syndrome, country and internationally. Providing his life's story has already received a lot of interest and in communication areas. Because the site is informal it became CdLS our priority. In doing so, people in his life have appreciated it(above information covering 6 pages I typed on his 16th Birthday), plus bringing back for others and those interested who visit.
*Link exchanges was generously offered for promotion by the Australian support group informing families of it's existance, inviting families to join links together. It was stressed to be a seperate entity by the group, a first in our country for a family to initiate this kind of support system on the web for the life of computers in family homes. Not to be confused as a web-ring wrongly re-worded for publication as well. There is no distinction here, any family is welcome to
join us, whether a financial member or not. We are as one as far as CdLS is concerned sharing what we have experienced in life, strengthening mutual and awareness support so our children can better understood, but firstly, letting the Australian public learn about a little known condition.
The group was thanked very much for their idea to publish a vision for families, previously believing a few had websites and would join. It is unfortunate we cannot refer contacts to the group, because it was stated this support has nothing to do with their group. Very sad! But at the same time it gained much interest being stalked even before we were listed, stalking ever since! So, the reason there is no link to their website, we were left alone simply because it was stated our website was not suitable enough. Why isn't it? Everyone enjoys it very much, if it were not true this couldn't be said. It's up to families like ourselves to help improvements particularly when connected, for stronger information and providing more awareness in our country like world countries need..
* Stephen's diagnosis is as clear as if it happened yeaterday. Leading up to it there were a lot of examinations, various tests, x-rays (hands too) and photo shots occured. On the day Stephen (18 months) active around the room, it went like this... 'We have done all the tests possible with no proof they are negative, we know of other children with Cornelia de Lange Syndrome, Stephen resembles the condition, producing a large head shot photo, again he was examined sitting up on the bed, there were two there". (because it is one of the leading world's teaching hospitals). It was a short visit, point blank, leaving as ignorant as we arrived, feeling questions should not be asked.
That was our diagnosis. Never understanding what it all meant, learned years later by meeting other families and literature, the facial features are one of the diagnostic factors and strongest.
We had the opportunity years later when asked to bring Stephen into the diagnosis area. Again there two different geneticists (not the leading Professor this time) wanting to check him over. It gave me the chance to ask "Why wasn't the syndrome explained to us to help understand"? reply
"4 words" which I won't express here, nothing to do with Stephen or ourselves. He was checked for growth assured it would occur and he did grow but is still small at 4'-6" we have seen taller. His hand x-ray was done plus body photographs, the geneticist saying it will probably be difficult to get a mouth shot.... bet my bottom dollar it was done under anaesthesia at dental another time :) His
testings we couldn't have wished for better support and Stephen's support for them.
The same geneticist gave a speech at a different support group's function we attended, his eyes were on Stephen a lot of the time, sitting between us well behaved very observant, making a large sound me telling him to be quiet just the one time. This particular geneticist was very pleased to hear there was a support group being set up and leading to a Foundation. Very sad to learn later there were too many interferences for it to continue.
It's great to share with other families it's hoped more aussie families will join in the near future to
share as much as you wish a little or a lot. This support system on the web gives you -the family-
the opportunity to help SPREAD THE WORD with us for Australia. It is entirely a personal decision, the more families who join together the better our children are understood going from STRENGTH TO STRENGTH for family CdLS information. It only makes sense doesn't it? We certainly want people to learn and hear on the personal level and individuality for Australian communities.