|Name||Stacey Meree Menzies|
|Diagnosis||46,XX,dir dup (10)(q24.3-26.3) de novo|
|Parents||Rob and Sharron Menzies|
Three days after she was born the paediatrician told us they were going to run some chromosome tests as they felt because of her small size and unusual features that there may be a problem. The next ten days were a nightmare, but nothing on what was to come. When the results came to hand we were told that Stacey did indeed have an extra piece on chromosome 10. This meant that if she survived the first year of life then she would be unable to do anything, let alone communicate. Christmas Eve they gave us our baby and sent us home without any contacts, hope or anything. We were, to say the least, blown away. We decided we definitely needed family support so sold up and shifted further down the country so as to be with them.
This is where we landed on our feet. Our new doctor put us in touch with a paediatrician who then ran his own tests and decided that Stacey was going to be a "we’ll see" case. By this stage she was far too alert to be too severely affected.
Stacey’s diagnosis is: 46,XX,dir dup (10) (q24.3-q26.3) de novo.
She has two kidneys fused together on one side but this has not caused any problems to date. Her left eyelid had no muscle tone in it when she was born and this was corrected when she was 18 months old. She wears strong reading glasses. She has very small ear canals and it would appear that she may have very minor hearing loss in the top range. She has (in the words of the geneticist) and unusual shaped head and face. Very small eyes, a pointed nose and a very narrow jaw. She has a very high palate (almost cleft). Her tongue has no protective coating on it so she can’t eat spicey or hot foods. She has anaphylactic reactions to some foods and minor allergies to animals, dust, grasses etc.
Stacey is developmentally delayed (but there have been times when I would dispute this). Her speech has always been a struggle but at present she has a good vocabulary and it is reasonably clear although those that don’t know her find it difficult to understand at times. Her gross motor movements have been slow but she can run, jump, kick and throw a ball etc. Her fine motor movements are not too bad either now.
She has been in a satellite unit since she started school at five. This is a class especially for children with special needs which is within a ‘normal’ school. Stacey spends most of her learning time in this class and goes into another class for physical education, music, art etc so gets to spend some time learning with other children her age. She will be off to college either 1999 or 2000.
At nearly 14 years of age, she is still very small but more importantly, continues to progress in all areas at her own pace.
Stacey is very gentle (except with her sister - the usual sibling rivalry), loving and caring. Like others, she charms everyone she comes into contact with, especially males. She has one sister who is 12 years old and does not have 10q.Stacey makes us laugh louder and cry harder than anything else in this world.
She has recently had the braces on her teeth removed and is now undergoing quite a lot of dentist work to repair the cavities that developed while they were on. It was certainly well worth the exercise though as her teeth were coming out at all angles and now they are quite lovely.
Stacey's teen years have been reasonably uneventful health wise which we are thankful for. She still suffers from allergies but I don't think they are quite as bad as they were and she seems to be over the bouts of bronchial asthma she got when she was younger.
She continues to learn quite well, hasn't levelled off in any way, and her teachers are keen to keep her at school until her 21st birthday which is when she will legally have to leave. She loves responsibility and the more we give her, the more she's willing to take on but obviously we do this in small steps.
We've had no great dramas except for the usual teenage girl moodiness from time to time when Stacey and I clash a bit but all in all she continues to amaze us with her development both physically and mentally so we feel very lucky.