Only one possible sufferer was identified, a boy born to a first cousin of mine, who was malformed and died at 4 days old. This happened 11 years before Annie was born and no genetic testing was done at that time, so one cannot be sure. A number of carriers also suffered miscarriages, which may or may not have been indicative of malformations. Nowadays most carriers who are expecting a child can avail themselves of a test that will confirm the status of the foetus with respect to this condition.
This photo was taken when she was about 5 years old and it appeared in a scientific
paper [Fraccaro, M., Lindsten, J., Ford, C.E., Iselius, L, et al. The
11q;22q Translocation: A European Collaborative Analysis of 43 Cases. Human
Genetics 56, 21-51 (1980)]. This paper, written in scientific language, appears
to suggest that although carriers (and sufferers) can be both male and female,
the vast majority of sufferers had a mother who was the carrier rather than
the father. This suggests that transmissions via the father are either
less likely, or are more likely to be spontaneously aborted. More recent research,
however, appears to suggest that the probability of the condition being received
from the father is only slightly less than that of receiving it from the mother.
Click here for more information.
She had tendon transplants on both her feet to bring them into a better position but she is still unable to walk. She is using a wheelchair but someone has to push her around. She is able to sit up unaided and enjoys sitting in a rocking chair.
She cannot talk, but can be very vocal, especially if something is bothering
her. She has to be fed and dressed and is doubly incontinent, so needs 24 hour
care. She lived at home until she was 23, but then we were able to get a place
for her in a modern residential home, near where we live, where she shares a
home with five other ladies with similar degrees of dependency.
Please e-mail me if you are interested in hearing more or would like to tell me about your experience -
There is a very helpful Trisomy 22 Site that you may want to look at if you haven't seen it already. The UK members of the support group that helps families met at a picnic in Maidenhead in August 2000. Click here for pictures from the event.
[ Back to the top of this page ] [ Back to Pete & Beth's Home Page ]
Page last updated 20 January 2011