Annie

Annie's Story

The UK Group Picnic, August 2000

Beth's younger daughter, Annalisa (Annie for short) was born in 1971 suffering from a rare genetic disorder, Trisomy 22. Normally we have 23 pairs of chromosomes. Annie has an extra chromosome no. 22 as well as a translocation of a segment of the chromosome (11q:22q translocation). The abnormality appears to be passed from one generation to the next by perfectly healthy 'carriers', who have the translocation of material between the two chromosomes, but do not have the extra chromosome.
[Picture of Annie, about 5]

Once Annie's condition had been diagnosed, most, if not all, of my living relatives were tested, and about half of those tested proved to be carriers. Carriers could be male or female. Children of non-carriers, who will not be carriers themselves, are not included in the numbers tested.

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.

Annie was born with a cleft palate and breathing difficulties, and development was very slow, so it was clear from an early stage that life was going to be different for all of us. Her cleft palate was corrected surgically, but she can still only take liquidised food. She has a normal diet of fresh home cooked food, just with added milk or liquid so that she can drink it from a cup. This picture was taken when she was 12.

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.

Annalisa is now 39 years old (2010). As a child, she went to a local school for children with special needs. She left there at the age of 19 and was then able to attend a nearby day centre, which has a special needs unit. There she enjoys a wide range of activities such as physiotherapy, aromatherapy, hydrotherapy, a sensory room, interaction with other clients and the staff, lots of music and outings to various places. She also gets a lot of stimulation from the dedicated team of carers at her home. As the shifts change there is always someone fresh to interact with. There she has a very social life. Handicapped friends from other homes come to visit and she has been on several holidays with the staff to holiday camps or hotels. She also goes on daytrips to theme parks, ice shows or out for a meal in the evening, the restaurants are happy to liquidise her food.
Although she cannot communicate verbally she has plenty of body language. She smiles a lot and has her own unique personality.

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.

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Page last updated 20 January 2011