Living with a Rare Chromosome Disorder: Support from Other Parents

Team GB (Genetic Blip) members in Hampshire

I feel very lucky to have met some lovely people through Unique, the rare chromosome disorder support group. We meet at each other's houses about once a month. Monday's meetup at Laura's was the first time Chrissy had joined us, and it was a resounding success!

We're quite a diverse bunch. Our ages range from 27 to 52 and our affected children's from 3 to 28. We have a gran who comes along when she can & of course my child is now an adult. Although I used to attend a support group for parents of children with learning disabilities when Chrissy was little, it is a great comfort now to feel a common bond with other parents who know what it's like to have a child with a rare and complex medical condition.

We now have four different rare chromosome disorders among the children in our group.

Chrissy and Faith, aged 6 1/2, have a 1q21.1 microdeletion - http://www.rarechromo.org/information/Chromosome%20%201/1q21.1%20Microdeletions%20FTNP.pdf Last October Unique reported only 64 confirmed cases - so quite remarkable that Faith's mum Jo and her family only live about 20 miles from us.

Sue's 4 1/2-year old daughter, Celyn, has a 6q 26 -6q27 deletion http://www.rarechromo.org/information/Chromosome%20%206/6q%20deletions%20from%206q26%20and%206q27%20FTNW.pdf

Laura's daughter, Katey, aged 3 1/2, has a 15q11.2 microdeletion http://www.rarechromo.org/information/Chromosome%2015/15q11%202%20microdeletions%20FTNW.pdf

Mandy's 4-year old son, Harry, has XXYY Syndrome http://xxyysyndrome.org/english.php

Despite the different chromosomes that are affected, our children share striking similarities, such as feeding difficulties as babies, low muscle tone, developmental delays and behavioural problems, but there may also be wide variations between people with the same chromosomal make-up. For example Faith doesn't have learning disabilities like Chrissy but she shares some of the behavioural traits and health problems, such as repeated ear infections. So although our daughters share some of the traits that tend to occur more frequently in people with 1q21.1 microdeletion, they are also shaped by their own unique mixture of genes and environment. No one knows why certain chromosomal rearrangements cause medical problems in some people but leave other people healthy. Even the features of Down's Syndrome, the most common genetic cause of learning disabilities, vary widely. Current research proposes that there is no syndromic pattern present in 1q21.1 microdeletion but parents I've met online report many common characteristics that aren't documented in medical literature.

It's only over the past 20 years that major advances in technology have demonstrated the importance of genetics, particularly where there is an extra piece of DNA (duplication) or if a bit is missing (deletion). Some chromosome disorders are incompatible with life and will cause the death of the embryo before birth, others can result in effects, such as learning disabilities or short stature that only become obvious as the child develops. Chrissy's deletion is de novo (brand-new); nothing was found in mine or her dad's DNA sample so our children are unlikely to have a child like Chrissy. Some children inherit the chromosome anomaly from a parent who's a 'silent carrier.' The parent may only discover that they have a chromosome anomaly when they undergo genetic tests to try to determine a cause for unexplained health or developmental problems in their child.

Although the completion of the Human Genome Project was celebrated in April 2003, the exact number of genes encoded in the genome and their function is still a work in progress. Our children's genetic blips place them in the forefront of groundbreaking research into solving one of life's greatest mysteries - what makes us human?



I support Unique http://www.rarechromo.co.uk/html/home.asp and I am a SWAN UK (Syndromes without a Name) blogger