Sláinte

Going back to early 2006 we had recently discovered that Sarah had the deletion and through our doctor at the local hospital and the geneticist at Guy's we were starting to get lots of hospital appointments so that Sarah could get checked out for the main anomalies found in 22q.

We were very fortunate to have an excellent health visitor who put us in touch with our local branch of The National Portage Association http://www.portage.org.uk/ who arranged for regular home visits to monitor Sarah's development and provided practical advice on how to help Sarah progress towards the usual milestones.

When Sarah was a bit older she was offered a place in Portage's Early Learning Class for two hours a week which not only helped Sarah learn to mix with other adults and children but also provided an element of respite care for Colleen in that it allowed her to have a couple hours of free time each week.

Despite the support mentioned above, as far as 22q was concerned we were still very much alone. Whilst as we have discovered the incidence of the condition is around 1 in 2,000 it is still relatively rare and the various labels attached to the condition do not help its chances of being recognised. Our local Portage group thought they might have once seen another child with 22q at some time in the past but could not be sure.

Our geneticist had suggested a number of websites for us to look at but also warned us that in a lot of the content could be very negative with lots of focus on the most severely affected children who in many cases had sadly not survived.

Much of our time was spent just being "normal parents" and we tried not to dwell on the condition but from time to time our curiosity led us back to the World Wide Web. Towards the end of 2007 we found out that Max Appeal http://www.maxappeal.org.uk/ was holding a family conference at Bristol Zoo. A creche was to be provided and we decided to go along for the weekend.

With a little bit of apprehension we set off for Bristol. We were keen to see older children with the condition and meet other parents but at the same time we were concerned about what we would discover, especially would we see children who were severely mentally or physically disabled. I now see these thoughts as totally irrational but at the time it was a major concern.

Now I have a pretty good sense of direction and can usually find my way around, getting to Bristol was no problem but finding the hotel and negotiating the city centre one way system was a bit of a nightmare and I lost count of the number of times I saw the Clifton Suspension Bridge.

Eventually we found our way to the hotel and had a good night's sleep before the conference which was due to start early the next morning.

In the conference itself we listened to presentations from various medical professionals about key aspects of the condition and we enjoyed the opportunity to speak with other parents and to see the other children who despite our initial fears were having fun and doing the normal stuff that all children do.

As a result we came away from the conference with a better awareness of the condition and a positive feeling.  Between 2007 and 2010 we attended a couple of other conferences arranged or hosted by Max Appeal including the 7th Biennial International 22q11.2 Syndrome Meeting held in Coventry.


Last year Colleen, Sarah and I, together with fellow trustees of The22Crew (Lindsey Stedman and Bridget James) attended the 20th International Scientific Meeting of the VCFSEF (http://www.vcfsef.org/ hosted by our good friends at http://www.22q11ireland.org/.  

It was very noticeable that the content of this type of conference had moved on since we first started attending them. There was much less focus on the physical aspects of the condition such heart defect or palate problems and more focus on the cognitive aspects of the condition, psychiatry, and brain development. There were also presentations on the latest studies being undertaken on individual genes and their impact on brain development. 

Unfortunately not every parent is able to go to this type of conference but through social media we tried to give people an insight into what was going on by posting regularly on The 22Crew's twitter feed @The22Crew and through our Facebook page.  Following the conference The22Crew posted summaries of the various presentations and links to the slides used by the presenters on our website http://www.22crew.org/conference-reports/the-20th-international-scientific-meeting-of-the-vcfsef-dublin-ireland-july-2013 

The conference was a great weekend and the best conference I have attended. Not only were the presentations useful and informative but we had fantastic hosts in Anne Lawlor and her team from 22q11Ireland including Anne's daughter Áine who has 22q. Áine is a very talented young lady who entertained us with Irish dancing, playing the violin and also made a very moving speech about the hard work Anne has done in setting up the Irish support group and support she has provided.

Two other people who it was a pleasure to meet and who deserve a mention are Tessa Koller http://www.tessakoller.com/ who is a young fashion designer with 22q who showed off her designs at a fashion show and Rick Guidotti a fashion photographer who though his organisation Positive Exposure http://positiveexposure.org/ has a mission to "utilizes photography and video to transform public perceptions of people living with genetic, physical and behavioral differences – from albinism to autism."

Conferences have certainly moved on since the first one we attended and through social media we expect to see greater use of webinars and virtual conferences in the future examples of which can be found on the website of the Dempster Family Foundation.

http://www.dempsterfamilyfoundation.org/videos/44