Strength In Numbers

In my post "Striped Socks - Day Five", I referred to our visit to the Genetic Clinic at Guy's Hospital.

The first thing the geneticist did was to a provide us with a description of 22q 11.2 DS and to ask a number of questions on the medical history of both our families. The standard procedure is to arrange for a blood test on both parents to see if either has the deletion and these tests came back negative which was not unusual as in more than 90% of cases the condition is described as "de novo" i.e. new rather than inherited.  However for a person with the deletion the chance of their children also having the deletion is 50/50.

We were advised that Sarah should see an immunologist and would need an ultrasound on her kidneys. In time we would need to see the cleft team.  We were also given some advice on a couple of websites where more information could be found. That was it, we were at the start of a journey and it felt like entering a dark tunnel not knowing where we were going or what would be happening further down the line.

For some a Journey into the unknown

However for some parents the impact of a diagnosis is the opposite. In such cases they may have seen their child suffer from frequent infections, struggle to meet milestones and have problems at school without knowing the reason why. In these cases following a diagnosis suddenly everything starts to fall into place.

For others everything suddenly becomes clear

In both cases information about the condition is key and whilst there are a number of good books on the subject, today the ubiquitous internet search is the key. This can be both a blessing and a curse with psychologists now warning of a new condition cyberchondria caused by self-diagnosing of ailments via the internet. 

With more than 180 anomalies to choose from the parent of a 22q child has plenty of opportunity to become a full time cybercondriac !

 

The amount of information available on line has increased significantly in recent years and it is not difficult to find a number of informative websites. As a parent I think it is important to learn as much as possible about 22q to spot any issues that may arise whilst at the same time trying to keep things in perspective and not dwell on aspects of the condition which may never arise.

When Sarah was first diagnosed we spent a lot of time looking for information but at the time the flow of information was pretty much one way with an organisation posting information on a website and the user accessing it.  Although bulletin boards provided some sharing of information they were often difficult to use and very restrictive. Furthermore a common feature was the number of articles or bulletin posts focusing only on the negative aspects of the condition.

The explosion of social media has been very positive and when coupled with increased research into the condition there is so much more information available.

Since founding The22Crew in 2011 http://www.22crew.org/home we have gone from strength to strength and now have a community of 488 members in our closed Facebook group.

I use the word community deliberately as there is a real spirit of support and sharing. Literally within minutes of a question being asked or a comment being made there are several replies offering guidance based on real experience which is often more valuable than basic factual information on the condition.  

There is also a great spirit of sharing and communication with other groups both on Facebook and Twitter and The 22Crew has links via social media with, among others 

22qIreland http://www.22q11ireland.org/, 

Dempster Family  Foundation(USA) http://www.dempsterfamilyfoundation.org/ 

22qFamilies BC (Canada) http://22qfamiliesbc.blogspot.co.uk/,

LA22q Support (USA), 

VCFS 22q Foundation (Australia)  http://www.vcfsfa.org.au/pages/home.php 

VCFS Educational Foundation (USA) http://www.vcfsef.org/, 

Sindrome Digeorge Espana (Spain)

as well as non 22q organisations such as
Unique (UK) http://www.rarechromo.co.uk/html/home.asp and
Patches Heart Group (UK) http://patchesheartgroup.webs.com/

The biggest change I have seen in the past 9 years and something which has been very important to The22Crew from the beginning is the desire to focus on the positive rather than the negative and to celebrate the hard won achievements of everyone who has this condition.