Chromosome 18 Europe Update
Spring 2017
Hello everyone! I hope this finds you and all of your family happy and healthy, and looking forward to time off work, schools and therapies, even if for only a short time. Looking out of my window as I type this, it’s grey and cold in central Scotland: where you are must be brighter and warmer!
I’ve had several enquiries about our next conference. It’s top of the committee agenda, promise.
The past 4 conferences have been held at the end of July into August, and have been lovely, but expensive for those who have to fly to get there. Next year is set to be back in the UK, and the committee are looking at Edinburgh: lots of direct flights from many parts of Europe mean that children (and parents!) should be less stressed by the time they get there. And Edinburgh is a fantastic city to visit with lots to see and do for families.
Jeni and I visited the Edinburgh Marriott Hotel close to the airport, and it could be ideal for us. There is an airport shuttle bus which stops across the road, and the tram from the airport is a short walk from the hotel. Driving is only 10 minutes from the airport.
The Gyle shopping centre is right behind it with a massive supermarket for all the essentials families need, and it’s a short walk to get to the new tram which can take you right into the heart of the city. It has the all important swimming pool (indoors of course in Scotland!) and guest rooms are nice. Plenty of meeting rooms for creche and even better, a large outdoor green space.
But, hotel accommodation during summer is expensive in Edinburgh! Room rates then are approximately £169 per night. April or October would be less expensive and under £100 per night, which is much closer to what we have negotiated in the past.
So, at the last committee meeting it was decided to open up the quest for the ideal conference location to all UK and Irish families on the basis of finding the perfect weekend during the summer next year. We now have venues to consider in Aberdeen, Bristol, Bournemouth, Dublin and Glasgow – watch this space!
The last conference with an extra day was great, and we’d like to do 3 days again, starting Friday morning with informal sessions and fun activities so that Kids and their Sibs can get to know each other, the serious research presentations, communication, music therapy, etc on Saturday, and panels on Sunday, closing Sunday afternoon.
Our conferences cost a great deal of money! Families and friends work tirelessly to raise the money we need to run our big, bi-annual family conference, and we are profoundly grateful for every penny raised by every one of you. No other support group that I know of hires translation services which costs us more than €10,000, and we wouldn’t do without it.
Feedback forms after the Rome conference have informed our planning for the next one – thank you to everyone who completed one and turned it in.
In June, Agemo 18 Onlus Italian families are getting together in Milan, Italy and families affected by Tetrasomy 18 will be spending the day together in Wallington, England.
Hope you all have WONDERFUL weather, and lots of fun! Watch out for their photos and posts on Facebook: I know I will ?
For more information on these events contact
Sarah Russotti in Italy
Donna McDermott in England
And I know some of our European families will be travelling to the annual conference in US: Safe travels!
Three Cheers for amazing achievements!!!!
I love to read posts on our closed Facebook pages sharing the things people affected by Chromosome 18 disorders and their families get up to. Below are some recent posts I’ve had permission to share…
You’ll find encouragement, information and a worldwide network of cheerleaders on our closed Facebook groups. There are discussions going on there every day about challenges our kids and self advocates face, whether health, social or therapeutic. We often share posts from people and organisations which may be of interest to you eg. The Caldwell Autism Institute, Action for Sick Children, Mindroom, Sue Larkey, etc.
Have you checked out the website recently?
Steve and Richard have been busy. You’ll find information about the Chromosome 18 Research Centre there
Below are two recent posts from the Chromosome 18 Registry. You too should have received these posts direct from the US. For more interesting posts written by Courtney Sebold, the genetic counsellor attached to the Research Center at San Antonio, go to
Mood Disorders & Medication
Mood disorders, such as anxiety and depression, are quite common in people with chromosome 18 conditions, particularly as they enter the teenage years. Many families have struggled to find the right medication and dosage to treat these concerns. We at the Chromosome 18 Clinical Research Center are frequently asked, "Do any meds seem to work better for children with C18 conditions?" Of course, this is a very reasonable question to ask. After all, if two people's anxiety is related to the same underlying genetic condition, shouldn't they both react similarly to specific medications?
Unfortunately, at this time, there is no silver bullet when it comes to treating these conditions. This is for a few different reasons. First, conditions such as anxiety and depression are multifactorial. That means that they are caused by a combination of both genetic and environmental factors. A deletion or duplication on chromosome 18 is just one of those factors. We know that there are other genes on other chromosomes that may also contribute to a person's psychiatric well-being. In addition, environment also plays a large role. This means that events at home or school may also contribute to someone's depression or anxiety. Therefore, different people with a chromosome 18 condition might have different factors contributing to their depression or anxiety.
In addition, non-chromosome 18 genes influence how a person reacts to medication. Genes help determine how a person metabolizes drugs. Some people metabolize certain drugs differently than others. This may cause some drugs to be less effective for some patients. Different genes may also make some patients more prone to various side effects.
Lastly, other risk factors may guide medication decisions. For example, if a person has elevated risk for a medical condition, such as bone loss or dystonia, a physician may weigh potential side effects differently when choosing a medication.
The complex interactions of genes, environment, and medication are not well-understood right now. Therefore, determining the correct type and dosage of medication is both a science and an art. Once it has been decided to start a new medication, there is often a trial and error period while the physician and family work together to find the right answer for the family.
Of course, we will continue to collect data on the medications used by our study families. Meanwhile, other researchers research gene-drug interactions. This is yet another example of how other types of genetic research will someday provide information for our families.
Chromosome 18 Clinical Management Guides
Recently, the Chromosome 18 Clinical Research Center released management guidelines for many of the chromosome 18 conditions, including proximal and distal 18q-, 18p-, tetrasomy 18p, and ring 18. These guidelines are intended to be used by physicians and represent the culmination of several decades of research and our current understanding of these conditions. These guidelines are unique in that they are designed to give information specific to an individual's deletion. To develop the guidelines, we reviewed the literature as well as our own database to determine which concerns are most likely to present as well as the most appropriate method to screen for that issue.
For each condition, we've developed several documents. The first is a basic overview of the condition that can easily be reviewed in under a minute. This is intended for the consulting physician who just wants a global overview of the condition. The second is a more in-depth discussion, divided into different sections based on the stage of life. It includes suggested evaluations and referrals at birth or at diagnosis as well as routine screenings as the individual gets older. Each part includes the main concerns that may present during that time. For many of these features, there is a link to more specific information. Lastly, there is a third document that describes how to translate a microarray report into a personalized syndrome description. In other words, it is a step-by-step guide to figuring out which genes a person is missing and what, if any, effect they may have may have when deleted.
We at the Chromosome 18 Clinical Research Center hope that families find this information to be a useful tool that will help their physicians be better informed. We invite everyone to review these documents and to share them with their health care team.
Chromsome 18 Clinical Management Guides -Click Here
Courtney Sebold, MS, CGC
Genetic Counselor
Chromosome 18 Clinical Research Center
UT Health at San Antonio
I’ll close for now, and hope that you and your family are looking forward to your summer break.
Take care, and keep in touch
Bonnie McKerracher, Secretary
Chromosome 18 Registry and Research Society (Europe)
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