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.
https://www.marriott.co.uk/hotels/hotel-photos/edieb-edinburgh-marriott-hotel/
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.
Chromosome 18 Europe Update
Spring 2017
Membership: IMPORTANT!!!
Jeni Morrison, our very conscientious membership secretary, sent me an email which started
on facebook we have 76 people who are not members with us and not listed on
Salesforce (the worldwide membership database set up in US).
To safeguard the privacy of our families, our Chromosome 18 Europe Facebook pages are closed.
She will be sending out a message to everyone who has not registered as a member of
Chromosome 18 through either www.chromosome18eur.org/membership or through
www.chromosome18.org over the next few days to let them know that they will not be able to
access our FB pages until they have updated their membership.
If you receive a message from Jeni, please, please respond right away so that she can
confirm your status as a member and keep you in touch with our huge global family.
You can contact her at [email protected]
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 [email protected] in Italy
Donna McDermott [email protected] in England
And I know some of our European families will be travelling to the annual conference in US:
Safe travels!
The 24th Annual Chromosome 18 Conference is just under two months away and we want to remind
you that registration is now open. This is the pinnacle of the year for many families to come and
share experiences, stories and learn what's new and be part of this wonderful few days that we
guarantee you will remember. Catch up with old friends, meet new ones and bring the whole family
along to join in the fun!
Please check out all the registration details and information about this year's conference taking place
in Naperville, IL, Thursday, July 13th through Saturday, July 15th.
You can book your Chicago Marriott Naperville hotel room here or call +1-630-505-4900.
Everyone must pre-register online. There will be no on-site registration.
Registration prices go up on June 13th!
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…
Chromosome 18 Europe Update
Spring 2017
Evelyn O’Sullivan in Ireland posted this on Facebook recently:
Mia surprised me yet again with her sheer determination and ability to stretch
her limits. We climbed diamond hill (mountain) in Connemara yesterday. At
times we were pushing her up sheer rock and flashes of being air lifted crossed
my mind. Berating myself for taking on too much. But no we made it right to
the summit with what seemed like Gael force winds up there. Her big sister led
her back down. The whole lot took us close to 3 hours we covered 8.2km
including a 442m high peak. So never say never for your children. Mia aged 11
Tetr18P.
And Matthew Bates is doing it again! He participated in The
Wilmslowe triathlon on May 14, and this weekend he ran I
the Liverpool Rock’n’Roll Marathon. Is there no stopping –
or catching – this young man???
Jean, his mum, has taken to marshalling for some of the
events. But getting into the freezing water for those swims
is definitely above and beyond! Keep on keeping on,
Matthew
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.
Chromosome 18 Europe Update
Spring 2017
Marianna Kuorrtti in Finland travels to Chromosome 18 conferences all over: I met her many (it seems!) years ago at one
of the US conferences, and no matter where I travel, Marianna is there too. She kindly sent me this piece about her
lovely son.
Kim is 17 years old young man. He has tetrasomy18p.
He has communication challenges, he has difficulties in controlling his emotions, he has lovely smile, he has humor, he
tells jokes, and his laughter is contagious. He talks almost all the time, part of his speech is hard to understand but he is
quite patient and does not mind repeating. In fact he is a master of repeating; at least his family thinks so. Kim has an
addiction; he is addicted to helium balloons.
Kim lives with his mom in Veikkola, Finland. Kim has two siblings, they are adults and living on their own. He studies
second year at Keskuspuisto Vocational College in Helsinki. Kim is learning life skills. Kim’s group goes often on field trips.
They use public transportation and the college has own vans too. Kim has visited art exhibitions, concerts and sport
events. He has had opportunities to try various sports. He learns how to act in grocery stores, in department stores and
at malls. They learn how to behave in restaurants, and they eat once or twice a month in restaurants.
On the March 10th, 2017 Kim was part of a small group, just a few students & staff members from the college. They
climbed way over 400 steps on an artificial hill and then they went down the hill on sleds.
That hill is called Malminkartanonhuippu and it is the highest point in the city of Helsinki. It’s height is approximately 90
meters above sea level.
The view from the top is uninterrupted 360° panorama in all directions
(for those who have climbed all the steps).
It was a wonderful excursion. I’m so proud of him.
Kim’s college is awesome, especially the people there.
Chromosome 18 Europe Update
Spring 2017
Many of us have been following Elaine Bennett’s posts about her family’s training and running for charity, including their
amazing donation last year to Chromosome 18 Europe. This year, Arthur joined the team…Love our SuperSibs!
Triathlon Team Active Therapy added 7 new photos.
21 May at 20:11 · Tarleton ·
Here come the best bits! Look at this hero! 7 years old and at 7.45am today this boy was at the pool side ready to do his best! After
his 50m swim he had a challenging transition, (putting trainers on bare wet feet is not the easiest thing in the world) then he
powered into his1600m cycle then rocketed his 600m run! Amazingly proud of this boy. Then back to the b& b to a hot shower and
a breakfast fit for a king. Totally deserved I might add! ♡♡♡♡
Have you checked out the website recently?
Steve and Richard have been busy. You’ll find information about the
Chromosome 18 Research Centre there
http://www.chromosome18eur.org/chromosome-18-europe-researchcentre/
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
https://www.chromosome18.org/registry-newsletters/
Chromosome 18 Europe Update
Spring 2017
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.
Chromosome 18 Europe Update
Spring 2017
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
[email protected]
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)
SCO40399
www.chromosome18eur.org