Greetings everyone.
Sorry again for the delay for the newsletter but I have had little time to
write it. Please send me anything that you want or think should be included in
the newsletter since this newsletter is for your benefit and not my ego.
The issue has an
international flavour with a report on the International CHARGE Syndrome
Conference in Miami and the DBi world conference in Slovakia.
Family Day is in a
couple of weeks (18th September) and both Jeremy Kirk (medical
advisor to the group) and Gail Deuce from Sense (specialist multi sensory
impaired teacher) are attending. This is an opportunity to ask questions in a
relaxed and informal environment.
I am slowly getting
your email addresses, sometimes by circuitous routes. Please if you do not receive
the newsletter by email and have an email address contact me – especially those
whose email addresses have changed. I also have quite a number of non
functioning email addresses.
By not giving me an
email address means you could be missing out on information about the group,
research etc since sometimes I have news/info or requests that by their nature
are time critical.
Simon
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Family Day
This is being held
again at the Royal School for the Deaf in Cheadle Hume on Sunday 18th
September at 10.00am. For those not able to arrive there without a journey
remember that the group will pay for overnight accommodation 10 minutes away
from the school. I reiterate that this year we have both Jeremy Kirk and Gail
Deuce attending. Contact me for details.
Update – Jeremy Kirk
Jeremy now has
funding to establish a clinical screening service for CHD7 (CHARGE gene) in
Birmingham. It is hoped that this will be a national service. Those parents who
previously gave him blood samples of themselves and their children need to give
retrospective consent for testing. Please contact me if you were one of these
so that information sheets and consent forms can be sent to you.
With the research
testing I recall Jeremy advised me that out of 26 samples 14 tested positive
for the mutation in the CHD7 gene.
There is a new family
group that has been set up in Belgium. Its website is www.asblchargevzw.be and the contact
email address is plehanceassocharge@yahoo.fr
There is also a forum
in Germany that can be found at
http://www.charge-syndrom.de.vu
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There are no pen
portraits because none have been sent to me. I NEED them so write about your
child, grandchild or if you were born with CHARGE write about yourself. However
I have received a story from Jack Murray-Bell who is 7. He writes many of these
stories and I believe that these are some of the few times he stops talking!
One afternoon I went in the rocket. I went up a ladder. I went in a
control room. I sat down. I pressed a button. The rocket blasted off into
space.
I was space sick because the rocket went very fast. I saw lots of planets out of the window. I
saw a good planet so I pressed the button to land.
I got out of the rocket and I was on the moon, there was an alien with 7
eyes. I didn’t see him because I was looking for scary things and air the alien
could see me. He was frightened so he jumped off the hill.
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Flo and I decided that
we would take the girls to the conference in Miami at the end of July. This is
a bi-annual conference that has been held on 5 previous occasions and this year
there were over 500 people in attendance. Once we had raided Jessica’s savings
for the flights the enormity of taking 2 girls aged 5 (with CHARGE) and 3 on a
9-10 hour flight and then face the joy that is US customs began to dawn.
Having nearly missed
our flight due to an accident (not us) the journey went smoothly – shorter than
expected flight and through US customs in 5 minutes! We arrived at the
conference hotel (if any of you know Miami Beach when you walk past any hotel
pool there you walk out on the beach) 3 days early to accommodate the children
adjusting to jet lag. Very soon we recognised people from Australia and the
States that we have had email contact with. During the course of the next
couple of days more families (and some professionals) arrived some we knew many
we didn’t. As Meg Hefner, geneticist with CHARGE Syndrome Foundation said when
she looked out of the window from their meeting “the pool was full of ours” ie
CHARGE families.
I should point out at
this stage that both Flo and I are active on the CHARGE listserve (see below)
and have over the past few years got to know other parents, some young adults
with CHARGE and professionals throughout the world via the internet. In addition
as part of what I do for the UK group I have made contact with other CHARGE
groups across the world.
As you can imagine the
hotel was full of children with CHARGE and therefore it was fantastic that as a
parent you were not made conscious of your child’s idiosyncrasies or have to
explain them – mind you it’s scary when a 6 year old child with CHARGE makes a
beeline across the child pool for your nipple ring!
In the same vein there
was no ‘us and them’ with the professionals attending the conference. CHARGE
Syndrome is still a little known syndrome, although awareness is increasing and
for example Sense now consider the main cause of congenital deaf blindness in
the UK is CHARGE. As a result it is better to describe those professionals who
have an interest as having a passion. Everyone was very open and accessible and
much useful discussion happened at the pool bar. Over the duration of the
conference I had such important discussions as the quality of American
chocolate (David Brown), the problems of being a busy soccer mum (Dr Kim
Blake), where the queues were at Animal Kingdom (Dr Jeremy Kirk) whilst Jim
Thelin (audiologist) and I demonstrated Aikido wrist throws to Flo and Nancy
Hartshone during the poster sessions to the bemusement of other conferencees.
There are some others I cannot disclose!
Enough light
heartedness.
Who presented at the conference? One of the
key presentations was by Connie van Ravenswaaij on the gene discovery
and this was later followed by a question and answer session involving her,
another colleague, Baylor Institute (a US research establishment) and Genedex
(a company offering gene testing services).
What can I add to what
you’ve read here before? The Dutch testing originally was very wide including
children who perhaps had only a couple of elements of CHARGE and it is clear
that those children who tested positive for the gene mutation were already
clinically diagnosed.
Connie again made it
very clear that the gene mutation is de novo ie the parents are not carriers and
that it is a genetic aberration in the child. As a result this is of no
significance to a sibling.
To show how variable
someone can be affected there are twins with CHARGE whose symptoms are very
different.
One very positive point
that came out of these presentations is the fact that Connie, Baylor and
Genedex are looking to assist each other rather than keep secrets.
The other keynote
speaker was a 21 year old Australian woman with CHARGE Belinda Arnell
whose presentation was very funny without belittling her problems. In addition to this there was a question and
answer session with a
panel of young adults
with CHARGE. I did not attend this session but got the
impression that the parents who attended raved about how wonderful the panel
were. I also understand that problems and issues that the panel members have in
life (some quite considerable) were glossed over. It is interesting to
highlight here comments made by Joff McGill in the paragraphs on ‘Range of
abilities’ and ‘Young people’ in his piece on the Dbi conference below.
Outside of these there were probably too many presentations and on several occasions there was a choice of more than 2 to attend. Flo and I only once went to one together that was David Brown’s presentation ‘Emotional Health as a Key to Successful Education and Development’. It is the third time I have heard David speak and I have also read a couple of articles written by him. All of these have revolved around a theme and this is not a criticism, because every time I hear or read David I learn or realise something new. On this occasion it emphasised the need to minimise the stress in our children’s lives. This stress relates to their sensory input be it too much or too little. To use a quote from his article in the American Journal of Medical Genetics “Time spent trying to reduce stress levels, and trying to give the children acceptable strategies for doing this for themselves, must be one of the most precious gifts we can offer them, and one of the biggest favours we can do ourselves as educators, therapists, and family members.”
There were specific
sessions for siblings and grandparents. Although my daughter Elly
is only 3 I can see how her sister Jessica’s needs have impacted on her. It is
important for parents to take into account how CHARGE (or any other disability
for that matter) affects siblings. At the bottom of the article I have set out
some sibling support details.
Kim Blake’s
presentation on osteoporosis clashed with Jeremy Kirk’s on growth – not the
best scheduling so they decided to do a double act and present 2 one hour
presentations in one hour! Again Kim’s
presentation emphasised the problem that our children have (based on her recent
study). She explained that calcium intake in preadolescent years is a key factor
in the development of peak bone mass and what the risk factors were in CHARGE –
delayed/absent puberty, poor diet (low calcium and vitamin D intake) and
inactivity. It’s not difficult for us to think why these factors are present in
our children.
The solution? Keep our
children active and ensure sufficient calcium and vitamin D. Use supplements
and oily fish. Also ensure that your child sees an endocrinologist. This is
where Jeremy comes in!
His presentation was 2
fold relating to growth and puberty. Apparently growth for us occurs in 3
stages and for children with CHARGE there are potentially problems in all of
these be it nutrition, growth hormone or sex hormones. He also pointed out that
if the gene CHD7 is expressed in the pituitary gland then this is likely to be
the cause of shortness (however there is little data).
Again puberty raised
its head not just in short stature but also in the lack of it in children with
CHARGE. It should be assumed that any child with CHARGE is going to have a problem
with puberty.
Although Jeremy went
through the testing and issues of growth hormone deficiency and its
rectification, likewise puberty we arrive back at the issue of osteoporosis
potentially in young adulthood – so growth and in particular the going through
of puberty are so important.
On to a presentation I
didn’t attend but Flo thought hit the spot. Tim Hartshone spoke about Mistaking
courage for denial: family resilience after the birth of a child with CHARGE
Syndrome. As many of you know Tim is a parent of a teenager with CHARGE as
well as being a psychologist. This examined ones responses to your child, its
situation and the way he/she is sometimes viewed by professionals. You’re
damned if you’re strong and you’re damned if you are weak ie if unhappy and
discouraged you need help or if happy and optimistic you are in denial. Tim
also spoke how roles can change in relationships. As a side issue he commented
that neither he nor Nancy do the housework. This appears to be not unusual (as
Flo and I are trying to find time to send the kids to relatives so that we can
try to get some order back into our house let alone the 4 years of paperwork
that needs proper filing!).
2 years ago the theme
of the conference related to behaviour. This one seemed to have a communication
theme.
Given that Jessica
doesn’t have feeding issues Flo and I did not go to Sara Rosenfeld Johnson’s
presentations – Feeding & Speaking and Sensory deficits and how they
impact on feeding and Speech. I know that these were very
popular and she also
spent a lot of time testing children at the conference. From her printed
material I can say that feeding is very important to speech
since the muscles used
are the same. She went through types of food to use to progress feeding and
also how to use different straws both in diameter and shape – those novelty
straws do have a use!
The communication theme
continued through such presentations as Reading behaviour as communication
(by Sharon Barrey-Grassick and Tim Hartshone)
‘acknowledging behaviour as communication can be an effective way of
preventing challenging behaviours from emerging’ and ‘as parents…. we must
learn to read the behaviour and respond accordingly’; The role of visual
processing in seeing, learning, relationships and communication (by Kim
Lauger and Ann Gloyn; Range of effective modes of communication (case
studies); How to enhance communication and learning in children with CHARGE
Syndrome ( Dr’s Jan Dijk and Arno de Kort).
For new families
attending there was a multi person presentation called CHARGE 101. From
this I should highlight Meg Hefner on ‘Characteristic and Diagnostic
Criteria’ that ‘no feature in CHARGE is sacrosanct. In other words any
given feature can be absent or present and, if present, maybe mild, moderate or
severe.’
You will have to
forgive me but I do not have space to explain Jacques Souriau’s - An ecological
approach to development; Jan van Dijk (as above) he has a CD rom available or
George Williams’ - The neural crest in CHARGE Syndrome despite being fascinating
to either Flo or I. There were also quite a number of other presentations.
What has the UK group
got out of me going to the conference? Although I have sought contact with
other groups it makes a huge difference to actually put faces to names. As Meg
Hefner said (paraphrased) ‘when you have met someone you get a feel for them
and you realise whether a comment made by them is serious or in jest’. Following the conference I have been able to
exchange/seek information. Those with emails will know I have sought
participation in a worldwide study in charge. It will enable me to obtain
information for you that otherwise is unavailable. Previously these links have
recently enabled people to take part in an osteoporosis study (see report on
Kim Blake).
Mind you David Brown in
his closing speech did comment that people would only hear Miami and think
holiday and not conference. So what are you to know?
I have copies of a
number of the presentations from the conference. If anybody is interested in them
please contact me, but please be patient. I will forward them when I have some
spare time.
CHARGE Listserve - CHARGE@yahoogroups.com (worldwide
discussion forum for parents, professionals with an interest, people with
CHARGE etc)
Group for siblings of
children with CHARGE (moderated by a
young adult with CHARGE) - http://groups.yahoo.com/group/CHARGESibs
Sibs Helpline
(Mon-Thurs 10-4) tel 01535 645453
Sibs, Meadowfield,
Oxenhope, West Yorkshire, B22 9JD
Website: www.sibs.org.uk
SibNet@yahoogroups.com (this appears to be for older siblings)
SibKids@yahoogroups.com (this appears
to be for younger siblings ie under 18
Sibling Support
Project - www.thearc.org/siblingsupport
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6th Dbi World Conference in Slovakia – Joff McGill (head of Voluntary Services, Sense)
The beginning of August
saw 400 people descend on Presov in the East of Slovakia for a wonderful
Deafblind International World Conference. The range of people there - deafblind
people, families, professionals - meant the networking opportunities were
endless and there were always interesting people to share experiences with,
learn from and to generate new ideas.
Of particular interest
was the fact that the programme included 6 hours worth of sessions on
CHARGE. Around 28 people attended all six hours of
this 'stream' including
our very own Carol Thomas. The participants ranged from those who had
significant experience of working with people with CHARGE and others who wanted
basic information about the condition.
Perhaps the most
interesting thing to come out of it was a set of 'competencies' needed for a
team of professionals working with a person with CHARGE. This came out of
a talk Carol Thomas gave about what she expects from professionals and an
exercise about what are the knowledge, skills, qualities and attitudes that a
perfect professional needs. What was interesting about the list was that
those skills and qualities the group decided were core (knowledge of the
individual, knowledge of and sensitivity to the person's communication, belief
in the development potential of the individual, an active listener to all involved in
support to the individual, a good observer, empathy, knowledge of child
development, time and patience etc) was that they were
universal – the sort of skills and attributes we could expect of anyone.
Of course within a team of professionals providing support specific skills and
knowledge are needed, but all the team need to have these core
'competencies'. It is hoped that the Deafblind International CHARGE
network may develop these competencies and point budding CHARGE professionals
in the direction of learning opportunities so they can develop them.
Other key themes
emerged from the 'stream':
It was recognised
throughout the stream the importance of understanding that people with CHARGE
are truly multi-sensory impaired and the impact this has on how they make sense
of the world around them and the strategies they develop to balance the sensory
input they get. Reference was made to several of the articles in the American
Journal of Medical Genetics.
Participants in the
stream drew the networks they have with people with CHARGE, their families, the
professionals that work with them, and organisations. We concluded that
for people with CHARGE to fulfil their potential these connections/networks
need to:
·
Have a clear purpose
·
Be open to new knowledge
·
Have clearly defined roles and responsibilities
(it is hard to keep networks going sometimes)
·
Recognise the impact of the internet but not to
forget that access is not universal
·
Share experiences and inspire each other
·
Maximise international links
Ulla Holmqvist-Ang from
Sweden helped us in this section.
We reflected on the
fact that children with CHARGE have a huge variety of abilities and
disabilities so we must never underestimate them, but also recognise that it is
hard for some families to always see images or hear stories of the CHARGE
'high' achievers. We were told this point was made at the recent Miami
conference as well.
With the help of
Jacques Souriau we recognised the importance of interactions between parents
and child, between children, between children and others around them.
To encourage
interactions we need to:
·
Sustain activities - allowing the child to dip in
and out at their own level
·
Ensure activities are dynamic and allow
inspiration
·
Provide environments that are strong, secure, but
not over protective
·
Allow exploration and risk taking
·
Encourage and recognise communication at all
levels.
Corinne Blouin from
France and her colleagues helped us see the importance of allowing children to
find their own 'space' and position where they are comfortable and can give
their attention - they even physically demonstrated some positions CHARGE
children use - I for one will not forget the sight of three French
presenters wrapped around table legs. Corinne also reminded us of
the importance of touch for children to feel the emotions of others.
We watched a video of
young adults with CHARGE getting together for the first time in the UK and
exploring their hopes and fears for the future. We reflected that as children
get older and more adults are identified with
CHARGE we need to focus
on young people and young adults as well as children; not just to focus on
their health issues but most importantly their hopes, fears and dreams.
People said they
enjoyed the stream - at the end everyone was asked to write down on postcards
some of the things they were going to take home and do differently as a result
of the stream. These were posted to participants so when they got home
they would have a reminder of all the things they said they would do when they
got home. Ideas people came up with as a result of the CHARGE stream
included: try and establish CHARGE network in Estonia, join the DBi network
listserv/e-group, read articles on CHARGE, discuss core skills and how to
incorporate them into staff training, establish a newsletter in Denmark about
CHARGE, share the resources with others and tell fellow professionals about the
various networks, re establish links with David Brown.
If just a few of these
are followed up then the six hour focus on CHARGE will have been very
worthwhile.
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RESEARCH
There is a
worldwide study about to start of children with CHARGE syndrome from the ages 9
through to 21. Little is known about the impact of CHARGE on adolescent
development. The study will be looking
at issues related to puberty, behaviour, adaptive behaviour, and executive
function, as well as other medical issues that may develop during adolescence.
This is being conducted in the States, Canada, Australia and here.
If you are
interested contact me although it maybe that the participants have already been
selected.
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FUNDRAISING
Message from Flo. She
and Alexis (newish mum of boy with CHARGE) have had a mad idea of organising a
CHARGE group for the Hydroactive 5K women’s challenge on 3rd
September 2006 in Hyde Park (you may recall that Flo ran this last year to
raise money for the group, this year she ran for Sense and at some point next
year she is intending to run a 10K for the group). There are also runs in
Birmingham and Liverpool. Any takers for the 5K women’s challenge? It can be
run, walked or push buggy/wheelchair etc.
If anyone is looking to
raise funds for the CFSG Carol has sponsor forms available.
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As ever
please give me any comments – positive or negative - about the newsletter. I can only improve it if you give me
feedback.
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Please see my
introduction.
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CHARGE Family Support
Group Website
http://www.widerworld.co.uk/charge
(Please note that until
the end of September the website is not available. The family that host the
website are moving and until they are in their new home at the end of the month
the website is not accessible.
Simon Howard and Flo
Njeru
Telephone: 020 8265 3604
Emails: si_howard@hotmail.com
or flonjeru@hotmail.com
(note if you are not
using a hyperlink for my email it is si_howard@hotmail.com – the underscore
cannot be seen on the link)
Any problems with my
email please use Flo’s or my work callingtonestates@yahoo.co.uk
In Scotland Elaine Murray- Bell is
available as a point of contact.
Telephone: 01387 250284.
Email address is: Jmurraybel@aol.com
In Wales Heather Jones
is available as a point of contact.
Telephone: 01267 233960
Email: howardsway@btinternet.com
The views expressed in
this newsletter are not necessarily those held by the CHARGE Family Support
Group.