Season’s greetings and
a happy new year to everyone.
Until now I have been
fortunate with material for the newsletter but this issue has been solely
written by me (excluding Flo’s piece) – so please contributions. This
newsletter has come at a very busy time for my family including a couple of
hospital stays for Jessica, a burglary and major decorating – Flo and I have
had no bedroom.
It has taken me over a
month to write this issue. Carol Thomas needs just as much help as me, for
example we need a database of members. We have the information all we need is
someone to give up a few hours to set the database up, after that it is easy to
update. In France Carol and I spent over an hour comparing recent address
changes and email addresses – we also have incompatible lists so they cannot be
updated easily.
More importantly the
Group can easily obtain funds to help to provide information and services to
its members. The drawback is that Carol is struggling to find time to put
together a business plan. There is money to be taken out there. Our aim is to
be able to employ someone who then does not have to juggle work, childcare,
hospital appointments etc.
Another example is that
from the France trip we discovered that if there are 3 national groups money can
be obtained from the EU for joint projects, research etc. Until recently I was
only aware of the French group and us in the EU but I have come across the
Dutch group. I have made contact with them but have not had time to pursue it
any further.
If anyone thinks they
would like to help us but cannot think how, please contact Carol or me. You
can’t just rely on us two, if you do the group will fold. It’s up to you.
Simon
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NEWS
It seems so long ago
and for me this was a second instalment of three CHARGE related events, the
weekend previously having been in France and to be followed the next week by a
Sense Saturday Club.
The Royal School for
the Deaf in Cheadle Hume had proved popular last year so the Family Day was held
here again. With the group’s offer of paying for an overnight stay at the
Travel Inn by Manchester Airport (only 10 minutes away) it enabled families to
attend from as far apart as London and Scotland.
With the journey being
much better this year we had the opportunity of bumping into a number of
families and eating dinner with one. One little problem was rather than Jessica
it was Elly this time who threw up on the journey.
Sunday morning
breakfast was spent chatting with various families comparing stories etc before
going to the school. This year Carol had organised some helpers from Sense
North and also for some music workshops for the children. It was very helpful
to have the volunteers and the musicians were very popular (as well as being
very good) with the children whether with CHARGE or their siblings.
The hydrotherapy pool
was so popular that there was a queue to use it in the morning. There was
however this year no music being pumped through the water with lights creating
patterns on the ceiling. In addition to this pool there was a swimming pool
available in the afternoon. The sensory
room also proved popular but I remember more the adults sitting shoeless on the
floor gossiping in there rather than the children playing.
In addition to the musicians
the school’s musical instruments were available many designed for deaf children
so for much of the day there was a lot of noise. During the AGM of the group
the musicians put on a special session but prior to this I seem to remember
that the microphone was dominated by a certain young boy enjoying himself
(Louis Bargeman not mentioning any names)!
This year Jeremy Kirk
was able to attend the Family Day and gave us an explanation of the CHARGE
gene, testing and his thoughts on testing in the UK (see below). He also spoke
extensively about growth, puberty and osteoporosis regarding children with
CHARGE.
When the meeting closed
it was time for us all to head home. As with anywhere on the motorway system on
a late Sunday afternoon in the UK traffic was terrible so it was a tired bunch
of people who arrived home – Elly deciding also to throw up on the journey
home.
On a personal level I
enjoyed this years Family Day since I was able to chat with other parents. Last
year I spent the day chasing Jessica and her walker up and down the corridors
of which there were too many – mind you Elly our other daughter (aged 2) was
caught making a bid for freedom in the grounds of the school this year. Maybe
in the future she can explain what she was up to?
Thank you everyone for attending and helping
make the day special. Finally many thanks to Carol Thomas for organising the
day and also for Jeremy Kirk attending.
Dr Jeremy Kirk who
is a consultant paediatric endocrinologist at Birmingham Children’s Hospital
attended the Family Day. He has long had an interest in CHARGE and is involved
in the group as its chief medical advisor. For a number of years he has had a
number of blood samples of children and parents in storage pending such a gene
discovery as I covered in the last newsletter.
He gave an
explanation of the results and compared the size of the gene and the size of
the mutation to a book containing 500,000 words and an error being in one word
ie it is a very large gene and a very small error but obviously with
significant consequences.
Although the Dutch
researcher had offered to me to carry out tests for the families here for free
(otherwise a test is €650) provided it was on a research basis, Jeremy and the
parents at the Family Day were concerned that ‘we’ would not have ownership of
the results.
It was agreed that Jeremy would try to obtain research funding here to carry out our own testing. I am pleased to say that he has already obtained initial funding and has an experienced researcher available to enable testing to be carried out on those samples he already has. He will also be looking to test new samples. Anyone interested in having their child and themselves tested (the purpose of the parental test is to ascertain whether they have gene mutation) please contact me.
Osteoporosis and puberty
Jeremy naturally also spoke about the above topics. As you are also aware Dr Kim Blake in Canada is carrying out into osteoporosis and a number of you have completed her questionnaire. This subject was covered at the French conference and also in Canada recently.
Fundamentally it is very important for children to go through puberty whether naturally (unlikely) or assisted because it is very important for them to build up their bone density. If they don’t there is a high risk of early onset of osteoporosis. It seems that both Jeremy and Dr Blake are of the opinion that parents should be pro active and not wait until there seems to be a delay in puberty before seeking medical intervention.
CHARGE definition
In the last few years
there has been a clear shift in the medical definition of CHARGE and with the
gene discovery it cannot be called an Association anymore but is definitely a
Syndrome.
Our constitution is to
change to reflect this and include the definition set out below. Sense in
conjunction with the group is updating all their advice sheets relating to CHARGE
including this.
The current diagnostic criteria consist of four major characteristics: coloboma, choanal atresia, characteristic ear anomalies, cranial nerve dysfunction (facial palsy, vestibular dysfunction and swallowing difficulties) and seven minor criteria: heart defect, orofacial cleft, genital hypoplasia, growth deficiency, developmental delay, tracheoseophageal fistula and a distinctive facial appearance. The diagnosis is firmly established when all four major or three major and three minor are present. (Note the definition of major/minor does reflect the seriousness of any of the criteria).
I also understand that it is only in CHARGE Syndrome that Coloboma and Choanal Atresia are found together.
I am pleased to say
that we have had a good response from older children/young adults to the
weekend run by Sense and the support group including wanting to be involved in
the organisation of the weekend. At the weekend, which will take place in March
2005, young people will have an opportunity to explore the issue of 'looking to
the future' -their plans, hopes, dreams and aspirations - using a range of
creative methods.
On 7th November Sense
and the members of the CFSG committee met with a group of young people with
CHARGE in Peterborough to hear their ideas for the weekend. The group
discussed ideas for a venue, the date, and activities that they wanted to see
happen - ideas for the latter include drama, making a video, using IT, and taking
and manipulating digital pictures.
The Steering Group
is currently finalising plans for the weekend, using the ideas from the young
people, and more information will be available in the New Year.
There are a limited
number of places available on the weekend, so if you are between the ages of 16
and 25 and would like to receive more information, please contact Sarah
Teischler at Sense on telephone 020 7272 7774; text 0207272 9648, email
Sarah.Teichler@sense.org.uk
The weekend is being
jointly funded by the Department of Health's 'Opportunities for Volunteering'
scheme, the CHARGE Family Support Group and the proceeds of fundraising.
Conference
in France – September 2004
Carol Thomas and I
decided to attend the conference on CHARGE put on by Cresam and the French
family support group as representatives of our group to meet members of the
French group and to develop links. The conference started on a Friday afternoon
and finished on the Sunday lunchtime. Carol fortunately is fluent in French
amongst other languages – I haven’t spoken it for 20 odd years!
For those of you who
attended the CAUSE conference last year and remember the delay to the start due
to the late arrival of the Princess Royal the same happened here. The
politician due to open the conference here was late! This lessened the impact
our delayed arrival. There was at least 100 people in attendance with half of
them being parents.
Over the three days there
were speeches on presentation of CHARGE, the gene discovery, cochlear implants,
vision, growth and puberty, smell, cognitive development, behaviour &
communication and multi sensory approach to development.
Of most interest in some
ways was the parents’ discussion on the Sunday morning. It doesn’t matter where
you live the issues are the still the same – education, support of whatever
type etc. Out of this discussion came the possibility of EU funds (as mentioned
above). Carol also gave a presentation on our group. It is hoped that we will
maintain and develop a relationship with the French group.
Again on a personal level
it was lovely to meet David Brown again (he was thankful for fellow English
speakers!) and also Jacques Souriau who left his son’s wedding to give a
presentation, some dedication.
Research
Carol Thomas posted the
following on our forum.
Researchers
employed by the Universities of Sheffield and Newcastle are carrying out a
study on the care experiences of parents of disabled babies and children. This
study has been funded by the Economic and Social Research Council. They are
particularly interested in looking at parents’ experiences of negotiating the
health care system, and how that has helped or hindered their lives as families
with disabled babies and young children up to the age of 5. As part of the
project they will also be talking to health care workers, to get their angle on
the services they provide. The aim for the project is to show what experiences
families have when they have a disabled baby/young child, and to see what
lessons that experience might have for the ways that health services are
delivered.
If anyone is interested is taking part in this research, please e-mail me and I
will forward on to you the information and contact details.
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SENSE ASSESSMENTS - PROFESSIONAL vs PARENTAL VIEWPOINT Part 2
Parental – Simon
Having seen Bev Mars
and Gail Deuce regularly at the Sense Family Day/Saturday Clubs and heard them
talking about the number of assessments they were doing at Sense, Flo and I
decided that it was about time that Jessica had a fresh assessment.
When she about 18
months old we had an assessment with Sense that focussed on hearing because her
hospital hearing tests were inconclusive. Jessica has not liked the hospital
testing! In more friendly surroundings with the use of various toys and musical
instruments she responded to sounds at a level she didn’t at hospital.
We had originally
thought that this new assessment should be on general development but with her
school wanting to focus on her expressive language we decided that this should
provide the main object. Bev and Gail
were happy with whatever the focus we wanted. Although Jessica understood quite
a lot of sign her idea of expressive language was to drag you to what she
wanted, unless it was biscuit or cake she wanted when she would sign her
wishes.
The assessment was held
at the Anne Wall Centre in Barnet – extreme north London for a South Londoner –
a place with which Jessica was familiar. Our concern (and that of Bev and
Gail’s) was that Jessica would try to sabotage the assessment by grabbing
anybody’s hand (providing it was not Flo’s or mine) and lead him or her up and
down all the stairs in the building. This was something that she had done to a
variety of volunteers at the Family Days/Saturday Clubs we had attended.
Fortunately everyone was wise to her and she was distracted from this activity.
We were pleased that
Jessica’s speech and language therapist, her school one to one worker (with the
school’s interpreter since she is deaf) came and were keen to learn anything
they can.
Basically Gail (as she
described in the last newsletter) took the lead in the play and engaged Jessica
over a period of a number of hours in a variety of activities that Jessica
enjoyed such as a rocking boat, water and sand activities, the sensory room and
some turn taking. Within these activities for Jessica to continue with them she
had to indicate her wishes ie sign. She soon cottoned on.
Amidst all this with a
bunch of adults standing around, Elly (our 2 year old) decided that not only
did she have an audience but also with so many toys/activities she could
indulge herself with she was going to have a ball - literally. Unfortunately
this included flying straight over the top of a physio ball the size of her and
prior to her demand ‘nappy off’, falling head first (with 3 adults in close
attendance) into the small pool where the water play was taking place – she
kept her socks dry somehow!
What did we learn? Most significant was the impact of balance on communication. In this context Sense have made suggestions about how to minimise this impact. They have also given ideas to both us and Jessica’s school regarding teaching her. There is also a greater awareness of how Jessica overcomes her impairments. Bev and Gail you have been warned we will be seeking further assessments of Jessica.
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PEN PORTRAITS
Please more, I have
none for this newsletter. They are very popular with parents.
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FUNDRAISING
Flo Njeru
I asked Flo to write me
a piece on the run but hadn’t seen her ‘pay up time’ email. This is printed
below (with apologies about references to people you have never heard of) since
it captures how she was for a few days after the run. What she doesn’t say is
that she ran it in 30 minutes, not bad for someone who hates running. The final
amount Flo raised is £750. Apparently she is threatening to walk this event in
a couple of years with Jessica (this will be the biggest circuit that Jessica
has done!).
Hi friends and family,
I DID IT (brag brag
brag, smug smug smug!!! - sorry Pete and Unity, I know you know this already
but thought I would tell you again!).
Apologies all about the group e-mail, I am just really busy right now,
but I will get round to mailing you all in due course. I am at home on study leave but have not yet
got round to it (10.43am), hence the group mail.
Well, to get back to
the subject at hand, as I said, I DID IT!!!
On Sunday 5th Sept, I completed the 5K run that I had been collecting
sponsorship for. I am still reeling
with the adrenaline rush and walking (well, hobbling) around saying "I
can't believe I did it" - for those of you who saw the very accurately
(?!!!) quoted Sun article on Jessica and CHARGE, I obviously walk around saying
"I can't believe..........." a lot (but that's another story). Those who know me well will not be surprised
to hear that I left training till the very last minute and then panicked into a
mad intense regime in the last 4-5 weeks.
The gym instructor tried to slow me down but all those years of being
indoctrinated in karate that when you are about to keel over you find another
pile of energy must have worked, so I ignored him. (No Priti, my body is no longer a temple! I had to dull the pain somehow! It is more of an old ruin now!).
Anyway, Sunday was
fantastic. There is nothing quite like
20,000 women congregated in one park to do the run/walk. The atmosphere was
fantastic, the sun was bright and hot (not necessarily a great thing on the
day), and I won't tell you the story of what my colleagues and I had to do to
avoid the toilet queues (another time perhaps, you can enjoy my humiliation!).
You will all be very impressed to hear (especially Louise) that I ran all the
way despite thinking at 3K that my lungs were about to burst. Now of course, I
am really paying for it. My poor old
legs are in so much pain I am now walking with Jessica's gait. My 3 colleagues who ran with me though are
perfectly fine. Something I think to do
with the fact that they consistently trained for 6 months instead of 5 weeks!!!
(there is a lesson in there somewhere but I doubt that I will learn as I have
been a put it off to the last minute person for several years). I am going to the gym tonight to stretch all
the pain out of my system (as I said earlier, some foolish notion about
"the hair of the dog that bit you")!
Anyways, the point of
all this is to say a HUGE THANK YOU to all of you for sponsoring me to raise
the money for the CHARGE Family Support group.
I have so far had the promise of £643 (plus whatever your colleagues may
have raised Elaine, plus one or two others who committed to give me something
but we never got round to discussing amounts.). I am really pleased with this as my pessimistic initial target
was £100. Of course I could not have
raised it without you guys so thank you so much. I will of course let you know the final figure when I have
collected (I am giving myself a couple of days' rest first!). Some of you have already given me the
money. Would the rest of the far away
bunch please send me a cheque made out to the "CHARGE Family Support
Group"? Most of you know my
address, but for those who do not, it is 59 Elmer Road, Catford, London SE6
2HA. Those who live close enough, cash
or cheque, up to you.
Unity kindly sent me a
photo she took on the day, so I will mail it to you (should have thought of
that before I got this far in the e-mail!).
Wishing everyone a very
happy week (plus plus plus), and again, thank you everyone.
Lots of hugs all
round......
Flo
If anyone is looking to
raise funds for the CFSG Carol has sponsor forms available.
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FEEDBACK
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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A continued plea – if you have not given either Carol or I an email address when you have one please do. Newsletters sent out by post go out at least a week later often longer after they are emailed because of the amount of printing and stuffing of envelopes etc (remember this is done in my own and Flo’s time). Many thanks to those who have recently provided me with addresses.
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CHARGE Family Support Group Website
http://www.widerworld.co.uk/charge
Carol Thomas (Chair)
Telephone: 01484
646828
Email: cajthomas@btinternet.com
Barbara Payne (Secretary)
Telephone: 0113 286
8350
Email: To be advised
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
Yvonne Arnold (Committee)
Telephone: 01708
764533
Email: eveian@btinternet.com
In Scotland Elaine Murray- Bell is
available as a point of contact.
Telephone: 01387
250284.
Her email address is: Jmurraybel@aol.com
The views expressed in this newsletter are not necessarily
those held by the CHARGE Family Support Group.