Welcome to the June edition of the CFSG newsletter

Greetings everyone. I have delayed this newsletter so that I can include a report on the Young People’s weekend at the end of March. I felt that this was a very important event and should be included. Unfortunately the newsletter has become further delayed because I simply have not had time. However I think I have made up for the delay - you have a bumper edition!

You may also notice that there are a number of credits in the newsletter – most of these are not British. It would be great to have more information etc provided by you guys.

I have spoken to quite a number of parents recently and would like to remind you all that if you want to speak to other parents contact Carol or me and we will endeavour to put you in contact with other parents as required. This has come up particularly in the context of parents of older children/young adults many of whom were isolated by the general lack of awareness of CHARGE, lack of the internet etc. This need not happen now.

Simon

NEWS

SHAPE OF THINGS TO COME – A weekend for young people with CHARGE

As highlighted in earlier newsletters this weekend took place at the end of March.

Sense and the CFSG combined to contact all the known teenagers (16+) and young adults (<26) with CHARGE to find out if they were interested in a weekend together. There was plenty of initial interest and those who replied were then invited to take part in a workgroup to organise the weekend as they wanted it. The workgroup produced a wishlist not just in writing but also in pictorial form. A creative arts type weekend was decided upon and the venue – The Watershed in Slaithwaite near Huddersfield, Yorkshire was chosen as a result. This is a ‘participatory arts resource base’ home to 3 community based local arts groups who amongst other activities work with young people and people with special needs.

Participant “The watershed was a great building for all abilities and disabilities.”

Volunteer (About The Watershed) "Brilliant! The energy and enthusiasm from the owners was great!"

7 teenagers/young adults with CHARGE between the ages of 16 and 22 were due to attend the weekend. Their abilities varied - some oral, some signers and others both; some needing much support others little. Unfortunately one was ill and another found the initial experience of arriving at the place where they were all staying too unsettling and did not participate in the weekend so there were 5. In addition there were 7 Sense volunteers including the weekend leaders to provide whatever assistance or support was required. All those that attended including the volunteers had a great time.

Volunteer "I thought it was impressive that such a diverse group of participants all seemed to enjoy the weekend."

Participant (paraphrased) – It was really nice to meet other people with CHARGE and especially not have to explain my vision.

The Friday evening everyone began to get to know each other over dinner and by playing some games. Saturday started off with a percussion exercise. A choice of instruments was available from drums to tambourines. There was solo and group playing also improvisation.

During the day ostensibly as a workshop there was an opportunity to utilise the costume department, so there was much dressing up as for example bikers and flappers with a lot of laughter. Pictures were taken and some printed up on T shirts (others will be used as blackmail material!).

This drew comments ranging from “I liked the dressing up” to “I wanted to steal the hat I wore to dress up in”.

On a more serious level there were life planning exercises including group discussions looking at work/life/social/ health/relationships. The group then split to work in pairs to come up with life plans. Digital cameras were made

A wood and wire mannequin was available during the weekend for people to add to how they thought fit to represent their future, for example one person added a degree certificate.

In the evening everyone went for a Chinese buffet followed by 10 pin bowling. This was very popular.

Volunteer (Tell us about your favourite moment) "Bobbie getting a strike at bowling while talking on the phone. Sheer class!"

It also highlighted how everyone got on. One participant not able to bowl without assistance used a bowling ramp (sorry I don’t know the technical term) with the help of a volunteer. The next time 2 other participants got up with her to help her.

On the Sunday balloons were let off with written thoughts re their future attached.

I have spoken to one of the weekend leaders, a couple of the participants (how do you get any information out of teenagers?) and parents of all the participants. It is clear that everyone really enjoyed themselves, this was apparent even if not formally communicated. One participant ‘told’ her mother that she “felt grown up/independent and part of a group”. It was her first time away from her parents – another parent indicated it was the same for her son. (Not that the parents weren’t worried). For another it was the first time he had met any other person with CHARGE.

The weekend was videoed and is currently being edited. A number of the participants have been in contact with each other since the weekend.

I think that the final comment should go to one of the participants – “would I like to do it again - hell yes!”

The weekend was jointly funded by the Department of Health's 'Opportunities for Volunteering' scheme (through Sense), the CHARGE Family Support Group and the proceeds of fundraising.

NOTE

If there are teenagers/young adults/adults with CHARGE who wish to have contact with others please contact me. I can arrange to exchange email addresses/phone numbers etc. I also have contact details of a number of young adults in, for example, the States, Canada and Australia one of whom has tried to set up a chat room for people of a similar age.

FAMILY DAY

Where this year? This last couple of years it has been held at the Royal School for the Deaf in Cheadle Hume, Manchester. Last year again there was positive feedback about this venue. However if anybody has any thoughts of whereabouts or particular venues then let Carol or I know. It’s not good choosing a place by default.

SENSE WEEKEND

Sense is holding a weekend conference for deafblind people, their families and Sense staff. This is on the weekend of 17^th–19^thJune in Chesham, Bucks. There are 30 workshops focusing on the 50^th anniversary of Sense's service, the future for Sense and deafblind people and other topics. As at any of these weekends there is also much to do socially.

If anybody is interested in attending please contact Sense immediately as they are closing the bookings. The group will consider providing a subsidy to any family attending this event. Sense can be contacted on 020 7272 7774.

(Apologies to those receiving this newsletter by post but it is highly likely that the weekend bookings will be closed by the time you receive it – another to provide me with an email address if you haven’t already).

INFORMATION

CHARGE GENE

I had been asked to include more information on the ‘CHARGE’ gene in this issue. I am lucky that I can reproduce below part of an article from the Spring

DNA is organized into genes; genes are organized on chromosomes: Everyone has two copies of each chromosome, thus two copies of CHD7. If one gene is missing (deleted) less protein is made. As you can imagine, a big deletion involving many genes may have more of an effect than a small deletion involving only one gene. A deletion of a whole gene, or just a small part of a gene, can cause problems. Chromosomes are big enough they can be seen with a microscope and analysed (the study of chromosomes is called cytogenetics). A chromosome deletion found through standard cytogenetic analysis is a deletion of a large amount of DNA involving many genes. Smaller deletions (micro deletions) are hard to detect. Even smaller changes (mutations) in the DNA sequence can still have big effects: Changes in a single base can cause a non-functional protein. Single base mutations can be detected by sequencing – a longer, harder process that involves determining the exact sequence of base pairs for the entire gene, thousands of bases long! In other words, the smaller the change in the DNA, the harder it is to detect. DNA testing can identify changes that can lead to genetic syndromes, like CHARGE.

A small percentage of people with CHARGE tested have deletions involving the CHD7 gene. Large deletions can be detected by a type of testing called genomic microassay analysis. A much larger percentage has small mutations in CHD7. These mutations can be detected by gene sequencing. Some people with CHARGE clinically will not have a small mutation or deletion in CHD7. This does not mean they do not have CHARGE; it means there is another cause; probably another gene which can cause CHARGE which has not been identified yet. Gene sequencing is the best type of testing for CHARGE, as most people have small mutations, not deletions. So far, it appears that around half of all people with CHARGE have mutations in the CHD7 gene identifiable by gene sequencing.

NOTE

Dr Conny van Ravenswaaij has very recently indicated that with the tightening of their testing (including revisiting tested samples) her group are now obtaining in positive results at the level of 75%.

RESEARCH/ARTICLES

Set out below are links to many articles that maybe of interest to you. The majority of these I have taken from other people providing them therefore the subject matter is fairly arbitrary. Please let me know of any article/information or support groups that are of use to you (see below CICS) and would be of use to others.

In January the American Journal of Medical Genetics devoted an entire issue to CHARGE Syndrome. There are about 17 articles ranging from parental perspectives to research articles. These articles can still be accessed from the CHARGE Syndrome Foundation website at

http://www.chargesyndrome.org/links_to_american_journal_of_med.htm

PLEASE NOTE you will have to play with the following icons HTML/Save Article/Abstract ……..etc to access them.

These articles include:

Adaptive behavior in children with CHARGE syndrome - Nancy Salem-Hartshorne, Susan Jacob

An epidemiological analysis of CHARGE syndrome: Preliminary results from a Canadian study - Karina A. Issekutz, John M. Graham Jr, Chitra Prasad, Isabel M. Smith, Kim D. Blake

Autistic-like behavior in CHARGE syndrome - Timothy S. Hartshorne, Tina L. Grialou, Kellie R. Parker

Behavioral features of CHARGE syndrome (Hall-Hittner syndrome) comparison with Down syndrome, Prader-Willi syndrome, and Williams syndrome - John M. Graham Jr, Beth Rosner, Elisabeth Dykens, Jeannie Visootsak

Behavior in CHARGE syndrome: Introduction to the special topic - Timothy S. Hartshorne, Margaret A. Hefner, Sandra L.H. Davenport

Behavioral profiles and symptoms of autism in CHARGE syndrome- Preliminary Canadian epidemiological data - Isabel M. Smith, Shana L. Nichols, Karina Issekutz, Kim Blake

Can specific deficits in executive functioning explain the behavioral characteristics of CHARGE syndrome: A case study - Jude Nicholas

CHARGE association in Sweden: Malformations and functional deficits - Kerstin Strömland, Lotta Sjögreen, Maria Johansson, Britt-Marie Ekman Joelsson, Marilyn Miller, Susanna Danielsson, Eva Billstedt, Christopher Gillberg, Catharina Jacobsson, Jan Andersson Norinder, Gösta Granström

CHARGE syndrome “behaviors”: Challenges or adaptations? - David Brown

CHARGE syndrome: Developmental and behavioral data - Jacques Souriau, Manuel Gimenes, Corinne Blouin, Isabelle Benbrik, Eric Benbrik, Arlette Churakowskyi, Bruno Churakowskyi – This is based on the questionnaire completed for the CAUSE conference

Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association - Cammon B. Arrington, Brett C. Cowley, Daniel R. Nightingale, Holly Zhou, Arthur R. Brothman, David H. Viskochil

Reducing challenging behaviors and fostering efficient learning of children with CHARGE syndrome - Jan P.M. van Dijk, Arno de Kort

Scoliosis in CHARGE: A prospective survey and two case reports - Crystal Doyle, Kim Blake

Speculations on the pathogenesis of CHARGE syndrome - Marc S. Williams

Updated diagnostic criteria for CHARGE syndrome: A proposal - Alain Verloes

The CHARGE Syndrome Foundation also has a number of hard copies of the Journal available at $20. They can be contacted at (Marion Norbury) marion@chargesyndrome.org or CHARGE Syndrome Foundation Inc, 409 Vandiver Dr. Suite 5-104, Columbia, MO 65202.

If you are interested in individual articles please contact me, however and I can email them to you – (borrow an email address if you don’t have one)

In Deaf-Blind Perspectives to be found at http://www.tr.wou.edu/tr/dbp/ there are 2 articles of interest. These will be found in the archives section – January 2005 an article by Dr George Williams and Tim Hartshone on ‘Understanding balance problems in children with CHARGE Syndrome’

(http://www.tr.wou.edu/tr/dbp/jan2005.htm - charge).

The second is in the September 2004 edition by Sharon Barrey Grassick on ‘Learning from Children who are deafblind “Throw away the toys”’ (http://www.tr.wou.edu/tr/dbp/sep2004.htm#learning).

An article on 5 senses and communication prepared by Sandra Davenport. The essence of this is Communicate, Communicate, and Communicate!

http://www.dbproject.mn.org/fivesenses.htm

On Moon print for children with visual impairment

http://members.optusnet.com.au/~terryk/moon.htm

http://www.aboutkidshealth.ca/

This link relates to an article on executive function - Executive function refers to the overall tasks of the frontal lobe of the brain, such as planning, judgment, initiation, self-regulation, decision-making etc. Basically the boss of the brain. (Thanks Kim) or -Executive functions are the abilities needed to control and to regulate organized behaviour. They coordinate the execution of cognitive abilities such as attention and memory. (Thanks Tim).

This is more important than we imagine with our children and can offer some explanation to the difficulties our children may have for which there is no obvious explanation. NOTE - I have been having difficulties accessing this in the last couple of days. See also the article in American Journal of Medical Genetics.

Another article on genetics

http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=550653Others

On cued speech

http://www.cuedspeech.com/

http://www.cuedspeech.org/http://web7.mit.edu/CuedSpeech/
http://www.cuedspeech.co.uk/

http://www.uri.edu/comm_service/cued_speech/

http://deafness.about.com/od/cuedspeech/
http://www.zak.co.il/deaf-info/old/cued_speech.html

http://www.deaflinx.com/cue.html

Canadian Pediatric Surveillance Program - CHARGE Syndrome

http://www.cps.ca/english/CPSP/Studies/CHARGE.htm
This is Dr. Kim Blake's research project, lots of good info and links, especially the section "CHARGE Syndrome -Looking Ahead"

On Line Mendelian inheritance in Man

http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=214800
this is the CHARGE Syndrome entry. This is detailed and written for medical professionals, not parents.

http://www.orpha.net/static/GB/charge_association.html or
http://www.orpha.net/consor/cgibin/OC_Exp.php?Lng=GB&Expert=138orpha.net/a short medical summary of charge by Dr. Blake (written Nov 2004 so up to date) written for professionals

Timothy Hartshorne's web site which has links to a personal account and
articles he has written about CHARGE.

http://www.chsbs.cmich.edu/timothy_hartshorne//

Here’s a scary one!

http://scholar.google.com/ type CHARGE into the search box and just see how many entries there are! I tried this and fortuitously came up with an answer to a question Flo had raised the night before.

Research

Balance – if anybody wishes to take part in a balance study please contact me and I can forward your details to receive a questionnaire. This project is taking place in the States.

With thanks to Lisa Weir, Kyna Byerly, Ann Gloyn, Tim Hartshone, Betsy McGinnity and apologies to anybody I have omitted. CHARGE Accounts periodically includes a list of articles/papers that have been published.

The following article has been reproduced from the May 2004 newsletter from CICS (Cochlear Implanted Children’s Support Group) including the italicised commentary before and after. Many thanks for the permission. Apart from being a story from the heart the reason for its inclusion here is to highlight the need for us to look at our children as a whole and try to not to become distracted by one issue. With the many needs and problems of a child with CHARGE this is very easy to forget. Equally this point is just as important for professionals as parents, unfortunately it is all too common that it is down to us to remind them.

The first of our articles is a very sensitive, moving and sensible account of circumstances that many parents of implanted children would probably regard as their worst nightmare. Frances Concannon writes about their decision not to re-implant their son, William following an infection that necessitated the removal of his first implant:

WILLIAM'S STORY

'What follows may prove uncomfortable reading. I have not written it seeking sympathy, neither have I written it to worry parents considering an implant, nor to criticise any of the medical and professional teams that have been so supportive over the last five years. I have no "deafness" agenda. All I ask is that with children like William, where deafness is just one of a complex web of issues, we do not lose sight of what best serves the child as a whole.

When a child is born every family sets out on a journey. When that child is disabled the road they travel is far from smooth. We started our journey with our first son, William, in March 1999. Within a few days it was clear that things were not exactly as they should be. We were fortunate to have an understanding and trusting team of GPs and health visitors who never once questioned our concerns or observations, and over the following months helped us through the rounds of tests and referrals. William was diagnosed as profoundly deaf, but there was more. He was slow to achieve the landmarks that most babies do; slow to lift his head, slow to sit and walk. Without boring you with the history of scans, tests and consultations, by the age of 18 months William was diagnosed with CHARGE Syndrome.

In many ways it was good to have a name to put to William's problems and at last we knew where the boundaries lay. Whilst the diagnosis identified a number of problems, we became absorbed by his hearing loss. We started to sign with him from early on and began investigating the possibility of an

implant. After the usual assessment process and some pauses for other minor operations, the team at Guys & St Thomas undertook the surgery in April 2002. We were no strangers to hospitals and surgery - in his three short years William had been anaesthetised at least seven times.

After switch on William made slow progress, everyone taking hope from his happiness to wear his headset all day from the very beginning. Six months on and after a change in mapping strategy he made a step forward and started to turn to claps - a revelation to us. He no longer needed to be within waving, touching or stamping distance in order to get his attention. In April 2003, just as we started to see a brighter future for William, it all stopped. What started as a slightly prominent implant site became a patch of red skin, and a cause for concern to the surgeon. This in turn became emergency surgery to reposition the package and ended in the discovery of a large infection necessitating the removal of the implant. The hospital had no hesitation in offering re-implantation on the other side.

Sitting with William in the recovery room at the hospital the questions started spinning around my head. As the next few days and weeks passed more questions kept coming. Could we put William through this again? What if a second implant failed or the infection recurred? What if he made better use of a second implant and then it failed and we had to take away this gift of sound? If we did re-implant what kind of life would we let him lead, worried that the slightest knock could cause damage? These are all the kinds of questions asked the first time around, but this time we knew that he had made slow and limited progress with the first implant and the question "How much benefit would William really get from an implant?" became central.

Thank goodness for my husband; a kind and loving man who nonetheless has the ability and strength not to let raw emotion cloud his judgement. He said "Don't try and make a decision; identify the questions we need answering, answer them and then the decision will have made itself." He was right.

With the help of the hospital team we spent time looking more closely at CHARGE Syndrome and the success of implants for children like William. Very little data exists, however what soon became clear was that the children we had heard of remained reliant on signing; implants gave them environmental cues, which are of course, helpful but they remained signers. Whilst the hospital put the infection down to nothing more than bad luck, we never stopped wondering whether there was something about William that made him more susceptible to it, and we were not about to try again with an implant just to disprove that hunch.

The more we thought about it the more we realised that William was not just a deaf child. His CHARGE Syndrome, the way his brain and body worked was at the heart of this issue. We needed to look at William as a whole, not just at his deafness. We had been so focussed on helping to give him some hearing that we had tended to ignore other issues like his general but significant developmental delays. We had come to understand that these had a greater impact on his ability to adapt to and process what the implant was giving him than we had previously realised.

By this time we were anticipating William's move from nursery to school and were determined that it should be as smooth as possible for him. Without an implant we had a stable, immovable baseline for everyone involved in his care to start with. Whilst we will never regret our initial decision to have an implant, with hindsight we realise it had been a huge distraction for everyone around him. Although we had continued signing with him, we had been pinning too much hope on the chance of him becoming oral. Without even realising it, we had stopped pushing ourselves to expand our own and his signing vocabulary - we were treading water. At times, family and friends seemed to forget he was deaf; it was as if by seeing him with the implant they thought it was just a matter of time before he would be talking like any hearing child.

The discovery of the infection really made us stop and reassess William's situation in a way I think we might never otherwise have done, and by doing so we reached a greater understanding of our child and his situation. In the past we used to say William was a deaf child who just happened to have CHARGE Syndrome. Now we say William has CHARGE Syndrome, which includes being profoundly deaf.

I will never forget my journey home from London after telling the hospital team that we would not be opting for another implant. I sat waiting for a feeling of sadness and panic to overwhelm me; instead I was enveloped by a wave of relief and determination to do all I could for William as he is now.

It may appear to some that we gave up on the implant too soon. We should have tried again for William's sake. In truth, we were given the opportunity to stop and look closely at William as a four and a half year old. We were able to look

back and realise how much more we understood about him, his abilities and our expectations than we had two years before.

A year on from the removal surgery William has settled well into a mainstream school with a unit. He has signed support all the time and is making slow but steady progress. At home we are all happily signing, including his 18 month old brother, and continue to feel that we have made the right decision for William. The path may have changed direction, but our journey with William continues."

William is indeed fortunate to have parents who have really considered all his needs, and Frances' article is a clear reminder that parents must look beyond a child's deafness and see the whole child.

CICS Details:

Southern Region: 4 Ranelagh Ave, London SW13 0BY (tel: 020 8876 8605)

Midlands Region: 32 Grovesnor Street, Derby DE24 8AU (tel: 01332 365528)

Northern Region: Apple Tree House, 6 Westfield Drive, Appleton, Roebuck, N Yorks YO23 7EG (tel: 01904 744639)

PEN PORTRAITS

Jacob Wallace

I would like to tell you about our grandson, Jacob, who is now 10 years old. Jacob was born with coloboma, choanal atresia, characteristic ear anomalies, cranial nerve dysfunction (facial palsy, vestibular dysfunction and swallowing difficulties), heart defect, orofacial cleft, genital hypoplasia, growth deficiency, developmental delay and a distinctive facial appearance.

His first two years, were spent in and out of hospital with breathing difficulties and infections.

When he was 2, his consultant was returning to Australia, which meant that a replacement would need to go through all his medical records for the past two years. This seemed unproductive to his parents, bearing in mind that at this stage there had been no diagnosis as to what was the cause of Jacob’s problems.

His father decided he would apply to have him seen at Great Ormond Street Hospital. On his very first appointment there, he learnt that Jacob had Charge Syndrome. For the first time, they were able to put a name to Jacob’s problems.

At 2 years old Jacob could only sit or lay on the floor. Television was his only entertainment. This improved very gradually, but no real change in him until he started at a special school at the age of 5. This opened up a whole new world for him. He actually walked unaided for the first time when he was six years old.

The school have done a wonderful job with him. He loves going every day. In fact on a Sunday evening, with no prompting he gets out his school bag and places it near the front door, so that he is ready for Monday morning. He speaks all the time now albeit not always understood by the untrained ear such as myself and my husband, but some of what he says is extremely clear. He can now count to 100 forward and backwards; he draws pictures well, understands most things and can remember things from the past that we have long forgotten. He loves going to the swimming pool, runs and plays football. He also gets great pleasure from his Playstation and knows how to play computer games.

As grandparents, my husband and I love him very much and he shows great affection to us, getting very excited when we visit.

He has an elder brother Luke 12 and a younger brother Joseph 4. They have, we feel helped enormously in Jacobs development. Luke is very caring and protective, always helping his brother by including him in his own games.

We recently watched a video of Jacob at the age of 5, walking with a frame and joining in the Christmas school play, using sign language in time to the music. Now five years later he is a different child. Despite his problems he enjoys life and has a far greater understanding of most things, far more than it was ever thought possible. His academic success to date is gradual but improving all the time.

Who knows what he will do to surprise us all in the future?

Bill & Muriel Wallace

FUNDRAISING

Just a brief note. Carol Thomas before Christmas held her annual fundraising event. This raised about £500. This money is being to fund the video from the ‘Shape of things to come’ weekend. In this context Yvonne Arnold requested Sense to utilise money she raised to support this weekend –thanks.

The Masons in the Worcester and Midlands area have so far raised nearly £700 for Jordy’s (Butler) Appeal. It is anticipated that more money will be raised. (Helen Butler wrote about Jordy in an earlier newsletter that Sense also republished)

A work colleague of Sarah Parker has also raised funds for the group – unfortunately I do not have the amount.

Sponsor forms

If anyone is looking to raise funds for the CFSG Carol has sponsor forms available.

FEEDBACK

As ever please give me any comments – positive or negative - about the newsletter. I can only improve it if you give me feedback.

EMAIL ADDRESSES

Recently I have spoken to a number of parents and email addresses have been volunteered. Please be pro active it does take a lot time to put together the printed version. I am sure you all appreciate time is something Flo and I do not have much of.