CHARGE CONFERENCE 2006-Reflections

By Heather Flynn (parent of Hannah) And Karen Skews (Hannah's Integration Aid)

We as humans are learning everyday for the rest of our lives Adele Farhart, Families in CHARGE Newsletter, Spring 2006

How true Adele's quote is, and what an incredible range of resources we have at our disposal to utilise. Like Angela Begas, (Conference 2006 Reports from Families in CHARGE newsletter, Spring 2006 edition), David Brown's presentation at the 2002 conference in Sydney had me captivated; in a sense he ignited within me a whole new perspective to looking at learning, both as a parent and as a primary school teacher. So, when the chance came up to have a 1:1 clinic with David at the 2006 conference regarding my daughter Hannah, it was too good an opportunity to miss. (It was in fact a 1:2 discussion with David, as our family is incredibly fortunate to have Hannah's integration aide Karen attend the conference with us.) Among other things, we were able to show David photos of Hannah working at school. Instantly he picked up on her poor posture and was able to recommend ways we could improve it. Within two weeks of being back at school, the tilt board was introduced and a dramatic improvement in Hannah's posture and motivation was noted.

At school Hannah had also seemed unsettled when sitting for long periods on the floor with the other children, (as many children do!), often trying to lean on them and becoming quite agitated. David suggested introducing a small fold up chair in which Hannah had support for her legs, arms and back. Again this had an immediate impact, with Hannah sitting for as long as required, being more focused and much more relaxed, in the classroom, at school assemblies and at cultural performances in the local theatre - "Have chair, will travel" In a sense these were simple and very achievable suggestions, that have had a positive and immediate impact on Hannah's learning experiences.

As a parent with a teaching background, I had always been aware that we were "very lucky" with Hannah's educational progress so far. The attitudes, openness, support and dedication of the people working with Hannah has been amazing and incredibly consistent. It has been, and still is thankfully, very much a TEAM approach from teachers, integration aides, principals, speech therapists, occupational therapists, students and family members. Included in the broad range of people are also the shopkeepers and workers who when Hannah goes on her weekly shopping trip with an aide have learnt the basic signs which Hannah uses, even the local school bus driver is learning to sign, which greatly assists Hannah in her communication with others. All of this became even more evident when participating in the break out session on School Environments and CHARGE. The following snippet from Karen's experience perhaps highlights what can happen - granted it is possibly unique, but not impossible.

The full time integration of Hannah at her local school was made even more successful after attending the CHARGE Conference in 2006. I have worked with Hannah since she commenced kindergarten. Her first two years at school was shared between a Specialist School (80kms away) and her local Primary School. (Prep Year 4 days/1, Year one - 3 days/2). This has been an amazing experience, being able to attend the Specialist school once a term, observe and interact with Hannah, and more importantly learn from the specialist staff. They were extremely co-operative and even came to observe Hannah working with me at her local school. It has been this constant collaboration between the two schools that ensured a successful full time transition to the local Primary School last year. The support of all the teachers, aides, and principal at the local primary school has also proved invaluable as all assist in any way possible.

(We, Hannah's integration aides and family members, are also fortunate enough to be able to continue this relationship with the Specialist school by visiting our friends there at least once each year.)

Having our minds and bodies "re-charged" after our visit to the Queensland conference, led us to have an Occupational Therapy Assessment focusing on the senses, done on Hannah when we returned home. Our 2007 school year has begun with increased awareness of Hannah's sensory processing needs, and activities to cater for these are continually being added to the curriculum, (not only for her benefit, but also in some cases for other individuals, as well as whole classes.) Again an example of "our" willingness in the wider context to "keep on learning."

Hannah's education journey so far has linked many people together and again, we (her parents), count ourselves as the lucky ones, because they are all working towards common goals - to give Hannah the best possible chance to fulfil her capabilities, to experience success and to be happy.

Thank you to everyone who organised, attended and participated in the 2006 conference, we eagerly await 2008.

Patrick's Story

This story is about Patrick Egan, a 22 year old man with CHARGE syndrome. It is written by his parents, Tim and Dolly Egan, who just recently made contact with the Association and have become members. Prior to this, Tim and Dolly were unaware of our support group, or had access to any information on CHARGE or met other families.

The excitement was mounting, the renovations were almost complete, the new nursery was looking fantastic with the safe pale lemon walls and cute wallpaper with little bush critters on the feature wall. The cot was new, the bassinette was new, the pram was new, the chest of drawers was new, the carpet was new so all we needed was the new baby. After seven years of marriage we were finally expecting our first child, the day was drawing near and yes the excitement was mounting.

[Background] Dolly is a trained Mothercraft Nurse, completed her training at the Queen Elizabeth Hospital for Mothers and Babies. She nursed mothers having problems adapting to their new charges, she nursed mothers with problem children, she nursed unwanted children and she nursed disabled children. The latter often given up as State Wards however she loved all her little dependants equally. She then worked in a hospital crèche specifically looking after staff children. I was a plumber working in the Construction Industry. Dolly and I had completed the renovations ourselves and it was a true labour of love.

Together we gave up smoking prior to getting pregnant and we didn't drink much alcohol during the pregnancy, we attended all the prenatal classes, we had everything in place, we were under control so nothing could possibly go wrong.

Dolly left work when it was no longer feasible to continue, the day was drawing closer, she stood straight with a massive belly out front you could crack a flea on, not carrying an extra ounce of weight, feeling very awkward and restless as it was a particularly hot summer however she looked radiant.

The hospital bag was next to the door and it was snatched up, tossed into the car and we were away. Yes the contractions had been ongoing through the night and Dolly decided they were close enough apart to make the dash to the hospital.

We arrived, got settled in, the contractions backed off and we were promptly sent home. A week later it was on for real and after a very long nineteen hour labour and a very horrendous and panicked forceps delivery Patrick was born. It was a heart stopping experience as you could tell from the panic of the staff that this was not a textbook birth and we almost lost Dolly. She was very weak with massive blood loss however nothing could stop her from holding her beautiful baby boy.

No one said anything up front but you could tell by the change of mood, the lack of eye contact and the general officiousness that something was amiss. We just ogled and immediately fell in love with our beautiful baby boy who was certainly vocal as he cried incessantly. Dolly was moved to the post maternity ward, it was Easter Sunday (7 April 1985) and we had the best Easter egg you could have possibly wanted. Patrick continued to cry and he cried continuously for three days. This was attributed the horrible head distorting forceps delivery.

Dolly told me straight away she knew that Patrick was different to other children, that he was going to have his challenges but we were over the moon as he was so cute with a copious head of dark hair. Patrick had these strange upside down teardrop shaped eyes and a chubby cheeky face. He was sooo cute.

A very insensitive doctor with no bedside manner announced bluntly that Patrick was challenged, would be retarded, would be blind, would never talk and would never amount to much at all. With that he turned on his heels and walked out never to be seen again. We were speechless, we were in a ward surrounded by mothers cooing and goo-ing and gaa-ing over their perfect little specimens, the other mothers felt awkward about Patrick so there wasn't much interaction and it was all too much for us to take so Dolly insisted on being discharged immediately.

This was our first peek into the cruel isolation and insensitivity that was to become a recurring norm for us as a family with a disabled child. After a couple of days, as follow up appointments were made for the Royal Children's Hospital, we were now at home with our dear little boy. Patrick settled in at home really well and the adventure was only just beginning. We attended many clinics at the RCH. Patrick had surgery for undescended testes and hernia repairs.

Patrick also suffered terribly from chronic reflux. At about 14 weeks in the early hours of the morning we found Patrick in his bassinet not breathing and blue in the face. We immediately applied mouth to mouth resuscitation and on getting him breathing again we raced him into the RCH. He stayed in the hospital for 2-3 days and was discharged after many tests. The doctors' findings were "had we not found him when we did he would have been deemed a cot death (SIDS)".

This news made us mega vigilant while he was sleeping. It was not until June 16 1986 that Patrick's medical condition was diagnosed as C.H.A.R.G.E. Association. This was confirmed by Dr. Jim McGill (Fellow in Clinical Genetics) after a consultation at the RCH Genetics clinic. Quote McGill 16/6/86 "Patrick has the colobomata of his eyes, retarded development, required an operation for undescended testes which is a genital abnormality and has unusual ears with the left ear being small and lower on the side of the head than we normally see". He further advised to his knowledge Patrick was only one of six in Australia to be diagnosed with CHARGE and there was little known about it.

Patrick was like a little rag doll, really floppy with absolutely no muscle tone at all however a happier baby you would not find anywhere. He developed really slowly, we were really concerned and we were sick and tired of family saying "he's all right, he'll be fine". What was wrong with them, we had accepted that Patrick was challenged, why did they keep their collective heads in the proverbial bucket of sand, why must they continually patronize and not accept the facts as they were? All we wanted was a bit of support and a shoulder to lean on. It was difficult enough.

That was it, Patrick had been categorised, and there was no more the RCH could do but monitor his development and especially his eyes as they advised there was a chance of Retinal Detachment.

The next hurdle was when Patrick started to have Epileptic fits which were 'Grand Mal' and very scary for the uninitiated. We called the ambulance for the first few fits however we gained an understanding and managed them ourselves therein. He uttered his first word at around thirty six months which was to Dolly's dismay "Dad" (after all she was doing all the work). Patrick's sister Clare was born on Sept 17 1988, she was a difficult birth as well and we almost lost Dolly through loss of blood and exhaustion. After being raced into surgery to save her and then some time getting back on her feet Dolly had two babies, one on each hip. Patrick was forty two months old and just walking. Prior to walking he specialised in shimmying around with a froglike motion. Although he was walking he was very doddery. We must emphasize he was always a really happy child.

Patrick's condition wasn't heard of by most of the professionals we were in contact with over the years whether they be Medical, Educational or even Special Ed.

Dolly put Patrick on the toilet about a million times a day (day after day for years) until he finally took it to task and managed to be toilet trained. Clare was a big help to Patrick's development as he would get jealous of her achievements and strive to emulate her achievements. Patrick ceased having fits around the age of 12 years old and Dolly very slowly weaned him off his Tegretol medication which immediately showed positive results in his happiness and general demeanour. Over the years Patrick attended Biala Dandenong, Frankston Special Developmental School, Port Pirie Special School, Brunswick Special Developmental School and now he attends and is very happy at Milparinka Adult Training Centre. These Special Education Schools have had some fantastic, dedicated people working with Patrick and they have helped him reach his potential. He is 22 years old, has the mental capacity of a 2-3 year old and is still an outpatient at the RCH Ophthalmic clinic. One of Patrick's major achievements and a very happy day for us was when a team at the RCH working with pictograms managed to prescribe Glasses for him. He would not give sufficient input until this particular visit. This was only eighteen months ago and we thought 'bloody hell' how are we going to get him to wear these. He was fitted at the opticians and has not looked back. The glasses made such an impact to his short sightedness that he adopted them immediately. His first words when woken the very next morning were 'glasses on' and we cried with happiness for him.

We have achieved heaps with Patrick, we take him everywhere with us, we are a family and he is very much part of it. Patrick is deemed 'legally blind' although he has very useful vision, is reliant on us to bathe, dress and toilet him (the hygiene), is very slow and at times doddery, is very much a creature of habit, still has his food mashed as he hasn't properly learnt to chew and is verbally very repetitive as you would expect from a 2-3 year old. We have endured the gaping, gawping insensitive public and we have done it alone. We have lost friendships and to some extent become reclusive and we have done it alone. We have put up with the family's unwanted opinion (advice they called it), not offers of help but what they would do if they were in our shoes so we did it alone. We are not bitter but proud of our beautiful, happy, challenged boy who loves nothing more than a big hug and cuddle from his Mum, Dad and Clare and yes we have done it alone. And guess what, Patrick will tell you himself, he has a "great sense of humour" and this keeps us going.

Cameron's Cochlear Implant

To do or not to do? That is the question

I often feel that it was easier when Cameron was a baby. Decisions, re medical interventions, were generally for life and death situations - had to be done, and often made by the professionals involved.

Then when Cameron was about 3 years old, we heard about cochlear implants and began the process of assessing his eligibility for receiving one. This wasn't one of those life and death situations where it had to be done. Lots of people are deaf, accept it, and get on with life. There was/still is fierce debate between hearing and Deaf people over this type of intervention.

However, we were living the frustration of language difficulties. We went to sign language classes (when they were available), right from Cameron's birth. Cameron signed well. But having some hearing had to be an advantage - even if just to give an awareness of environmental sounds for safety. Of course, we hoped that the implant would give more. We were told the risks. We were told that there were no guarantees that it would work. I felt, back then, that the professionals working with Cameron (Deaf Advisors, Teacher of the Deaf [TOD] etc) were very supportive of our decision to go ahead. It's strange but back then, I had hoped that the surgeon would say Cameron wasn't a candidate because that would have stopped my agonising over whether we were doing the right thing.

The surgeon, thankfully, had the foresight to read up on CHARGE syndrome and found out that the facial nerve may not be where it should be - and it wasn't. There was potential for Cameron to have ended up with a facial palsy. This is a common feature in CHARGE anyway, but one he didn't have. Surgery was longer than anticipated. Switch on and initial mapping were not without problems. Facial nerve stimulation was an ongoing problem necessitating the switching off of a number of electrodes over the next 10 years. Eventually, only 7 of a possible 22 electrodes remained activated. When Cameron was first implanted, we were told that anything less than 10 electrodes working was useless. And that there would never be a Behind the Ear Processor that would be powerful enough to use with Cameron's implant because of the current need for Cameron to pick up sound. Technology gets better and eight years later, Cameron received his BTE processor.

This first implant only really gave Cameron an awareness of sound. He could produce SOME recognisable words, learnt to lipread well but was still sign reliant. His Speech Language Therapist gave up trying to get him to produce speech. Discriminating between two spoken words was very poor.

Cameron constantly questioned why was he born Deaf, it frustrated the hell out of him when people talked and he didn't understand what was being said. He wanted to hear.

It was mooted, in the 9th year, of the possibility of reimplanting Cameron sometime in the future. The situation was monitored and by the 10th year post implant, what little hearing Cameron had was declining. The implant could not be mapped or tweaked any further.

We had decisions to make. This was another one of those non life or death situations. Did we want to put Cameron through surgery again with no promises that the new implant would give any more sound? I didn't feel supported by his TOD or Deaf Advisor this time. Yes, they had good points to make, 'He has done really well with what little hearing he has,'' 'He could lose what little hearing he has', 'Cameron will need a say in this'. In reality, it was ours and Cameron's decision, and their job was to support whatever decision we made. I researched the net, I contacted parents of others who'd been implanted.

The bottom line was Cameron wanted to hear more. Yes, I beat myself up - as we do as parents. Was I making the right choice? Would he hate me for putting him through surgery? What if it didn't work? In the end, parents do what they feel is right for their child - with the best intents and best possible information available at the time.

The reimplantation took place on Thursday March 29 2007. Surgery went well- faster than the first time - and a full insertion of electrodes. Cameron went back to school on the MONDAY! Not my choice but he was bouncing off the walls at home. I sent a message to his Teacher Aide mid morning to see how he was and she said, 'He's a bit tired, bit sore but it's his turn in the front seat of the taxi this week, and he's not coming home!'

Switch on was 2 weeks later. I should've listened very carefully to the Audiologist when he said 'Cameron may not hear the first few sounds.', because those non responses to the first few sounds made me gulp, think the worse and start to feel guilty for what we'd done. A few sounds later, at a different frequency, and Cameron was away. Phew! Twenty of the possible 22 electrodes are switched on. The other two were causing some facial stimulation. At Rehab later, Cameron was discriminating between 1 and 2 syllable words. He wasn't even doing this towards the end of the first implants days! We went for a bus ride into town later and Cameron heard the bus door 'whoosh' as it shut and asked what the sound was.

Day 2 of switch on and Neil, the Audiologist, began fine tuning and altering levels. Suddenly, the lights in the room went out and the computer died. Seems a communication breakdown within the power companies had failed to notify the Implant Centre of a 6 hour power shutdown! After explaining the situation to the 'powers that be', agreement was reached that the power would be reinstated for 30 minutes to allow mapping to be completed. When Neil switched the implant to live, Cameron yelled 'STOP! LOUD!' And gestured that he could hear himself breathing - a first! Don't we take things for granted.

A lot of people thought that with 20 electrodes on, Cameron could hear really well now. 'So he can hear what we're saying?' 'So he can hear 3 times better now?' You know - instantly thinking he does not needing sign anymore. Yes, he can hear sound and the potential is there to understand speech. However, it's not a miracle cure. Parts of his ear have never been stimulated before. Everything sounds different to what he's heard before. He has to make sense of everything he's hearing. It's a long road of rehabilitation and a commitment to do this 6 days a week. Cameron's Dad and I are lucky to have understanding bosses because the operation and subsequent rehab require a lot of time off work in a short space of time.

Cameron's sense of humour is great. Donna, the CI Habilitationist (and NZ Director), was composing a list of common phrases for Cameron to practise. Cameron added one of his own - 'calm down.' It's one of his favourite signs he uses with me when I'm not pleased with him.

Some Professionals reckon that if a child can't use a telephone post implant then it hasn't been a success. But I got immense pleasure out of the fact Cameron heard himself breathe for the first time in 14 years!

Tricia Gillbanks

Greetings from Manila

A warm hello to all from a very warm Manila! Yes, it is the hottest summer we've had having temperatures up to 38?C and also very humid.

But as the heat rises, so does our marvels with our little CHARGER Giuliana. From where we left off (conference in Sunshine Coast last year), Iana has gone through so much. In November, her CT scan reveals that aside from having incomplete inner ear structure, she also had unilateral choanal atresia. This was the reason why her feeding is poor because she can breathe only through her left nostril. Fortunately, the closure of the right nostril is membranous only and so she had an operation to repair this last January. The surgery was successful and she recovered well, though having a plastic tube for 6 weeks to keep the nostril open. There was a dramatic improvement in feeding and in no time, she gained weight immediately.

However by some stroke of faith, just two weeks after removing the plastic tube, Iana showed the same symptoms as when her nostril was closed. True enough, the doctor found out after scoping that, the newly repaired nostril's hole is closing up again! She was scheduled for another surgery in April but was postponed in May, as she was hospitalised for a week due to pneumonia.

One week before her 2nd surgery and during a routine check-up with the ENT, a miracle happened. The doctor was astounded to see that the closed nostril is now open! The doctor was in disbelief as this is as she said, very unlikely to happen. Miracle or no miracle, we are very happy and thankful for it.

Iana turned one May and she is doing very well. She was declared no longer a cardiac patient since December 2006, eyesight improved from 700?800 grades to 300?450 grades and kidneys and urinary tract normal. Physically, she has improved tremendously as well due to her regular PT and OT sessions. Our biggest challenge remains her hearing. But we are very patient. We'll have her tested again to see if she still needs hearing aids or proceed to schedule her cochlear implant.

We hope to see you all again at the 2008 conference.

Best Regards, George and Michee Cadhit

2008 update: Her grades went down from 350/500 to 150/300...truly amazing! Since we started her speech therapy in Sept'07, she has shown interest and makes effort to talk. She's been opening her mouth trying to imitate ours and can already produce very faint sound. This is again a milestone! Giuliana has been doing progress slowly but constantly.

My Brother - Robbie Mandeville

By Laura Mandeville

This is Laura's speech which she read at the closing of the 2006 Queensland Conference.

Today I am going to talk to you about my experience of having a sibling with CHARGE. I would like to start by saying that this is the way life has been for me, but I understand that for each and every sibling the experience will be different, as that is how life is.

When people hear that I have a sibling with a disability they usually offer me condolences saying things like, "Oh, it must be so hard for you, I am so sorry". Although I have at times wondered what it would be like to have a "normal" sibling, I know no different and to be perfectly honest, it hasn't been a difficult experience for me at all. For my parents, I am sure their experience is a whole different kettle of fish, however for me, life has been pretty "normal". Having Robbie as a brother has certainly given me certain experiences that I probably otherwise wouldn't have had. Mum has always said that I had a very exciting childhood, because I spent most of my time at various playgroup centres with Robbie. As a result I can now boast quite a collection of finger paintings.

When I was about 10, my mother decided to enrol Robbie in cub scouts. I remember saying to her, "Can I join too mummy, please!!", so every Tuesday night Robbie and I would get dressed in our matching khaki uniforms and go to scouts. The leaders at scouts were so supportive of Robbie, and each week they would assign a different scout to take care of Robbie for the night, and if I tried to look after Robbie they would rouse on me. The other scouts liked Robbie a lot, and to this day if I ever meet someone from scouts I always have to explain who I am by saying that I am "Robbie's sister".

It is said that every time you laugh, one minute is added to your life. Robbie then, has added years to my life. He has the best sense of humour and certainly can make us laugh, and he knows it too, afterwards he will turn around with a big lopsided grin, and an infectious little chuckle.

Whenever we are out in public, I sometimes feel like I spend a lot of my time saying "sorry" to passers by as Robbie has little sense of personal space, but at the same time I find it quite amusing to watch other people's reactions to Robbie's (to be perfectly honest), strange behaviour. Robbie goes through phases where he becomes obsessed with something. Although his actions can be a tad embarrassing and inappropriate they can also be quite amusing. At one stage he became fascinated by the flabby skin some women have under their arms, and he would go up to strangers and start playing with the skin under their arms. Another time he was obsessed with teddy bears, and I'll tell you, it is not many 19 year old boys who walk around shopping centres hugging a teddy bear that is almost the same size as them. That I tell you, is quite a sight to see. His most recent phase is to take what my fathers' have called a "nap attack" which involves lying down for just enough time to get back up. I think that some Woolies customers have become quite confused by a twitching fully grown boy lying in the middle of the aisle, and have grown even more alarmed by the sight of a young girl, (myself) watching in amusement. It gave me quite a shock the other day, when, stepping into the shower, I looked down to see that the lump under my foot, was indeed my innocently smiling brother, who had chosen the bath tub, as his newest location in which to have a "nap attack". As my family has often observed "life with Robbie is never dull".

He can also be quite annoying and mischievous. Thanks to Robbie I think I have now

mastered the art of showering in the dark, as one of his more annoying obsessions has been turning lights off. However, I have a feeling that most "normal" 19 year old brothers would do much worse things to their 17 year old sisters. I also doubt that many other 19 year old brothers would be as affectionate as Robbie is. He certainly knows how to make me feel loved, whenever I am at home he follows me around grinning happily, quite content to sit and watch me do whatever I am doing. He is never far away.

Another positive thing about having Robbie as a brother has been attending these CHARGE conferences for the past 14 years. This weekend has really made me realise how much I have enjoyed these conferences: getting to know everyone…and more recently as I have become older looking after the children. I have had a fabulous weekend.

I have shared with you today, some anecdotes, of my life with Robbie as a brother. Just as every "normal" sibling relationship is different, every relationship with a disabled sibling is different. I am just grateful that mine has been such a positive one, and it is my parents I have to thank for this. While I know that there have been some pretty tough times for Robbie and the family, my parents have always done their best to shield me from these times, and thus, having Robbie as a sibling really, for me is entirely positive. I can laugh at his jokes, without having to arrange endless doctor's appointments or deal with his really challenging behaviour.

Greetings from the Stocker Family

Greetings from the Stocker Family and Merry Christmas to all fellow CHARGE families.

My name is Annette Stocker and it is my pleasure to let you know that I have accepted the position of South Island Director for the Australasian CHARGE Syndrome Association. We now have two Directors in New Zealand: Tricia Gillbanks in the North and myself in the South. My family consists of four; myself, my husband Tony, our son Matthew aged 8 and Aimee aged two. We live in the garden city of New Zealand-Christchurch. Our daughter Aimee was born with multiple complications on the 11 November 2003. The major problem was the fact that she could not breath and after a week of being hooked up to machines to help her breath she had an operation to insert bilateral stents in her nose. Aimee was diagnosed with CHARGE three weeks after she was born. At the time of diagnosis the doctors got some old books out to show and explain what CHARGE is. I was shocked that there was no up-to-date data available at the hospital. At this time I started Internet surfing and found the Australasian CHARGE Syndrome Association website (www.austcharge.com.au).

Each day we went to the hospital, they seemed to find something else that wasn't quite "normal" with Aimee. It became harder and harder to keep our spirits up and was very draining on the whole family. Without the support of a great family and close circle of friends we would never have coped. Eventually after several operations and 75 days in the neo natal unit they declared us fit to go home, so they thought. During that first year, as with most of you, we lived at the hospital. The problems and sickness never seemed to end. Two years later we have a bright, cheeky, sociable little girl who is progressing better than anyone thought she would. Aimee has all of the five major CHARGE features and some more to boot. The major thing holding Aimee back at present is that she has a tracheostomy tube in her throat for breathing. Hopefully all going well sometime in 2006 it might come out. We are learning New Zealand Sign Language and it has been really neat to have her sign back and show she understands what we are saying to her.

I joined the Australasian CHARGE Syndrome Association so that I could learn as much as possible about CHARGE so our family could help Aimee in every way possible. Tony and I were lucky enough to obtain funding so that we could attend the Australasian CHARGE Conference in 2004. It was our first CHARGE Conference and what an experience! We met people who knew what we were talking about and who understood our concerns and frustrations. We came home exhausted from soaking up all the information yet filled with joy and hope that our little girl could and would be able to achieve anything she wanted.

I hope to be able to give back to an Association that has given us so much information and support since Aimee's birth. Hopefully some of the South Island CHARGE families can meet up early in the New Year.

Oscar Hudson's Story

On 16th January 2004, Oscar came into the world, a little brother for his adoring siblings Connor and Yasmin. This day was to change our lives forever, as this little boy, unknown to him, was to achieve amazing things against all odds.

When I was pregnant with Oscar, our 'routine' scan was to become anything but routine. At 20 weeks Oscar was diagnosed with multiple anomolies; this came as a shock as to how complicated this baby was to be. At this stage he was diagnosed with foetal hydrocephaus (excess fluid on the brain), heart abnormality, bilateral cleft lip (and palate) and a possible tracheo oesophageal fistula (TOF or absent stomach) just to name a few.

This was to be my first glimpse of CHARGE Syndrome. The pregnancy was then a time of grieving, medical appointments, choices and above all, the hope that your unborn baby will be strong enough to survive, and when he did, to then show us how amazing he really is.

Three days after Oscar was born he was diagnosed with a moderate hearing loss, he was fitted with hearing aids at around 12 weeks of age and then we were told he was blind. The possibility of CHARGE as his diagnosis was becoming more evident as I learnt more about this little baby as slowly each health issue surfaced. Oscar has had breathing difficulties, asthma, apnoea (was on c-pap at home) and he has a single kidney with a grade IV reflux, he also had a hernia removed. Finally, CHARGE was diagnosed - what a relief! I felt now we had a direction, and a great support network.

Early intervention was the next biggest step for Oscar and myself. We introduced ourselves to RIDBC (Royal Institute of Deaf and Blind Children, NSW) when Oscar was around 4½ months old. I was instantly relieved to have the support of the team and the therapy that was and still is a valuable asset to Oscar's achievements.

Early Days Play Therapy has helped Oscar to use his functional vision to the best of his abilities, learning basic skills of fixing his gaze on objects, to tracking and following movements, also looking and reaching for familiar objects. Equipment such as tumble form chairs provided Oscar with upright experiences, as he preferred to lay on his back, this also supported his low tone. Melinda (Vision Impairment Early Intervention) visits Oscar once a week and combines her visits with Emma (Hearing Impairment Early Intervention) to work towards a whole approach with Oscar's communication and developmental needs.

Oscar is now 2 years old, and has achieved more than I ever expected in such a short time. He is bright, clever and has an amazingly soft nature; he laughs, smiles and captures the hearts of all he meets. Oscar sat up for the first time at Christmas 2005, within three weeks he had mastered the bottom shuffle, much to his delight.

The most amazing achievements since then, he now walks with a walking frame and quite confidently explores the park, shopping centres and Connor and Yasmin's local school. The other amazing achievement is that he now says 'mum'.

This little boy, which I can proudly say is my 'little man', is going to achieve great things, and will continue to amaze not only myself, his brother, sister and his family, but in doing so he brings much joy, tears and laughter. Well done Oscar, we love you.

Riding for the Disabled

Riding for the Disabled (RDA) is part of an international organisation dedicated to providing people with disabilities the opportunity to participate in horse riding and related activities. RDA also sports the slogan 'Riding Develops Abilities' which I believe is a more apt name for the organisation as horse riding encompasses many benefits for the rider with a disability. By controlling the horse, the rider experiences self confidence and responsibility. The rider learns balance and coordination and benefits from therapeutic muscle stimulation. The aim of the program is to improve poise, posture and flexibility in the rider, with the physical benefits coming naturally. RDA caters for people with a broad range of disabilities, such as: spina bifida, cerebral palsy, muscular dystrophy, down syndrome, vision and hearing impairment, intellectual disabilities, autism.

We knew the benefits of horseriding for children with CHARGE Syndrome, particularly with their balance issues, so we contacted RDA in our state and went on the waiting list. This service is run entirely by volunteers and there are not enough volunteers to cater to the high demand this wonderful resource attracts. You are required to pay an upfront fee of $50 and then $15 per one hour lesson each week you attend. Two years after our initial enquiry, we attended our first lesson. In preparing Sean for this day I signed to him 'horse', 'ride', 'want?'. Nod, nod, nod went his head - that's a yes! We headed down to the RDA site at Officer, about 40 minutes from where we live and were joined by ten other families. The RDA officers, who are all very experienced riders and horse handlers, fit each rider with helmets and boots. When it came time to fit Sean's helmet, shake, shake, shake went his head. Uh-oh, I thought - that's a no!

Our group headed over to a paddock to collect three horses to bring back to the riding arena. Fortunately (for me) there were three parents in our group who are experienced horse handlers, so one parent lead a horse, while two or three children 'helped'. Sean stood in a ditch by the side of the track, not responding to the requests of, 'Who wants to lead Mickey?', 'Who wants to lead Ginger?' 'Who wants to lead Lucy?' As the last horse was lead away, Sean and I brought up the rear, and as we slowly followed the group up the dirt track, I signed to Sean 'lucky' 'boy' 'ride' 'horse' 'want?' Nod, nod, nod went the head - hmmm.

Everybody was given a brush and we stroked, brushed, scratched, rubbed all the horses in a 'meet and greet' session. Sean seemed to be very interested in his horse - a pony called Mickey - and he brushed his legs, stomach, rump, tail, nose, mane. Sean laughed as he felt Mickey's warm breath on his hand. He also laughed when Mickey nearly got his nose stuck in the gate. We finished brushing the horses then it was time to hop on and go for a quick ride.

A small set of steps is provided to help the rider get on the horse, and the children are assisted by the volunteers and parents to steady them as they mount the horse. The riding gear is fastened securely for each rider by the volunteers and there is much emphasis on getting on and off the horse the right way. Sean and I watched each of the eight other children get on the horse, go round the paddock, then come back to the mounting area with a big smile on their face. I signed to Sean, 'Fun!' 'Your turn?' Shake, shake went the head-Uh oh. I signed again, 'Yes, fun'. Shake, shake, shake went the head. Then I said, 'I'll go and get your helmet and then you can have a little go'. 'Nah!' 'What if I go and get your helmet and you can just sit on the horse?' 'Nah'. 'If you sit on the horse you don't have to ride anywhere, you can get off when you want to.' 'Nah.' This exchange of words deteriorated rapidly until Sean began crying, started digging his heels in literally, then sitting himself down in the mud. Sean wasn't going anywhere-I could read the signs!

'Oh that's OK,' smiled the volunteer, 'some kids are like this, they don't want to get on the horse the first time. They are adamant about that. But you'll see-he'll change his mind. He can go back over and brush the horse if he wants to, he doesn't have to ride today. And when he comes back next week and still doesn't want to ride the horse, that's OK too, he can pat and brush the horse again.' Game over, I signed to Sean, 'Finished', 'horse no' OK?'. Nod, nod, nod went the head. Another parent and I lead Mickey back to the paddock and Sean 'helped' by holding onto the rope, and laughing as he let it drag in the mud. A very big white horse greeted us at the gate and he towered over Sean as he sniffed his ear, to which Sean giggled again. But the biggest laugh from Sean came when we had to push the big white horse out of the way, so we could get Mickey back inside the paddock. Push, push, push! Sean classified 'horse shoved sideways' and laughed.

'Time to go home. Did you have fun?' Nod, nod went the head. 'Come back next week?' Nod went the head. 'It's a long way to come just to pat a horse, isn't it?' Nod, nod went the head.

Madelene Rich

Riding for the Disabled - Part Two

After two years on the waiting list for Riding for the Disabled (RDA), Sean's first lesson was disappointing to say the least. This is no reflection on RDA, but more because Sean decided he did not want to get on this horse - or any horse-ever!

We had not mentioned the horse riding again until the night before the next lesson. As Sean lay in bed, I said goodnight and asked him if he wanted to go riding tomorrow.

'No' came the answer. I tried again, 'Horse riding with Mickey tomorrow? It will be fun. Do you want to go?' 'I-SAID-NO!' came the response in both verbal communication and sign. I was astonished!

We have been working hard on Sean's communication over the last six years as he has always been very reticent to sign. We call him the 'lazy signer' - blink and you miss it. And his oral communication is hard to understand at the best of times.

And there it was: 'I-SAID-NO!' Superb intonation, clear, strong speech. Good signing - finger pointing toward chest, then finger pointing towards mouth, head shaking from side to side, finishing off with a beautifully formed hand shape that said 'no'. A perfectly executed response. If this was the Olympics of communication he would've received a ten out of ten. I was very excited! His speech therapist would have been excited, his Teacher of the Deaf would have been beside herself.

'What did you say?' I squealed, begging for more. 'I-SAID-NO!' Again, perfectly delivered. What a dilemma I found myself in. I wanted to hear him say it again and again but in doing so I risked him never saying yes, and ultimately never getting back on Mickey. I decided to resist the temptation and leave the interrogation until the following morning.

Once we arrived at Mickey's paddock, I resorted to plan B: involve the big brother. Younger siblings always want to do what the older one is doing. Once Owen had his helmet on, Sean was happy to wear his. Next step: the horse! Mickey was saddled up and ready to ride. The volunteer and I talked to Sean, offering support and at the same time moving him toward the saddle. Without faltering Sean climbed up the steps, swung his leg over the saddle and sat happily ready to ride. Huh! The volunteer and I looked at each other. 'That was too easy', we said almost simultaneously. Before Sean could change his mind, or realise where he was, we quickly moved Mickey forward and walked him around the paddock, the volunteer leading, I supported Sean in the saddle and Owen walked alongside. The volunteer and I were still quite bewildered by Sean's willingness and cooperation in getting on the horse - all done without protest. 'He has made amazing progress, it's like he's a completely different boy.' It was at this point Owen revealed that as we were helping Sean onto the horse, he had signed to Sean 'I will give you 10 bucks if you get on'. Money speaks many languages.

We have successfully attended many lessons since this day and Sean's confidence and skill have improved enormously. Some of the exercises he is required to complete includes: riding whilst holding onto one side of the rein, placing his other hand behind his back or above his head or out to the side, whilst the horse is moving at walking pace; picking up and placing various objects around the arena such as flags and cones or picking flowers from a bush; changing the horse's direction with the use of the reins; start and stop positions.

In June we attended the official opening of the RDA site at Officer. The property which houses the RDA Mobile Unit is owned by Vic Urban, the authority developing the area around the site at Pakenham. Vic Urban offered the land to RDA for their lessons and to house their Mobile Unit. The opening day was a great success with all children and horses behaving beautifully in front of an audience consisting of beaming parents, the mayor, Vic Urban officials, RDA personnel and volunteers. The children were also presented with a certificate of achievement outlining the skills they had attained so far.

RDA is a wonderful organisation providing an extremely worthwhile resource which is beneficial to children and enjoyed enormously by parents. If you are approached for a donation from this organisation, please be assured that your money will be used appropriately and would be gratefully received.

Sounds of Silence

Copy of article appeared in the Education Age, The Age newspaper, Melbourne, Victoria, 9 Oct 2006

Story by Claire Halliday. Photo by Rebecca Harris

An entire primary school is learning sign language, reports Claire Halliday.

AT FIRST glance, the prep room at St Anne's Primary School in Seaford could be any other classroom across the state. It's light and airy, fronted by an enthusiastic teacher, and is filled with the happy murmurs of young children. A soothing soundtrack drifts from the CD player as they draw pictures of animals that might be found in a rainforest. Unlike many other classrooms, however, the children are also using hand movements to communicate in Auslan.

Madison, 6, moves her little fingers deftly to tell a circle of students about her playmate antics at lunchtime. Bailey, 5, and Chloe, 6, watch intently before replying with their own sign language. For the students - many of whom learnt to read and write only English this year - it has been an interesting introduction into another form of conversing.

With Italian already offered as the school's LOTE, St Anne's decision to self-fund Auslan teachers was put into practice in 2005, when principal Margaret Batt received confirmation that seven-year-old Sean would be joining this year's prep class.

"Sean's mother had asked me when he was about three if he could come to school here, and I said 'yes, of course'. His older brother was already here and they were members of the community," Ms Batt says. Sean has CHARGE syndrome - a combination of birth defects that often includes hearing impairment.

"We've got a real basis in justice - justice for all," Ms Batt says. "We try to do our best for all the kids, so if the only way Sean can communicate with you is through Auslan, and if he is to have a social context as well as an academic context in the school, we need to learn his language."

The implementation of the Auslan program has this week earned the school an award from the Victorian Council of Deaf People - a consumer-run organisation that provides an advocacy and information service for the deaf community in education, employment and community access areas at the government and community level. The ER Noble Award presented to St Anne's Primary School is awarded annually in recognition of a person or organisation that has done the most to improve opportunities and options available for deaf people in the community. For Ms Batt, the award has been a public "thank-you" for the school. "We strive to be an inclusive community here, so this award is affirmation of that philosophy," she says. For Sean's mother, Madelene, who nominated the school for the award, it is a tangible recognition of the enormous impact the program has had on her son's life. "The main reason for choosing this school was the principal's attitude to his disability. I had looked at two other schools specifically catering for deaf needs but it is great to have been able to keep our boys together," she says.

According to Ms Batt, "Teaching the whole school Auslan has meant a huge difference to Sean. Since he's been here, his expressive language has gone through the roof. It's in this environment that he started to really express himself. He's trying to mimic a lot of the things that he's hearing and he's got good role models."

The introduction of Auslan has also benefited the school community. "I think that for any kids who suffer from some kind of dyspraxia (motor difficulties caused by perceptual problems), being able to sign is really good," Ms Batt says. "Auslan is such a visual language, it gives a lot of kids a chance to express themselves where they have been struggling. "I haven't got any proof - as in hard data - but it does seem to be improving communication and language skills for all the students."

Tasmanian News and Raphael’s Story

My name is Paul Bartlett, my third child was born on 18/3/2006. We already had names selected for a girl or a boy and so we instantly know what to call him. Raphael Shalom Bartlett came into the world with raspy, gurgly breathing (stridor), a crooked mouth and a funny ear but that didn’t stop us from instantly loving him.

Everyone told us that a lot of babies have stridors and facial palsy and that we could probably expect it to clear up in a few days. After a few days he still had the same little peculiarities and people comments turned to "it will probably clear up in the first few weeks". After a few weeks the predictions turned to "a few months" but by this time another problem had become to surface. Before he was three months old we visited a paediatrician because he wasn't putting on weight fast enough. This referred onto an ENT and barium swallow x-ray in the same day. Back then I thought (naively) that having three medical appointments in one day was probably some kind of record.

More work ensued over the following months looking for the reason that he was not putting on weight and trying different things to get Raphael to gain weight culminating in final success with placement of an NGT (NasoGastric Tube) to supplement his feeding by mouth. During this time we had an echo cardiograph that looked for vascular rings around his oesophagus. There wasn't one but it found a small ASD (Atrial Septal Defect) to add to his list of problems. His osteopath, who was trying to therapeutically resolve his facial palsy, noticed a difference in Raphael's eyes which was ultimately diagnosed as being a microphthalmus (small eye) with a large coloboma of the optic disc and retina. Later, a trip to an audiologist revealed that Raphael had hearing problems and the list of issues was beginning to form a small mountain of reports and letters detailing Raphael's problems.

Eventually an MRI was performed on his head and chest to try to find out what was going on inside him. The anaesthetic gave him a rough time but no permanent damage was done. The MRI revealed yet another problem with his vestibular semi-circular canals (which provides a sense of balance). This was enough for the geneticist to make the diagnosis of CHARGE syndrome for Raphael. He indicated to us that this was a very rare condition and according to his database this is the first case in Tasmania.

Researching on the web for any information on CHARGE syndrome, we came across information that seemed to match other issues that we had noticed in Raphael but previously had not considered them to be important. We found excellent sources of information from the CHARGE Syndrome Association of Australasia, the CHARGE Syndrome Foundation (US), the CHARGE Syndrome Listserv (US) and CHARGE Family Support Group (UK). Their websites, published documents and parent contributions have given us excellent sources of information and platforms for questions to our medical consultants.

So the number of appointment started to grow. Adding to the early intervention and therapy appointments came a bunch of tests to look for the other known potential problems with CHARGE syndrome. Three appointments in one day was no longer a record for us and it was becoming the norm. To date our record number of appointments in one day is eight.