Download - Edition 6 : Winter 2012 YGNET - wired.me.uk · Edition 6 : Winter 2012 CONTENTS ... Hosted by Samantha Cameron, ... There will be bouncy castles, face painting, craft tents, ...

YGNET The Newsletter of SWAN UK

If you are interested in becoming a member of SWAN UK contact Lauren on 0207 704 3141 [email protected] www.undiagnosed.org.uk Facebook.com/SWANchildrenUK Twitter.com/SWAN_UK

Life Without A Diagnosis

Edition 6 : Winter 2012

CONTENTS

2 SWAN UK update.

3 Beatrice Rogers.

4/5 Camp Amazing. GenRes Genetic Forum. Day in the Life as a DDD Research Nurse. Life as a GenRes Nurse.

6

7-9

Scott’s Story.

Matilda’s Story.

9 Fundraising News

10 New Sibs website for younger siblings. SWAN SIBS.

11 13th April 2013, Undiagnosed Children’s Awareness Day.

12 Glossary.

SWAN UK is a project run by Genetic Alliance UK offering support and information to families of children with undiagnosed genetic conditions. Registered charity (numbers 1114195 SC039299) A company limited by guarantee 05772999

mailto:[email protected]

http://www.facebook.com/SWANchildrenUK

http://www.Twitter.com/SWAN_UK

SYGNET : The Newsletter of SWAN UK : Winter 2012 SYGNET : The Newsletter of SWAN UK : Winter 2012

: Edition 6 : Winter 2012 Page 3 : Edition 6 : Winter 2012

You may remember that over the summer last year Waterbabies in Oxford raised over £6000 in aid of SWAN UK. We decided that we would put this money to good use in the form of grants for families to hold events in their local areas. We are delighted to report that two events have already taken place – one in Northern Ireland and one in Bristol. The feedback and the photos suggest that everyone had a brilliant time and we can’t wait to see more events taking place in the New Year. Over the last month or so we have been busy getting the new website ready to go live. The most exciting part for us is our new members only area complete with its own mini social forum! We hope that this will help facilitate even more contact between members and the

SWAN UK (Syndromes without a Name) is a project run by Genetic Alliance UK offering information and support to families of children w i t h und iagnosed gene t i c conditions. We aim to develop a community of families for mutual support who can work together to raise awareness of the issues they face. If you or any other families you know could benefit from support from the SWAN UK community please encourage them to get in touch on 020 7704 3141 or [email protected]

Lauren, the SWAN UK Coordinator was very excited in October last year when she was invited to the Netbuddy reception at Downing Street. Hosted by Samantha Cameron, this was a fantastic opportunity to celebrate the joint working between Netbuddy and SWAN UK, promote the work of SWAN UK and of course, have a photo shoot on the famous door step!

Lauren, the SWAN UK Coordinator at 10 Downing Street.

more traditional thread forum will assist you to share information in an easy way. You can find t h e w e b s i t e a t www.undiagnosed.org.uk To celebrate the launch of the new website and to tie in with the Undiagnosed Childrens’ Awareness Day celebrations on 13th April 2013(see page 11) we are also going to be

hosting our very own SWAN UK Single Post Blog Awards (also known as ‘The SWANS’). The aim of the awards is to celebrate the diverse and creative blogging community that brings people together from al l backgrounds to share their stories. You can find out more about how to enter the awards, or how to support your favourite blogger, by visiting www.undiagnosed.org.uk Please note that this newsletter is for information purposes only. All information is correct to the best of our knowledge at the time of going to print. Any organisations or products included here does not imply that they are

recommended by or endorsed by Genetic Alliance UK or SWAN UK.

About SWAN UK

South west families’ Xmas party

SWAN UK Update

Northern Ireland families’ party.


http://www.undiagnosed.org.uk

http://www.undiagnosed.org.uk


Page 2 : Edition 6 : Winter 2012 : Edition 6 : Winter 2012

This edition of The Sygnet is dedicated to the memory of Beatrice Rogers. “The doctors were so bleak when Beatrice was born. As well as giving us a very poor prognosis, they seemed to write her life off as one big error. They struggled to see the baby underneath all the labels and disabilities.

Therefore, in response to this, my mantra for Beatrice's life was, 'A life filled with love is a life worth living.' I didn't care what she was capable of doing, as long as she was pain-free and lived a life of kisses, cuddles and lullabies. I know I achieved that for her, right to the end.

I think that applies to all the little SWANs out there. None of us know what the future holds, so let's live every day to the best of their abilities and just give them love, love and more love.”

Elizabeth Rogers, Beatrice’s Mum.



What is it? Camp Amazing is a camping event for children with complex medical needs or SEN and their families. Children with complex needs and their families deserve the chance to build memories and participate in every day activities. Camp Amazing strives to provide an opportunity whereby memories can be made and friendships formed. They believe that many fragile hands can build a lot of strength and therefore bringing these families together will make everyone stronger. Entertainment. There will be bouncy castles, face painting, craft tents, discos, group games, sensory play, night walks, mad hatter’s tea party, dressing up and much more. Camp Amazing Aim. To provide a fun filled camping event for children with complex needs and their families and to offer a support network for the family as a whole.

The idea of ‘Camp Amazing’ came from Claire, a mother of five children. Her youngest, Tommy, was born in August 2009 and suffers from a rare genetic disorder and there is no name for his condition. Until she had Tommy, Claire was not aware of the impact such conditions can have on family life. especially the siblings. Part of Tommy’s illness is a heart condition which can potentially limit his life span. Claire wants to do everything she can to make his life, as well as his brothers and sisters lives, full of special memories to be cherished forever. Camp Amazing was created in June 2012. It’s a non-profit organisation and is run by a team of three, Claire, Hannah and Karina. They decided that a great

way of cherishing memories would be to set up a camping event especially for children with complex needs and their families. They feel strongly that the benefit of giving these children a few fun packed days away, whilst giving parents the opportunity to meet other families who understand the challenges they face on a daily basis, is a fantastic opportunity for all the families concerned. Organiser Claire says: “I am a mum of a child with complex medical needs myself so I know how hard going to events like this can be. That’s why I’ve planned this event, so we can all support each other.”

Food. The camping event will include free breakfast consisting of cereals and toast and will have catering companies available to supply food throughout the event. Cost. £50 for the whole family, for more info contact Claire on 01202 668490 [email protected]

When SWANs swim together, Their beauty and grace shine through, Unique, special kids. By Keith Addison

GenRes

The NIHR Genetics Specialty Group, which is part of the research arm of the NHS known as the NIHR (National Institute for Heath Research) identified that Genetics Research Nurses, Counsellors and Coordinators are pivotal in recruiting families to take part in genetic research studies They can however, often feel quite isolated working in the Regional Genetics Centres across the UK with little support.

As many of the issues they faced are often the same, the ‘GenRes: the Genetics Forum’ was established to support them to share good practice and increase the number of families recruited to take part in research studies.

The GenRes Forum holds an annual study day for the GenRes group where they hear about current research, discuss best practice and have the opportunity to network. This June at the GenRes study day, a group of SWAN UK parents came and talked about ‘Families experiences of talking part in genetic research’, led by the SWAN UK Coordinator, Lauren Roberts. It was a very enjoyable and thought provoking session.

Camp Amazing

A SWAN Haiku




Hi, I’m Gill. One of the main projects that I work on is Dec ipher ing Developmental Disorders (DDD) study. When I started last year I was very keen to help families and support them with their involvement in research. I have been honoured to meet some of our families involved in DDD. Here is a slice of my day working on DDD:

I call families and discuss the consent forms. I will ask them if they have any questions about DDD and discuss the research project aims and expectations. Then I ask Mum or Dad how their son or daughter are doing. I hear the most inspiring, courageous and heart warming life stories of how families have fought for their children and how they continue to. I am inspired by every family I speak to, and when the parent says ‘I’ll be involved as it may help someone else’s child’ it just reminds me of why I do the job I do. I can only empathise with how they feel however, I cannot pretend that I know as I don’t.

I work closely with our Research Administrator Anthony. Anthony contacts families for me, and he appreciates how important it is for

families to be supported and make them feel valued when they call. Every family in DDD is important and their contribution to research is greatly appreciated and their time and effort too. It can be a big step for some of our families. It may seem like just spitting in a tube, but there is alot more to it than that, it’s about what it often symbolises for families. For some it is the last option. I always try to stay positive, and say it is a bit of hope. Things change all the time with technology and who knows what we will be able to do in years to come?

I also work closely within the genetics team, and with the consultant in charge of DDD. Sometimes I ask families to come in to the hospital so I can support them with their child’s saliva sample. It is great to meet families, and talk to them about DDD. I understand how important the study is to families, and try to ensure each and every family feels valued and important. I tell families about SWAN UK and hopefully the families will get in touch - some of the families I talk to feel like they are on their own. I hope they get in touch so they know that they are not.

Gill Roberts

Day in the Life as a DDD Research Nurse.

Clinical Genetics Research Nurse “Hi, I’m Beckie. I came into Genetic Research Nursing in February 2012. Before that I worked as a staff nurse in critical care so this was a huge change for me!

I’ve been interested in genetics since school, and always wanted to do a job in this field. When I finished school I did a degree in Medical Genetics, and then went on to train as a nurse. I really wanted to find a career that would allow me to combine genetics and nursing, so being Genetic Research Nurse seemed perfect!

I’m involved in a number of studies, including DDD and GOLD. What I love about my job is the variety of what I do, as well as the feeling that I could help a family finally get the diagnosis they’re looking for. I really love seeing the children and their families in clinic and getting to know them.

Before I started working on DDD I had no idea that so many children were without a diagnosis, and until I came across SWAN UK I had very little idea of the effect that can have on a family. Now I feel even more motivated to make families aware of what research has to offer, and support them in any way I can through the process.

I’ve met families through DDD who weren’t aware that there was any support available to them, so now I’m able to give them the SWAN UK leaflet so that they can access the help they need.

I love working in Genetics; in Leicester we have an amazing team of Genetic Counsellors and Doctors. I would advise anyone interested in taking part in research to get in touch with their genetics department - I’ve met a few other Genetic Research Nurses and we’re generally a friendly bunch!”

Life as a GenRes Nurse



Scott was born two weeks late , the same as my other two children - the only difference was he was came out of the sunroof!! Other than the meconium, he seemed a healthy 8lb 10 baby boy. When he was 12 hours old our life changed. As Scott was being held for the first time by his Grandpa he went purple and rigid…His dad Mark thought he had ‘wind,’ I however grabbed him and ran to the nearest midwife, I have never felt that fear before, heavy chest, fast heart beat, wobbly legs, every part of me was numb. Scott was given oxygen and checked over at NICU, but was perfectly normal. They watched him for a few hours and off we went back to the ward. Sadly this was not a one off and happened again and again, in fact we never had 12 hourrs without one of his cyanotic episodes. Scott would drop his sats down so low it was amazing he came out of it with just oxygen! Things got worse, Scott had some sort of infection. He had shadows on his chest, blotches all over him and he had swollen up. Now we were in high dependency unit. Test after test came back normal yet Scott was far from ‘normal’. Nearly three weeks later after numerous testing Scott was well enough to come home. We had established that Scott would bring himself out of these episodes so we could ‘manage’ him at home with help from community nurses.

Scott’s Story

With each of our children when we have arrived home from hospital we have ordered a Chinese, sort of a little tradition we have, we do it on birthdays too. Well, the Chinese arrived and I sat down with Scott in front of me on his chair. This should have been a celebration! Yet with every swallow I remember trying to hold back the tears. This was not a celebration, the happiness was replaced with fear; fear of what we had been through had, fear he would do it again (which of course he did), and the fear of what would happen in the future. This was NOT the baby I expected. Scott is now two years and seven months. He has epilepsy, global d e l a y , m i l d d y sm o r p h i a , hypermobility and low muscle tone. There are also other things now cropping up with his vision and his behaviour. BUT to us he is handsome, loving, funny and of course unique! Two years of our life was taken up chasing answers trying to find out was ‘wrong’ with him and worrying about his future. But what we had missed was far more important! Who he is today!! We still have bad days (sometimes weeks) and I find appointments hard as they are like a reality check or a reminder of the challenges he faces. But life

Matilda’s Story

I always wanted a baby girl so was thrilled in 2008 when at my 20 week scan I was told a healthy baby girl was growing inside me! I couldn’t wait for all the girlie things, when she gets older playing with dolls, taking her out, playing dress up etc! So many dreams and aspiration, an exciting time! Matilda arrived in November 2008 after a very quick straight forward labour. A beautiful baby girl, perfect in every way. A head full of black hair, big round deep brown eyes, I felt so proud. I picked her up and put her to my breast where she latched on like a pro, what a clever girl I thought. I took her home the next morning and took to my new role as mum like a duck to water, I felt as if I’d found my niche! This is what I’m meant to be, ‘a mummy’. Everything was going well, and apart from my partner getting made redundant, we were doing well! Nothing mattered anymore because we had a baby girl. However, despite all this, I always had this underlying feeling that something wasn’t right. This resulted in me constantly asking if she was ok or was it normal! I’d take Matilda out in her pram and people would continuously stop me to say how beautiful she was! The health visitor was very happy with her. She was thriving, putting on weight, focusing well, smiling at six weeks, and holding her head as expected. I did



however notice that she seemed floppy and her joints very loose. I explained this to the GP and health visitor and was told she is a newborn it’s to be expected! At four months old, we took a trip to Scotland to see my partner’s family so they could see the new addition. Unfortunately we picked up gastroenteritis and breast feeding was difficult so we decided to top up Matilda with formula. Luckily Matilda didn’t get the bug – the doctor was impressed said she must have a good immune system, my strong little baby! She had started suffering with constipation beforehand but nothing too serious. One bottle of formula and it seemed as if she didn’t know how to poo anymore (sorry for too much info!) It took 10 days for her to have any bowel movement and the poor girl was in pain. This is where the difficult journey began! At this point I began to notice differences between Matilda and other babies her age. She was very behind and I often left baby groups in tears due to other mothers comments & questions! The constipation continued with constant appointments with the GP, dropping in to see health visitors! They put her on lactolouse and I was told it was very common. I also questioned her development but was told there were no concerns. Finally Matilda was referred to a specialist to check her to see if anything was wrong with her bowels. We took her at six months, the paediatrician did thorough checks and was confident there was nothing to worry about but would like us to come back in three months. Once again, I mentioned her development and was told he wasn’t concerned but to speak to my health visitor for more advice. I phoned my health visitor who very kindly came to see us. She reassured me that Matilda was not

behind and to continue what we are doing! She was weaning well and seemed very contented apart from constipation. Matilda at eight months had still not developed any further. She didn’t hold toys well, had no pincer grip, she was not very responsive, barely made a sound, if you were holding her hands when sitting and lowered her to the ground her head still hit the deck. She struggled to bring her head up when you pulled her arms. She couldn’t tolerate lumpy food, she wasn’t rolling or sitting or weight bearing (on her feet). I was very worried! She showed no interest in picking up food and couldn’t chew. Another call to the health visitor! It consisted of me telling her. I’ve done everything I’m supposed to, I sit on the floor with her between my legs, I sing and talk to her all day, I lay with her on her tummy etc etc – something is not right! Finally, they listened to me and I took her in to the clinic. The health visitor agreed, she referred her to Physio! There was a waiting list!!! At 11 months Matilda saw a physiotherapist. At last someone agreed something wasn’t right. I was looking forward to getting answers! The physiotherapist. straight away said Matilda has Hypotonia (low muscle tone) especially around her core muscles (stomach) which would explain why she was struggling to sit & also has severe hyper mobility (increased flexibility around the joints, where tendons are lax, also known as double jointed). The physiotherapist was confident that this was re spon s i b l e f o r Mat i lda ’ s developmental delay and with the right exercises and input from physiotherapy she would catch up and should see improvement and hopefully by age two should be catching up. I came out of that appointment with a huge smile - I

had an explanation, she will be fine! So off I went with the list of exercises & diagrams to get started on them. I managed to stay patient through the exercises, Matilda was not impressed. We saw the paediatrician just after the physiotherapist. He agreed with the physiotherapist’s findings and said he will see us again in 3 months. At 14 months, after constant physiotherapy at home and a p p o i n t m e n t s w i t h t h e physiotherapist, we were no further along. Matilda had not developed at all! I knew that this was more serious than they originally thought. The physiotherapist suggested a specialist chair for Matilda for the floor to help her to sit. Also a standing frame to help her stand. My heart dropped as I wanted this equipment but I knew what it meant, Matilda is disabled!! The physiotherapist also suggested that the paediatrician performed some tests on Matilda! Oh god, I thought, what does that mean??? We went to see the consultant. He was talking but I’m not sure I was taking it in. He did a blood test and said he will send a referral for a MRI scan, this was getting scary. He said the blood test was to check for a few different disorders, he also wanted a urine sample as well! The blood tests later came back negative, phew (I thought). When Matilda was 17 months old, we received the letter for the dreaded MRI scan. I took the letter to work to request the day off – I burst into tears! Where the hell did they come from?! It was the first time I got upset in front of people and admitted what we were going through. I was so scared about Matilda being sedated and what if she has brain damage?? But then at least I thought we’d know what we are dealing with??? I had so many mixed emotions. We took her for the MRI. Matilda



being her typical happy self, made no fuss about the suppository to sedate her, was giggling and happily fell asleep and had the scan. So now we wait for the result! In the same month we received DLA (disability living allowance). It became official, Matilda was classed as disabled. I stopped taking Matilda to baby/toddler groups as I could no longer deal with explaining why she wasn’t running around or why she couldn’t talk, so hard to explain when you have no answers yourself. Luckily, a friend told me her mum ran a group for pre-school children with additional needs and to go along. Wow, what a breath of fresh air, I was with other people in similar situation. It was a small group at a Children’s Centre, run by a portage worker (play worker who visits home to help development). Through this group Matilda was referred to portage. Through this small group I was told about another group cal led ‘opportuni ty group. ’ Unfortunately, the funding was cut for the other small group, so we started attending the Opportunity Group. Opportunity Group was amazing, I got on with all the staff and parents, and I felt I could be open and honest. The great thing was, the other children did not have diagnosis either. We aren’t alone, we do belong. It was the first time I had left Matilda with anyone other than family for a long time while we parents went for coffee and a chat! It was amazing. When Matilda was 18 months old we went back to see the paediatrician’s, dreading the results. Part of me was hoping for something, the other part was hoping for nothing. Matilda was becoming increasingly difficult to carry & keep occupied.

Also the irregular sleep pattern started. We sat in the consultant office waiting for results; he started a s k i n g a b o u t M a t i l d a ’ s development and examined her. I then said what about MRI results?? “Oh you haven’t had them yet” he said, “Err no, we thought that’s why we were here” for goodness sake! They were fine, completely normal Great, what now then?! We were told Matilda has global development delay of unknown cause and to carry on with portage & physiotherpay. They also appointed an occupational

therapist, I remember thinking ‘how are they going to help???’ A few months later the physio came to us for an appointment (as Matilda did participate at their clinic) and she came accompanied by the occupational therapists & a Speech and Language Therapist! At age two, Matilda attended an assessment at the hospital, where she was seen by many different professionals. They observed her behaviour and completed tasks with her, many of them she couldn’t do, but they were impressed with her attitude, as she was happy all the way through. She also was given a Lycra suit that was to help her muscle tone, a tight all in one Lycra suit to be worn all day. After a few weeks of observations we had to attend an appointment with all the professionals. They all talked about Matilda and their findings. They said she was

functioning at around the 6 month stage! They said she should also have a hearing test, see a geneticist and be referred to wheelchair services! More mixed emotions – we desperately needed something for Matilda as she was not comfortable in her buggy, her feet scrapped on the floor she was flopping all over the place, but a wheelchair?! A few months later we got the specialist buggy, it was life changing! We could go out and Matilda was comfortable. Matilda had started nursery one session a week and was still not sleeping. We referred to a sleep clinic where they assisted us in configuring a routine. It was hard to see the light at the end of the tunnel. We saw the geneticist. After they did some measurements and looked at different body parts, the geneticist said nothing really stood out, no unusual features. The geneticist then started talking to us about testing; the latest in genetic testing called a micro array. All her chromosomes would be tested through her DNA, it was just a simple blood test needed! ‘Yay’, I thought, again a possible answer may come of this. Six weeks later we received a letter to say that the results were entirely normal. Great, back to the drawing board. In the meantime we had been to A d d e n b ro o k e ’ s r e g a r d i n g Matilda's severe reflux; she was on medication but no improvement. We saw a gastro-entronologist and a dietician and we were told to put Matilda on a diary & soya free diet and new medication . Wonderful! We were also advised to get rid of the Lycra suit. On a positive note the constipation had improved. The next step was looking a

Matilda's Story Continued



Fundraising News

Over the last few months, we have had some great fundraising activities going on. At the beginning of October, Carolyn Brathwaite and her partner Nat did a terrifying bungee jump – raising money for SWAN UK and for Small Steps pre-school support service. Later in October, Patsy Beverley did an equally terrifying Sky Dive for SWAN UK. A huge thank you to the very brave and determined Carolyn and Nat and Patsy for overcoming their fears and supporting SWAN UK.

A big thank you also to Theresa Mills, a friend of SWAN UK member Emma Murphy, who asked the guests at her 40th birthday party to make a donation to SWAN UK instead of buying her a present. Theresa decorated her party venue to tie in with the SWAN UK theme and sent pink envelopes with blue feathers to her friends f o r d o n a t i o n s . T he re sa ' s gue s t s donated over £500 to

SWAN UK.

In November, Claire Smyth and a group of volunteers spent two hours packing bags in their local Sainsbury’s, raising £400. Two of the volunteers, Leanne Hamilton and Caroline Monteith, also managed to get the money match-funded by the company they work for - Mercer, bringing the total

raised up to £800! A big thank you to everyone who took part. Lauren and I often have to remind ourselves that SWAN UK only started in May 2011 and that 2012 is our first full year. We have been amazed at how quickly members and supporters have got involved in fundraising to support SWAN UK’s work. In 2012, you have raised over £11,000 to support SWAN UK - an amazing amount for such a new project.

THANK YOU TO EVERYONE WHO HAS SUPPORTED US. Helen Parr, Fundraiser.

specialist nursery for when she turned three, that again was a daunting experience. I felt as if we were thrown into this crazy world that I didn’t even know existed a year before. We chose the right special needs nursery. Matilda was then diagnosed with suffering from sensory processing disorder, which explained some of her strange behaviours, self harming, sensitivity to light & sound. Now at age three we are still no further with a diagnosis, we only have a bunch of symptoms, severe global developmental delay, hypermobility, yypotonia, gastric ref l ux , sensory process ing disorder!!! It is a lot easier however as we now have the support we need. Matilda is a very happy little girl, still my beautiful perfect little girl!!! I’ll never give up hope!

I recently joined SWAN UK and now I have somewhere to go for every emotion – if Matilda achieved something.. if I’m having a bad day...We share everything & feel I can be open and honest. Like one big family! Matilda now has a baby sister. Having another child was a big decision for us. We were told by genetics that the chance of it reoccurring is 5% based on statistics from other families in a similar situation, but really they didn’t know. Arabella is now 3 months & developing well, I’ve noticed how different she is to Matilda. I was recently asked what would I say to a parent just starting their journey? My answers – go with your gut instinct, don’t give up, seek out other parents, and never stop believing in your child’s potential! If you would like to share your child’s story on the SWAN UK blog or in future newsletters, please email it, along with any photos, to [email protected]

Patsy’s Skydive

Carolyn and Nat’s bungee jump

Theresa Mills birthday bash

http://www.facebook.com/mrs.emma.murphy



New Website for Younger siblings

The organisation Sibs now have a website specifically for brothers and sisters of disabled children. With information on subjects like being bullied and not being able to do school work to sections on your feelings or ideas for games you can play with your disabled brother or sibling it’s a great new resource. www.youngsibs.org.uk

The pilot penpal scheme is going well with around five siblings now matched up and a few letters already swapped. To join the scheme email [email protected]

SWAN SIBS

“Scott was recently in for a telemetry EGG. This is the evening visit from his big sister. It makes me smile as he was so excited to see her and they had a great time playing!

‘The Kowalski siblings share a secret!’

‘The Craggs brothers’

“This is my little Swan Hannah having her first real cuddle with her big sister Bethan. Until now Beth was unable to hold Hannah due to her back arching and her braces for club foot. Now Hannah has been out of boots and brace in the daytime for about fourweeks she has become so much more comfortable.”

“The McCrystal brothers enjoy a day out.”

“I wanted share pictures of my Swan and one year old playing, my Swan has only just lately realised his sister "exists" - he even hugged her last month.”

http://www.youngsibs.org.uk



What is ‘Undiagnosed Children’s Day’ all about?

Last year a few parents of children w i t h und iagnosed gene t i c conditions decided to declare 13th April ‘Undiagnosed Children’s Awareness Day’. The idea was to help raise awareness by talking, tweeting, blogging and texting about undiagnosed children and wearing blue (and sharing pictures of yourself wearing blue.) You can read more about this by visiting teamaidan.wordpress.com/2011/04/13/elevator-speech/

We have decided to join in and take things a bit further so as well as making as much noise online as you can, we would also like you to get out and about in your local area raising awareness and generally demanding as much attention as you can to help get children with undiagnosed genetic conditions noticed! To tie in with the SWAN UK colour schemes we are asking you to wear pink and/or blue and let us have your photos so we can share them!

In the run up to the day SWAN UK will also be hosting its very own SWAN UK Single Post Blog Awards with the winners announced on 13th April 2013 – keep your eyes open for more information or email [email protected] to register your interest.

What can I do to celebrate ‘undiagnosed children’s day’?

Take part online. Change your FB or Twitter profile to a picture of you in blue or pink (or your SWAN UK t-shirt or hoodie), write a blog post, tweet us pictures of you wearing blue or pink, use your status updates to ask all your friends to join in the celebrations

Take part in a challenge event. Get your fr iends , fami ly , colleagues and neighbours to sponsor you in a run, swim, bike ride, bungee jump, sky dive or other challenge event. For more ideas or to find an event near you, check out charity events websites l i k e D o i t F o r C h a r i t y www.do i t fo r char i t y . com o r specialist event firms like UK S k y d i v i n g A d v e n t u r e s www.ukskydivingadventures.com.

Be a local media star! Appearing on local radio or in your local paper is a fantastic way to reach out to other parents in your area who might benefit from support from SWAN UK – get in touch with their news desk (you should be able to get their contact details by looking at their web page) and see if they are interested in your story.

Meet up with other SWAN UK families. Why not use the day as an excuse to catch up with other SWAN UK families near you? Make sure you share your photos of the day with us!

Organise an event or activity. Involve your friends, family, work colleagues, neighbours, school, place of worship or club in an event to raise awareness / funds. You can do just about anything:

Coffee mornings, lunches, parties.

Concerts, pub quizzes, golf days, sponsored walks.

Non-uniform and dress-down days at school or work.

Sponsored diets, head shaves, beard growing.

Babysitting, lawn-mowing, car cleaning.

Unwanted gift/clothes sales, cake sales, car boot sales, auctions.

Organise volunteers to do a supermarket bag pack.

Make a collection. Make a collection as part of an event or at work, school, your place of worship or club. Remember, if you are making a collection outside your own home, you should always ask permission and may need a licence – check with us if you are not sure. We can provide collection boxes if you need them.

Encourage your company to support SWAN UK. If you work for a company that makes donations to charities, ask if they will make one to Genetic Alliance UK to support SWAN UK Awareness Day. Many companies prefer to support charities that have a personal connection with a member of their staff, and some may also consider match funding money raised by staff – so if you and your colleagues do something to raise money, the company might match £1 for every £1 staff raise.

If you would like to discuss your fundraising ideas or have any questions, don’t hesitate to contact me - I’d love to hear from you. Helen Parr, Fundraiser [email protected] 020 7704 3141

13th April 2013, Undiagnosed Children’s Awareness Day

teamaidan.wordpress.com/2011/04/13/elevator-speech/

teamaidan.wordpress.com/2011/04/13/elevator-speech/


http://www.doitforcharity.com

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The glossary this time is a little bit different – we have been collecting all the terms that our members in the SWAN UK Facebook group use with their families. What words does your family use? Belly burps: Venting a Swan’s gastrostomy Chimpanzee arms: The ability of children with additional needs to reach across long distances to grab things they aren't supposed to have. Works with all children but those with additional needs seem to excel in this area. (Also known as go go gadget arms or ‘Mr Tickle Arms’). Deja poo: yet more poo.

Exhaustipated: too tired to give a . . . .

Funny Onion: We call our swan our ‘Funny Onion’ when he does something really quirky or just completely strange.

Hamstering: Unable to sleep because of all the thoughts going through your head.

Mucus monster: full of cold.

Monkey feet: the evolutionary process that helps Swan parents have 'two pair of hands.'

Na: dummy.

Nen nen: medicine, used for simplicity of speech purposes and stuck.

Nice 'n' spicy: a tantrum. After Nik Nak (the crisps) paddy wack (having a paddy).

Ning-nang: A gingerbread man, originally because my son couldn't pronounce it, but it stuck.

Orangutan walk: walking with arms raised above head for balance,

Glossary

my swan is the expert at this and wouldn't get about without orangutan arms!

Prison shower: child covered in poo frogmarched into shower - a new family favourite! Poonami: tsunami of .... well you know...

Sh-rump: Like a shart( a fart where a bit of poo comes out)..only nicer sounding as we use the word 'trump’.

Sly poster: child who doesn't wipe his bottom who comes over all independent and poos in toilet without telling anyone. Sung to the tune of Kate Bush's 'Babushka' as in 'ohhhh naaaaa sly pooster sly pooster sly pooster ya yah'

Shoe poo: poo that tries to bypass the nappy and heads straight for the shoes!

Stealth poo: sneaking one out noiseless! Remaining hidden until the smell reaches your nostrils!

Stupid o'clock: meaning you’re awake far too early so your brain can't register what time it is.

Swan sense: that gut feeling that tells you things are not right despite appearances (always right too).

Timmy: feeding tube

Tome: Bottom which was a speech thing that stuck

Trickle-treating: A slow trick or treat route among familiar houses, dealing with sensory issues as we go.

Um ums: food.

Wonky - a child for whom nothing is ever straight forward.

YinYin – the name for naughty mummies who go back to work and abandon their child (in the very safe hands of a nanny)

Yum yums corner - a place a Swan can go to get a snack, especially if Daddy is standing there as he is a sure bet for chocolate! If you would like to join the SWAN UK Facebook group please contact [email protected]. What would be a useful theme for future glossaries? Let us know and we will do our best to include them.