Merry Christmas

We hope you all enjoy the latest Newsletter.

Good wishes to all our members,supporters and volunteers for a Merry Christmas and Happy New Year.

We look forward to working with you all in 2013 to help us raise the profile of those affected by 22q DS.

A big thank-you to everyone for their continued support in 2012.

Team Max Appeal

Belfast Family Meeting

W5 in Belfast's Titanic Quarter provided a great family friendly venue.

The children (including the big ones pushing the buggies) thoroughly enjoyed the interactive science based attraction and all had a good lunch with a small pitch asking for volunteers for our parent panel.
W5 Belfast

We were pleased to meet up with some families from Heartbeat NI which is the thriving family support group for heat children in Northern Ireland.
Heartbeat NI

Also, and by a complete coincidence, while investigating the excellent indoor market in Belfast, the Wootton's (literally, as in "Oops, sorry!") bumped in to Margaret Curtain of the Irish (Eire) 22q group who happened to have travelled up from Cork!

The event was huge fun for everyone and Max Appeal is delighted to have spread its wings from mainland Great Britain to now have covered the whole of the United Kingdom. The next NI gathering is warmly anticipated at the end of January 2013!

Facebook Group for Adults with 22q

This a new and 'secret' group, that's a facebook term that means that no-one can see it on searches and no-one can see who the members are.

It is only for adults with 22q deletion to share their experiences.

You must have 22q to join. email info@maxappeal.org.uk or "Contact Us"

Breaking News... Consensus Document

Consensus Document for 22q Deletion Syndrome

Max Appeal is pleased to publish the Consensus Document for 22q Deletion Syndrome.

Click to see the link!

cm.maxappeal.org.uk/information/consensus_project/content.asp?s=44&p=67

Publicity for 22q Deletion Syndrome on Scottish TV

TV Interview for 22q family

If you can access Scottish TV, listen in to the news this evening, (4th October).

Raising Awareness

The Knewlands, members of Max Appeal are being interviewed to help raise awareness of 22q Deletion Syndrome and Jeans for Genes Day.

Max Appeal is one of the charities supported by Jeans for Genes Day on Friday 5th October.

Please take the time to raise awareness of 22q Deletion Syndrome in your local area.

Thanks to local members who are already busy promoting awareness of 22q DS, Jeans for Genes Day and Max Appeal in their local areas.

For any assistance please contact; info@maxappeal.org.uk

Jeans for Genes Day 5th October

Has your child's school signed up for Jeans for Genes?

Please promote this year's Jeans for Genes Day.

Max Appeal has joined the 50/50 fundraising scheme.

For further details please visit the link below;

Local businesses can get involved too!

Great North Run

2012 Was a blast!

Somehow arrangements went very smoothly this year! Dropped all the stuff off at the tented village in South Shields to meet the runners at the end. Had a lovely dinner at the Italian just round the corner from the hotel under the Tyne Bridge.

Set off in good time in the morning and met up with a few runners at Haymarket for the obligatory 'before' picture! All brave and optimistic, or nervous and putting on a brave face.

Martin showed us his new tattoo, which was lovely... but didn't take a photo of it sadly!

Also there was the obligatory last minute pinning on of race numbers... mind what you're doing with that safety pin.. sometimes they're not very safe at all!

Then the Max Appeal suport team moved off to the Metro station with supplies of sandwiches and drinks... gosh it's tough going on a crowded metro all the way over to South Shields... on the other hand we could have been running it...

Birmingham Half Marathon

21st October 2012

The registration for this run is now clsed... sorry peeps, but please do come along to Brum and cheer on Team Max Appeal!

Jeans for Genes Day 5th October

Max Appeal Supported by Jeans for Genes Day 2012

Help us make this year's Jeans for Genes Day on Friday 5th October truly memorable, as Max Appeal is one of the Jeans for Genes charities.

It is a fantastic opportuntiy to help us raise the profile of 22q Deletion Syndrome and some funds for both Jeans for Genes and Max Appeal.

Read more about how to help.

Beach Day Scarborough South Beach

Buckets and Spades on Scarborough Beach

Max Appeal families enjoyed a day together on Scarborough Beach.

We hope to do it again next year! Look out for further information on our website.

If you live in the North East and you would like to attend some family events, please contact us, info@maxappeal.org.uk and we will keep you posted of local events.

The Great North Run is the next item on the calendar, so please come along and support our runners.

Cannon's Hill Park, Birmingham

Family Meet Up and Picnic

Please see the events pages for our get together on Wednesday 15th August at 2.00pm.

22q Picnic in the Park

Regent's Park, London, 22q Picnic

Join us for a get together and picnic this weekend on Sunday 22nd July, from 12.30pm onwards meeting at York Gate, Regent's Park.

Bring your picnic and games. Visit the nearby wildlife garden, enjoy face painting, ball games and meeting up with other 22q families. We will be holding the AGM as well.

Look out for the red balloons and you should find us!

Unsung Hero Award

Julie Awarded at 22q International Conference

As you may have seen on our website or on Facebook Julie Wootten was awarded the Unsung Hero Award at the recent meeting of the International 22q meeting in Orlando. This was the first time that it had been presented so Julie really was right at the top of the list for the award.

I felt very proud....

I felt very proud to watch her go up to receive the award. I have known Julie for about 13 years and I became involved with Max Appeal because at our first meeting she impressed me so much with her aims and determination that I wanted to help as well. Obviously that opinion is shared by many other people outside the UK as well as by the many people whom she has helped since Max Appeal was founded.

Here are some of the things which were mentioned;
Along with other parents she founded a UK registered charity supporting families affected by 22q
It's all about sharing, about hope and about standing with our families.
Working with clinicians to develop UK specific healthcare guidelines and growth curves for 22q11.2DS.
Mastered the ability to bring issues related to 22q DS to the highest level nationally in the UK including seeking parliamentary representation and other high level committees on multiple occasions.
Organised countless social events and family weekends and camps where children with 22q and their families have the opportunity to learn, network and build lasting friendships
Successfully partnered with professional organizations such as ACHD (Adults with congenital heart disease) and The Children's Heart Federation to help ensure the patient's and family perspective is always heard.
Hosted the last international meeting in the UK.
Organised and successfully carried out countless fundraising efforts to help support the work of Max Appeal.
Continually offering support and most up to date practical clinical information to families. Helping them to navigate medical decision making and interpreting scientific data.
Worked collaboratively with many other 22q Foundations.
International commitment to actively participate in recent newborn screening initiatives with a presentation before the US Secretaries Commission on Newborn Screening and Heritable Disorders.
She acts as an advocate, joining families at medical and social service appointments across the UK with no regard for personal recognition or glory.
Ongoing service to patients and families over the past 13 years.

Driven beyond belief...

Julie was described as;

A woman who is passionate, bright, determined, articulate and driven beyond belief. A woman who has a clear vision. A woman who has helped make the world a better place for children, adults and families affected by 22q. A woman who is a TRUE UNSUNG HERO...

An award for everyone who has helped Max Appeal grow and develop

Julie would be the first to acknowledge all the help and support along the way, on her 22q journey.

If it wasn't for all of the supporters, volunteers, trustees and professionals who have contributed their talents and time to our cause Max Appeal would not be the strong and thriving organisation it is today.

So well done everyone for the hard work so far, ....but we know there are plenty more challenges ahead to achieve recognition and public awareness of 22q Deletion Syndrome.

Our inspiration, Max...

The children and their families affected by 22q Deletion Syndrome provide our inspiration.

It's great to see all their achievements, despite their adversities and remember Max and all the other children no longer with us.

Leah Celebrates her Award

School recognise Leah's Hard Work

We were so pleased to hear from Sarah, Leah's Mum as Leah has received a special award from her school.

Raising Awareness

Leah has worked hard over the last year at school to raise awareness about 22q Deletion Syndrome. She was very proud to have her hard work recognised when a special award for Courage was presented to her.

Leah came along to Splash Camp and shared her good news with everyone. We were very please to celebrate Leah's success.

Tell us about your successes and achievements, overcoming the affects of 22q Deletion Syndrome.

Email us at; info@maxappeal.org.uk

NASEN 'Talking Point' Article on 22q

Share the 22q Article with your SENCO

Hilary Joyce has article published in the July copy of the NASEN magazine.

Talking Point

NASEN provides lots of information for SEN teachers and support staff, so we are delighted that an article written by Hilary Joyce about 22q Deletion Syndrome was published in the July copy.

Please highlight the article to your school SENCO as it is a good way to raise awareness of 22q.

Please see the link below to view the article and other useful information.
www.nasen.org.uk/special-magazine-archive/

Craig fundraising at the Nuneaton Carnival

Nuneaton Carnival

Craig and his family are local supporters of the Nuneaton Carnival and he always finds an opportunity to support Max Appeal as well.

Craig raises funds for Max Appeal

Paul Wootton from Max Appeal was pleased to join Craig and his family to receive a cheque in favour of the charity.

Here's the photo moment with our carnival cheque presented to Paul Wootton of Max Appeal, Craig, his mum Chris and cousin Kyle with Kyle J Bacon at Attleborough Sports Club.

Jubilee moment

Craig celebrating the Queen's Diamond Jubilee, along with Mum,Chris and his fantastic Daleks. Thanks to Nuneaton Carnival for the photo!!

STOP PRESS. Special Award for Julie Wootton

Award from the International 22q Meeting, 2012

News just in from Orlando, Florida.

Julie was awarded the inaugural 'Unsung Heroes Award' for services to the 22q community.

The award was presented to Julie today at the 8th International Meeting for 22q Deletion Syndrome.

Well done! We are very proud of your work here at Max Appeal.

London2012 Torch Relay at Saffron Walden

Dan takes the first leg at Saffron Walden

Dan, is delighted to be carrying the Olympic Torch in the first leg of the relay around Saffron Walden on the 7th July at 12.37pm, Newport Road.

If you are around the area you may like to go along and support him.

Everyone at Max Appeal wishes him well for his big day.

It's been quite a year for Dan, as he is also a keen cricketer. He was selected for the Essex Disability Cricket Club team and he was also asked to join the England Development squad.

www.london2012.com/torch-relay/torchbearers/torchbearers=daniel-thomas-3316/index.html

Dan with Essex CC 1st Team

Dan joined the Essex Cricket Club first team for the day, as well as the England development squad.

He helps to coach junior players.

Well done Dan!

Tell us about other sporting achievements by Max Appeal members. Just email; info@maxappeal.org.uk

FAMILY FUNdraising DAY

on Sunday 15th July 12noon to 4pm

Mercure Goldthorne Hotel, Wolverhapmton is the venue!

Click here.. or just go to What's On / Future events.

Picnic in the Park (and AGM) - 22nd July 2012 Regent's Park, London

Join us from 12.30pm onwards.

See more on the future events page!

Great North Run and Birmingham Great Run

Be part of the team for these important fundraising events

There is only a short time left to secure your place in either of these great events and raise funds for Max Appeal, so please get in touch.

Max Appeal has a number of places available.

The Great North Run is on Sunday 16th September at Newcastle and the Birmingham Great Run is Sunday 21st October in the City Centre.

The dates are fast approaching for final registrations, so to secure your place please contact Paul@maxappeal.org.uk asap.

Can you help ?

A Special Request for Lee

We have been contacted Wendy Brain Senior Practitioner Adoption Officer. This little girl needs a new family!

If anyone is interested to learn more about this child contact Wendy by emailing her: wendy.brain@pembrokeshire.gov.uk

Lee Born April 08

Lee is a sociable, lively little girl who is friendly and likes company. She has a wicked sense of humour and loves books and puzzles. She interacts well with other children attending playgroup 5 days a week where she has a wide circle of friends. By September 2012 Lee will be attending full time main stream school. She eats well, her speech is excellent (including a few words of Welsh) and her self caring skills are almost age appropriate.

Lee became looked after in 2010 when she was nearly 2 and prior to that she had been raised by her maternal grandmother with minimal input from her mother. Lee's development was delayed but since being looked after she has caught up and most of her abilities are now those of any other child of her age; it is thought that her developmental delays were largely the result of neglect and poor stimulation. Since coming into care Lee has lived with one foster carer and has developed a good attachment with her. Her carer describes her as rather an anxious child who needs a lot of reassurance. Lee does not easily accept changes to her usual routine and reacts to change by having disturbed nights.

Lee has Di George Syndrome however any effects of this on her development appear at this time to be minimal. Lee's future needs are unknown she may develop difficulties and require increased levels of care as she grows up however the indications are that she will need minimal specialist support in future and it will only be if her condition deteriorates that she will need further support services, for example if she develops heart problems later in life. Potential Adopters will be offered Genetic counselling to inform them about Di George syndrome and its implications for Lee and a consultation with a paediatrician so they can be informed about Lee's likely physical and emotional health care needs.

Ethnic and Cultural descent: Lee has a medium/dark complexion and is of Mediterranean appearance. There has been speculation about her heritage but her birth family do not know of any relatives of with a different racial history. Lee is being brought up as a white British child who is mainly English speaking but at playgroup speaks some Welsh.

Adopter(s) Sought: A one or two parent adoptive family where they can manage the uncertainty of this little girl's medical condition.

Contact: Twice year reciprocal letter box with birth mother and father.

Legal Status: Placement Order.

Support: Includes possible adoption financial support.
Preferred area for Placement: any in the UK.

Free Golf Lessons in Scotland

Sent to us from the Scottish Disability Golf Parnership!

Three Free Golf Swing Clinics:

Sunday 22nd July- Palacerigg Golf Range, Cumbernauld

Sunday 5th August- Wellsgreen Golf Academy near Kirkcaldy

Monday 6th August- Wellsgreen Golf Academy near Kirkcaldy

Anyone of any age, with a disability or serious health problem, that interferes with playing or
learning about golf, and their coaches/carers, are invited to participate in our FREE First Swing
Clinics.

The First Swing Clinics, where golf lessons, tuition, catering and use of practice facilities are
provided FREE OF CHARGE, for beginners, novices and established golfers, will run on the above
dates and participants can come along for one, two, or all three days.

Places are limited for this event and slots for golfers and coaches/carers, will be allocated
strictly on a first-come, first-served basis. A refundable entry fee of £10 per person, per day,
must be sent with your entry form. This will be returned to you on attendance. Payments will be
retained by the SDGP for anyone failing to attend.

Scottish Disability Gold Partnership

Max Appeal Activities at South Cerney Outdoor Education Centre

Splash Camp 2012 and Make a Meal with Max Appeal

If you would like to join us for this year's Splash Camp on Friday 13th - Sunday 15th July, please contact claire@maxappeal.org.uk to request a booking form.

The camp will be held at South Cerney Outdoor Education Centre and it will follow the usual format using a range of water sports based activities.It is aimed at the 8 - 18 year old age range.

The aim is to work as part of a team to build confidence and self esteem and have fun. It's also an opportunity for parents to get together and share experiences.

We will also be running a one day workshop with the cooking school.

It will be a practical day of menu planning, shopping from the local market and shops, cooking and enjoying the meals together.

The day is suitable for 16 years and above.

There is a range of accommodation nearby or it is possible to camp on site overnight if you have your own tent.

Please contact claire@maxappeal.org.uk for further details and to request a booking form.

British 10K Run

Take part in the British 10k run 8th July

Would you like to set yourself a Challenge this Olympic Year and be one of 25,000 runners running through London, passing many of the city's iconic and most world renowned sights? Then sign up for this year's British 10K on Sunday 8th July and enjoy 40,000 spectators cheering you on all the way!

The Children's Heart Federation have some spare places and they have offered them to member charities.

Funds raised will go to Max Appeal.

The registration fee of £25 and you can pay this by sending a cheque or donating online at www.chfed.org.uk/dontate.

For a registration form please contact Claire@maxappeal.org.uk

Review of Adult Congenital Heart Services

Engagement Phase of the review of (ACHD)

The NHS has launched the next phase of a review into adult congenital heart services (ACHD), initiating a period of engagement to gather the views of patients and their families, NHS staff, clinicians and other groups to help shape services in the future.

Over the last few months an expert Advisory Group of clinicians, commissioners and patient representatives has been working together to explore potential improvements to the service. The Advisory Group has developed a proposed network model for delivering specialist ACHD care and draft national designation standards that specialist centres would need to meet in the future.

www.specialisedservices.nhs.uk/info/adults-with-congenital-heart-disease

Your views

The NHS Commissioners would now like to hear what you think of these proposed designation standards and the draft model of care.

The information published online include two key documents;

- A publication Adults living with congenital heart disease which provides background to the review and an overview of the proposed improvements (an easy read version is also available)

- The proposed model of care and draft designation standards

To request hard copies of the documents or find out about patient and stakeholder workshops contact the communications team.

This period of public engagement will close on Friday 27th July so please share your views by then. There will be further opportunities to have your say during a public consultation in 2013.

Whether you are a patient, a family member, a clinician or anyone else with a particular interest please share your views.

Details on how you can have your say;

Email; adult@nsscg.nhs.uk

or attend one of the regional workshops for patients and people working with adults with congenital heart disease. To request a publication, or to find out about the workshops contact the communications team; nhsspecialisedservices@grayling.com
Tel 020 7025 7520

The venues are;

19th June Bristol Aquarium

23rd June Manchester Art Gallery

27th June York Barbican

30th June Friends Meeting House, Euston Road

Children's Heart Federation

The Children's Heart Federation would like to hear from young people who are going through transition services.

If you would like to be part of a workshop and fun day and ensure your feedback on the current transition arrangements for patients with congenital heart disease are heard, then please get in touch.

See the link below;
https://www.chf.org.uk

Max Appeal informs ECHDO on 22q learning issues

European Congenital Heart Disease Organisation. 26th-27th May 2012 in Istanbul, Yurkey at the Ramada Plaza Hotel.

Much of ECHDO's work is focused on quality of life issues, and this will be the first opportunity that many of the countries represented will have have had to know about the learning issues assocaited with 22q deletion.

Visit ECHDO web site

The ECHDO annual general meeting will be held in Istanbul, Turkey from 10am Saturday 26th May to 2pm Sunday 27th May 2012. Also the 46th Annual Meeting of the Association for European Paediatric and Congenital Cardiology is being held on the 23rd - 26th May 2012

If you would like Julie to highlight an issue that you feel strongly about in this forum, please get in touch.

If you are interested in attending the event or have something to offer to the meeting then get in touch with Children's Heart Federation
go to CHF web site

International Meeting in Florida

Be there - Or miss out!

The 8th Biennial International 22q11.2 Deletion Syndrome Meeting - From 6th to 10th July 2012

'Detection * Care * Cure – The Magic of Making a Difference'

Located at Disney's Yacht and Beach Club Resorts in Lake Buena Vista, Florida, USA.

You don't get many opportunities like this! Have a fabulous trip to one of USA's top resorts AND get all the latest and best information about 22q deletion...? Do you really need to think about it???

http//:www.22qconference.com

Sci Fi for Max Appeal

Craig Adams does it again!!!!

Hello there fellow members of Max Appeal!!

Craig Adams here. (Doctor Who & SciFi Nut of Hinckley)

Just writting to say a big big thank you for Julie Wootton who came along on Saturday and supported us at The Greatest Show In The Galaxy SciFi Convention at Peterborough's East of England Showground.

It was their first ever Science Fiction Convention & it's gone down really well with no end of fans who visited over the weekend. Their next one is in November 2012.

We met Simon Fisher-Becker (The Blue Man - Dorium) from Series 5/6 of Doctor Who. Also we met Nick Briggs (Voice of the Daleks) from Doctor Who. We didn't really have time to meet any other's because we were busy raising money for Max Appeal & a cheque is in the post to Julie & family.

Our next outing is June 2nd at Collectormania in Milton Keynes. Collectormania's website is: http://www.collectormania.com/miltonkeynes/

To view photo's of Saturday's SciFi Con please click here: http://www.facebook.com/media/set/?set=a.10150897511547372.438618.845322371&type=1

Best Wishes to you all

Regards

Craig Adams
------------

Hi Craig!

We got your cheque today and the fab photo!! A really BIG thank you to you and your family, it was lovely to meet you, your mum (Christine), Dad (Barry) and Uncle (Paul) again.

Your Daleks are just incredible... or as I described them to Hilary "out of this world"... duh!! The detail in fantastic and being able to sit in and move them by remote control is just fabulous.

Hilary was very disappointed that she couldn't meet up with you this time. Archie and I had a great afternoon!!

From Julie

PS Gemma at Collectormania says it's ok to take your Daleks!

Party Time!!

You can rent a Dalek for your party, get in touch with Craig via Max Appeal's facebook group and ask him how you can book up!

Think HEART goes to the House of Commons

Max Appeal represented people with 22q at the programme for Screening and Early Detection forum on Monday 14th May at the The Diana Rooms in Westminster followed by a Parliamentary Reception in the Members Dining Room at the House of Commons.

The Think HEART Campaign is about recognising signs of heart defects in children as early as possible. CHF is also calling for pulse oximetry (oxygen stuartion monitoring) to be added to the Newborn Infant Physcial Examination (NIPE).

Think HEART

The meeting at the Diana Rooms was very well attended (not just for the lovely buffet lunch!) and there was an overwhelming level of support for pulse oximetry to be added to newborn screening.

This has been accepted within the USA and now more than 50% of the states have introduced, or are about to introduce saturations monitoring for new born babies.

The study undertaken in the UK in the West Midlands clearly indicated the efficacy of the monitoring showing how it identified babies with heart defects and respiratory problems such as pneumonia. The monitoring is inexpensive, non-invasive and painless. It invloves a light probe being attached to a baby's foot at a couple of intervals during the neonatal period (fist couple of weeks of life). The amount of oxygen in the blood is a good indicator of health. 100% is great but below 95% should raise serious concerns and trigger further diagnostic investigations. The point is that this should become a national programme within the NHS, so that EVERY baby born in the UK is monitored.

The monitoring will not pick up every baby who has a heart defect, this is called a 'false negative', but it will increase the early detection rates and will save many mums from feeling inadequate because they have a baby that is 'failing to thrive', I think all of us would prefer to have a a further test and be given the all clear than not know at all. There will be 'false positives' for heart defects BUT if saturations are low then there is something untoward that should be found.

Julie Wootton (as chair of trustees for CHF) greeted the invited speakers at the House of Commons after drawing on her own experiences with her son Max, whose story you can read by clicking on "Real People - Tributes".

The speakers were Rt Hon Bob Neill MP (Parliamentary Under Secretary of State DCLG), Rt Hon Andy Burnham MP (show health secretary), Anne Keatley-Clarke (CHF CEO) and parents Alex Smith and Helen Llewellyn.

Help spread the message by putting up a poster in your local GP's surgery, community centre, library, town hall, whatever... get the posters from CHF and then snap a picure for CHF to let let veryone know that Think Heart is spreading..

Click on the picture to see the full size.

email Danny beales at CHF: dannyb@chfed.org.uk

From DLA to PIP

IMPORTANT - Adults (16 to 65 years) Receiving DLA

DLA is currently being reformed and will be replaced with Personal Independence Payments. The Department for Work and Pensions is currently consulting on the specific detailed proposals for these new payments and Max Appeal would like to submit a response on behalf of people with 22q deletion.

This will affect everyone aged 16 – 65 receiving DLA.
DWP - PIP

Please let me have your views and comments by 22 June if you would like them including in Max Appeal's response. You can, of course, respond directly to the government yourself.

PIP will start in October 2013, when letters will begin to arrive, asking people currently receiving DLA if they would like to apply for PIP. You will have 4 weeks to make a claim, but if you do not, the DLA payments will stop. The invitations to apply for PIP will continue until 2016.

People will not automatically be eligible for PIP because they receive DLA – the government expects to reduce the numbers who will receive it. PIP will almost always require the applicant to attend an interview with a healthcare professional, but they can take someone to the interview with them.

Anyone under 16 and over 65 will continue to receive DLA and PIP will be a gateway payment, as DLA currently is.

Please let me have your thoughts and comments by 22 June. Email (click below) or write to "Freepost Max Appeal" (no stamp needed).

Children's Heart Week 14th - 20th May

The Children's Heart Federation has organised a number of events on behalf of members to promote 'Children's Heart Week'.

For further information and contact details, please visit the Children's Heart Federation website at the link below.
www.childrens-heart-fed.org.uk/news/upcoming_events

PGL Activity weekends

HeartLine Association have places available on their activity weekends... click on What's On to see more...

Virgin London Marathon Review

Post run review

Last Sunday I did what I set out to do some 20 weeks ago. I ran the London Marathon in under 4 hours and I raised a lot of money for a very worthwhile charity. The sense of achievement was truly incredible. I don't think I've done anything like that before. Personal achievement has always ranked pretty high in everything I do, but the combination of the two is something special. Here is what happened before the race............

22q at the Zoo

Stories from World wide Awareness Day

Lots of stories and photos about the day are coming through to Max Appeal.

If you would like to share your story about the day, please send it to claire@maxappeal.org.uk and we will try to get some of them on the website or included in our newsletter.

Virgin London Marathon 2012

Running for Max Appeal

Loads of good luck is being sent to our three runners in this year's London Marathon.

Martin, Mark and Ed have done a fantastic job raising money for Max Appeal. They have been training hard, so we will be thinking of them and sending them lots of good wishes for the race tomorrow.

22q at the Zoo

Join us for a fun day at the Zoo

Around 350 people will be attending five venues; Bristol, Chester, Flamingo Land, Edinbrugh and Whipsnade, raising awareness of 22q deletion conditions... on Sunday 22nd April... (of course!) even more people than last year and a great way to meet other families and have a good day out.

Special mention must be made to Bridget James for her generous donation to support families attending the day.

We are also very grateful to Chris Ryan's company Ashgoal for their massive support at Whipsnade which has enabled the largest turn out in the UK at a single venue... possibly the world...

Send your stories, photos and movies to Max Appeal... share your day with the other 22q families.

Visit the Ashgoal IT web site

Close on 350 people and more than half will be wearing the red awareness day t-shirts with this logo on the front, similar design to last year as supplied by the International 22q Foundation and worn by people all over the world!! Find out more about it on Facebook.

Thanks for the support of the local organisers for each of the venues: Nat Cook, Jayne Rostron, Martin Kennedy, Sarah Goodyear, and Chris and Sarah Ryan.

International 22q Foundation

Children with 22q deletion given grant from Jeans for Genes Day 2012

Celebrations at Max Appeal

Max Appeal is popping the champagne after receiving a grant of £12,000 from Genetic Disorders UK, the national charity that organises Jeans for Genes Day.

Julie Wootton Chair of Trustees for Max Appeal said: 'This grant is wonderful news. It means we can progress with our project to roll out our Consensus Document that provides information for medics and families on the diagnosis and life-long care pathway.
The other big thing about Jeans for Genes is the awareness in schools and work places about Max Appeal, which presents us with a wonderful opportunity to raise awareness of 22q deletion.'

Caroline Harding, the CEO of Genetic Disorders UK said: 'We are delighted to be helping Max Appeal support children with the conditions caused by 22q deletion. Our grant programme is open to all UK support groups and registered charities who work to improve the lives of children and families affected by genetic disorders. In 2012, 24 charities will benefit from the funds raised by the public on Jeans for Genes Day.'

About Jeans for Genes and Genetic Disorders UK

Genetic Disorders UK is the national charity that organises the annual Jeans for Genes Day fundraising event when school children and office workers wear their jeans in exchange for a donation to the charity. Although individually genetic disorders are rare, together they affect 1 in 25 children. This means that more than 30,000 babies each year are born in the UK with a genetic condition. Sadly, genetic disorders are the biggest cause of death of children aged 14 years and under. Funds from Jeans for Genes Day are granted to specialised charities to provide care and support for children affected by genetic disorders. This year Jeans for Genes Day will be held on Friday 5th October.

Cardiff University Behaviour Study

VOLUNTEERS (Aged 6 -17 years) NEEDED FOR CHILDREN'S STUDY

Children with VCFS can experience learning difficulties. They may also experience behavioural problems at home and in school and may find it more difficult to make friends. Sometimes, their thinking and speech may be difficult to follow or may seem unusual to others. It is not clear at the moment to what extent children with VCFS are at risk for these problems.

Researchers also don't know to what extent the genetic deletion plays a role in the behavioural and thought problems some children with VCFS experience. It is possible that the learning difficulties that children with VCFS can have contribute to their risk of behavioural and thought problems. However, if and to what extent they do is not understood.

VCFS is short for Velo-Cardio-Facial Syndrome. VCFS is a medical condition which is caused by the deletion of a small part of one of a person¡¦s two chromosomes 22. The deletion occurs on the longer arm (or Q arm) of the two arms of this chromosome 22. Another name for VCFS is therefore 22Q11 Deletion Syndrome (or 22Q11DS). VCFS is sometimes also referred to as DiGeorge syndrome, particularly when children have heart problems.

Understanding more about the relations between learning, behavioural and thought problems in children with VCFS may lead to more effective methods of treatment and prevention, thus improving the lives of children and families affected by this disorder.
The study has ethical approval and is conducted by University Hospital Cardiff. Dr. Marianne van den Bree is the principal investigator.
Participation involves:
„X Assessment of the child¡¦s symptoms via clinical interview with the parent.
„X Short interview with the child about how they experience themselves and others.
„X Assessment of the child¡¦s cognitive ability. This involves completing a number of puzzles.
„X Blood or saliva sample from the parents and the child for DNA extraction
Participation in this project is entirely voluntary. All participating families will be reimbursed for their time. All information gained from the study will be confidential. You are free to withdraw from the study at any stage.

If participating families like to, we can provide their clinician with the information gathered in the study and this may be helpful for treatment. We hope that the project will provide greater insights into the development of 22Q11DS and this may in turn contribute to the development of new treatment strategies in the future.
Your family may be eligible for the study if:
„X You have a child who is 6-17 years who has been diagnosed with VCFS.

If your child has a sibling who does not have VCFS we would also ask them to take part. However, families of children with VCFS who do not have a sibling can still take part.

For more information please contact:
Hayley on: 029 2074 4002
E-mail: echo@cardiff.ac.uk

Dr Marianne van den Bree,
ECHO Study
Institute of Psychological Medicine & Clinical Neurosciences,
MRC Centre for Neuropsychiatric Genetics and Genomics,
Cardiff University,
First Floor Neuadd Meirionydd
University Hospital of Wales
CARDIFF
CF14 4YS

Super Hero Fun Run

Fun Run

Max Appeal has some places available for the Superhero Fun Run, on the 13th May 2012 in Regent's Park, London.

It's being organised by Doitforcharity.com

No previous experience is required, you can run, jog or walk and either opt for 5km or 10km distance. Over 2000 people are expected to take part for hundreds of different charities.

You even get a free Superman outfit to wear! The spirit of the event is ' taking part' not 'winning'!

All you need to do is pledge to raise £100 for Max Appeal. Then reserve your place by requesting a registration form from claire@maxappeal.org.uk. or alternatively they can register online at www.doitforcharity.com

We're counting on your support!

https://www.doitforcharity.com

Pair skydive for Max Appeal

Russ and Gary skydive

We were pleased to hear from Russ and Gary when they got in touch and said that they would like to raise funds for Max Appeal by taking part in a tandem skydive.

Everything was set up for the jump at Durham Airfield and the pair were soon busy, asking friends and family to support them.

The jump took place on Saturday and as you can see it was a scary prospect, - jumping from an airplane from 12000 feet!

Safely landed!

Russ comments 'Gary and myself are new converts now, with Gary considering doing another tandem jump in the future.

For me it was a fantastic experience and I now want to go on and achieve a solo jump myself as I found it such an incredible feeling jumping out of a plane at 12000 feet and freefalling at 120mph'.

Great Effort

Many thanks to Russ and Gary for being brave and completing the skydive for Max Appeal.

We hope they will raise lots of funds for Max Appeal which will help families affected by 22q DS.

It's not too late to sponsor them, just visit;

http://www.justgiving.com/Russ-Parry

If you would like to consider a challenge to raise funds for Max Appeal, please contact claire@maxappeal.org.uk

Growth Charts

Download the full set on pdf. This work is collaborative effort between Great Ormond Street Hospital and Children's Hospital of Philadelphia.
Growth Charts

USA Newborn Screening Project

Breaking new ground!!

The meeting on 26th of January in Washingtom DC, with the US Secretary of Health's Committee on Heritable Disorders and Newborn gave a collaborative group, with representatives from The Children's Hospital of Philadelphia, The University of Toronto, The International 22q Foundation, Max Appeal, Children's Hospital of Wisconsin, and The Ryan and Jenny Dempster Foundation, the opportunity to present a case for adding 22q11.2 syndromes to the list of already mandated list of conditions screened for in newborn babies.

Click on the photo to see everyone!

From left to right: Michelle Breedlove Sells (Dempster Foundation) Jack Routes (Children's Hospital of Wisconsin) Carol Cavana (International 22q Foundation)Donna McDonald-Mcginn (Children's Hospital of Philadelphia) Anne Basset (University of Toronto) Julie Wootton (max Appeal) Sheila Kambin (parent) Aoy Mitchell (Children's Hospital of Wisconsin) - missing is Stu Berger from Children's Hospital of Wisconsin

It was interesting (or should that be disappointing) that the group's presentation was scheduled to heard after the decision to reject the proposal had been voted on! Fortunately the agenda was changed and very happily a strong presentation led to the panel agreeing to re-hear the proposal with pilot study data.

The argument for NOT screening for 22q11.2 was that all newborns would be picked up by cardiac and immunity screening because the USA has just started monitoring saturations by pulse-oximetry (that picks up cyanotic or 'blue babies') and SCID, (severe combined immuno-deficiency) in newborn babies.

This was robustly challenged because the documents the committee was referred to were out of date, by a decade or so in some cases, and did not consider many other aspects of the condition, such as chronic calcium deficiency which, undiagnosed, can have catastrophic consequences, and cardiac conditions such as interrupted aortic arch which is common in 22q. Further all those children who have issues such as feeding, failure to thrive, developmental delay, speech and language, co-ordination and learning problems (just to mention a few!) are frequently diagnosed very late or not at all, thus depriving them of appropriate early interventions and not least a reason for those problems. Also the issue of prevalence would be addressed, which is always hotly debated but the latest numbers in Philadelphia could be higher than 1 in 400, which would make 22q11.2 more common than Down's!!!

Should 22q11.2 screening be taken up by the USA then we have a much stronger voice to try to make it happen in the UK too.

The essential pilot study needs to be up and running pretty quickly to keep the ball rolling. Please get in touch if you'd like to know more about this project or would like to contribute funds for the pilot study.

NB when dining out with Donna from CHOP, be warned if she says "Hey, try an oyster shooter, you'll lov 'em!"

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