Australia and New Zealand for families meeting handout

22q11.2 DS Family Meeting

Kindly provided by Donna McDonald-Mcginn.
Nov 2018
SJ

Spanish 22q11.2DS Meeting

Facultad de Medicina recibe a familias y pacientes con Síndrome de Deleción 22q11 - Centro de Genética y Genómica

Provided by Gabriela Repetto
November 2018
SJ
medicina.udd.cl/centro-genetica-genomica/noticias/2018/11/19/facultad-de-medicina-recibe-a-familias-y-pacientes-con-sindrome-de-delecion-22q11/ Right Arrow

Members Meet up Normanby Hall Country Park, Sunday 16 December 2018


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Meet up for 22q11 family and friends at Normanby Hall Country Park.
11.00am .

Get together for 22q11 families and friends. Please see Max Appeal closed Facebook group for further details.

Stevenage Family Meet up Golf, Sunday 09 December 2018


Image: mulligan-logo-blue[1]_medium.png
Meet at 3.00pm.
Mr Mulligans Stevenage
Stevenage Leisure Park, Gunnels Wood Rd, Stevenage SG1 2UA

https://mrmulligan.com/stevenage/

Meet up Sealife Centre Birmingham, Saturday 09 February 2019


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Max Appeal members outing to Sealife Centre Birmingham.

Great North Run 2019, Sunday 08 September 2019

You know you want to !!

GNR 2018
Max Appeal are pleased to report that we have been successful in securing a Bronze + Charity package for the 2019 event to be held on Sunday 8th September.
We have 35 places to fill !
Please email Paul@maxappeal.org.uk to register your interest.

22q11 Awareness Day, Thursday 22 November 2018

The hidden cost of 22q11

header logo
Max Appeal highlights the need for early diagnosis
and releases new film to mark awareness day.

Thursday 22 November 2018 marks the awareness day for the genetic syndrome 22q11. It is estimated that a staggering 98% of cases in the UK are undiagnosed. Delays in diagnosis not only has an adverse affect on the child and their family, it is also a hidden cost for the NHS, social services and welfare state.

Julie Wootton, Founder of Max Appeal, in memory of her son Max said:
'22q 11 affects thousands of children every year but is massively misdiagnosed. Too many children are being failed and we see parents becoming the 'experts'. Early diagnosis is pivotal to how children adapt to adulthood and achieve good outcomes. We are currently working with David Duguid MP and Chair of the All Parliamentary Group on 22q11 to seek the introduction of routine screening for 22q11.'

David Duguid MP said:
'I have been calling for the screening of this condition to be offered to all parents so there is a better chance of catching it earlier and implementing appropriate treatment. 22q11 screening can be incorporated into tests that already exist, such as heel prick tests that are given to new born babies. This ensures the right diagnosis and the right kind of care can be given.'

To encourage wider awareness and understanding of 22q11, Max Appeal has released a video for GP's and medical students which includes guidance from top experts on how to spot the syndrome.

View here:




https://www.youtube.com/watch?v=sS91TvxGmrI&t=43s Right Arrow

Genetics Alliance CONCORD (CoOrdiNated Care Of Rare Disease)

NEW RESEARCH: HOW CARE SHOULD BE COORDINATED FOR RARE DISEASES

Genetics Alliance
Genetics Alliance are currently recruiting patients, carers and health care professionals to take part in focus groups to develop our understanding of the information that is already available about coordinated care for rare diseases. The findings of the focus groups will inform the development of a survey which will be sent to patients, carers and health care professionals later in the study.
https://www.geneticalliance.org.uk/news-event/new-research-how-care-should-be-coordinated-for-rare-diseases/?mc_cid=6fdf220cf8&mc_eid=5a165415c1 Right Arrow

Eurodis Photo Award 2019

Submissions are now open

Eurodis 2018
The EURORDIS Photo Award is an opportunity to visually express what it means to live with a rare disease, exploring its many aspects and to share your story with the rare disease community. Open to everybody around the world, last year saw nearly 400 people from more than 50 different countries submitting a photo, with each reflecting the drive of people living with a rare disease worldwide.
https://blackpearl.eurordis.org/eurordis-photo-award-2019/ Right Arrow

Gemma Keir - Chat Magazine Article

Mum Knows Best...

Gemma Keir Logan
Mum to Logan, Gemma Keir, raising 22q awareness in Chat Magazine. Nov 2018

22q11 Awareness month, Thursday 01 November 2018

November is the special month to raise awareness of 22q11 Deletion Syndrome.

Normanby Hall Country Park 22q Family Dayout, Sunday 28 October 2018

All welcome...

Normanby Hall
22q Families are invited to a Family day at Normanby Hall on the 28th October.
Please email us at info@maxappeal.org.uk for more information.

22q Foundation Australia & New Zealand

Conference Presentations 2018

22q australia
Link below are presentations and resources from conferences held in Sydney (26th August 2018) and Auckland (1st September 2018).


https://www.22q.org.au/conference-presentations-2018 Right Arrow

Shepreth 22q Family Meetup

18th August 2018

Gemma Keir Logan
We had the most wonderful day at Shepreth Wildlife Park. Getting the chance to meet other families going through the same as us means so much. You didn't feel out of place. The children enjoyed the animals and playing in the park. It was overall a great day out and we are sure to join future events with Max Appeal.

Cannon Hall Farm 22q Family Meetup

16th August 2018

Cannon Hall farm
Thank you Lisa for arranging this lovely 22q family meetup.

"I travelled from Grimsby to Cannon Hall Farm near Barnsley with my three young children for the Max Appeal meet up in August organised by Lisa Franklin. I thought it sounded like a great day out for the summer holidays and wasn't disappointed. Set in a beautiful park with a stately home, we were able to enter the farm for a heavily discounted fee due to it being a charity event. Lisa was friendly and welcoming as usual, we had an indoor picnic and a catch up then went to the soft play centre for a coffee and chat while the children played. We then went on the adventure playgrounds, the tube maze, the rope park and looked around the animals (including the very smelly piglets!) we stayed longer than I had planned as everyone was having such a good time." - Clover Swale
Cannon Hall farm

Max Appeal Ramblers 2018

On Saturday 21st July the Max Appeal Ramblers took on the challenge of climbing Snowdon,

ready to start
once again whilst most had enjoyed a sensible quiet evening yours truly had slightly over indulged.
Upon arrival we knew the promised sun shine was not going to materialise we were surrounded by mist, in hindsight this helped a few in the group who when it came to climbing the higher peaks as we couldn't see just how high we were.
Snowdon Awareness
Our guide Martin had decided we would tackle the Pyg route which is one of the more challenging routes up to the peak and would include some scrambling, it was therefore important that team work was the order of the day and I have to say that once again it was fantastic with everybody supporting each other and ensuring we all reached the top safely.

Within the group we had some taking on their first ever climb and it was amazing watching how the group interacted to ensure that those with experience were able to guide others. Special mention must go to both Martin Barter (our guide) and Aaron Grounsell who must have climbed the mountain twice as they went backwards and forth helping us all through the more challenging parts
Snowdon Lisa Franklin
This year we were joined by some colleagues both from the railway and from a previous life, this meant that the talk wasn't just about 22q11 life but all had a sympathetic ear and showed genuine interest in the struggles we go through as families, I must thank all my colleagues who took part as they had no bond with Max Appeal or 22q11 yet still risked injury or worse by taking on the climb.
Snowdon Group
Every single walker reached the summit and whilst we may have all walked the same trail we all took different paths in life to get there, friendships and bonds were made that will last a lifetime and this for me is one of the best features of walks like this as it provides families opportunities to meet and form bonds, its these bonds that are needed to help support all those with '22q11'.
Snowdon Summit
No Max Appeal Ramble would be complete without a hearty meal and this year was no different, Saturday evening was spent in the hotel restaurant finishing the day of as we had started as a group of parents from different back grounds coming together to enjoy each other's company, it was fair to say some quantity of alcohol was drunk and this was put to great use at the disco afterwards.

Please keep an eye out for details of the rambles planned in 2019 as the event continues to grow in popularity, in particular we intend to tackle our highest challenge yet !!!!!!

Mark Tripp
Max Appeal Rambler and Trustee
Snowdon Debbie and chris
Ps Whilst everyone deserves a mention I must pay a special tribute to the guts and determination shown by both Chris and Debbie Payne to reach the summit, if ever I need a reminder of the fighting spirit and determination of a 22q11 parent then I will remember the courage they both showed

Max Appeal Express Pin Badges

Now available to buy... Limited Edition

Pin badges
We are pleased to offer these commemorative 'Max Appeal Express' Pin badges for sale.



https://www.ebay.co.uk/itm/173534596329 Right Arrow
Since its launch in July 2014 a class 365 unit 365533 has proudly displayed our livery helping to bring awareness of 22q11 to passengers along the Great Northern train route.
Sadly earlier this year our train was removed from passenger service and 100 of these unique badges have been produced to help celebrate and remember the great service it provided.

Pin badges cost £7 inc postage and can be ordered direct from our ebay selling page

(Sept18)

22q Family Day at Scarborough Beach 2018

15th July 2018

Beach day 2018
Just got back from the annual Beach Day meet up on Scarborough Beach. An excellent turn out of old friends and new on a beautiful day in sunny Scarborough. The best one yet!

This is a fantastic family fun day that is organised every year.
Amanda Burgoyne - "We've had a lovely day thank you so much Max Appeal and Martin Kennedy for organising and to 26digital for lunch.

Lovely to actually meet people I feel like I've known for years even though I'd never met them

Ellie said she's had a lovely time and really glad we came xx"

Amazon Smile

Amazon Smile - Charitable Donation

Amazon
How does AmazonSmile work?
When first visiting smile.amazon.co.uk, customers are prompted to select a charitable organisation. Amazon will give 0.5% of the net purchase price (excluding VAT and other shipping fees) of eligible AmazonSmile purchases to the charitable organisations selected by our customers
About AmazonSmile

What is AmazonSmile?
AmazonSmile is a simple and automatic way for you to support a charity of your choice every time you shop, at no cost to you. When you shop at smile.amazon.co.uk, you'll find the exact same low prices, vast selection and convenient shopping experience as amazon.co.uk, with the added bonus that Amazon will donate a portion of the purchase price to your selected charity.

How do I shop at AmazonSmile?
To shop at AmazonSmile simply go to smile.amazon.co.uk from the web browser on your computer or mobile device. You may also want to add a bookmark to smile.amazon.co.uk to make it even easier to return and start your shopping at AmazonSmile.

(Sept 18)

Marwell Zoo 22q Family Meetup, Sunday 16 September 2018

Max Appeal 22q Family Meet up at Marwell Zoo

Marwell logo
22q Family Meetup at Marwell zoo on the 16th September.

Click below for further details.

How Far Will You Go For 22q?

Virtual Race for 22q

Medal
The month of November is important on the 22q11 calendar as it's awareness month so here at Max Appeal we are inviting members, families and friends to take part in our virtual race, not only will you be helping to create awareness but also working towards your very own reward medal.
So whether you have 22q11 or simply love someone who has the condition strap on your trainers or walking boots and join in, see how far you can go for 22q11 !!!

What is a virtual race?

A virtual race is a race that can be run, walked, cycled or swum from any location you choose. You can take part on the road, on the trail, on the treadmill, at the gym on the track, in the swimming pool or even whilst walking the dog. You get to race at your own pace and time to suit. All you need to do is record your distances

How do I record my distance?

There are many phone and watch apps which can do this for you, simply take a screen shot from your fitbit, Map my walk, Strava etc and send them in at the end of November. If using a treadmill photographing the screen will work just as well.
Many apps are free to download and easy to operate, if you need advice then please ask us or speak to family and friends who can show you how to download them for free.

How far?

We understand our members have different fitness levels and so the distance you choose is up to you, all we ask is that you choose the magic numbers 22 or 11 and let us know how far you intend to travel for 22q11
As an example you could choose 11 miles or 11 Km, you could choose 22 miles or 22 Km, you could decide to do a combination and tackle 11 miles in 22 days, the choice is yours and you have plenty of time to complete the challenge
Challenge your friends and family to see just how far or how quick they can go to help raise awareness
Remember to keep your target achievable and that you have the entire month of November to complete it in

Costs?

To enter our virtual race you will need to make a donation to Max Appeal, £10 for Adults and £5 for16 & under, at the end of November and once you have completed your target you will be sent a medal for you to proudly wear

Booking form:

Sponsorship

There is no requirement for anyone to collect sponsorship monies but if you decide you would like to go that extra mile then please let us know and we can provide you with sponsorship forms, alternatively you can set up a justgiving page.

Can we race in groups?

What a wonderful idea, why not connect with other members and volunteer to meet up for walks or runs in your local area, the virtual race could be your opportunity to meet others in your area, if you are interesting in arranging a meet up then please let us know and we can help you advertise it.
Just think a walk in the park could lead to not only a medal but also lifelong friendships and new support networks

How do I sign up?

Absolutely anyone can join the Max Appeal Virtual race from friends, families, class mates to work colleagues, simply ask them to email Info@maxappeal.org.uk and we will send out all the information needed.

T-shirts

T Shirt
If you want to make a visual impact whilst completing your challenge then why not wear one of our amazing t-shirts, simply head to our ebay store and purchase one today.
https://www.ebay.co.uk/itm/173369816051?var=&ssPageName=STRK:MESELX:IT&_trksid=p3984.m1555.l2649 Right Arrow

Equinox24 Run, Saturday 22 September 2018


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A group of work mates from the Jaguar Landrover Whitley Engineering Centre are taking part in the Equinox24 run and raising funds for Max Appeal and awareness of 22q11 Deletion Syndrome.

Show of Hands family concert Abbotsbury 2018., Saturday 07 July 2018

SUMMER FAMILY CONCERT AT ABBOTSBURY SUBTROPICAL GARDENS

show of hands
Come and see show of hands and friends.

ACCESS TO GARDENS FROM 10AM, ARENA OPEN 1:30PM, MUSIC STARTS 3PM AND THE EVENT RUNS UNTIL 9.00PM

Link below to purchase tickets.
abbotsbury-tourism.co.uk/gardens/events/a-show-of-hands/ Right Arrow

Max Appeal Ezine July 2018

Catch up on all the latest 22q News

header logo
Max Appeal Ezine July 2018

Baby’s heart condition detected through new born screening

Southern Health and Social Health Trust June 2018

heart detected
A local family have praised Daisy Hill Hospital's paediatric team's innovative screening programme following the detection of a major heart condition in their new born baby girl.

After a very normal pregnancy and delivery on 25th April, Katie Dinsmore and partner Alan were getting ready to take baby Dáire home to her big sister Brooke the next day when a final routine screening test showed she actually had a very serious heart condition, (Transposition of the Great Arteries – TGA).

Daisy Hill is currently the only hospital in Northern Ireland to use the new born heart screening test known as Pulse Oximetry.

Baby Dáire was rushed to Dublin to have keyhole surgery that same day at Our Lady's Children's Hospital, followed by open heart surgery the next day.

Katie, from Burren outside Newry says: 'It was an absolute shock to find out that our beautiful baby who appeared so healthy had such a serious heart complication but we are so lucky that the paediatric team use this test. We could have been away home and who knows what could have happened her at a later stage. The surgery Dáire had in Dublin should stand by her now, she may need further treatment in the future, but at least we now are aware of the risks and can keep a close eye on her.'

The paediatric team along with their maternity colleagues undertake the routine oxygen saturation test for all babies before they are discharged home as Dr Bassam Aljarad, Southern Trust Associate Medical Director for Children and Young People, who introduced the screening programme explains: 'Congenital heart disease (CHD) is a general term for a range of birth defects that affect the normal workings of the heart. It is one of the most common types of birth defect, affecting up to 9 in every 1,000 babies born in the UK. Nearly 50% of babies born with a CHD appear healthy at first without any noticeable symptoms and may be discharged, for their health to deteriorate, days or sometimes a few months later.

'More timely detection helps us to identify more babies with CHD at a much earlier stage, ensuring that we can keep them monitored and give them the treatment they need to prevent greater health consequences, disability or in the worse cases premature death. Along with our standard clinical examination, this additional very simple screening test, which only takes a few minutes greatly increases the accuracy in diagnosing CHD.'

Irwyn McKibbin, Chairman of Heartbeat NI which funded the screening equipment says: 'While CHD may only be detected in one or two babies each year through screening, the difference from screening can be life changing for that small number of families. Without such a proactive approach by the paediatric team, the outcome for baby Dáire could have been very different.

'I would appeal to all hospitals to make pulse oximetry testing as a mandatory check on newborns. It is vitally important that babies with a heart defect are diagnosed as soon as possible and treated as a matter of urgency. I would like to congratulate the staff at Daisy Hill for not only undertaking what was initially a pilot study, but for persisting with it once the trial period expired. I am delighted for Katie and Alan that Dáire is doing so well and that Heartbeat NI played a small part in this good news story.'

The Southern Trust is now exploring the potential of introducing the test to Craigavon Area Hospital also.


For further information contact Paula McKeown
Communications Manager Tel: 028 3756 0012

Landmark moment for Stourbridge family's screening plea

Stourbridge News


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A STOURBRIDGE family's near 20-year quest to raise awareness of a little-known genetic disorder has enjoyed a huge breakthrough in Parliament.

Wollaston couple Paul and Julie Wootton lost their son Max, aged just four months, to the rare Di George Syndrome condition in 1999.

They set up the Max Appeal charity in his memory and have been campaigning for a screening programme to catch the condition – also known as 22q11.2DS – in the days after birth.


www.stourbridgenews.co.uk/news/16291627.Landmark_moment_for_Stourbridge_family__39_s_screening_plea/ Right Arrow
Scottish MP David Duguid has taken up their case and last week proposed a members bill in Parliament for 22q11 to be added to the blood spot tests offered to all babies at five days old.


The 10-minute motion received unanimous support and has advanced to a second reading in October, much to the Wootton's delight.

Julie said: 'Max Appeal hopes the Bill will be successful and help to provide early detection and treatment to the second most common chromosomal syndrome (after Down's) which affects thousands of children every year.

'The screening could be done by using heel prick tests that are given to babies and used for screening of Severe Combined Immunodeficiency (SCID), which is currently being trialled in the UK.

'Currently, nine rare but serious health conditions are tested for in the heel prick test and by including 22q11 it would only add a small cost to the test.'


Mr Duguid MP – who chairs the 22q11 All-Party Parliamentary Group (APPG) – callesd for the Secretary of State for Health and Social Care to conduct a review into the condition.

The Conservative MP also called for the NHS to publish a strategy once the work is complete.

Prior to his Parliament address, Mr Duguid had said: 'I am calling for the introduction of a screening programme so there is a better chance of catching the rare genetic disease (in time).

'At present it's only detected when another symptom prompts doctors to examine people in more detail. This approach cannot be relied upon.



'22q screening can be incorporated into tests that already exist, such as heel prick tests that are given to newborn babies.

'This ensures the right diagnosis and the right kind of care can be given. By proposing this Bill, I hope to raise awareness of this condition and ensure a review takes place in the hope of bringing in routine screening.'

Mrs Wootton added: '22q11 is frequently misdiagnosed. We know that delays in diagnosis not only have adverse effects on the child and family but also treatment costs for the NHS are likely to be less efficient in the long term.'

The effects of 22q11 are wide-ranging, including congenital heart disease, defects of the palate, learning difficulties, muscular and spinal problems and poor immune systems.


Mr Duguid was made aware of 22q11 through a constituent and has since worked closely with Max Appeal and the APPG on the issue.

Ten Minute Motion Bill in Westminster for 22q11 Syndrome, on Tuesday 5th June, 2018.


Image: raising_private_members_bill_247850544_medium.jpg
We were all thrilled at Max Appeal when we heard David Duguid MP, Chair of the 22q11 All Party Parliamentary Group (APPG) had secured time in the parliamentary timetable to raise a Private Members Bill on 22q11 Syndrome.

The aim is to include 22q11 in the genetic conditions tested for in the 'new born infant screening blood spot test' for all babies at five days old. He also the Department of Health to conduct a review and publish a strategy for 22q11.

If you have not yet seen his speech, you can view it here

Share the link with as many family and friends as possible to help raise awareness of 22q11.


https://www.youtube.com/watch?v=z2abe9zC3rY&app=desktop Right Arrow
The date for the next meeting of the 22q11 APPG is on Tuesday 26th June, between 3.00 - 5.00pm at Westminster, where we hope to move forward with the preparations required for the second reading of the Bill on 26th October, 2018.


What can members do to support this work?

Please contact your own MP and ask them to support David Duguid MP's Bill on 22q11 Syndrome and join the 22q11 APPG. Further details are on the Max Appeal website and an example of a letter which you can adjust to meet your requirements when writing to your MP.


22q At the Zoo 2018

Whipsnade Zoo

Group
Dear Max Appeal members, we had a lovely day at Whipsnade Zoo this year, raising awareness of 22q with our joint enthusiasm, with some of us wearing the new Max Appeal t-shirts, some people in previous years t-shirts, some people in their own wonderful creations and some people just along for the fun, as one big 22q family where we are all welcomed. There was a lovely mixture of old friends and new, both adults, young people and children seemed to enjoy the occasion. We loved the bird display.

Other Max Appeal families visited other zoo's such as Marwell, Five Sisters, Chester and lots of local zoos too. Thanks Max Appeal for the continued support and opportunities to meet our ever extending family.
Clare Mcpherson
Best Friends at Whipsnade
Mark Tripp Adam
Adam at Whipsnade, enjoying the slide.
Debbie P Hannah
Hannah & Family at Whipsnade

Yorkshire Zoo

Yorkshire
There was also a small gathering that headed to Yorkshire Zoo. Looks like they have a wonderful time.

Thank you Lisa Franklin for organising.

Five Sisters Zoo

Lucy Duncan Matthew
Matthew & Emma at Five Sisters Zoo
Louise Henderson Alfie
Paige, Louise and Alfie at Five Sisters Zoo

Chester Zoo

Hannah Chapman
Isaiah, at Chester zoo

Marwell Zoo

Marwell Lauren
A small gathering at Marwell Zoo arranged by Lauren Freitas.

Thank you Lauren for organising this.

Max Appeal Annual General Meeting held at Cranham Camp 28th May 2018


Due to the numbers attending camp we were able to form a quorate, all motions were passed with Julie and Paul Wootton being re-elected as Chair and treasurer respectively along with Rachel Boyle who retains the her role as secretary. Congratulations to all three.

Two new trustees were also elected and Max Appeal warmly welcomes both Tracey Hennighan and Maria Rogdaki onto the board of trustees, Maria brings professional expertise from the world of mental health and Tracey brings with her expertise as a child care practitioner and also a parent of a teenage 22qer.

Members were also updated with regards to imminent happenings regarding the 22Q11 APPG group along with discussions regarding Max Appeal's finances and plans for the year.

Many thanks to all members who participated in the AGM, these meetings are an important opportunity for the board to listen to our members priorities.

Mark Tripp
Trustee

Cranham 2018

Isobel and Trustee Mark Tripp raise the Max Appeal flag at the start of Cranham 2018
Once again Max Appeal Families from across the country met at the Cranham Scout Centre for the start of our annual Youth Camp. With a mixture of indoor bunks and campsite we were once again able to cater for all and for those who needed something a little bit more extreme such as my fellow trustee Martin Kennedy there is always a handy Premier Inn situated 5 minutes away.

"Isobel and Trustee Mark Tripp raise the Max Appeal flag at the start of Cranham 2018"
tent village
This year saw an increase in families camping outdoors and this always proves to be a good icebreaker for debutants as we all muck in together as a group and help erect the tents in a timely fashion so that the entertainment can begin.

After a welcome dinner cooked by the wonderful Shelley Turpin who must have a special mention for running the kitchen all weekend and ensuring families were well fed, Thank you Shelley as the weekend can't run without the kind of support you provided the children sat down to watch a movie whilst the adults gathered together for catch up chat.

"Small selection of our tented village"
Clare axe
The Saturday began with a hearty cooked breakfast before we dispersed in groups around the site to take place in the activities, this year the kids took part in grass sledging, archery, rifle shooting, wall climbing and also a new activity of Axe throwing which turned out to be so successful more sessions had to be laid in so that the parents could take part as well. It was noted that a 22q11 warrior's mum should never be upset as they all proved to be exceptional with an axe in their hands

"Clare showing her skills with the Axes"

Daniel Archery
Young Daniel being taught Archery
Joshua Axe
Joshua showing his Axe throwing skills
arts and crafts
Saturday afternoon saw a change in activities with a special baking and craft session taking place as we were hosting our very own 'Have a Brew for 22q' event on the Sunday, the various cakes, cookies and muffins made were amazing as were the special decorative mugs and T-shirts that were also produced.

Saturday evening saw us hold a BBQ around the camp fire, this year we also held our AGM before Simon Lonsdale led us all in a traditional camp fire sing song which proved as popular as ever as did the toasted marsh mellows that followed.

Sunday morning once again started with a hearty cooked breakfast before we started the day's activities with dam building in the river and generally soaking every adult within splashing distance.

The afternoon saw us host our very own 'Have a brew for 22q' event where vast amounts of cakes where eaten and large quantities of tea consumed. We showed how easy it can be to host an event and how all the family can participate, if any member would like more advice on hosting their own event please email us at info@maxappeal.org.uk

After all that cake young Ryan hosted a junior disco in the hall whilst the now bloated adults once again came together for a chat and exchanged stories both good and bad whilst we reflected on the difference in our children in just one weekend.

The evening was completed with Simon and Caroline Lonsdale holding a family quiz where I was horrified to know the answer to the Justin Beiber based question

Whilst being an extremely busy weekend it was once again a huge success and the proof of this is seeing the tears on the Monday when families had to say goodbye to each other, hearing young Thomas describe the week end 'as the best thing ever' makes all the hard work extra pleasurable and all at Max Appeal look forward to Cranham 2019. We are also looking into taking the camp on tour in 2019 and we hope to host an event in Scotland next year along with some one day activities around the country so please keep an eye out in January for dates for your diary.

Finally I must thank Simon and Caroline Lonsdale, Claire Hennessey, Guy and Moylesy for once again putting together a fabulous weekend, a special thank you must also go to all the families who attended for working together as one big family to ensure all the jobs got done and that we left the site as we found it.

AGM 2018

Due to the numbers attending camp we were able to form a quorate, all motions were passed with Julie and Paul Wootton being re-elected as Chair and treasurer respectively along with Rachel Boyle who retains the her role as secretary. Congratulations to all three.

Two new trustees were also elected and Max Appeal warmly welcomes both Tracey Hennighan and Maria Rogdaki onto the board of trustees, Maria brings professional expertise from the world of mental health and Tracey brings with her expertise as a child care practitioner and also a parent of a teenage 22qer.

Members were also updated with regards to imminent happenings regarding the 22Q11 APPG group along with discussions regarding Max Appeal's finances and plans for the year.

Many thanks to all members who participated in the AGM, these meetings are an important opportunity for the board to listen to our members priorities.

Mark Tripp
Trustee

Shepreth Wildlife Park 22q Family Meetup, Sunday 05 August 2018

shepreth
Max Appeal families are cordially invited to join us on Sunday 5th August at Shepreth Wildlife Park in Cambridge to enjoy a family day out and to celebrate, bid a fond farewell to the Max Appeal Express.

The Max Appeal Express

train
It is with great sadness that we inform members that our beloved train 'The Max Appeal Express' was withdrawn from service in February of this year.

Unfortunately we were not informed before her removal from service so we didn't have an opportunity to say good bye to our special train which had become such a massive awareness raiser for both Max Appeal and 22q11 and was a huge hit across the globe with all our sister 22q11 organisations.

Whilst we are deeply disappointed that the train will no longer be seen in public the board of trustees will be forever grateful for the opportunity given to us to promote our charity and raise public awareness of 22q11. We once again thank everyone involved who helped with bringing the Max Appeal Express into existence.

Max Appeal families are cordially invited to join us on Sunday 5th August at Shepreth Wildlife Park in Cambridge to enjoy a family day out and to celebrate, bid a fond farewell to the Max Appeal Express.
On behalf of the Board of Trustees

Shuttleworth 22q Family Meet up, Sunday 26 August 2018

Shutteworth18
Mark and Kelly Tripp would like to invite you all to a day at Shuttleworth Air Museum on Sunday 26th August, it is situated approximately 2 mins from the Biggleswade junction of the A1m in Bedfordshire.

Raising Private Members Bill, House of Commons, Tuesday 05 June 2018

HofC logo
Max Appeal supports David Duguid MP (and Chair of the 22q11 All Party Parliamentary Group (APPG)) Ten Minute Rule Bill where he called for the Secretary of State for Health and Social Care to conduct a review into 22q11 Deletion Syndrome (also known as Di George Syndrome) and for the NHS to publish a strategy once that work is complete.

Screening using the Infant heel prick test.


Image: raising_private_members_bill_247850544_medium.jpg
This screening could be done by using heel prick tests that are given to five-day old babies and used for screening of Severe Combined Immunodeficiency (SCID) which is currently being trialled in the UK. Currently, nine rare but serious health conditions are tested for in the heel prick test and by including 22q11 it would only add a small cost to the test.

Max Appeal hopes the Bill will be successful and help to provide early detection and treatment to the second most common chromosomal syndrome which affects thousands of children every year but is frequently misdiagnosed or completely missed.

News Release

News release.

Health care provision for adults with 22q11 DS Survey

Survey
We would like to hear from people with 22q11 Syndrome and their current experience of accessing health care in adult services.


https://www.surveymonkey.co.uk/r/VKSWWLG Right Arrow

22q Family And Friends Meet Up Cannon Hall, Thursday 16 August 2018

Cannon hill farm
16 August at 10:30–15:30
Cannon Hall Farm
Bark House Lane, Cawthorne, S75 4AT Barnsley
cannonhallfarm.co.uk/ Right Arrow

Cardiovascular Care Partnership Annual Conference, Wednesday 06 June 2018

Max Appeal AGM on 26th May 2018 at Cranham Scout Camp

News bearAGMs are a requirement of the charity commission but we thought you'd enjoy it more if it was in a convivial atmosphere... like the camp weekend!

Please see the attached for more information about the charity, the AGM and how to exercise your voting right (if you're a member).

If you want to comment or have any further information get in touch via the usual routes.

Bournemouth Marathon Festival, Saturday 06 October 2018

Bournemouth marathon
Experience 'running as it should be' at the Bournemouth Marathon Festival – enjoy coastal views, run the piers and set a new PB at your favourite distance.

London Marathon 2018 Runners

Day on the Beach. Annual Max Appeal meet up, Sunday 15 July 2018

Scarborough_Beach
The plans are to meet up on Scarborough Beach on the North Bay for our fifth annual meet up on Scarborough beach. It's the usual place infront of the Sands Apartments just at the end of Royal Albert Drive. I shall be getting there around 9.30am and shall put the windbreaks up with the Max Appeal flag on so will be easily visible from the front. It's open to all so if you're tempted and have the time please come along and share your story with us all.

Max Appeal Rocks!

Max Appeal Rocks! Raising Awareness of 22q, whilst having fun.

rock
Welcome to Max Appeal Rocks!

This page has been inspired by similar ventures, and creative friends. It's aim is fun and to raise awareness of Max Appeal, a small charity with an ethos 'to improve lives of 22q11 families.


What is 22q11 I hear you say?
It is the most common chromosome disorder affecting 1:992 of the population, it is more prevalent than Down Syndrome.

It has 180+ symptoms associated with it, in varying degrees. Those with 22q11 disorders are affected in different ways, with variations of these symptoms, in varying degrees, all of which impact on their daily lives.

So this is how 'Rocks' work, you find a rock(s) natural ones are free, (or buy one/them if you want to). Please don't take them from people's gardens and we do not take them from beaches or public areas such as gardens and displays, etc. as I think in some areas you can be fined for this and do not take them from business's hotels etc.

Clean it (if required), let it dry, then you paint it, using acrylic paint (or poster paint mixed with pva glue), permanent markers or some people have used nail varnish! This makes it longer lasting. Perhaps you could use stickers, and cover them in glue (to keep them on the rocks). (Or use permanent markers).

Some creative 'Rocks' have been made using glitter glue, decoupage..... the list is endless! When it's dry if you want to weatherproof your rocks coat with something like spray varnish or an extra coating of pva glue, which dries clear.

Just ideas, be creative and inspire us. Any design use your imagination......!

mixed
Then, write Max Appeal Rocks on the back, also put the F -Face Book sign on it too (maybe use permanent markers). If there is room you could add the date then when it is dry and ready. Take a photo please, post it on here
(Facebook link below or email us at info@maxappeal.org.uk), and hide it, wherever you like, park, near your school, when you go on holiday, on your way to work and let the fun continue!

Lots of places are doing this exciting adventure, so people will be looking for rocks, and will find ours, raising awareness of 22q.

You can then make someone smile when they find it, and raise awareness too!

If you're lucky enough to be a finder of a Max Appeal Rock, you can keep it or re-hide the rock for someone else to find, but please post a photo of your find and where you found it. It's very exciting to know who found your rock and great to see where they end up!

If you find another 'Rocks'- rock, please post a photo on here, and tag them in, to raise awareness of us, and share delight in their finds!


Everyone can join in! Let's go Max Appeal Rocks, let's raise awareness and have fun. Anyone can join in, all creations are valued and welcomed, from the 22q community and the society in the wider context of the world. So, let's get 22q on the global radar where it should be, where everyone has heard of it!

No negative posts or comments will be tolerated, these rocks will be created by children, young people and adults of varying ages and abilities.

https://www.facebook.com/groups/1700512206706338/?ref=br_rs Right Arrow

Jack Padley is running the London Marathon for Max Appeal

Jack Padley
Please sponsor Jack who is running the London Marathon. Jack is a family friend of Ivy Mitchell and her family.

Newspaper article attached.

Link to donate at virginmoney below:


https://uk.virginmoneygiving.com/fundraiser-display/showROFundraiserPage?userUrl=paddersmarathon&pageUrl=3 Right Arrow

Rare Disease Day 2018: Joint North South Conference, Riddel Hall, 5 March

RDD
Julie attended the joint Irish rare disease event at Riddel Hall in Belfast on 5th March and was really pleased to see the great joint presentation from Gillian Cassidy of 22q11NI and Anne Lawlor of 22q Ireland which really brought 22q11DS to the front of the queue (no pun intended) at the meeting. Max Appeal got lots of mentions as the go to place. The dynamic and motivated Dr Tabib Dabir gave the run down on his innovative transition clinic that has been running in Belfast for two years now, ably supported by Gillian. This is certainly a model that could be replicated.
www.nirdp.org.uk/ Right Arrow
This is a poem written by Gillian for her daughter Lucia:


WHILE YOU SLEEP, LUCIA...
How many hours in a hospital chair with you?
How many worrying thoughts?
How many painful tears will you cry?
The rain beats against the window
The many drops can't compare to the moments of concern for you.
Watching your body tied to wires due to underlying missing genes Ties me up with resolution to make your journey count The years you had no voice, no words Seemed to have created in me the need to initially be your voice then the voice of change.
The voice of advocacy.
The recounted medical history underlines just how many bodily systems are affected.
It brings to the forefront how much you deal with yet how normal you think it all is.
Your dada and siblings at home spending hours without us.
The updates to worried family and friends.
When did an ever ready hospital bag become the norm?
When did you become adept at reassuring your 3 year old sister you would be home in a 'minute of little time'?
When did your 2 year old brother start begging 'I want you'?
Right now as you sleep in this hospital bed.
Right now the photos of you are your words Right now people know about 22q because of you.
Right now is counting for something
Right now you are changing the world.
When I ask them if they know about 22q it's not a idle question.
It's me wanting to start a revolution, for you and all those like you.

Association of Paediatric Cardiologists Working Group

'Neurodevelopment and Psychosocial Care from From Fetus to Adult" 7-9th March 2018

Julie attended this event in order to promote the consensus document and maintain relationships with other European links but there were also delegates from Canada and Australia.

The theme of the event was based on psychological effects of having congenital heart disease and the effects of heart surgery, over a person's life. Julie was very pleased to catch up with many people from the UK, Netherlands, Finland, Italy and Germany. It was good to see our very own Claire Illingworth from Cambridge who has made valuable contributions to the Consensus Document, and Kerry Gaskin who is keen to ensure that the Congenital Cardiac nurses Association is always kept informed about 22q11DS.


Following on from that meeting is the European Congenital Heart Organisation meeting. Max Appeal is grateful to Children's Heart Federation for continuing to man the Max Appeal display for the event too.

Craig's Cycle Challenge Crewe to Weston Super Mare.

Craig
Craig is cycling from Crewe to Weston Super Mare to raise awareness and funds for 22q11 and Max Appeal.

Follow his progress;

https://www.justgiving.com/fundraising/craig-powell6

https://twitter.com/HuxleyMichelle

22Q Family Meetup - Mad Hatters Tea Party, Sunday 29 April 2018

The Shuttleworth Collection Old Warden Aerodrome Nr Biggleswade Bedfordshire SG18 9EP

Mad Hatter
Family Meet up Opportunity
Arranged by Tracey Hennighan

22Q Family Meet Up At Magna Science Museum, Tuesday 03 April 2018

Magna
10:00–15:00

CHD Patient Survey

CHD survey adult
A new patient experience survey specifically for congenital heart services has been launched across England. This survey is hosted online and designed to enable all patients - both adults and children - and their parents/carers to report on their experiences of care at specialist surgical (Level 1) centre. There are separate surveys for outpatients and inpatients as well as surveys specifically aimed at parents/carers, children and adults/teenagers.
www.chdpatientsurvey.co.uk. Right Arrow
The surveys have been developed through a number of interviews with patients and parents carers and is therefore designed to reflect the aspects of their care which were important to them. These survey enable patients' experience of care to be reported in a consistent way across all centres in england.

The survey is being hosted by an independent organisation (MSB Consultancy) who will produce quarterly reports as well as a more detailed annual report for each centre. These reports will provide a valuable tool in enabling centres to better understand and respond to patients' and parent/carers' experience of care.

We would encourage all patients and/or parents/carers to complete a survey following any outpatient appointments or inpatient admissions by going to:

If you have any further questions about the survey please feel free to contact MSB Consultancy directly at info@msbconsultancy.com.'

CHD survey child
If you have any further questions about the survey please feel free to contact MSB Consultancy directly at:

(Feb 18)
info@msbconsultancy.com. Right Arrow

The Deep Family Meetup

Thursday 13th February 2018

The Deep
Another excellent Max Appeal family meet up at the spectacular Hull aquarium the Deep on Tuesday 13th February where a good time was had by all.

Arranged by 22q Mum Lisa Franklin, bringing together families from as far away as Skipton, Leeds and Scarborough. The value of these meetings continues to deliver, with everyone enjoying the fishy goings on with sharks, turtles and even penguins to look at. It was brilliant seeing all fish etc. but as always for me the highlight is sitting together and having lunch. It gives everyone the opportunity to meet up with old and new friends, compare stories and generally chew the cud.

A big thank you to Lisa for putting herself out and creating this opportunity for us all to get together and meet up'.

If you fancy hosting your own Max Appeal 22q family meetup - email us at@

info@maxappeal.org.uk

and we can help you organise and promote to other members.

Thanks

The Colour Run London, Sunday 08 July 2018

Colour Run
Is it a bird? Is it a plane?
No, it's The Color Run Hero Tour 2018!

The Color Run is back and it is soaring to London Wembley Park on 8th July 2018!

Improving Lives - The future of work health and disability

Dept Work
The Department of Work and Pensions and the Department of Health have issued a White Paper on how they will make disabled people's lives better in the future.

Easy to read versions available here;
Improving Lives Part 2

22q at the Zoo Worldwide Awareness Day 2018, Sunday 20 May 2018


Image: 22q-zoo-worldwide-awareness-day-home-300x181_medium.png
Save the Date !!!!!

Feeding Children With Heart Conditions

CHF jan18
The aim of this information sheet is to explain why many children with heart conditions have eating problems and what you as a parent can do to help overcome them.

Click to download factsheet


www.chfed.org.uk/wp-content/uploads/2012/06/Feeding.pdf Right Arrow
Reasons for eating problems
There are a number of reasons why children with heart conditions can find it difficult to feed. These include the following.

The child may have an enlarged heart and liver (a symptom of heart failure). If these organs are enlarged, there is less room for the stomach to expand to hold food.
The child is too tired to eat. Children with heart conditions often become tired very easily.
The child has not learnt to feed through their mouth. Children who are at first fed with a nasogastric tube will have little or no experience of using their mouths to eat. Once the tube is removed, they may have difficulty learning to eat normally.
The child may feel discomfort while feeding due to nasogastric tubes. (These can sometimes make a child 'gag'.) Children who have experienced this may continue to associate feeding with discomfort.
The child may suffer from reflux (food coming back from the stomach) or allergies. These health problems are common in children with heart conditions.
The child may not like the type of food that the consultant or dietician has recommended.
The child may lose their appetite or notice changes in taste after surgery.
Calories are what counts!
Eating enough calories is often essential for the health of children with heart conditions, especially if they are preparing for an operation.

Nowadays, there is a lot of pressure on parents to make sure that children have a healthy, well-balanced diet. However, it is more important for children with heart conditions to get enough calories than for them to have a healthy diet. Often this means that you have to feed your child whatever they like to eat, even if it is not very healthy.

The only real problem with a diet that includes lots of sugary food is the risk of tooth decay. Make sure that your child brushes their teeth well and often and goes to the dentist regularly.

Tips for increasing how many calories your child eats

Milk
Whisk or liquidise three to four heaped tablespoons of dried milk powder into whole milk. Try to use at least one pint of this 'fortified milk' each day. This seems a lot to take but you can be keep it chilled and they can sip it through the day. You can also use it in drinks (for example, hot chocolate), sauces, custard, soups, puddings, on cereals and in milkshakes.
Cream
Add cream to cereals, porridge, sauces, soups, mashed potato and puddings.
Condensed milk
Add condensed milk to hot and cold puddings.
Evaporated milk
Add evaporated milk to sauces, custards, jelly, puddings and coffee.
Cheese
You can add grated cheese to sauces, potatoes, scrambled egg and vegetables or as a topping to soup and lots of savoury dishes.
Eggs
You can use eggs to make baked custard, beat them into hot puddings, mix them into potatoes for savoury pies or (using chopped hard-boiled eggs) sprinkle them over vegetables or salad.
Butter and margarine
Add butter or margarine to potatoes, melt it on top of vegetables and pasta and spread it thickly on bread.
Mayonnaise
Use in sandwiches, with fish and on savoury biscuits.
Sugar
Add sugar to drinks, cereals and puddings.
Jams and spreads
Use on bread and add to puddings.
Getting help from other people
If you are having problems getting your child to eat, try asking your cardiac liaison nurse for advice. You can also ask for an appointment with the hospital dietician.

Health visitors are another source of good advice and tips for getting children to eat. However, they are used to advising parents on how healthy children should eat. This means that their suggestions may be unrealistic for your child. If you think this is the case, you may want to show them this fact sheet or suggest they talk to your cardiac liaison nurse.

Many parents find that their children eat better when offered food by someone else. Other people (relatives, neighbours, friends and so on) will often be happy to help feed your child.

Practical tips

When introducing childr

Scottish Disability Golf & Curling

Scotland
Two sports founded in Scotland, are now on offer to disabled people for the first time!!!

The SDGP and the DCS have now merged to form

Scottish Disability Golf & Curling

Sticks & Stones



www.scottishdgc.org.uk/Index.asp?MainID=21667 Right Arrow
Providing sport all-year-round, for anyone of any age with a disability!


'We will still hold as much golf and golf tuition for our members, but over the winter months we will arrange ice curling games, at the numerous Scottish ice centres. Our next big event under the SDGC banner is a week-long ice event against a team of Canadian disabled curlers, early in January 2018. Games are being arranged in Edinburgh, Stirling, Dundee and Fife'

SDGC Membership is free, so why not get in touch and try out one or both sports.
Link below:

www.scottishdgc.org.uk/Index.asp?MainID=21667 Right Arrow

Birmingham International Marathon, Sunday 14 October 2018

Birm int marathon 18
General entries for the 2018 Birmingham International Marathon are now open!

Simplyhealth Great Birmingham 10K, Sunday 06 May 2018

bham
Entries for the 2018 Simplyhealth Great Birmingham 10k are now open!

Max Appeal Ramblers 2018 - Snowdon, Saturday 21 July 2018

stock
Are you looking for a new challenge in 2018?
Would you like to meet and spend time with other Max Appeal parents?
Have you ever wanted to climb a mountain?
Have you ever wanted to take on a challenge that didn't involve running?
Can you work in a team? Would you like to fund raise for Max Appeal?

Annual Tripp's Have a Brew for 22q

The Tripp Family - Have a brew for 22q

tripps 17
November the 25th saw the Tripp's annual 'Have a brew for 22q' open day. We were joined by family and friends to raise awareness of 22q11, to eat cake and drink tea.

Max Appeal families also made the long journey to help join in on the day and it is always a huge pleasure to host our 22q11 friends.
Thanks to the enormous generosity of all that attended and bought raffle tickets we not only gained a few inches around our waistlines but we also raised £300 for Max Appeal.


For those interested in hosting an event please email info@maxappeal.org.uk for a brew pack.