October 2019

New research paper on 22q11 Speech & Language latest practices.

8th March 2020 Do something Amazing - Skydive for Max Appeal

Book a Skydive for Max Appeal.
8th March 2020

https://www.skydiveukltd.com/charity-profile/935/Max_Appeal

A Great Big Thank You to Ben Smith and Family

A massive thank you to Ben Smith and family

Four-year hold Jacob inspires his family to complete 300K paddleboard challenge which raised over for £3K Max Appeal

Photo: Maxie and, from left, Jacob Smith, Kayleigh Millward, Vicki Smith and Ben Smith.

Jacob lives with the rare genetic disorder 22q11.2 deletion syndrome, also known as DiGeorge syndrome. It means from a young age he has had to contend with severe developmental issues, both physically and emotionally.
His father Ben (32yrs) said: "Jacob was born with a cleft lip and submucous palate, and a right aortic arch. At 13 weeks old he had his surgery for repairing his cleft which was a very difficult time. He suffered with feeding problems as well as reflux and slow speech, he has had a lot of input from the speech and language therapist to help his progression.
"As he began to grow he showed signs of slow development, muscle weakness and hyper-mobility. He struggled to hold his head up.
"He has very slow progression with regards to learning compared to his peers and finds it difficult with social interactions and making friends, and he gets very anxious.
"He needs regular routine and pre-warning of changes as he finds this upsetting and difficult. He also gets very frustrated when trying to communicate what he wants and if he can't explain what he means.
"Everyday things we take for granted takes a little more time and careful planning. We feel very lucky though as the condition affects each person differently and there are people who have a lot more severe medical conditions."
Ben said that the charity Max Appeal, which supports families affected by DiGeorge syndrome, has been a huge help for them with advice and support, and now they are doing their bit to raise funds.
Jacob's parents Ben and Victoria joined Ben's brother Daniel, his partner Tracy and their sister Kayleigh Millward to paddle a total of 300 kilometres on the river Wye at the end of August.
Ben said: "We raised money for Max Appeal to raise awareness of 22q11 deletion and support the thousands of families affected.
"With the support of family, friends and the help and advice received from Max Appeal we were able to move forward as a family and ensure Jacob had the extra help required.
The 300km paddle ( #SUP300 ) was the combined brain child of Ben and his older brother Dan.

Ben said;

'What a challenge it was. Each day became a lot harder for everyone but in their own way, the challenge took its toll on both our body's physically but it was also a big mental challenge. Throughout the week the following complaints/ injury's accrued, blistered hands from the paddle, blistered toes from rubbing on the board deck, sunburn and pain in ankle joints, shoulder blades and elbows were to name but a few. Day four was also a bad day for Kayleigh as a visit to hospital was required for a severely sprained ankle after she fell from her board as we finished day four.

The mental challenge came in two parts; the challenge of overcoming the mind and body's need to just stop and rest and the challenge myself and my wife faced when asked to explain the condition to others, this made the whole journey worthwhile as it has allowed to talk about Jacob and his conditions and not to bottle up our emotions. I'd like to think we have made a small difference in raising awareness for both the charity and also the condition.'

Sept 19

Max Appeal 22q Family Camping & Adventure Weekend

On Friday 3rd May Max Appeal families came together once again for our much loved youth weekend in Cranham, Gloucester.

Returning families once again came together like long lost friends and welcomed into the group our first timers, following our usual pattern the Friday was about setting up camp and getting to explore our surroundings before a much needed group meal in the indoor centre. Following on from this our very own resident DJ Ryan entertained the troops with a disco whilst the parents grabbed a chance to talk and share experiences. For those who have never experienced camp we once again had access to indoor sleeping bunks along with our own camping field so that we are able to cater for all requirements.

Saturday morning as always started with a hearty cooked breakfast made by the wonderful Shelly Turpin who once again excelled all weekend ensuring that breakfast, lunch and dinner went without a hitch. With bellies full we embarked on a full day of activities which included amongst other things Grass Sledging, Archery, wall traversing, shooting, arts and crafts, shelter and fire building. If this wasn't enough we enjoyed the delights of a camp fire get together with BBQ. Again for those who have never attended camp the camp fire is a must see event with traditional singing along with toasted marsh mellows and a BBQ guaranteed to fill the hungriest of bellies. Thank you as always to our BBQ king Aaron.

Sunday was spent down by the river building a dam and completing the assault course, as always the parents tried their best to keep out of the water but failed yet again as the dam was so successful the water came to us, during the afternoon those who still had energy left tried axe throwing and explored the camp further.
The following photo taken on the Sunday says everything about the weekend and how relaxing and fun the weekend was

Monday is always the hardest as we spend the morning packing up and saying good bye to the our newly made friends, it gets tougher each year and the tears once again stared flowing as the Max Appeal flag was lowered and we prepared to leave camp.

This year we were missing some regulars due to health issues and our families wanted to send a message that we were thinking of them and wished them well, in particular we sent a message to Clare to support her battle against breast cancer and to let her know that we want her with us at the 2020 camp.

2020 Youth Weekend

Once we invite members to keep an eye out for news about the 2020 camps, we hope to announce the date shortly so keep checking on the website and on Facebook and prepare for another fantastic weekend.

13th July 2019 to Sunday 14th July 2019

The second of our rambles was in July where we met once again to tackle the 12 peaks of the Coledale Horseshoe in Cumbria, following our usual format of meeting in the bar the night before to discuss plans we set off on a warm morning looking forward to the stroll ahead, little did we know what lay ahead as our guide Martin had downplayed the effort needed to complete the walk. Once again the views were stunning and the weather stayed good for us but boy was this a tough walk. Working together we climbed each peak as a team, it's difficult to explain the bonds that are made as everyone is supported to help overcome their fears.

A huge thank you to everyone who joined us this year, one of the aims of the Ramblers is to forge long lasting friendships amongst participants and this year was no different, I hope in 2020 others are able to join us for what are always superb weekends with some tears but also plenty of laughs

15th June 2019 to Sunday 16th June 2019

The Max Appeal ramblers continue to go from strength to strength as we welcomed new members to our social ramblings in 2019.

This year we set ourselves two challenges, the first of which began in June with a climb up Ben Nevis in Scotland, after arriving early on the Friday evening and enjoying some of the local hospitality we set of to bed early knowing that in the morning we would be challenging ourselves to walk to the highest point in the UK. Please note we class 00.30 as early during our rambling weekends.

So at 07.30am we found ourselves at our starting point which by pure chance happened to be a pub car park which became invaluable upon our return, with a spring in our step we set off to begin the 4,411ft climb to the top, within in a very short amount of time, myself and Ben realised that we might actually be holding the rest of the team up and so we bravely let them forge on ahead whilst we decided we were going to get to the top come what may.

Along the route we not only stopped to admire the breath taking scenery but also to talk to the many thousands of other walkers around us, in fact we became so good at the talking we ended escorting a small band of newly acquired friends up to the summit where we met up with the others before enjoying a picnic consisting of a bottle of Prosecco and a pork Pie. Yes that's right whilst everyone around was trying to shelter from the cold and rain we settled in to toast our success before tackling the long walk back to join the others.

31st August 2019

Thank-you for all the positive comments we received about our recent conference. It takes a great deal of planning and time to organise these very valuable days. We would also like to thank all our speakers who gave up their time to attend and share their expertise. The staff at the Education Centre at Birmingham Children's Hospital for the use of the facilities and to the National Lottery for support with the funding of the event. It was great to see members fully participating in the day and hopefully better informed by the time they headed home. If there are subjects you would like to see covered at future events then please let us know by emailing us at info@maxappeal.org.uk

Some of your comments

' xxx and xxx attended our first Max Appeal conference today. So glad we came. We were very encouraged by the progress being made in medical research, increasing the understanding about 22q11ds. A lot of food for thought!'

' Well what an amazing day today at the Conference. Xxx and x I learnt a lot. Thanks to everyone involved in organising. It was really helpful.'

'It was a busy day indeed! Would have loved to have chatted to more people but also good to have so much input from professionals too. Everyone was really approachable and generous with their time.'

'Thank-you for organising the conference. So much interesting and useful information... my head is still buzzing! Lovely to meet new people too'

'What an outstanding day with a jam-packed programme! Well done to all involved in the coordination!'

'A massive thank you to Max Appeal for organising the superb one-day conference in Birmingham last month. It was so good to be able to link with other parents of adults with 22q.'

We heard from Professor Donna McDonald McGinn from the Children's Hospital of Philadelphia about the latest understand of 22q11.2 deletion and duplication syndromes. Professor Timothy Barrett from Birmingham Children's Hospital spoke about endocrinology issues in 22q11 and progress to see more patients at a specialist clinic in the hospital's Rare Disease Centre. There were also representatives from the specialist clinic at Great Ormond Street Hospital, London and the All Wales specialist clinic in Cardiff.

Nicole Prendeville, Speech and Language Therapist at the 22q11 Specialist Clinic, Great Ormond Street Hospital, sharing her knowledge and talked about the common speech and language issues affecting many 22q11 children. Many parents are finding it difficult to access local specialist support for speech and language therapy even though their Education and Health Care Plan has a provision included. We heard of one area who had notified parents all SALT services were being withdrawn. If you have any problems accessing services in your local area it would be useful to contact your Clinical Commissioning Group or even attend their AGM and raise questions about lack of services.
Dr Siske Struik from the All Wales 22q11 DS clinic talked about the frequent immune system issues linked to 22q11 DS and we heard from Dr Maria Rogdaki on psychiatric problems which can affect children and adults.

Max Appeal AGM and report of New-born Screening application progress.

Julie Wootton, Chair of Trustees updating delegates on progress of activities of Max Appeal during the last year.

Mandy Sanderson, parent and NHS guru updating everyone on the New-born Screening application, made by Max Appeal in December 2018.

We built plenty of time into the day for parents to ask questions on the various subjects discussed and some parents shared their experiences. Sue Colley, talked about her daughter's educational journey and Martin Kennedy, Trustee shared his family's journey. Hopefully it will help those starting out on their 22q11 journeys to think about all the possibilities ahead.

Sue Colley. Sue's daughter Rachel is just starting her Master's degree course. We all wish her luck with her continued studies and many congratulations on her successes to date.

Echo Study

Cardiff University's Echo Study 22q11.2 research team were presenting their work at the conference. Dr Sam Chawner and his team discussed links between learning, thinking and psychological traits in 22q11.2 DS, as well as sleep disturbances and brain structure and function.
Sam concluded that researchers are starting to understand 22q11.2 DS better but there is still a lot that is not known. There is still a great lack of awareness of 22q11.2 DS amongst the public and clinicians and that families still often struggle to get recognition and optimal care for their child.
Dr Chris Eaton from Birmingham University discussed the results of a recent study on seizures / epilepsy in 22q11.
We also included a session on how to access advice and support when dealing with problems in education as many parents need to navigate their way through the systems to ensure their child has the appropriate support during their school years.

The day was jam packed with informative talks and the sessions often overran as delegates had many questions to ask. Martin Kennedy managed to keep us all on track for finishing on time and hopefully everyone went home well informed and armed with useful information.

Claire Hennessey

Patients missing appointments cost the health service almost £1bn last year

Alex Mathews-King, health correspondent for the Independent reported last year that missed out patient appointments were costing the NHS more than £1bn each year.

' Patients missing appointments cost the health service almost £1bn last year, NHS England's chief nurse has said.

Professor Jane Cummings said 'the NHS was coming under pressure as never before' and called on patients 'to cancel their NHS appointments in good time if they are not able to go to them to help free up the service for those who need it'.
There were eight million missed hospital outpatient appointments in 2016/17 at an average cost of £120 each, according to NHS England figures.'

I have attended specialist clinics for 22q11 DS where at least 50% of patients have not attended. We know families often wait along time to get an appointment at the few clinics there are around the country and recognise that sometimes perhaps due to illness there may be reasons why an appointment can not always be kept but please try to attend and increase the attendance at 22q11DS specialist clinics. - Claire Hennessey - Max Appeal

Virtual Race for 22q

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.