December 2018

 

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Hello

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As we head into the festive season, I would like to welcome you all to our latest newsletter.

It has been a busy time for the CGD Society since our last newsletter in June. Many fundraising events have taken place to raise awareness and funds that will help us to continue to support those affected by CGD. We are delighted to feature some of your fundraising stories in this edition.

Jeans for Genes Day was on 21 September, with many of our UK members organising events and wearing denim to support individuals and families affected by a genetic disorder. As you may be aware, Jeans for Genes Day was created by the CGD Society over 20 years ago and the majority of the Society’s activity is funded from money raised on Jeans for Genes Day. Visit the new-look Jeans for Genes Day website to see how you can get involved next year https://www.jeansforgenesday.org/


The CGD Society Family Conference took place in October, at the Woodlands Park Hotel, Surrey, England. It was a great weekend and we have included some of the lovely photos taken during the event. Here is a photo of our team at the conference (l–r Dr Susan Walsh; Helen Braggins, CGD Society Clinical Nurse Specialist and me).

This issue also features frequently asked questions, the latest medical news and our regular article, Your Stories. This month we hear from one of our supporters, Simon Bostic, the world’s first surviving unrelated donor stem cell transplant recipient.

If you would like to feature in future newsletters, to share your story or fundraising activities, then please get in touch at hello@cgdsociety.org We would like to hear from both our UK and overseas members.

Finally, I wish you all a safe, healthy Christmas and New Year.

Best wishes,

Claire

Charity Coordinator

The CGD Society Family Conference 2018

This year’s Family Conference took place on 19–21 October in Surrey, England. This three-yearly event is an opportunity for members to meet other families living with CGD, to listen to presentations on the latest research and advances in treatments and to get away and have fun at our Halloween-themed dinner party.


We welcomed back families from previous conferences and many families new to the CGD Society. We also welcomed many of our overseas members, who travelled from Australia, Canada, Italy, Mexico and The Netherlands to attend. It was lovely to see you all there; thank you for attending and we hope you enjoyed the weekend and found it helpful and informative. The recorded presentations will be uploaded to our website for those who were unable to attend.


The conference was made possible thanks to the kind grants awarded to us from The Big Lottery Fund and Orchard Therapeutics. 

A thank you goes to Esther and her production team for helping the presentations to run smoothly, to Arsheen Qasim from Genetic Disorders UK for her hard work in helping Claire, our charity coordinator, to all our guest speakers and to all the trustees who volunteered their time to help. We would also like to thank Helen Braggins’s daughter, Charlie, for volunteering to look after the older children throughout the weekend.


The weekend was a great success. We look forward to seeing you all again, and maybe a few new faces, at the next Family Conference.

Frequently asked questions

Q. Are there any links between CGD and depression?


A. There is very little research about quality of life and mental health in CGD. There is an issue with depression in adults living with long-term chronic conditions (e.g. cystic fibrosis) and there is general acceptance that depression and anxiety are linked to living with CGD. The Royal Free Hospital in London has undertaken a research study specifically looking at mental health in CGD and the work is being written up for publication. We will share the results once the study is published.


Q. My daughter and I both have severe Crohn’s disease. My daughter has spiking temperatures, chronic abdominal pain, nausea, diarrhoea and perianal abscesses. She is due to have a colostomy at the end of the month but a new gastroenterologist has suggested an investigation into CGD. My question then is this, how long does it take for a CGD diagnosis and should my daughter have this life-changing surgery?


A. The gastroenterologist is correct to test for CGD. CGD needs to be ruled out before the operation because the treatment for your daughter’s symptoms will be completely different and a colostomy may not be needed if she tests positive for CGD. The diagnosis takes a few hours and requires only a blood test. We are here to support you, and our CGD clinical nurse specialist will be able to offer you help and advice should a diagnosis of CGD be confirmed. 


Q. My child has a Hickman line. What is the procedure if he ever has a fever?


A. If your child’s temperature is 38o C or higher, he needs to go to hospital straight away and be seen urgently. Do not give him paracetamol, aspirin or ibuprofen as these may mask the fever. The hospital must take blood samples from the line and start intravenous antibiotics. Sometimes children can look very well and have no other symptoms. However, having a line that goes into the bloodstream means that a child with CGD is at risk of developing a serious infection, and any fever of 38o C or higher must be treated as a line infection until the blood test confirms it is not.


Q. Do you have any information on vaccination after a BMT? And is the chimerism taken into account before vaccination?

 

A. Every BMT centre should have a revaccination schedule, so please check with your transplant centre. Consideration is also given if a child is receiving immunoglobulin. Vaccinations would not commence until three months after immunoglobulin therapy has stopped. Unfortunately, we cannot comment on the question of chimerism as this is down to the individual patient and needs advice from their consultant.

Latest News 

Helen, our clinical nurse specialist, and Susan, our technical director, have been asked to join a European Society for Immunodeficiencies (ESID) working group to develop clinical guidelines for CGD. The group will be made up of international experts on CGD, with the aim of providing advice for doctors and nurses who care for patients with CGD.

Helen Braggins’s award 

Our clinical nurse specialist Helen Braggins attended the ESID/INGID conference, where she chaired a session on genetic diagnosis. At the conference, Helen was presented with the Nursing Achievement award for her outstanding contribution to primary immune deficiency nursing.

Helen was nominated by patients and voted for by the International Nursing Group for Immunodeficiencies. A huge well done, Helen, and a much-deserved award.

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Sepsis

People with CGD are more at risk of sepsis than others, so it’s vital to know the warning signs. Take a look at this webpage to learn more.

 

Inflammatory and autoimmune problems in X-linked carriers of CGD

Two recent studies, published in the Journal of Allergy and Clinical Immunology, have added to the weight of evidence concerning the health implications of being an X-linked (XL) carrier of CGD. The research shows that some XL-CGD carriers have similar problems with infection, inflammation and autoimmunity as seen in people with CGD. Click on this link to find out more


Flu vaccine

In the UK, annual flu jabs are recommended for older people and those with medical conditions, including CGD and immune deficiencies. Learn more about why it’s important for someone with CGD to be inoculated.

Fundraising    

A huge well done to Tom’s Green Team who took part in this year’s Prudential RideLondon on 29 July and raised over £3,000 for the CGD Society. This amazing amount was raised in memory of Thomas, who sadly passed away in 2012 from infections resulting from a bone marrow transplant (BMT) for CGD.


Starting at the Queen Elizabeth Olympic Park, the event saw the team cycle a 100-mile route through London and Surrey’s countryside. The team was made up of Thomas’s proud mum, Michaela Burton; Thomas Bradley and Jack Boyd. Unfortunately, an injury meant that Michaela had to pull out of the race at the last minute but she was able to be there on the day to cheer on the rest of the team. You can read Tom’s BMT story here.

 

A fantastic day and, again, a huge well done! 


If you think you could match Tom’s Green Team’s achievement, Prudential RideLondon 2019 will take place in August. Keep looking on our website www.cgdsociety.org for registration details.

James Kemp, ABP Newport Wales Marathon

James completed the ABP Newport Wales Marathon in April 2018 in memory of his dear friend, Josh Rogers. Josh, 26, sadly passed away owing to complications from CGD. James raised over £1,300 for the CGD Society. This is James’s story:

My training for the marathon went well. I trained for four months without any injuries or niggles, and in the lead up to the marathon I ended up covering 784 miles, with my longest run being 22 miles. The day itself was a total rollercoaster of emotions. I didn’t set out with a finish time in mind; I just knew that I wanted to run a good, solid race and enjoy my first marathon.

During the race I had spells when I felt exuberant because of the support from everyone who was there on the day. Yet, at other times, I was overcome with emotion as I found myself thinking about Josh. 

 Entering the last mile was tough and I felt that I was going to have to lower my pace to a walk. But by digging deep and powering over a bridge (which felt like a mountain at this stage) I managed to find something extra and ended up achieving my best pace of the day, pushing as fast as I could, for that last mile.  


Approaching the finish line and seeing not only my friends and family but also Josh’s family lining the streets and cheering me on, I could not help but burst into tears. I was feeling unbelievably happy that I had completed my first marathon but more so that I had done it in honour of my best friend, Josh. Crossing the finish line and making my way through the finish area, seeing everyone there for me, I couldn’t help but cry with them all.

My friendship with Josh (Lil Josh as I called him) was long. We first met way back in comprehensive school and our friendship grew quickly as we used to play football together for our local team, Fields Park. We lived but a stone’s throw away from each other. We would often go down to the field and kick a ball around with each other and with other friends. As we grew older, we continued to stay best friends and would often go down the pub and have a game of pool and darts. We went to sporting events, such as the Olympics and ice hockey. We also went on a few holidays together. These are some of my fondest memories of our times together, and some of the laughs we shared will never be forgotten. Josh lived his life to the fullest and I am honoured to have spent time with him over the years, even if it was too short.


Well done, James. We are so glad the day went well and we really appreciate your fundraising.

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Bethany’s raffle

Bethany contacted us here at the CGD Society wanting to fundraise at university and work, organising a bake sale or raffle. Bethany’s boyfriend and his brother have CGD and she wanted to give something back after the support we have provided them both.

Bethany organised a great raffle at her place of work, The Snow Centre in Hemel Hempstead, England. Local businesses donated prizes that included soft-play vouchers, family gym membership and a family swimming session at the local sports centre. A local catering company donated some chocolate lollies and The Snow Centre donated a private ski lesson. 


Fantastic work, Bethany. You raised an impressive £200 for the CGD Society.

Jeans for Genes Day

A big thank you and well done to all the staff and children at Little Fingers Day Nursery, Darenth, England, for their contribution to Jeans for Genes Day on 21 September. They raised £61.30. Preschool room leader/supervisor, Jo George, pictured here with her class, informed us of all the activities that took place on the day to raise awareness and funds. Children decorated pairs of jeans and coloured in worksheets, and Jo had her nails painted blue! It sounds like you had lots of fun.

We really appreciate you all taking part and your fundraising will help support families affected by a genetic disorder.

Space restrictions mean that we cannot feature all your fundraising stories in this newsletter, but we want to thank everybody who has fundraised and donated to us this year. We especially want to thank the family and friends of both Nia Thomas and Josh Rogers, two young people who sadly passed away in December 2017 and March 2018, respectively, for the many fundraising events and donations that have taken place in their memory.


Without your fundraising efforts and donations, we would simply not be able to continue to offer the support and services we provide to so many of our members, both here in the UK and worldwide. If you would like to get involved and fundraise for the CGD Society, then please contact me at events@cgdsociety.org with your fundraising ideas. There are many ways you can donate to us, including through our website. You can also set up a regular payment. Click here for more information.

Life of a CGD Society trustee

Jackie Irvine tells us about being a CGD Society trustee

 My son, Tom, was born with autosomal recessive CGD. In 2011, aged 17, he became the first person with CGD to have a bone marrow transplant at University College Hospital (UCH) in London. He was extremely fortunate to achieve 100% engraftment and no longer has CGD.

Following the amazing support we received from Helen Braggins and the team that looked after Tom at Great Ormond Street Hospital and UCH before, during and after his BMT, I wanted to give something back. With a little persuasion from Helen, I became a trustee of the CGD Society in 2015.


Being a trustee is time consuming and you must be committed to the cause. Having a hectic job means that I have often struggled to meet the time demands placed on me but playing a part in helping others improve a cause close to my heart offers a huge emotional payback. 

The CGD Society has come a long way since Tom was diagnosed. Social media, the website and the newsletter enable us to communicate with you, the members, and it is extremely rewarding to know that we are now a leading source of support for individuals and families affected by CGD in both the UK and internationally.


I am passionate and enthusiastic about helping move the charity forward and setting its future direction. I enjoyed being heavily involved in this year’s Family Conference and meeting some of the families who attended. Hopefully I will get to meet many more of you at future fundraising events.


If you are interested in becoming a trustee and would like to know more about what it involves, please get in touch with Claire at hello@cgdsociety.org  


Your Stories

Simon Bostic’s Story


I was diagnosed with CGD at birth. My older brother, Andrew, had already been diagnosed after suffering multiple infections. Tragically, he died from septicaemia at the age of two and a half. Back then, in 1972, CGD killed most children before they reached their teens.

Neither of us had a match within the family and because there was no donor register in those days, there was little hope of finding an unrelated donor either. And besides, no one in the world had ever survived a bone marrow graft from an unrelated donor. Doctors said there was no hope – I had already suffered ten respiratory infections. So, a miracle was needed. In fact, a double miracle: finding a donor and surviving such an experimental procedure.


My mother, Elisabeth, refused to accept this and persuaded the team to try and assemble a panel of unrelated donors. She also tirelessly campaigned and fundraised for research and sterile units at Westminster Children’s Hospital, where we were treated.


Amazingly, in the process, she attracted the attention of the national media and a global search for a matching donor began. The overwhelmingly positive response of the general public astounded everyone. In a miraculously short time a match was found.

On Friday 13 April 1973, I became the first person in the world ever to survive a bone marrow (stem cell) transplant from an unrelated donor. The unlikely success of the transplant led to Shirley Nolan travelling all the way from Australia in the hope that her son, Anthony, could benefit as I had. Sadly, a donor was never found for Anthony, but Shirley went on to create a worldwide register of donors known today as Anthony Nolan.


It is true that due to the experimental nature of the procedure, the graft was too small to last a lifetime, but I was saved from certain death and the graft saw me through my childhood.

More importantly, I was living proof that it could be done, that volunteer donors wanted to help, that more lives could be saved …


Thankyou Simon for sharing your story and the photo of yourself as a child at the time of your transplant with your Mum and Dad.

 

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