December 2011

CHECK THIS ISSUE FOR RESEARCH PROGRESS, INFORMATION DAY & WEEKEND GET TOGETHER 2011 & 2012, FUNDRAISING NEWS AND FUTURE AIMS

Dear all,

Well, once again I’ve failed miserably to produce a newsletter until a year later and once again I will apologise for this. Hopefully, with the advent of many changes within the charity, this will be a thing of the past and you will receive regular newsletters throughout the following year.

However, this doesn’t mean we haven’t been doing anything—quite the contrary! There are many exciting changes to the structure of the charity which will free up my time to be with my boys and concentrate more on the issues we desperately want to tackle but have not as yet been able.

So, we have now introduced to our staff, Paola Pierri as our business development manager. She will be in charge of ensuring that the public face of the charity, for example our website, is up to date and relevant as well as increasing our online presence through twitter, Facebook etc. She will take on all the jobs I’ve never had time to do properly, such as getting newsletters out on time amongst a million and one other things. Some of you will have met Paola at our weekend get together this year as she was originally employed by us to develop our Route Maps for Rare Conditions project with the Genetic Alliance. We were so impressed by her work that we offered her a job, and much to my relief she accepted! She will also develop various strategies to do with fundraising, awareness etc. and develop objectives and targets for the year.

We have also opened our third shop in Forest Hill which is doing fantastically well thanks to our wonderful shop managers, Maria Colak, Lee Thorne and volunteer turned employee Theresa Connor—we welcome Maria Bennett to the team as our apprentice manager, who will manage the next shop on completion of her apprenticeship. With the recession and cuts in funding across the board we have a plan to increase the shop numbers by one a year to enable us to give ALD and AMN the maximum financial input we can.

This has been a year of joy as we celebrated Alex’s 18th birthday in style with a big party, friends old and new and lots of music and Guinness! It has also brought great sadness for those we have lost and strengthens our determination to find and fund that elusive cure. In particular I would like to mention my beloved grandmother who brought me up despite her own hardships, one of my dearest friend’s sad loss of his first grandson, and, of course, our very own Dr Philip Lee who will be greatly missed by us all.

We wish you all a very merry Xmas and a hopeful New Year, SARA, ALEX & AYDEN xx

NEWSLETTER DECEMBER 2011

THIS NEWSLETTER IS DEDICATED TO THE FOLLOWING

WHO HAVE SADLY PASSED AWAY FROM ALD IN THE PAST YEAR:

JAMES FREDERICK RICHARD FORRESTAL 12 DECEMBER 2010 AGED 33

SCOTT RICHARD PIKARAINEN 25 JUNE 2011 AGED 20

SAMMY ZELTSER 16 AUGUST 2011 AGED 10

AND TO OUR DEAR FRIENDS:

HAYDEN MARK JOE BAKER 2 JUNE 2011 AGED 2

JOAN HUNT 28 JUNE 2011 AGED 91

DR PHILIP LEE 18 AUGUST 2011 AGED 48

FUNDRAISING NEWS

CHRISTMAS CARDS Our Xmas cards remain the same for this year and we have enclosed a sheet for you to choose the designs you want.

OR..... This year ALD Life goes green! If you want to send your E-Christmas cards from ALD Life via email, or share them on Facebook or Twitter, you can choose and download our Christmas cards on our website, and add your personalised message for your friend or family! The cards will be avail-able for a minimum donation of 1£ - 1$ or 1 Euro. Check our website and choose one of the fabulous cards that designers from all over the world have created for ALD Life.

CHRISTMAS RAFFLE You just cannot miss the annual Christmas Raffle from ALD Life. Last year we raised £1,177.00 but we know that we can do better than that. So help us to at least double it!

This year our fabulous prizes are:

1st prize £500

2nd prize £100

3rd prize Meal for 2 at the Tower

Bridge Hilton Hotel in London

12 EASY IDEAS TO SELL TICKETS:

ask at school, ask at work, ask your local shops, ask your family, ask your hairdresser/barber, ask your neighbours, ask your favourite pub, ask your friends (or even your worst enemy!), ask your landlord, ask your doctor, ask your gym, get your own back on unwanted visitors....!

If you do this, the twenty tickets we’ve sent you won’t be enough. But don’t worry, we can send you more by return, especially now you don’t have to rely on Sara to post them out on time!

WE ARE TRULY MOTIVATED TO MAKING THE

YEAR AHEAD A VERY SPECIAL ONE FOR US ALL.

We have a very busy action plan for the year and we need to raise as much as possible to make all our plans a reality. It will be an important year for us, to make sure that ALD Life is known within the ALD worldwide community and is regarded as a serious stakeholder in the progress in the fight against ALD and AMN. We would like to improve the level of ser-vices available for our patients and families, give more information and support, raise the awareness around the conditions among the public opinion, cham-pion research projects for new trials and treatments.

We need all the support available to accomplish our mission and we know that all of you will be there to support us as you can.

0n this page you will find a list of fundraising events that you can join to support the charity.

GET INVOLVED TO MAKE THIS YEAR SPECIAL

FOR ALD LIFE

If you would be happy to get more involved in raising funds for ALD Life there’s plenty of things that you could do for us. Thanks to Mark Bostock, one of our trustees, we have a new tool for fundraising to use: please go through our amazing “Fundraising Pack” (enclosed) and find the best way for you to support ALD Life. If you put in place any of these actions we will be happy to help with advertising events or providing promotional materials. Your feedback and ideas are fundamental for us. Thanks!

AND DON’T FORGET WE HAVE PLENTY OF

COLLECTION BOXES FOR YOU TO PUT IN

YOUR LOCAL BUSINESSES OR JUST FOR YOUR

SPARE CHANGE AT HOME—JUST CONTACT US

TO BE SENT ONE

FOR 2012 WE HAVE PLACES IN THE GREAT NORTH,

SOUTH, EDINBURGH AND MANCHESTER RUNS.

ANYONE WISHING TO PARTICIPATE PLEASE DO

GET IN TOUCH RE PLACES. WE HAVE SPECIAL

RUNNERS PACKS AVAILABLE WHICH INCLUDE

SPONSOR FORMS, T SHIRT AND LEAFLETS. PLACES

ARE FREE OF CHARGE AND WE ASK THAT

PARTICIPANTS CAN RAISE AT LEAST £100 FOR US.

WE ARE NOW PART OF THE DO IT FOR CHARITY

SCHEME. ANYONE WISHING TO SEE WHAT

EVENTS THEY CAN PARTICIPATE IN SHOULD GO

TO

WWW.DOITFORCHARITY.COM/ALDLIFE.ASPX

EVENTS INCLUDE OVERSEAS TREKS, BICYCLE

RIDES IN THE UK AND OVERSEAS, SANTA RUNS

IN LONDON AND MANCHESTER AS WELL AS THREE

DIFFERENT TYPES OF PARACHUTE JUMP!

NEW CHARITY SHOP As mentioned previously we have now opened our third shop in Forest Hill, south east London. We are happy to report that it has hit target and above since day one which is a huge relief. It’s taken a while for the charity shops to really take off and to find the right staff to run them. We think we’ve got the formula right now and plan to open one a year for the foreseeable future. The shops provide the funding for all the administration of the charity and the majority of costs generated by fundraising, advertising, wages and attending relevant con-ferences. With the recession and government cuts it is becoming more and more difficult to obtain funds through grants. We think by having the charity shop business as the backbone for running the charity, leaving public donations purely for funding grants, research and support, we have a sound strategy for the future.

MORE FUNDRAISING NEWS

A UNIQUE EVENT FOR CYCLISTS This year we have invested in places for the Nightrider London event. This is an exciting 100km moonlit cycle ride past London’s iconic landmarks—see Tower Bridge, a deserted City of London, Canary Wharf, Hampstead Heath, London Zoo, Piccadilly Circus, British Museum, London Eye, Houses of Parliament, Trafalgar Square, Royal Albert Hall, Battersea Power Station and more in a unique and rarely seen light. The overnight ride takes place on Saturday 9 June 2012 and we

have ten places for those wishing to participate in this amazing event. There is a reduced registration fee of £39 for those wishing to cycle for ALD Life which can be reclaimed in sponsorship. Go to our home page on the website for a direct link for registration or go straight to: regonline.activeeurope.com/Register/Checkin.aspx?EventID=1001001&lbrd=1&rtypeid=57324

AND DON’T FORGET OUR MERCHANDISE....

EASYFUNDRAISING This is the news for you if you shop online - you can register your profile with Easyfundraising and every time you shop online from a long list of the main shops available you will raise funds for ALD Life. The best part is that this is a completely free way to raise money! The donation will be made by your online shop. Let’s try and support ALD Life even while doing the shopping! Go to easyfundraising.org.uk to register and start earning money for us while you shop.

SEE THE SHEET ENCLOSED WHICH DETAILS OUR CHRISTMAS CARDS AND ALL MERCHANDISE WE CURRENTLY OFFER. IF THERE’S ANYTHING YOU THINK WE SHOULD STOCK BUT ARE NOT THEN DO LET US KNOW—WE WELCOME ALL IDEAS

NEW FOR THIS YEAR—PAY & ORDER ONLINE YOU CAN NOW PAY FOR MERCHANDISE, CHRISTMAS CARDS AND RAFFLE TICKETS ONLINE—JUST SEND US AN EMAIL DETAILING THE GOODS YOU WISH TO PURCHASE AND WE’LL GET BACK TO YOU WITH A TOTAL PRICE INCLUDING POSTAGE. NEXT GO TO WWW.JUSTGIVING.COM/ALDLIFE AND DONATE THE AMOUNT FOR THE GOODS YOU WISH TO PURCHASE. IF YOU WISH TO PURCHASE RAFFLE TICKETS BY THIS METHOD PLEASE SPECIFIY IF YOU WISH US TO SEND YOU THE PAPER TICKET OR IF YOU ARE HAPPY TO ACCEPT AN EMAIL WITH YOUR TICKET NUMBERS DETAILED.

FUNDRAISING THANKS

AND A BIG SWEATY THANKS GO TO....! Huge thanks must also go to everyone who did a sponsored event for us this year and fundraised through the Just Giving and Do It For Charity sites—through these we raised an astonishing £14,796.77 so a big thank you to the following who ran (some backwards!), swam, biked, walked, jumped out of planes and all manner of things for ALD Life this year: Mark Armstrong Sophie, Susan & Emma Ashworth Gary Busteed Simon Cass Jennifer Chidlow Paul Connor Jenna Coxon Brogan Cozens-Mcneelance Gary Cranston Nicola Cuddihy Neil Dey Robert Downer-McGlone Steven Drewett Diane Dunlop

Nathan Evans Samantha Forster Matthew Garnett Jennifer Garrad Kirsty Goddard Barry Heron Lisa & Keith Hudspith Andrew Jackson Niall Kenyon Andrew Knox Donna Laidler Helen Little Mark McBarron Karl McIntyre Robert Moore

John Murray Deborah & James Nixon Helen Oram Steven Pattison Nikolai Ransom Lucy & Simon Read Rebekah Roberts Steve Roberts Tracy Rutherford Audrey Shirley Lee Smith Tyrone Thomas Katharine Tipper Lynn Ungi

Friends of Tudor Rose Restaurant on Wirral £150.00

Mrs June Stowe & Linda’s line dancing club £120.00

Sara Denny £135.00

St Matthew's Primary School £45.00

Ms G Varnam £15.00

Mrs L C Dimino £40.00

The Michael & Anna Wix Charitable Trust £200.00

Toy Trust £3000.00

Paint Shop Children's Fund £200.00

The Seahorse Great Sutton £1280.29

The Lilley Benevolent Trust £1000.00

H A Holliday Charitable Trust £500.00

Parents of Kim Apps £356.51

Terracycle UK Ltd £43.48

Latin Night Fundraiser £261.70

John & Cherie Taylor £64.70

The MacRobert Trust £3000.00

Prudhoe County High School Fund £87.00

Ian & Joanne Boaler £50.00

Antonia Wilcox £135.00

Maureen Tipper £15.00

Kathy Fynn £25.00

Mrs J E Dunkeld £25.00

Mrs EG Fox & Mr JJ Fox £20.00

Oakdale Trust £500.00

The Freemason's Grand Charity £1500.00

J Sainsbury's PLC, £200.00

Sainsbury's Local Heroes £200.00

Barlow's Primary School £50.00

Muriel Coverdale £180.00

Mr & Mrs Tom Wilson £60.00

Andrew Cockayne £50.00

Pete and Sharon Steadman £200.00

Mr P Weeks & Mrs S Weeks £50.00

Mr Stuart P Petters & Dr S L Forster £115.00

Mrs D M Evans £115.00

C A Dean £300.00

Mintlaw Academy School for Logan & Kyle Walker £200.00

Geoff and Pauline Mahy 160.00

Caroline Walker in memory of Rob 540.00

Mrs L D Peacock 25.00

Border & Immigration Agency of Liverpool 455.00

Cheryl Lygo 25.00

In memory of Joan Hunt 115.00

Children in Need 7,750.00

Exodus Travels 2,800.00

THANK YOU * THANK YOU * THANK YOU * THANK YOU * THANK YOU * THANK YOU * THANK YOU * THANK YOU * THANK YOU * THANK

* THANK YOU * THANK YOU * THANK YOU * THANK YOU * THANK YOU * THANK YOU *

THANK YOU * THANK YOU * THANK YOU * THANK YOU * THANK YOU * THANK YOU * THANK YOU * THANK YOU * THANK YOU * THANK

* THANK YOU * T

HANK YOU * THANK YOU * T

HANK YOU * T

HANK YOU * T

HANK YOU *

AND OF COURSE NOT FORGETTING OUR GO-GETTING NEW

TRUSTEE, MARK BOSTOCK, WHO HAS RAISED JUST UNDER

£15,000 FOR US THIS YEAR WITH VARIOUS ENTERPRISES

INCLUDING BAG PACKING, SPONSORED WALKS AND HIS

EXCELLENT CHARITY BALL WHICH BOTH SARA AND ALEX

ATTENDED. WE BOTH REALLY HOPE THE EXPERIENCE WILL

BE REPEATED! HINT, HINT MARK!

TRUSTEE & STAFF NEWS

PAOLA PIERRI—BUSINESS DEVELOP MANAGER

This is Paola, nice to meet you! I have had the pleasure of meeting many of the ALD Life members and support-ers so I am not completely ‘new’ to the charity. I have actually had the honour of coordinating the Route Map project (you’ll find more info and update in this news-letter) and meeting and discussing with a lot of you, in person or via email, to un-derstand better your needs and your condition. Definitely the project has been the best angle to start this collaboration with ALD Life. During these months I have read a lot about rare diseases, the role of the patients and the families in dealing with a genetic disorder, your needs and the support received. I have had

the opportunity of talking with amazing people like you (patients, families, carers and NHS professionals) and ex-periencing first hand the amazing job that ALD Life is doing in supporting people with a diagnosis of ALD or AMN all over the world and championing research to find a cure as soon as possible. This is what I have found and appreci-ated in ALD Life during my time with the charity as a project coordinator. Now I am enthusiastic of my new role as Business Development Manager. I will be responsible for developing new opportunities for the charity, in terms of services and funding. There’s a lot to do and I am confident because I know I will have your support. Thanks in advance for this. Keep in touch! PAOLA X

ALD LIFE TRUSTEES All the trustees of the charity are directly affected by ALD or AMN in some way ensuring that we are always guided by those with a vested interest in the disorders. This year saw the loss of two of our trustees due to other commitments, Frank Smith and Pat Hensby. We would like to take this opportunity to thank them for their help during their time with us.

Currently our trustees are: Mark Bostock, Michael Hensby (treasurer), Sara Hunt (Chair), Chris Ogden, Barbara Pennington, Marie Risolino, Katharine Tipper. Our medical advisor is Dr Robin Lachmann of the National Hospital for Neurology and Neurosurgery in London. We welcome any offers to become a trustee for us and if you are interested in this and helping to develop ALD Life in the future then please do get in touch. There are no special qualifications re-quired just a passion for the cause which we know you all have and meet in London three times a year. We look forward to hearing from you!

YOUR ALD LIFE

NEEDS YOU!

THERESA CONNOR

SYDENHAM SHOP MANAGER

LEE THORNE

PENGE SHOP MANAGER

MARIA BENNETT

APPRENTICE SHOP MANAGER

MARIA COLAK

FOREST HILL SHOP MANAGER

HELEN ORAM

ADMINISTRATIVE ASSISTANT

AND INTRODUCING

THE ALD LIFE TEAM: We thought it would be nice

for both you and our staff to

put names to faces and so

here are the lovely ladies

that are helping to make ALD

Life what it has grown into

and what they do.

Sara may have been a bit quiet this year but that doesn’t mean to say that nothing’s been going on. Quite the contrary. ALD Life has seen a third charity shop open, three new members of staff join the team, not to mention finalising our practical information leaflets (at long last!) and seeing us halfway through the Routemaps Project. And, finally, our pro-motional DVD is ready and can now be viewed on the home page of the website as well as You Tube. A huge thank you to all of you who agreed to be part of this DVD which is making a big impact. If you’ve not viewed it yet then please do share it on Facebook and other social networking sites for optimum impact.

We have also been working closely with the other ALD charities worldwide as we feel it is incredibly important that you know that we are all working together to find answers and not all trying to reinvent the wheel or go it alone. In July this year ALD Life brought together all the ALD charities around the world to California to share ideas, resources and to see how we can work together and act as a single voice. The event was a tremendous success with all parties agreeing to an informal Alliance to be called the ALD-AMN Global Alliance. There will be a new website that will be a one stop shop for all things ALD/AMN related and will use the best bits from each of the charities. We hope this alliance will give those with ALD and AMN worldwide the confidence that all the charities supporting the disorders are working together and sharing information for everyone’s benefit.

A recent development from the US means a mechanism for testing newborn babies for the ALD gene has been devel-oped. We are now working closely with Dr Colin Steward and a team in Bristol who are looking at newborn screening for babies in the UK. This is a fantastic opportunity to put parents in control of the health of their child and we are very proud to be a part of this. We’ll keep you posted as things develop.

As mentioned earlier our practical information leaflets are now ready and we will be sending these out shortly for you—there are five different leaflets dealing with all aspects of living with ALD and AMN—being a carrier, women with AMN, men with AMN, symptomatic ALD and asymptomatic ALD. We hope these will help those with new and existing diagnoses and welcome your comments and thoughts on them as they are ongoing project that we will be updating regularly as treatments and options change.

We have more big plans as well—we have just funded our first bit of research—see opposite—and hope to make ALD Life a major stakeholder in research funding for the future. We never dreamed we would ever get to this stage and it is won-derful and so encouraging that we have and so now, as ever, we want to do as much as we possibly can and have various ideas and schemes for making more money so we can do this. Please also remember that if you want any monies that you donate to us to go purely to funding research then all you have to do is to let us know. We have a restricted fund that we can put this money into which will then ONLY go to fund research and can send you any proofs that you need to corrobo-rate this.

And finally, Sara and Mark attended the Myelin Project conference in Paris in October this year. They met with various researchers who presented some very exciting developments and also with other members of the ALD-AMN Global Alli-ance and introduced the alliance concept to the researchers and other interested parties. All seemed encouraged by the idea and we’ll continue to work on supporting these researchers to the best of our abilities.

ALD LIFE NEWS

ENDOCRINOLOGY PROJECT We have recently applied for funding for a project to address the problem of people being diagnosed with Addison’s Disease but not being tested for the ALD gene. We want to train up endocrinologists so that it is immediately flagged up: figures suggest that around 80% of those with Addison’s Disease also carry the ALD gene. We think this could be a life saving project.

In particular we want to put an end to the horror sto-ries of those boys with known Addison’s who are not tested for ALD and then go on to have symptoms and cannot have a life saving bone marrow transplant due to the lateness of diagnosis.

To date we have been shortlisted to receive a substan-tial grant for this from Jeans for Genes and we will let you know as soon as we do if we have been successful. However, be assured we will be working on this project regardless of our success and are confident we can get the funding one way or another.

VITAMIN D Sara recently sent to all an email from Steven Simms and his experience with taking vitamin D supplements and improvement in his mobility and stiffness. Following a recent visit to Alex’s endocrinologist the family were advised to give Alex vitamin D supplements as vitamin D deficiency is associated with adrenal insufficiency.

As we are not medical professionals it would be remiss to advise all of you with adrenal failure to start taking vitamin D. However, it may be beneficial to you to have your vitamin D levels tested as vitamin D is essential for bone health.

For those with symptomatic ALD Alex’s endocrinologist also advised plenty of exposure to sunlight (not easy in the UK I know!). Alex has now started taking vitamin D supplements with no ill effects to date.

GENE THERAPY RESEARCH PROJECT As mentioned earlier we have put 10,000 euros towards the gene therapy transplant currently ongoing in France. Natha-lie Cartier has written the following update on this research for us:

X-linked adrenoleukodystrophy (ALD) is characterized by two main clinical forms: adrenomyeloneuropathy (AMN), a spi-nal cord disease that starts in young adults and leads to paraparesis and to severe motor disability, and cerebral ALD, a devastating demyelinating disease of the brain that concerns children between 5 and 15 (45% of all ALD patients). 35% of adults with AMN will also develop cerebral ALD, with the same very severe evolution. Since the ALD gene was identi-fied in 1993 by Patrick Aubourg, we have been working on the development of therapeutic strategies to treat ALD. Bone marrow transplantation (BMT) from donor was shown by P Aubourg to be the only therapeutic strategy able to stop the progression of cerebral ALD. Unfortunately, not all ALD patients have a donor, and the procedure is still associated to high mortality risk (20% in children and up to 40% in adults). Because of the limitations of BMT, we have developed a gene therapy strategy for cerebral ALD based on correction of own patient blood cells with a viral vector (derived from HIV) and transplantation of these autologous corrected cells. This approach avoids complications due to the use of donor cells. We have started a clinical trial in four children with cerebral ALD and have demonstrated that gene therapy is able to stabilise the disease in the two first treated patients with the longest follow-up (5 years), with efficacy comparable to that of BMT, with out the complications associated to BMT.

Because of the high mortality risk of BMT from a donor or cord blood, it was proposed as a therapeutic option for AMN. However, our experiments in the ALD mouse model (that is a model of AMN and not of cerebral ALD) strongly argue for a potential beneficial effect of BMT in AMN. BMT corrects motor disability in ALD mice, and we are currently complet-ing the full biological analysis of transplanted animals showing that BMT improves different biological markers of the disease. When this proof of concept is completed in animal models and when we have enough results of gene therapy for children with cerebral ALD, our plan in the mid-term is to propose gene therapy not only for adult patients with cerebral ALD, but also for adult AMN.

To improve and simplify this approach, we try in parallel to identify in the blood cells that are the precursor of the tar-get cell that is deficient in the brain or spinal cord of ALD patients. This cell that originates from the bone marrow and circulates in the peripheral blood could thus be corrected by gene therapy vector, multiplied in culture to a sufficient number that could be infused several times to increase efficacy. This would be an alternative to full bone marrow trans-plantation, would increase efficacy and would avoid the need for myeloablation.

Finally, in parallel to that work, we plan to start a clinical trial in France to evaluate the efficiency of anti-oxidant treat-ment in ALD patients, as was already initiated by Aurora Pujol in Spain.

ALD LIFE CONTACT INFORMATION:

ADVICE LINE - 020 8473 7493

PENGE SHOP/OFFICE - 020 8778 1144

SYDENHAM SHOP - 020 8659 7171

FOREST HILL SHOP - 020 8291 0077

EMAIL – [email protected]

PO BOX 43642, LONDON SE22 OXR Please note the advice line is at Sara’s home so there may not always be an answer, but leave a message and

she will always get back to you. The shops are open seven days a week and the office Monday to Friday.

IMPORTANT INFORMATION FOR ADULT MALES

ALD LIFE NEWS

Following Ayden’s recent follow up with Dr Vellodi at Great Ormond Street we feel it is incredibly important to relay the following information. He reports there is a worrying trend in our young men turning 18 not going to regular check ups, in particular discontinuing their MRI scans.

As you have just read 35% of males with AMN will go on to develop cerebral ALD but there are now options which are becoming increasingly tangible as time goes on. Already one adult has been transplanted in France following signs from his MRI scan.

We all know that you guys are not good at this doctor stuff but please, please don’t play with your lives like this—think of your families and other sufferers. It’s not pleasant having to go for regular check ups, tests and so on, particularly if there are no changes or treatments ap-parent for your current symptoms. But things do change and as part of our objectives ALD Life is committed to trying to ensure the safety of future patients with ALD. To do that we urge you all to consider that all test results and prognoses of ALD and AMN are invaluable both for research and, more importantly, for your own health. Al-though early days, if enough of you keep getting those

MRI scans, then treatment for men progressing on to the more devastating ALD symptoms will get better and bet-ter. WE MUST START THIS TREND NOW FOR THE

FUTURE. So please, please, if you do not get scanned regularly now, or have stopped having MRI scans, then has-sle your consultant and let’s make this standard procedure for all. Even if you feel it’s something you don’t want to do, think of those countless others who may benefit from your actions.

AND MORE ALD LIFE NEWS

ALD COMMUNITY ON LINE New technology, particularly online tools such as social media, will play a large role in both encouraging and enabling increased giving. ALD Life wants to be on the front line on this issue. We are a patient’s support group and we are part of this strong community of patients, families, friends, colleagues, relatives, and friends of friends and so on. We think that social media will be fundamental for an organisation like us for improving links with supporters, sharing ideas and information and increasing the funds raised. If you are using social media, please, do support ALD Life in spreading the word. You and your friends can join us on Facebook, Twitter or Linkedin.

Check our website as well to see how it has changed to give you an even better experience!

THE ROUTE MAP PROJECT The Route Map project, headed by Paola, is getting on very well. We have done a lot, thanks to the many of you that have contributed to the project with their personal stories, thoughts and suggestions.

The report from the first survey around the experience of patients and families affected by ALD or AMN is now ready. The survey has been conducted within the ALD Life community and gives new facts and figures on the diagno-sis process, passing through the communication of the disease, the effectiveness of treatments and the rela-tionship with the specialists. You can see all this informa-tion at ald-amn.info.

This is the first step to understand more about the needs and the problems of having been diagnosed with ALD or AMN from the point of view of patients and families.

The first draft of the Route Map is now ready and it will be tested soon with patients and NHS professionals. If you would like to be part of the project, please do not hesitate to contact us.

The deadline for the official launch is next year and we are working hard to ensure that the Route Map will re-ceive endorsement from the NHS and the organisations of specialists in the UK.

Check out our website and social media to be updated!

For those of you unaware of what the Route Maps project is, ALD Life was given a grant last year along with a num-ber of other rare disease charities. This was to develop a series of “Route Maps” for patients to give to their medi-cal specialists to ensure the right route through their treatment is taken. It is not just a medical document but also points the way to which services, including social ser-vices, education and community health, you need to utilise and what they should be doing for you. We feel this is an important step forward in ensuring patients can advocate adequately for themselves once they have their diagnosis.

CIRCLES OF GIVING Included is a form for you all to fill out that could really make a huge impact to ALD Life. We want you to tell us who your professional, personal and public circles are (so far as you are prepared to disclose of course!). The aim of this initiative is to expand our mailing list and get our message and news across to as many people as possible. We know that not everybody reads our emails, letters and the like, but the more people we get them out to the more people will get to know and recognise our name. We are already doing so well with our public profile on the internet and in certain areas of the country. Help us to extend this and the potential for raising even more money, awareness and support for ALD and AMN. It’s a really low impact way of helping us out and won’t take you long to do, so please, take some time and help us get that message out.

I KNOW WE’RE ALWAYS BANGING ON ABOUT

THIS BUT DO REMEMBER THAT ALD LIFE IS YOUR

CHARITY. WITHOUT YOUR CONTINUED SUPPORT

WE WOULD NOT BE WHERE WE ARE TODAY. WE

KNOW WE’RE NOT PERFECT (YET!) BUT WE ARE

GROWING MORE THAN WE EVER DREAMED OF

AND NOW, MORE THAN EVER, ARE IN A

POSITION TO MAKE SOME REALLY POSITIVE

CHANGES IN HOW ALD AND AMN ARE MANAGED.

SO PLEASE DON’T BE SHY ABOUT COMMENTING

ON WHAT YOU DO AND DON’T LIKE, ASKING US

QUESTIONS AND SHARING YOUR OPINIONS.

YOU ARE THE HEART AND SOUL OF ALD LIFE. THANK YOU ALL FOR YOUR SUPPORT!

ALD LIFE WEEKEND EVENT 2012

AND MORE ALD LIFE NEWS

After four successful weekend get togethers in London we have decided to venture elsewhere for 2012. We know that many of you are concerned with the expenditure required for the weekend and, while we do not want to take anything away from the existing format, we have made a decision to change it slightly for next year.

We noticed that numbers for the Information Day had dropped significantly so we will not be having a whole day dedicated to this next year. We will still update you on re-search, what we’re doing and have workshops and sessions involving health professionals. However, we have decided to only provide accommodation for the Saturday night with activities taking place during Saturday and Sunday. As a compromise we have decided that we can still provide ac-commodation on Friday evening for those that require it. However, unless you are accompanied by a child or adult with significant disability, we will be charging £50 per adult (children will not be charged). Following feedback from pre-vious weekends it has been noted that many of you are wor-ried about the expense of the weekend and we feel this is an appropriate way to deal with this.

So, for 2012, the magic dates for your diary are:

SATURDAY 26TH & SUNDAY 27TH MAY

And the venue is:

THE BELFRY HOTEL IN SUTTON COLDFIELD

The hotel boasts three golf courses, a night club, spa and we have chosen the middle of the country in the hope that it might encourage more of you to come. We have yet to finalise the agenda but if you would like to book, then please do so quickly so we can get an idea of numbers and make it the best weekend get together yet!

So, if you’ve never been before then please consider it—it is the highlight of the year for many of our members so why not come and see what you’ve been missing. The event is completely voluntary and you do not have to join in with anything you don’t want to. However, we know from experi-ence, that most find it a very rewarding experience and come away having made lifelong friends.

Booking form is enclosed and we look forward to seeing you there!

Note we can help with travel if necessary and if you are coming by train we have a charity discount with the Trainline.com so do contact us if you want to take advan-tage of this. There is free car parking at the hotel and we are more than happy to help with any problems you may have with travel, financial or otherwise.

OUR CORPORATE SPONSORS Most of you will know that we now have a corporate sponsor, Exodus Travels, who have chosen us as their UK charity. Sara used to work for Exodus many years ago and it is wonderful to have their backing. They are a fantastic travel agency specialising in adventure travel and trekking for individuals and family groups.

The staff have been very generous in bringing in their donations for our charity shops which we collect every three months or so. They also sell our raffle tickets and merchandise and many staff members have signed up for various runs and sponsored events. This year they set up a fundraising initiative whereby they donated £2 for every person who travelled to Turkey with them and we received a lovely cheque for £2000 from this. They also sponsor two places at our Weekend Get Together event on an annual basis.

We are incredibly proud to have Exodus working with us and would like to take this opportunity to thank them on be-half of all of you for their support and generosity.

If you’re thinking of going on holiday then Sara can thoroughly recommend them and has had some of the best holidays of her life on Exodus trips. As they do various adventure and trekking holidays you could even use a trip to fundraise for us.....!

ALD LIFE INFORMATION DAY & This year’s information day and weekend get together was, again, a wonderful experience enjoyed (we hope!) by all who attended. Many of you were there last June and contributed to making the event so amazing. For the rest, you missed a lot of fun, information, catching up, networking, relaxing, beauty treatments, games, good foods and wine, attractions, chit chatting and many things more!

We started off the weekend with our Information Day hosted by Mark Bostock which detailed research updates from Steven Steinberg and Nathalie Cartier, practical information on dealing with symptoms and a Q&A session with Dr Robin Lachmann. We also had break out groups so those in similar situations could advise and support each other. We also held a focus group for those interested in helping Paola develop our Route Maps Project.

While the adults enjoyed a yoga session, beauty treatments and massages during the Saturday, the children had a ses-sion to design and decorate t shirts and converse boots. They then gave us a fashion show on the Saturday evening—everyone was very impressed with their artistic flair! During the afternoon the children and their parents were given a personal tour of the Tower of London by a lovely tour guide called Vivienne Haxby who donated her services completely free of charge. Those that weren’t decimated by the heat and the long trek to the Tower reported back how excellent the tour was and the boys certainly enjoyed all the gory historical details.

We had our legendary quiz on the Friday evening which was won by Chris and Sheina Ogden, Geoff and Pauline Mahy, and Mike and Pat Hensby. The children’s quiz was won by little Alfie Robson who had unfortunately gone to bed by the time his win was announced, although there was talk that he’d had a little assistance from some of the adults!

Unfortunately the Apps family could not be with us this year due to prior commitments but it didn’t stop Kim from organ-ising her legendary never ending raffle where if you don’t win anything it’s a flipping miracle! Many thanks to Cherie Tay-lor for taking on the ticket sales and organising everything in Kim’s stead this year.

This year our fundraiser of the year award went to Donna Laidler who has two teenage boys with ALD: Lee, who is symp-tomatic and Shaun. She regularly does the Great North Run for us amongst other things and has supported the charity since its onset. This award is becoming a very prestigious accomplishment within the ALD Life community — so why not see if it could be you next year?!

We really hope to see you all again and many more new faces next year at the Belfry—don’t forget to fill in the enclosed booking form and contact us with any queries you may have about the event.

Many thanks to Jon Harrison and Cherie Taylor for providing these wonderful photographs of the event.

WEEKEND GET TOGETHER 2011

AND MORE WEEKEND 2011 PHOTOS!

WE THINK THIS PHOTO JUST HAS TO BE THE DEFINITIVE PHOTO

OF THE ENTIRE EVENT—THANKS TO JUSTIN LAIDLER (HUSBAND

OF DONNA, OUR FUNDRAISER OF THE YEAR) FOR SUMMMING UP

THE MOOD OF THE WEEKEND EVENT FOR ALL OF US!

Well, 2011 has certainly been eventful for us. Although it has brought much sadness to our family it has also brought great joy too so all in all not a bad year.

After a bit of a rocky start, we kicked the year off in style with Alex’s 18th birthday in May which we all feel is a great achievement for him. We had a huge party at a local resident’s hall and had two bands playing. The first band, the Real Bad Habits, we discovered by accident and, as it turns out, they know a lot of Alex’s old school friends which was a fantastically lovely coincidence. They’ve also done a fundraising gig for us and are happy to do as much

as they can for ALD Life so we pass on our gratitude to them. Tyrone’s band, Paradise 9 also played for us that night and everyone danced the night away til about two in the morn-ing. Alex also had his first le-gal pint of Guinness in the pub which he obviously enjoyed!

Lots of special guests turned up from family, old and new friends to school teachers,

carers, nurses and others we’ve encountered through our ALD journey. It really was a very special night and thanks to all who helped to make it so wonderful.

During the summer holidays we went back to the Ty Glyn Davis Trust for our annual holiday along with family friends, kids and dogs. In all we had a fantastic time with eight adults, five kids and three dogs—hectic but fun! We really would recommend this place to anyone with a child or adult with chronic disabilities. It has all amenities including fully profiling bed, hoists, special bath and shower room, lots of extra bedrooms and bathrooms, a huge kitchen and living area and all set in the most beautiful Welsh country-side. Do check out their website at tyglyndavistrust.co.uk. We are definitely going back next year for the third year in a row. We also managed to take Alex camping for a night (in the back of a van with an airbed—don’t ask!). It worked fine enough for Alex although my back suffered so we may rethink our methods for next time!

We also got some fantastic news in that Alex was awarded some compensation for an accident some years ago. We have wanted to take Alex abroad for a long time now but are really very nervous about his wheelchair reaching the other end safely on an aeroplane. After much thought, we looked into cruises and found that there is such a thing as accessible cruising! They just remove the normal bed from a family cabin and you hire a profiling bed and hoist and they are put in for you. Most of the trips are accessible as is the ship. So for Alex’s 19th birthday we will be cruising around the Mediterranean for ten nights—do hope we’re not making too many of you jealous!!! Ayden is beside him-self with excitement and next May cannot come soon enough for us all.

So, on to Ayden—he is still 100% engrafted after his transplant in 2008 (can’t believe it was three years ago now). You really wouldn’t think anything had happened to look at him now which is so lovely. He started secon-dary school in September and has been selected for the gifted and talented group—we are so very, very proud of him. He’s not had an easy ride of things and it is so gratifying to see him getting so much out of life.

So, yes, it’s been a varied year, both sad and stressful, yet also joyous and fulfilling. We look forward to the future and seeing what 2012 will bring for us. X

BABY JOY! A massive congratulations to Anna, Mark and Alfie

on the birth of Annie May Rowell on 5th July, 3.40 am 10lb 2oz!

We’re so happy for you all and hope you’re all sleeping ok!!

HUNT FAMILY NEWS

ISAAC’S TREAT Last year young Isaac Solange, 10, who has symptomatic ALD, was given his greatest wish to meet pop sensation JLS by the wonderful Rays of Sunshine charity. As you can see he had the best time and these photos certainly show one very happy young boy!

MAX GETS ON THE TELLY! Our very own Max Phipps, from Eaton Bray who has sympto-matic ALD featured in Channel 5’s moving series this year, Star-light: For The Children. Viewers saw car fan Max enjoy the drive of his life at the Silverstone track, in a Ferrari California with champion driver Jason Plato at the wheel. The exciting experience was arranged by the Starlight Children’s foundation last year and saw Max riding at 140mph in the sleek Ferrari with British Touring Car Champion and Fifth Gear pre-senter Jason. In the programme, Max talks of his determination not to allow his health problems top stop him liv-ing a full life. He said: ‘It may be there in the background but I am not going to let it stop me doing what I want to do.’ Max’s physical difficulties include problems with his eyesight, breathing and eating. Although his vision is deteriorating, he is still studying AS-level photography and AS-level media studies at Dunstable’s Queensbury School. Dad Steven and mum Elizabeth, who have two other children, Tia, nine and Zac, 13, are very proud of Max. Eliza-beth said: ‘He is very determined to carry on go-ing to school. That’s one of the most normal things that he can do, going to sixth form and seeing his friends. Max’s eyesight problems mean that he will never drive, despite his love of cars, so his trip to Silverstone was all the more precious for him. So a huge thanks and well done to Max for bring-ing ALD awareness to the TV. You can view the programme at channel5.com/shows/starlight-for-the-children/episodes/episode-7-204

HEARTENING NEWS FROM ABROAD Sonia Ferri emailed us last year with her story that we would very much like to share. “My son was seven and a half years old when diagnosed with ALD—he showed signs already and there was already brain damage. He was given ten months to live. Having very little options, we chose to undergo cord blood transplant even though there was a possibility that things would go wrong. On September 7 2007 he received a cord blood transplant and had a very lengthy stay at the Sick Chil-dren’s Hospital in Toronto, Ontario. He stayed ten months hospital due to various viruses and infections. Today he is doing just fine—although he has optic atrophy, he is going to school with support, he is playing soccer and ball hockey and is not confined to a wheelchair as everyone was antici-pating—to me that is a miracle. Sonia x”

Virginia Prifti sent us a photo of her son, Laurence’s tree. Laur-ence passed away from ALD in July 2005. As well as sending be-reavement grants to those families unfor-tunately enough to lose their loved ones, we also send a memorial tree to those in the UK. We are so happy to see that Laurence’s tree is thriving and giving a small comfort to the family.

ALD LIFE FAMILY NEWS

THE BECKETT FAMILY Our thanks go to the Beckett family for allowing TV cam-eras into their lives following the diagnosis of ALD for their two sons. Craig, 10 has symptomatic ALD. His brother, Adam, 12, has asymptomatic ALD and recently won an award at the national Wellchild Award Ceremony in August this year

presented by Prince Harry. He was given the Most Caring Child award for his devotion to his little brother since their ALD diagnosis in 2009. Channel Five did a piece on Adam’s award and helped raise awareness of ALD.

A HUGE WELL DONE TO ADAM FROM ALL OF US!

LAURENCE’S TREE

GUARDIAN OBITUARY We thought you might like to read Dr Lee’s obituary pub-lished in the Guardian and written by his sister, Alix.

My brother, Philip Lee, who has died of cancer aged 48, was a much-loved family man, physician and football refe-ree. He pioneered the development of adult services in Britain for patients with inherited metabolic disorders.

Phil was born in Münster, West Germany, the second child and only son of Suzanne and Basil. The family moved back to Britain just three weeks after Phil's birth and settled in Putney, south-west London. Following in the footsteps of his father and grandfather, Phil stud-ied medicine at Nottingham University, where he won several prizes and graduated with honours. He went on to specialise in paediatric medicine, working in Cardiff, London and the Mersey region between 1987 and 1992, developing his clinical and research skills.

In Cardiff he met Roz, also a doctor, whom he married in 1991. They moved to London, where Phil began his postgraduate work in paediatric metabolic medicine. In 1997, he became a consultant in metabolic medicine, working with children at Great Ormond Street and with adults at University College hospital, where he established the Charles Dent metabolic unit at the national hospital for neurology and neurosurgery.

Throughout his career, Phil contributed to more than 100 published articles and books, and numerous clinical research trials, securing nearly £2.5m in funding for research and patient projects. His work focused on inherited metabolic dis-orders (IMD) such as glycogen storage disease, Fabry disease, phenylketonuria (PKU) and familial hypercholesterolaemia.

These are conditions that affect whole families over generations, and Phil's caring and humane approach was greatly val-ued by the patients he looked after for many years.

Phil recognised that advances in treatment meant that children with IMD were surviving to adulthood, but were then finding it almost impossible to get continuing specialist care. He became a tireless advocate for the needs of adults with IMD throughout Britain and internationally. He was instrumental in developing a specialised metabolic training programme for junior doctors, facilitating the expansion of specialist consultant posts around the country.

Phil had many passions, including a lifelong love of sport, both as a fan and as a participant. He had supported Chelsea FC since childhood and dedicated much of his time to inspiring young footballers through Tedding- ton Athletic FC, which he co-founded in 2006.

Above all, he was an incredibly kind and gentle man who was devoted to his family. He retired from professional life when lung cancer was diagnosed in 2008, and he faced his illness with courage and openness.

He is survived by Roz and their children, Corrie and Josh, his parents and me.

Alix Lee The Guardian, Sunday 9 October 2011

It was with immense sadness that we had to share with you the news that our very own Dr Philip Lee had suc-cumbed to his battle with lung cancer. He will be greatly missed by us all and was instrumental in the setting up of ALD Life. He was our medical advisor from the beginning and I know a huge comfort to many of you who saw him as a consultant specialising in adult ALD and AMN.

We sent a memorial tree and plaque on behalf of all of us connected with ALD Life. Dr Lee’s wife, Roz, sent us the following note which we would like to share:

“Dear Sara, Thank you so much for the lovely memorial tree which you sent from ALD Life—it will give us much pleasure. Phil recently wrote in a letter that he had en-joyed every minute of his life as a doctor, and he cer-tainly got great satisfaction from being able to contrib-ute to patient groups.

I know he was a fantastic doctor and a very special man and we will all miss him hugely,

Best wishes Roz Lee”

We were also honoured to be invited to his memorial gathering at the Garden Room at Hampton Court Palace on Thursday 13th October. ALD Life was represented by Chris Ogden who had worked with Dr Lee closely in orga-nizing the original AMN Days and a joyful day of remem-brance and laughter was had by all. It was strictly not a somber affair and filled with fantastic memories of this lovely man, and, we hear, some rather dodgy photos from his younger days!

We are sure you will all join us in thanks for this most wonderful doctor’s life and all the support, help and ad-vice he gave to both ALD Life and his patients.

REMEMBERING DR PHILIP LEE

Registered office 16 Marcus Garvey Mews, London SE22 0RG Registered charity no. 1106008

A company limited by guarantee incorporated in England Company Registration no. 5142341

REMEMBERING DEPARTED FRIENDS AND FAMILY

Billy George Apps, age 7

Daniel Bray, age 6

James Cowpland

Devin Dreher, age 13

Ronald Edwards, age 68

Jonathan Mark Ellerby, age 41

Marc Elliott, age 6

James Frederick Richard Forrestal, age 33

Timmy Fox, age 13

Sudhir Garg, age 42

Mike Garrett, age 55

Alexander Harrison, age 8

Nora Hemestretch, age 89

Aaron Robert Hultman, age 9

James P Kane sr, age 53

Christopher Andrew Keenan, age 10

Jesse Carljames Lightfoot, age 17

Oliver Liley, age 14

George Ross Martin, age 8

Ruben Daniel Miramontes, age 12

Nathan Kurtis Morganroth, age 6

Donald Morrison, age 45

Lorenzo Odone, age 30

Jonathan Lee Padgett, age 28

Vivek Palanisamy, age 11

Joseph Payne, age 6

Sebastian Pecorini, age 10

Scott Richard Pikarainen, age 20

Lawrence Prifti, age 8

Bailey Robinson, age 7

Joshua Ronquillo, age 7

Stephen Scanlon, age 36

Michael Strangwood, age 13

David John Suppan, age 10

Brenton Tsu, age 26

John Michael Vasquez, age 14

Sammy Zeltser, age 10

NEVER FORGOTTEN ....

“I’ll lend you for a while a child of mine,” He said. “For you to love the while he lives and mourn for when he’s dead. It may be six of seven years, or thirty two or three, But will you, till I call him back, take care of him for me? He’ll bring his charms to gladden you, and should his stay be brief, You’ll have his lovely memories as solace for your grief.” “I fancied that I heard them say, “Dear Lord, Thy will be done! For all the joy Thy child shall bring, the risk of grief we run. We’ll shelter him with tenderness, we’ll love him while we may, And for the happiness we’ve known, forever grateful stay; But should the angels call for him much sooner than we’ve planned, We’ll brave the bitter grief that comes and try to understand.”

Close your eyes and think of one wish Think of a moment your memory’s cherish It’s simple and hard to pinpoint just one You have so many since you are a Mom You’ll wish to end way and bring world peace You’ll wish to end hunger for elderly and kids You’ll wish to be able to warm up peoples’ hearts You’ll wish to connect all the disconnected dots There is so much worry and love your heart holds You hope for your children to be near when your old There is only one heart that is filled with sunlight Sleepless nights, child crying at night... Filled with a goodness of hugs, love and care the only one heart mother’s heart can bare

Don’t lay me in some gloomy churchyard shaded by a wall, Where the dust of ancient bones has spread a dryness over all, Lay me in some leafy loam where, sheltered from the cold, Little seeds investigate, and tender leaves unfold There, kindly and affectionately plant a native tree, To grow resplendent before God and hold some part of me, The roots will not disturb me as they wend their peaceful way To build the fine and bountiful from closure and decay, To seek their small requirements so that when their work is done I’ll be tall and standing strongly in the beauty of the sun.

JAMES

FREDERICK

RICHARD

FORRESTAL

God saw you getting tired When a cure was not to be. So He closed His arms around you, and whis-pered, “Come with Me”. You didn’t deserve what you went through, so he gave you rest. God’s garden must be beautiful, for He only takes the best

SCOTT RICHARD

PIKARAINEN

SAMMY ZELTSER

JOAN HUNT