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December Newsletter Immune Defi ciencies Foundation of New Zealand December 2013 A Christmas message from onto the Board as our second Medical the Chair, Vicki Tattley Advisory Panel (MAP) representative. Our Upcoming medical panel has been in the process of re-forming and we are very fortunate to have a wide representation of wise Events and willing advisers. We are immensely appreciative of the volunteer time and The IDFNZ Board and staff would like advice our doctors give to our organisation. to wish members and supporters Merry Christmas and Happy New Year On this note it is timely to remind our members that IDFNZ receives NO government funding and to operate we Key events to look forward to in 2014: Another year has fl own past with lots must be self-funding. We feel that the IT’S OUR BIRTHDAY! happening within the Foundation and cost of illness to families is large enough In 2014, IDFNZ celebrates 25 years of amongst our families. and therefore have never charged a patient support for PID families subscription to join. In order to raise In October we held our AGM. This year funds, you will be aware that we have held 28th February 2014 three positions were available for four-year a number of different activities this year – RARE DISEASE DAY tenure and were fi lled by Laura Hannah, RazzaMaTazz, and fi reworks fundraisers Promoting awareness of liver disease Katy Brown and me. Laura, an adult to name a few – and we have called upon patient member, has been on the Board our members to assist. 29th April 2014 for a number of years and her experience World Day of Immunology is invaluable. Samantha Sutherland, a To those who volunteered - thank you 2nd May 2014 transplant parent, sadly decided to stand so much. I must also recognise some of down after serving two years as our fi rst our individual members who have raised PID National Conference – All welcome transplant parent representative. Over her amazing amounts for us this year, with the time on the Board, her contribution has likes of the Auckland Marathon and All Family Conference 2014 been signifi cant and she has played a huge for Good. I fi nd it hard to put into words role in the development of educational our thanks to these individuals for their initiatives for liver transplant children/ personal achievements for the good of our families – thank you Samantha – we will organisation. We must also thank Smith & be keeping in touch with you, never fear. Smith who are always willing to help out Katy Brown has been co-opted onto our where they can in volunteer roles. Board for the last two years, making a huge contribution to our Foundation Due to the support of so many, we have communications, and now takes up the had a good year with fundraising but elected transplant position on the Board. encourage you all to contribute in whatever way you can as we move into another year Help us to celebrate 25 years of We were very saddened to see Judith of fundraising. It is important to remember IDFNZ supporting PID patients. More Dickson, our Chair of the last three years that without such help we cannot provide information will be provided nearer step down. Recognition is well deserved for the services we do. the time but be sure to add this to Judith who is a very humble, hard-working your diary! lady for whom I have the greatest respect I look forward to meeting many of the and admiration. Judith has been a member Auckland families at our Christmas party. for over 20 years and in her role as Chair, I would like to take this opportunity to helped to steer us through some diffi cult wish everyone a Merry Christmas and a Visit our new online shop times as we faced a recession and the Happy New Year. For some of you it will be www.idfnz.org.nz/shop money available to charities diminished. a case of just getting through this period Judith has kindly elected to stay on the without hospitalisation/illness (for fi ve Board, for which we are very fortunate. I years in a row when our son was small was asked and voted into the vacant role we spent every Christmas Day at the after of Chairperson. If I am able to represent hours – the fi rst year we got through the the organisation as ably as Judith has, I day was amazing), so to those who face will be well pleased. She will also be there this uncertainty, or to those who have to support me as I transition into this role. suffered the loss of loved ones, take care, At the AGM we welcomed Miriam Hurst my thoughts are with you all. from the donor may recognise the patient’s Bone marrow transplantation for PID cells as ‘foreign’ to it and react against them. GvHD can cause problems with the A growing number of PID conditions can related donor, this is usually a brother or a skin, liver and bowels. Also, immediately now be treated by BMT. It can sound sister, or a well-matched unrelated donor. after the BMT, the patient remains very very daunting to parents considering this Occasionally, a less well matched (mis- immune-deficient and susceptible to treatment for their children, this article matched) donor may be considered. In infection. It may take 4 - 6 months for the is aimed at answering some of the many order to allow for these new cells to grow new immune system to grow and function questions asked. In addition we have and develop the patient has to undergo properly and during that time, prophylactic included three personal stories from some ‘conditioning’ involving chemotherapy to antibiotics and immunoglobulin will need of our PID families that have experienced make space for the new stem cells and to to be taken. first-hand what BMT is all about. suppress the immune system to encourage acceptance of the new cells BMT should start to be considered soon Bone marrow transplantation (BMT) is now after a diagnosis of a PID. This is because a cure for many primary immunodeficiency How long does it take? BMT involves better outcomes are usually achieved conditions with huge advances in the last a long (on average 6-8 weeks although if those affected do not have a history twenty years in success, survival rates it may be longer) stay in hospital during of serious infections or inflammatory and the range of PID conditions able to be which time the patient is looked after in problems. This means that doctors will treated by BMT. an isolation room on a transplant ward. want to test siblings to see if they are a This ward will have more restrictions on tissue-match, or if they are not they can What is bone marrow? Bone marrow is a visiting, diet and hygiene than a general then start to find a well-matched unrelated soft, spongy tissue found in the centre of ward. This is because during transplant the donor. The doctors are also then able to bones. It is responsible for producing the patient’s immune system is low and extra give appropriate counselling over a period three main types of blood cells: red blood precautions are necessary to protect them of time to help people make this important cells, white blood cells making the cells from infection. decision once a suitable donor is found. of the immune system and platelets. All Individual risk factors and suitability of these start off as immature cells called What is BMT Success? In recent years, should be discussed with doctors and ‘stem cells’. These cells mature in the there has been steady and significant nurses involved in your care. It is important bone marrow and are then slowly released progress in BMT techniques and recent to remember that although a person’s PID into the blood stream. A bone marrow or results for PIDs are now extremely good. may be cured by BMT, the inheritance stem cell transplant involves collecting Survival and cure are now equivalent with issues of passing their condition to future healthy cells from a matched donor and either a matched sibling or well-matched offspring still remain. introducing them into the PID patient . unrelated donor and reach 85–90% in These new healthy stem cells then start specialist centres designated to transplant A growing list of PID conditions that can to make fully functional white blood cells PID patients. Whilst transplantation is be treated by BMT includes: various forms capable of fighting infection. generally best tolerated in childhood, of SCID, CID, CGD, HLA, Omenn syndrome, successful outcomes are now possible other T-Cell deficiencies, Wiskott-Aldrich What is involved? The PID patient receives in young people and adults using new syndrome (WAS), DiGeorge syndrome and bone marrow (or sometimes stem cells transplantation techniques. However, Shwachman-Diamond-syndrome, various collected from the umbilical cord blood bone marrow transplant is not without risk. Diseases of immune dysregulation of babies), from a donor who shares the and Immunodeficiencies with hypo- same ‘tissue type’ as them and is therefore What are the risks? The main risks are pigmentation. Talk to your immunologist called a ‘match’. Two types of match are infection and Graft-versus-Host disease for more information. normally considered: a perfectly matched (GvHD). In GvHD the new bone marrow Article adapted from http://www.piduk.org doctors found this, they did further blood Iziyah’s journey through CGD and BMT tests and found that Iziyah had a rare PID condition called Chronic Granulomatous Meet Iziyah - a bubbly 2 year old Auckland Disease (CGD).
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