Birmingham Children’s Hospital
Noah’s healthcare is managed by the Haemophilia Centre as well as the Oncology and Haematology Department at Birmingham Children’s Hospital. In the past, Funny Blood has raised money for this fantastic establishment and will continue to support their cause in the future.
About Platelet Function Disorder
Dr Jayashree Motwani – Noah’s Consultant at Birmingham Children’s Hospital (Clinical Governance and Audit lead) – has confirmed that his condition is very rare. Jayashree explains that “there is a guideline for management of children with platelet function disorder, published by the UKHCDO. Not all of it is relevant to Noah but of some interest in general”. Other information regarding Platelet Function Disorders include :
Article: Platelet Function Disorders
emedicine.com – Article: Platelet Disorders
About Thombocytopenia
Noah also has an inherited form of mild thrombocytopenia i.e. low platelet counts which may have the same genetic cause as the decrease in platelet function. An inherited thrombocytopenia should not be confused with Immune Thrombocytopenia (ITP) which is normally something that happens in people whose platelet counts have previously been normal – i.e. it is not inherited but “acquired”, then an abnormal immune response causes them to fall (as the immune system attacks the platelets). In adults with ITP, about one third of patient’s platelets go completely back to normal, one third go back to normal then fall back down at some other point, and a third stay low. However, Noah has inherited the condition – as well as Platelet Function Disorder.
ITP Support Association
Funny Blood has teamed up with Shirley Watson and her ITP Association to help raise awareness and share information about this condition.
Give Blood
If Noah has a serious fall or cut he may have to have a Platelet Transfusion so he relies on other people to donate blood and platelets. Just click on the links to see if you can help …
The Haemophilia Society
The Haemophilia Society is a well recognised group and confirm that Platelet Function Disorder falls under their remit – although they do not have a lot of information on this particular blood disorder – due to its rarity. Their website provides an excellent information service for numerous blood disorders and has links to Haemophilia Departments in the UK and Worldwide.
World Federation of Hemophila
The World Federation of Hemophilia (WFH) is an international, not-for-profit organisation committed to improving treatment and care for people with haemophilia and related bleeding disorders. The Montreal-based organisation was founded in 1963 by the charismatic Frank Schnabel, who was born with haemophilia. The WFH carries on Schnabel’s work through an extensive network of volunteers, national haemophilia organisations and healthcare providers in more than 100 countries..
If you’re planning a trip away, it is vital to contact the nearest Haemophilia Department to exchange details – so this website is crucial to help keep Noah safe : WFH Passport or via UKHDCO.
Wellcome Trust
Dr Gill Lowe is a haematology (blood) specialist currently working in the Birmingham Platelet Group which is run by Professor Steve Watson. She researches platelet disorders, including ways to test platelet function when platelet number is low. She is sponsored by the Wellcome Trust on a Combined Training Programme Clinical Fellowship.
Gill said “Diseases affecting platelets are rare and cause lots of problems with bleeding for patients and their families. Further research into these disorders is vital to provide more information to patients and those who care for them, and may change treatment plans. In the long run our research may contribute to developing new drugs to prevent heart attacks and strokes as platelets also play a role in these diseases. Obtaining funding to carry out research is increasingly competitive in the current financial climate, and we rely on grant awards from charities such as the British Heart Foundation. The contribution to the work from Ruby and Funny Blood is much appreciated and will allow us to carry on studying patients who suffer from excessive bleeding”.
Dr Neil Morgan is a HEFC-funded Lecturer in Cardiovascular Genetics at the University of Birmingham. He works alongside Dr Gillian Lowe and Professor Steve Watson within the Birmingham Platelet Group. He has published over 50 research papers in scientific journals in the field of human genetics. His research has primarily involved the identification of novel genes for inherited blood diseases. His current research is focussing on the genetics of patients with platelet bleeding disorders and low platelet counts (thrombocytopenia).
Neil said “The identification of novel gene defects will provide clues to genes and proteins involved in these platelet disorders and ultimately lead to devising new management strategies to minimise the risk of bleeding in such patients”. Funny Blood will help to increase awareness of this group of rare diseases”.
British Heart Foundation
Steve Watson is a British Heart Foundation Professor in Cardiovascular Sciences and Head of both the Birmingham Platelet Group and the GAPP project on platelet function disorders. Professor Watson has published over 250 research papers over the last 25 years and is a Fellow of the Academy of Medical Sciences. He was the 2007 winner of the mid-career UK Nature/Nesta Award for Mentoring in Science. Professor Watson’s research is concerned with all aspects of platelet biology, ranging from the way that platelets become ‘sticky’ upon damage to the blood vessel wall through to the mechanisms of platelet-related bleeding or thrombosis.
Professor Watson’s research is supported by the British Heart Foundation and Wellcome Trust. Professor Watson states “We still have a great deal to learn about the way that platelets are regulated in the body and what goes wrong in disease. Ultimately, this knowledge will pave the way to the development of new antiplatelet drugs and to an increased understanding of the way to treat patients with platelet function disorders. Much of our research is only possible because of the generosity of the public, and such support is especially important in the case of rare disorders such as bleeding and platelet dysfunction. The support from Funny Blood will not only help us to further develop our research, it will also provide wider recognition of platelet function disorders in medicine and in society, and ultimately the realisation that such disorders are more prevalent than previously thought“.
Jon Gibbins is a Professor of Cell Biology at the University of Reading and Director of the Institute for Cardiovascular and Metabolic Research. His research focuses on how platelets perform their important role in the body, causing the blood to clot and how this may go wrong resulting in either bleeding or clotting problems. The Platelet Research Group at Reading that Jon leads forms part of an important network of research labs at Universities – and other Institutions around the UK and internationally – that work together to work out how platelets work normally, what can go wrong and why, and how we can reduce the burden of the diseases linked to abnormal platelet function.
Jon’s research is supported by the British Heart Foundation, the Medical Research Council, and the Biotechnology and Biological Sciences Research Council.
Jon commented “although most people would not realise it, they have probably taken medicines that affect platelet function. In fact the use of medication to reduce the ability of platelets to trigger the blood to clot is extremely common, because this can reduce the risk of having a heart attack or stroke. There is room for a great deal of improvement of these ‘anti-platelet’ drugs because they simply don’t work well in some individuals, and in others they cause side effects. Through our work to establish the cell machinery within a platelet and how this performs its role, we aim to be able to develop more effective therapies with lower levels of side effects.”
“Too little platelet function is much rarer, although this is probably more common than we realise. Huge amounts of research is ongoing to understand these important conditions. The GAPP project headed by Steve Watson and his team in Birmingham is playing a crucial role in this, and will be vital in future treatment of patients like Noah who have ‘funny blood’.
“Medical research is not just about the complicated science, but about the patients and their families, in this case living with platelet disorders. The work that Ruby and Funny Blood have begun in supporting this, and also informing the public is wonderful.”
