THANK YOU FOR ALL YOUR SUPPORT IN 2007!!!
It's A Knockout Was A Great Success.
A Good Day Was Had By All .
The Masked Ball was a Triumph.
WE RAISED £12,500 IN 2007
To Go To Great Ormond Street For The Research Into This Condition.
Connor and his Mum presenting the cheque in Jan 2008
Our Running Total is Now £30,000 in Donations to Great Ormond Street.
2008 Fund Raising Has Started - If You Are Interested In Participating In
ITS A KNOCKOUT 2008 PLEASE CONTACT
Rachel on 07944939740 r.carberry@ntlworld.com
Contact Sue on 07894253931 jkilby585@aol.com
Connor Wright Shwachman-Diamond Project in Association with G.O.S.H.C.C Would Like To Thank
ANYONE WHO HELPED / CONTRIBUTED / DONATED TOWARDS OUR AIMS - FUNDING RESEARCH INTO THE SYNDROME. WHAT IS SHWACHMAN-DIAMOND SYNDROME?
Shwachman-Diamond Syndrome (SDS) is genetic and an inherited condition. It is a very rare, complex disease because it is a multi system disorder affecting particularly the pancreas, bone marrow and skeleton. Next to Cystic Fibrosis, it is the most common cause of pancreatic insufficiency in children.
The pancreas fails to produce the enzymes essential to digest food properly. Because of the pancreatic dysfunction (malabsorption), the child does not absorb enough nutrients, most commonly the fat-soluble vitamins, to grow and develop normally. Oral enzyme replacement therapy helps these children to digest their food, up to 30 tablets a day, but many still need to take special vitamin supplements. Improving nutritional status does not necessarily improve the growth of children with Shwachman-Diamond Syndrome.
The bone marrow, where blood cells are produced, is also affected in Shwachman-Diamond Syndrome. White blood cells, which fight infection, are most commonly affected. Neutropenia is the most common hematological abnormality in SDS, though all blood cell lines may be affected. Anemia and blood clotting problems are also common in SDS patients. Because of the bone marrow dysfunction, these children are at a greater risk of developing life-threatening infections. Shwachman-Diamond Syndrome is considered to be a bone marrow failure syndrome, because up to 30% of these children will develop leukemia or aplastic anemia.
