And We Think We Have It Bad

Shwachman-Diamond syndrome is a congenital neutropenia - and more. First identified in 1964, this congenital disorder typically manifest within the first year of life. It frequently presents as failure to thrive and recurrent infection. In addition to bone marrow dysfunction which can cause not only neutropenia, but anemia and low platelet counts, this disease also affects the pancreas. The pancreas is an organ which produces the enzymes needed to digest food and nutrients. Children with SDS are usually very small for their age and most patients remain quite short throughout their lives.

Getting diagnosed is difficult because SDS is a rare disease and not well known in the medical community. Also, there is no specific test to identify it. Treatment involves enzyme replacement therapy, and aggressive treatment of infections. Unfortunately, some patients do develop bone marrow failure or leukemia. Only limited success has been achieved through bone marrow transplants - again, because of lack of knowledge and research about the disease.

I would imagine the average person reading this might think - WOW! What a terrible disease. And you are right. Now, try to imagine how you would feel if you were the mother of a SDS kid living in Russia and could not even obtain the enzymes to digest the food your child ate, much less have access to anti-biotics or G-CSF to help him through infections.

This is exactly what I was confronted with as I read my email a couple of weeks ago. I sat in dismay. I cannot even imagine the despair and desperation this mother must have felt as she sent out messages asking for help for her child. An intelligent, college educated mother of a 4 year old boy. She speaks fluent English. She sought out a computer with internet access and websites of groups who might be able to help.

We were more than happy to help her and I have already been advised that the first package of drugs has reached her.

My point in telling this story is to bring home the point that there are others in the world who are dealing with the same diseases we are and have little or nothing available to help with help their child.

We were very happy we could help this mom. And we're here for any other mom who needs help.

Shwachman-Diamond syndrome International
5195 Hampsted Village Ctr. Way, PMB #162
New Albany OH 43054 U.S.A.
1-877-SDS-INTL (toll free) or outside the U.S.) 1-614-939-2324
www.shwachman-diamond.org
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