Shwachman-Diamond Syndrome

[jmlmowery]

Hello-
I am new here and have read a lot of the messages regarding MDS and Aplastic Anemia. I am totally sympathetic to all of your problems. I guess I want to introduce you to another rare disease which causes bone marrow failure. It is Shwachman-Diamond Syndrome. A child is born with this disease which invloves the marrow not producing enough white blod cells and may also not produce enough red cells or platelets. There are other physical problems which also affect the patients. But the bottom line is that it is the marrow which will fail. The patient can be a year old or 50 years old but at some point they will either develop leukemia, MDS, or aplastic anemia.
Years ago, patients did not live into adulthood but with improvements in medical science they now do.
We need a place to share are concerns--many of which are exactly like yours and we hope we can feel welcome here.
Joan

[triumphe64]

There is a similarly named disease (Diamond - Blackfan) that is a genetic cause of Pure Red Cell Aplasia. It appears in childhood. How are these the same, or different?

[Marlene]

Hi Joan,

Yes, you are welcome here. I can certainly see how all bone marrow disorders have many things in common. We learn so much from each others' experience.

I know that my husband was tested for Fanconia and Black Diamond in order to diagnose his SAA. I was surprised to find out that these genetically caused anemias could appear so late in life. I think they were pretty sure it was SAA but said if it was some gentic form of anemia, that the treatment for SAA would not be effective. We were fortunate to have a very thorough doc. I am not familiar with Schwachman-Diamond either.

What is the treatment for this? Is it usually a BMT?

Marlene

[jmlmowery]

What seems to be the difference with the genetic syndromes, i.e. Fanconi, Diamond-Blackfan and SDS is that they are mulit-system disorders. Basically no cure has been found for any of them. The muliple problems caused by the syndromes make the patients less likely to respond to transplants. although some patients do have "successful" transplants that does not help the other aspects of the disease.
For instance -in the case of SDS- there are issues with the skeleton, pancreas, and can also involve the kidneys, liver and other organs.
Many reserachers feel these syndromes are pre-leukemic syndromes.

[jmlmowery]

Hi-
Diamond Blackfan primarilty affects only the red blood cells. Shwachman-Diamond primarily affects the white blood cells--especially neutrophils. But it can also invlove all three cell lines.

[Marlene]

That makes sense....thanks so much for explaining it. I now remember reading about that a long time ago but quickly purged it from brain if I didn't need to worry about it. I recall looking at John for these "other" indications and of course did not see any. But I did have my magnifying glass out at the time .

I can see how much more complicated treating the genetic syndromes are.

Take care,
Marlene