A Lost Email Update

[Guest guest]

Hey All

I wanted to re-update something that I think got lost in email land....lol

In January they offically changed my Cf diagnosis to another similiar genetic

disease (why do genetic disease have to be such a pain in the butt).Anyways

it is called Shwachman Diamond Syndrome. Basically its a problem in the bone

marrow and stuff they symptoms are Pancraetic Insuffiency ( 2nd leading cause of

pancreatic insuffiency in kids next to CF) chronic infections, joint

problems, liver problems, yada yada yada

The kids who have it really bad are prone to cancer and aplastic anemia

although, SDS patients are allows prone. So I will have the wonderful pleasure

of

having bone marrow biopsies every 6 months after transplant and before.

What happens in my case are the infection fighting cells in the body have a

bad sense of direction and get lost so that you have no way to fight something

as simple as the common cold. I got so many lung infections that I developed

bronchiectasis and all that good stuff.

you get the same bugs in SDS b/c of the lack of infection fighting ability

and at times your Nutrifil , its early so I can't spell, are low so that lets

bacteria in.

Anyways, the rognosis is about the same as CF and the same precautions and

problems found in CF post-tx are the same as in SDS.

I also have to be careful b/c my liver is enlarged....

But this is why I have such severe hip disease. My hips never formed right in

the socket to ..well its hard to describe but the muscles and ligaments and

tendons never formed right around the bones....long story. Some get this and

some don't.

the Skater Hamilton has this disorder. They thought he had CF but

changed the diagnosis on him when he was 3 yo. This is why he is so small and

had

cancer back a few years ago. He is considered very mild....

Anyways....if you want more info I have a transplant website at :

www.mybreathingjourneyhome.freeservers.com

I really want to continue on the Cf email lists just b/c of the lung problems

I have are identical to Cf and the digestive, yada yada yada. As the doc said

same issues different mechanism of getting there.....

Shwachman Diamond Syndrome

http://www.shwachman-diamond.org/

Becki

Life is not measured by the number of breaths we take, but by the moments

that take our breath away.

Listed for Lungs 1/14/04

at

Mayo Clinic ville,Fla.

YOUNGLUNG EMAIL SUPPORT LIST

www.topica.com/lists/younglung

Pediatric Interstitial Lung Disease Society

http://groups.yahoo.com/group/InterstitialLung_Kids/