Mystery Diagnosis: Shwachman-Diamond Syndrome 4

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Uploaded by on Dec 15, 2007

Shwachman-Diamond syndrome (SDS) is a rare congenital disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities, and short stature. After cystic fibrosis (CF), it is the second most common cause of exocrine pancreatic insufficiency in children.

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  • i bet it was really scary for the parents.

    i have sds and when i was born they sad i only had 6 weeks to live but look at me now im 15 and hope to have a long lasting life. i hope for the best for katie and hope she has a long lasting life, i will pray for katie.

  • i'm very happy the bone marrow transplant was successful!! Katie is so brave and strong and looks to have a lot of fun in life. Yay Katie!!

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  • @neilrtucker11 Watch the last two minutes carefully. She's taking enzymes orally, since her body isn't making them naturally.

  • "Dynamite comes in small packages" so true mom! I have a niece with dwarfism and she is a firecracker!

  • even if you do have the bone marrow transplant, do your pancreas still not work well? do people with sds still have to take huge, nasty smelling dumps 10 times a day?

  • hmm that park looks like timber town..

  • God bless u bay girl :)

  • @lovehamsters14 Shwachman-Diamond Syndrome

  • Like, good things come in small packages, and you are very cute. You go, girl!

  • @lovehamsters14 Yeah some are. And it was my dad that figured it out that I had it! So it shows not all doctors are as good as you would think! My dad is a registered nurse and he figured out my problem before they had ever thought of it. This is why i dont trust doctors as much, I'd reather ask my dad cuz I know he's smart in the medical field!

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