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We hope you'll enjoy this short informational video on SDS. Check it out and be sure to share with family and friends!

Shwachman Diamond Syndrome (pronounced shh-wock-man diamond syndrome) is primarily a bone marrow failure disorder accompanied by pancreatic insufficiency and often bone abnormalities, too. The bone marrow is responsible for making cells in the body. Those affected with SDS struggle to produce healthy and/or a sufficient number of blood cells which are essential to sustaining a healthy life. The pancreas does not function sufficiently, making it difficult to absorb an adequate amount of essential vitamins, minerals, and nutrients which can lead to malabsorption and issues associated with malabsorption.

Genetic testing is available for Shwachman Diamond Syndrome.

Setting the Record Straight

Shwachman Diamond Syndrome is difficult to describe and perhaps even more difficult to understand if you are not well-versed in medical terminology and jargon. There is a steep learning curve that occurs when most families embark on the path to diagnosis and sometimes an even steeper learning curve once they receive the diagnosis of Shwachman Diamond Syndrome. The table below is an attempt to clarify some common misconceptions families of individuals with SDS have encountered:

SDS is... SDS is NOT...
rare common
congenital (present from birth) contagious
genetic (mutations on the SBDS gene) a chromosomal disorder
a compromised immune system an autoimmune disorder
pancreatic insufficiency (decreased ability to properly digest foods) occasional diarrhea from indigestion and/or foremilk-hindmilk imbalance in the breastfed infant
small stature lack of caloric intake, “picky eaters”, small because both parents are small
predisposition to anemia anemia due to diet
frequent appointments and hospitalizations something a parent chooses for their child
serious and can be life-threatening a minor condition
manageable curable (yet!)
ANC, EPI, BMBs, and CBCs… OH MY!

These words are some of the most commonly used terms when discussing SDS. A great way to support families of individuals affected with SDS is to learn at least a few of these terms to better understand what’s going on when the family is communicating with you.

  • CBC - stands for "complete blood count"; an analysis of the standard components of blood (i.e. red blood cells, white blood cells, platelets, etc.) which can give important insights to a patients health

  • People with SDS often have a CBC drawn every three months to monitor the condition.
  • CBC w differential - further analysis of the CBC, includes a greater breakdown of the elements

  • ANC - stands for "absolute neutrophil count"; the number of neutrophil granulocytes, a type of white blood cell, in the blood at the time the blood was drawn

  • People with SDS often have low ANCs which puts them at an increased risk for bacterial infections.
  • Neutropenia - neutropenic, when the number of neutrophils (a type of white blood cell) is below range for a person's age and gender which puts them at an increased risk for infection

  • "My child needs to stay home due to neutropenic precautions."
  • BMB - stands for "bone marrow biopsy"; a procedure to collect a sample of the bone marrow for greater insight to the health and stability of a patient; a needle is inserted into a bone to withdraw the bone marrow tissue for further analysis

  • People with SDS often have BMBs done annually to monitor stability and assess progression of their condition.
  • Bone marrow failure - the inability to produce healthy and/or a sufficient number of blood cells

  • SDS is a bone marrow failure disorder.
  • Exocrine pancreatic insufficiency - aka EPI or PI, a lack of digestive enzymes necessary to breakdown and digest foods properly

  • "She did not take her enzymes earlier so she had a PI poop."
  • Thrombocytopenia - when the number of platelets is below range for a person’s age and gender

  • "I need to know if my child gets a bloody nose because she has thrombocytopenia and it may take a long time to get it to stop bleeding."
  • Platelets - cells that help with clotting to stop bleeding

  • "He needed a platelet transfusion to prevent serious bleeding."
  • Neutrophils - a type of white blood cell that fights infection, specifically bacteria

  • People with SDS commonly struggle to make enough neutrophils to protect them from a bacterial infection.
  • Creon - a brand of pancreatic enzyme medication that helps to break down and digest food properly

  • "They must take Creon capsules with every meal to avoid malabsorption."
  • ADEK - fat-soluble vitamins

  • People with SDS often have low levels of vitamins A, D, E, and K.
  • Fat-soluble - absorbed and stored in fat

  • Vitamins A, D, E, and K are fat-soluble.
  • Hem/Onc - short for Hematologist/Oncologist

  • Hematopoietic - the formation of blood cells and blood

  • A hematopoietic stem cell transplant is a bone marrow transplant that can save the life of someone with SDS but it is not a cure to the condition.
  • Hematologist - a medical doctor who has pursued additional schooling to have an advanced understanding of blood disorders

  • "My child’s hematologist takes a great interest in SDS and is a strong advocate for my child."
  • Gastroenterologist - also referred to as a GI doctor; a medical doctor who has pursued additional schooling to have an advanced understanding of digestive organs

  • "The GI tested his pancreas and discovered that it’s not working properly."
  • Endocrinologist - also referred to as an "Endo"; a medical doctor who has pursued additional schooling to have an advanced understanding of hormones

  • "We discussed growth hormone therapy with her Endo because she has a growth hormone deficiency."
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