Shwachman-Diamond syndrome

What steps will my child and I go through when beginning treatment for SDS at Dana-Farber/Children’s Hospital Cancer Center?

• Before your first visit, our administrative staff will arrange to have a full summary of your child’s previous medical history, labwork and pathology slides sent to us for review.
   
• If you and your child are traveling from a distance, the information obtained before your visit will be used to determine whether your child needs to see any other specialists here. This way, we can coordinate as many appointments for you as possible in the same timeframe.
   
• During the first visit, you and your child will likely meet with David A. Williams, MD, or Colin Sieff, MB, BCh, co-directors of our Fanconi Anemia and Bone Marrow Failure Multidisciplinary Clinic. The clinic will also arrange for you and your child to see other specialists as needed. For instance, your child may be seen by a geneticist, a gastroenterologist and a endocrinologist.
   
• After the first visit (which will include a full assessment, further laboratory tests and other possible steps), your child’s treatment team will develop a care plan for discussion with you. 

What specialties and services are involved in the multidisciplinary treatment approach at DF/CHCC?

Patients with SDS usually require expert care from specialists in hematology, gastroenterology, endocrinology and orthopedics.

In addition, ongoing dental care is crucial. Some children may also require neurodevelopmental monitoring.

Treatment options 

Pancreatic enzyme replacement

Most children with Shwachman-Diamond syndrome experience nutritional malabsorption due to pancreatic insufficiency. Combined with diarrhea—which can range from minimal and mild, to severe (called steatorrhea)— this complication calls for pancreatic enzyme replacement.

The treatment is:

• used to help break down food into smaller, more absorbable nutrients
• taken orally with snacks and meals in powder or capsule form
• sometimes associated with side effects, which may include irritation around the mouth and anus, allergic reactions, nausea, cramping, constipation and a fibrous condition in the colon that is typically only associated with very high doses

Spontaneous improvement is common as children grow older. By age 4, 50 percent of children receiving pancreatic enzyme replacement no longer need the treatment.

Hematologic guidelines

• Detailed recommendations are made when a child with a low white blood cell count (neutropenia) is running a fever.
• Treatment often includes intravenous antibiotics.
• Guidelines will be discussed on an individual basis, and will depend upon the child’s specific neutrophil count.

Growth factor therapy

Children who have frequent infections because of low neutrophil counts may benefit from treatment with a white blood cell-stimulating growth factor called granulocyte colony-stimulating factor, or G-CSF (also known as Neopogen or Neulasta). G-CSF:  

• stimulates bone marrow to make more white blood cells
• is given by injection
• carries both risks and benefits that vary from child to child

Occasionally, a medicine that increases red blood cells (erythopoietin) is recommended.

These growth factors can often be very effective. 

Orthopedic surgery

• The need for this surgery depends on a child's specific skeletal problems.

Blood product replacement

• Blood and/or platelet transfusions may be given to raise counts in children with SDS who are at high risk for severe anemia or bleeding.
• Side effects of these transfusions may include fever, headache, hives, allergic reactions and infection.

Long-term care

Regardless of their specific symptoms, all children with Shwachman-Diamond syndrome require long-term care.

• Long-term monitoring and follow-up is critical.
• Regular tests and examinations are necessary to evaluate each child's health.
• The frequency of follow-up appointments depends on a patient’s overall well-being. Typically, annual visits are scheduled for children without any major problems, and more frequent visits are required for patients experiencing complications.

What extent of symptom improvement can I realistically expect for my child?

With modern treatment options and ongoing management, most children with SDS can expect to lead normal lives, although continued medications and regular monitoring through hospital visits is usually required.

Talk to your child’s doctor for specific information about her symptoms and long-term outlook.

Coping and support

In addition to the clinical information provided on this webpage, Dana-Farber/Children’s Hospital Cancer Center offers several other resources designed to give your child and family comfort, support and guidance. 

• Access our helpful resources for patients with blood diseases and their families.
   
• The Center for Families is dedicated to helping families locate the information and resources they need to better understand their child’s particular condition and take part in their care. All patients, families and health professionals are welcome to use the center’s services at no extra cost. The Center for Families is open Monday through Friday from 8 a.m. to 7 p.m., and on Saturdays from 9 a.m. to 1 p.m. Please call 617-355-6279 for more information. 
   
• The Behavioral Medicine Clinic helps children who are being treated on an outpatient basis at the hospital—as well as their families—understand and cope with their feelings about:
  • being sick
  • facing uncomfortable procedures
  • handling pain
  • taking medication
  • preparing for surgery
  • changes in friendships and family relationships
  • managing school while dealing with an illness
     
• The Experience Journal was designed by Boston Children’s psychiatrist-in-chief, David DeMaso, MD, and members of his team. This online collection features thoughts, reflections and advice from kids and caregivers about living with a variety of medical conditions, the “befores” and “afters” of surgery and going through many other medical experiences.
   
• The Boston Children's Department of Psychiatry offers a free booklet, “Helping Your Child with Medical Experiences: A Practical Parent Guide.” (Adobe Acrobat required to view and download) Topics in the booklet include:
• • talking to your child about her condition
  • preparing for surgery and hospitalization
  • supporting siblings
  • taking care of yourself during your child’s illness
  • adjusting to life after treatment
      
• The chaplaincy is a source of spiritual support for parents and family members. Our program includes nearly a dozen clergy members—representing Episcopal, Jewish, Lutheran, Muslim, Roman Catholic, Unitarian and United Church of Christ traditions—who will listen to you, pray with you and help you observe your own faith practices during your child’s treatment.
   
• Boston Children's International Center is a resource for patients and families from countries outside the United States. The center can provide assistance with everything from reviewing medical records to setting up appointments and locating lodging. Contact the center by phone at 01-617-355-5209 or via e-mail at international.center@childrens.harvard.edu. 

Helpful links 

Please note that neither Dana-Farber/Children’s Hospital Cancer Center nor the Fanconi Anemia and Bone Marrow Failure Multidisciplinary Clinic at DF/CHCC unreservedly endorses all of the information found at the sites listed below. These links are provided as a resource.

• Shwachman-Diamond Syndrome Foundation
   
• Shwachman-Diamond Syndrome Foundation Facebook Page
   
• Shwachman-Diamond America
   
• Shwachman-Diamond Syndrome Canada
   
• Shwachman-Diamond Family/Friends List (Yahoo! Groups)
   
• Shwachman-Diamond Syndrome Support Group (MDJunction)
   
• National Organization for Rare Disorders