Shwachman-Diamond Syndrome (SDS)

Children can’t catch (acquire) Shwachman-Diamond syndrome. If they have it, it means they’re born with a gene mutation from both parents that affects several parts of their body — but most often their pancreas, bone marrow and bones.

SDS can be hard to diagnose and treat because it has many symptoms and can affect several different areas in your child’s body. Your child may be diagnosed with SDS at birth or soon after. But sometimes, it takes until early childhood for symptoms to show up. In rare cases, it might not be apparent until adolescence or even young adulthood. Having providers who are familiar with this condition is the first step to getting the best results from treatment.

What to expect at your child’s first visit

We understand that you (and your child) may feel overwhelmed by all of this. That’s why our providers are here to walk you through everything to expect, step by step. We don’t just jump into an exam and testing. We take the time to get to know you and your child first.

Their provider will first ask you and your child to share their story. It’s important for your child’s provider to understand what’s been happening. So they’ll ask you about your child’s symptoms — how long they’ve had them, if they’re getting worse and how they’re affecting your child each day. Feel free to ask questions, too. We’re here to listen and help.

While your child is here, they’ll also get a physical exam. Their provider will look for (and ask you about) signs of SDS. These may include short arms and legs, a curved spine, irritability, fatigue, a bell-shaped chest and short stature (height).

Testing for Shwachman-Diamond syndrome

If your child’s provider thinks your child might have SDS, they may recommend other tests to confirm this diagnosis or to rule out other conditions with similar symptoms. Tests may include:

• Complete blood count.
• Other blood tests to check vitamin levels.
• Bone marrow aspiration.
• Bone marrow biopsy.
• Pancreas function tests.
• CT scans.
• X-rays.
• Genetic testing.

Our child life specialists can help your child prepare for and understand any tests and treatments they may be having. This can help to lower their anxiety and stress about having medical treatments.

Meet Our Schwachman-Diamond Syndrome Team

We believe in a team-based approach to care at Cleveland Clinic Children’s. This means your child will have a team of different providers from different specialties, all chosen to meet your child’s unique needs. Their care team may include:

• Pediatricians.
• Hematologists.
• Oncologists.
• Rheumatologists.
• Endocrinologists.
• Orthopaedists.
• Gastroenterologists.
• Radiologists.
• Pathologists.
• Genetic counselors.
• Nurse practitioners.
• Social workers.
• Physician assistants.

These experts work together to plan your child’s care, always focusing on them and their needs. They’re also here to support your family through every stage.

We carefully build your child’s treatment plan around their unique SDS diagnosis and needs. No matter which symptoms they have, they’ll need treatment for the rest of their life. We offer treatment options that will help them lead the fullest and most active life possible with SDS.

Pancreatic treatments

Kids with Shwachman-Diamond syndrome often have a condition called exocrine pancreatic insufficiency. This means their pancreas isn’t making enough chemicals (enzymes) to help their body digest fats and proteins. Your child’s providers may recommend:

• Nutritional counseling: Our dietitians create a meal plan for your child that makes sure they’re getting enough nutrients.
• Vitamin supplements: Your child may take these to make up for nutrients they’re missing because of poor digestion.
• Pancreatic enzyme replacement therapy (PERT): These enzyme supplements break down food into smaller nutrients so they’re easier to digest.

Bone marrow treatments

We often don’t treat bone marrow problems unless your child has serious complications. Our treatment options for children with bone marrow conditions include:

• Antibiotics, to treat bacterial infections that can happen because of low white blood cell.
• Blood transfusions, to help increase blood cell levels.
• Platelet transfusions, to help with bleeding problems.
• Granulocyte-colony stimulating factor (G-CSF), to boost the number of neutrophils (the most common type of white blood cells).
• Stem cell transplant, to treats severe blood cancers and other blood conditions that some children with SDS may develop.

Skeletal system treatments

Your child with SDS could have a narrow, bell-shaped chest, scoliosis (curved spine), unusually short arm and leg bones, misshapen fingers or hips that are out of line. If they have any of these things, our pediatric orthopaedic team will keep a close eye on them. They may also recommend orthopaedic surgery, like:

• Corrective osteotomy: We help your child’s hips line up by moving their hip socket.
• Screw fixation: We keep your child’s hips in place and prevent them from slipping by inserting screws in the top of their thigh bone (femur).

Lifelong care

Your child will need treatment throughout their life. And we’ll help them transition to adult care at Cleveland Clinic when the time is right. Follow-up care will include regular checkups and testing. These appointments help us keep a close eye on your child’s progress and quickly respond to any changes in their body with updated treatments.

Taking the Next Step

You want to give your child every opportunity to enjoy life and do kid things while living with Shwachman-Diamond syndrome. Finding the right care for them can help you do just that. Cleveland Clinic Children’s expert pediatric providers are here to help you find treatments that work best for your child at all stages of their life.