Comprehensive Care for Bone Marrow Failure Syndromes

The Bone Marrow Failure Clinic at Cincinnati Children’s provides highly sophisticated and comprehensive multidisciplinary care for children with bone marrow failure syndromes.
Bone marrow failure happens when your bone marrow no longer makes enough blood cells. It can be caused by something that happens to you during your lifetime (such as chemotherapy or an infection) or you can be born with it. A variety of inherited diseases cause bone marrow failure.

Thorough Evaluation, Detailed Treatment Plan

Families usually come to the Bone Marrow Failure Clinic at Cincinnati Children’s to establish a diagnosis or receive a second opinion. First, our team offers a comprehensive evaluation that typically lasts two to four days. Next, we provide treatment recommendations. Before the evaluation, the team reviews test results and other materials provided by the referring doctor. Our evaluation includes:

  • A thorough history and physical examination
  • Blood tests
  • Other tests to assess how the disease is affecting the child’s body
  • If needed, additional consultations with specialists at Cincinnati Children’s
  • An appointment with a social worker who helps families connect with helpful resources

In addition, we encourage families to consult with genetic counselors at Cincinnati Children’s. These counselors can talk with families about the results of genetic tests. Genetic tests are used to help confirm diagnoses and refine the treatment plan. Our team helps schedule these consultations.

Making a Plan for the Future

After reviewing the results of the evaluation, and before the family returns home, members of the care team talk with the family about the child’s health and treatment options. The team also provides a written summary and treatment recommendations to the patient’s family and referring doctor.

Innovative Therapy for Bone Marrow Failure

We offer a broad range of therapies, including some innovative approaches not available at other children’s hospitals. Our multidisciplinary team of experts offers exceptional care.

Among the many treatment options are:

  • Novel medications
  • Blood transfusions
  • Hematopoietic stem cell transplant

Ongoing Care

Children can receive ongoing care at Cincinnati Children’s on an inpatient or outpatient basis, or return home to the care of their referring doctor. Our team is always available to consult with families and their doctors. We see patients once a year to assess their progress and make additional treatment recommendations, if necessary.

Syndromes We Treat

The Bone Marrow Failure Clinic offers evaluation, diagnosis and treatment for all types of bone marrow failure syndromes. Among the conditions we see are:

This inherited disorder causes the bone marrow to produce too few platelets in the blood. Platelets are needed for blood to clot.
Periodically, the bone marrow produces low levels of neutrophils, the blood cells needed to fight infections.
This disease causes the bone marrow to produce too few red blood cells, which are needed to carry oxygen to body tissues. Patients may also have physical abnormalities, such as abnormal thumbs and short stature.
With this disease, all three types of blood cells are low (those that fight infection, those that carry oxygen and those that help blood to clot). Patients also have abnormally shaped fingernails and toenails, a lacy rash on the face and cheek and white patches in the mouth. 
 

Fanconi anemia (FA) is a rare inherited disorder that over time leads to aplastic anemia. It occurs when there is a defect in one of several FA (FANC) genes. FA may be suspected at birth by one or more physical traits affecting the skin, skeleton, kidneys, gastrointestinal tract or genitalia. Our Fanconi Anemia Comprehensive Care Center addresses the many medical needs of these patients.

This inherited disease causes abnormal platelets, which are responsible for blood clotting.
The red blood cells cannot use the iron in the body to carry oxygen to the tissues. Iron builds up in red blood cells, and patients may have a hard time breathing and feel weak and fatigued.
All types of blood cells are low. Patients may have an increased risk of infection, fatigue and shortness of breath and bruise and bleed easily. The disease might be the result of an autoimmune disorder (when the body’s immune system fights itself), but the cause it not known.
Red blood cells are destroyed in the bloodstream because of defects in how they are formed in the marrow.
Extremely rare disease caused by a deficient enzyme called uroporphyrinogen III cosynthase. Symptoms begin during infancy and sometimes cause anemia in a fetus before birth. 
This disease affects the pancreas, skeleton and bone marrow. It makes it difficult to absorb nutrients from food and commonly causes low white blood cell counts, making it hard for the body to fight infection.

Research That Leads to Innovation

Doctors and researchers at Cincinnati Children’s participate in numerous clinical and laboratory research projects designed to improve the lives of patients and find new therapies to treat bone marrow failure syndromes.

In our laboratories, we are working to:

  • Investigate molecular, clinical and genetic mechanisms of bone marrow failure
  • Find new biomarkers that predict prognosis
  • Explore longitudinal changes in blood that predict bone marrow failure
  • Explore novel therapeutics for certain bone marrow failure syndromes

Our doctors partner with other researchers throughout the world to further the understanding and treatment of these diseases. For instance, our team participates in the Severe Chronic Neutropenia (SCN) International Registry, which monitors the clinical course, treatment and outcomes of patients with SCN. We also participate in the Diamond Blackfan Anemia Registry, the Dyskeratosis Congenita Registry, and the Shwachman-Diamond Syndrome Registry, for which Kasiani Myers, MD, serves as the co-director.

Our Team

Meet our doctors.

Members of the bone marrow failure syndrome team meet regularly to discuss patients in need of complex treatment strategies. Our doctors are dedicated to advancing research and providing compassionate care for children with these diseases.

Experts

  • Stella Davies, MBBS, PhD; Parinda Mehta, MD; Adam Nelson, MBBS; Kasiani Myers, MD

Advanced Practice Nurse Practitioners

  • Robin Mueller, Amanda Deckelman, Amanda Watt, Molly Leone

Nurse Case Managers

  • Erica Goodridge, Kaitlin Brooks, Kathy Ball, Michelle Harris, Leann Mount
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