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Bone Marrow Failure Program
Who treats this at Children’s?
In some cases, children with bone marrow failure syndromes have health problems that affect other organs in addition to the blood. A team approach to comprehensive patient and family-centered care ensures that all of the child’s needs are addressed. Specialists from many areas of medicine are available including:
Pediatric hematologists are physicians with special focus on pediatric blood disorders. At the Vascular Anomalies Center, our hematologists tailor a treatment plan that is special for each one of our patients.
Physician assistants (PA) are healthcare professionals trained and licensed to practice medicine with limited supervision of a physician
Clinical nurse practitioners (CNP) are nurses who have completed a master's program and specialty training in caring for children with cancer and blood disorders.
- Jane Hennessy, RN, CNP – Pediatrics, MPH
- Kimberly Jacobson, RN, CNP - Pediatrics
- Kristin Moquist, RN, CNP - Pediatrics
Cardiologists are doctors with special training and skill in finding, treating and preventing diseases of the heart and blood vessels.
Endocrinologists are doctors with special training and skill in finding and treating diseases of the endocrine system. They work with glands, hormones, immune system cells, and the levels of hormones and enzymes in the body.
Gastroenterologists are doctors with special training and skill in finding and treating conditions that affect the digestive system.
Nephrologists are doctors with special training and skill in managing and diagnosing diseases and disorders of the kidneys.
Pulmonologists are doctors with special training and skill in the diagnosis and treatment of diseases and conditions of the lungs and the respiratory system.
Pediatric Surgeons our surgery teams deliver next-generation care in an award-winning environment that is exclusively dedicated to pediatrics. Health professionals of many disciplines work together to provide your child with the best possible surgery experience, including many subspecialty surgeons.
Depending on your child’s needs and the staff at your hospital and clinic, any of the following people may be on your health care team:
Case managers are registered nurses who are trained to provide and coordinate the nursing care and teaching to children and their families in the hospital or clinic.
Child life specialists have special training in child development and how children react to illness and being in the hospital. A child life specialist helps children to cope with cancer and its treatment.
Chaplains are trained to offer spiritual care, support and prayer according to each family’s individual needs.
Genetic counselors are trained to provide information and support to families who may be at risk for a variety of genetic disorders or inherited conditions.
Nutritionists are trained to evaluate your child's nutritional needs and weight. The nutritionist also helps to provide teaching and support about eating and drinking when your child goes home.
Pathologists are physicians who test tissues for disease using a microscope and other biology tests.
Pediatric hematology/oncology nurses focus their knowledge and attention on patients with childhood cancer and blood disorders.
Pediatric oncologists are physicians with special focus on childhood cancer. Our oncologists tailor a treatment plan that is special for each one of our patients.
Pharmacists are trained to prepare the medicines and nutritional support that your child will need.
Physical therapists work with your child to maintain or restore a level of fitness through strength and endurance exercises.
Psychiatrist or psychologists are health professionals available to help you and your child cope with feelings of anger, fear, depression, and hope that you or your child may experience. This person may also perform testing.
Rehabilitation therapists are health professionals who help your child maintain and improve muscle strength and flexibility.
Social workers are trained to help you and your child cope with illness and hospitalization through counseling, support groups, financial assistance, and resource referral.
Volunteers are trained as an unpaid helper with non-medical activities for your child.
This team approach gives families and referring physicians’ access to a wealth of expertise.
Severe Congenital Neutropenia (SCN)
What is Severe Congenital Neutropenia (SCN)?
Severe congenital neutropenia is a bone marrow failure syndrome. Children with SCN have very low white blood counts (neutrophils) and are at risk for serious, life-threatening infections starting in infancy.
What are the signs and symptoms of SCN?
Children with SCN have normal physical examinations however they often experience infections in the first year of life. Children with SCN may have frequent fevers, thrush (yeast infections), skin boils or abscesses, and other life threatening infections.
How is SCN diagnosed?
Blood tests and a bone marrow examination will demonstrate low neutrophils. Genetic testing to identify mutation associated with SCN can be confirmatory in most cases. The most common genes affected in SCN include ELANE and HAX1.
How is SCN treated?
Treatment for severe congenital neutropenia in children usually begins with antibiotics to treat or prevent infection and recombinant human granulocyte colony-stimulating factor (GCSF). However, bone marrow transplant is the only curative treatment for this disease.
About treatment for Severe Congenital Neutropenia at Children’s
Children’s Cancer and Blood Disorders program achieves outcomes that rank among the top national programs and cares for more than two-thirds of Minnesota children and adolescents with blood disorders. In the program, families coping with anemia have access to the newest and most promising treatments and receive care spearheaded and coordinated by a board-certified hematologist/oncologist.
Contact us
If you are a family member looking for a Children’s hematologist or oncologist or wanting to schedule an appointment, call the outpatient clinic at Children’s – Minneapolis at (612) 813-5940
If you are a health professional looking for consultation or referral information, please call Children's Physician Access at 1-866-755-2121 (toll-free).
Sideroblastic Anemia
What is sideroblastic anemia?
Sideroblastic anemia is a group of disorders where the bone marrow (or ‘blood factory’) does not make enough red blood cells to provide oxygen to tissues. In these disorders, the bone marrow cells that make red blood cells are unable to process iron correctly and the iron builds up in the cell. There are many causes for these disorders. Some cases of sideroblastic anemia are inherited and may be found in families, whereas others are acquired over time.
What are the symptoms of sideroblastic anemia?
Symptoms include fatigue, lack of energy, or light-headedness when standing up or with exertion.
How is sideroblastic anemia diagnosed?
Anemia is diagnosed using a simple blood test. A bone marrow biopsy will detect the sideroblast (blood producing cell with too much iron). Further tests are necessary to determine the cause of the sideroblastic anemia. In cases where inherited sideroblastic anemia is suspected, genetic testing to looks for known mutations should be performed
How is sideroblastic anemia treated?
Treatment for sideroblastic anemia depends on the type or cause. Avoidance of known triggers such as lead poisoning, certain drugs or alcohol may be recommended. Some forms of sideroblastic anemia respond to vitamin B6. Blood transfusions are often required to treat the symptoms of anemia. In some cases, a bone marrow or stem cell transplant may be considered.
About treatment for sideroblastic anemia at Children’s
Children’s Cancer and Blood Disorders program achieves outcomes that rank among the top national programs and cares for more than two-thirds of Minnesota children and adolescents with blood disorders. In the program, families coping with anemia have access to the newest and most promising treatments and receive care spearheaded and coordinated by a board-certified hematologist/oncologist.
Contact us
If you are a family member looking for a Children’s hematologist or oncologist or wanting to schedule an appointment, call the outpatient clinic at Children’s – Minneapolis at (612) 813-5940
If you are a health professional looking for consultation or referral information, please call Children's Physician Access at 1-866-755-2121 (toll-free).
Shwachman-Diamond Syndrome (SDS)
What is Shwachman-Diamond Syndrome (SDS)?
Shwachman-Diamond Syndrome is a bone marrow failure disorder that is associated with low white blood cells (neutropenia), poor food absorption (malabsorption) and problems with bones. Most children with SDS are diagnosed in infancy.
What are the signs and symptoms of SDS?
- Short stature
- Poor weight gain ("Failure to thrive")
- Diarrhea
- Problems with bones ("metaphyseal dysostosis", a specific finding seen on x-rays).
- Frequent infections
How is SDS diagnosed?
- Blood tests are performed to document low white cells. Other cells of the blood may also be affected including red cells and/or platelets.
- Poor food absorption is caused by 'pancreatic insufficiency' (reduced digestive enzyme production by the pancreas). This can be measured by various laboratory tests looking at the blood and stool. X-ray tests looking at the pancreas itself may be performed.
- X-ray tests may demonstrate problems with the bones
- Genetic testing of a gene called SBDS (Shwachman Bodian Diamond Syndrome) may reveal specific mutations
How is SDS treated?
Treatment for children with SDS includes:
- pancreatic enzyme supplementation, vitamin supplementation and nutrition monitoring
- prevention and/or treatment of infections
- correction of low blood counts when possible
- prevention of orthopedic deformities
- close monitoring for the development of progressive bone marrow failure or cancers
- bone marrow transplant (may be required in severe cases)
About treatment for Shwachman-Diamond Syndrome at Children’s
Children’s Cancer and Blood Disorders program achieves outcomes that rank among the top national programs and cares for more than two-thirds of Minnesota children and adolescents with blood disorders. In the program, families coping with anemia have access to the newest and most promising treatments and receive care spearheaded and coordinated by a board-certified hematologist/oncologist.
Contact us
If you are a family member looking for a Children’s hematologist or oncologist or wanting to schedule an appointment, call the outpatient clinic at Children’s – Minneapolis at (612) 813-5940
If you are a health professional looking for consultation or referral information, please call Children's Physician Access at 1-866-755-2121 (toll-free).
Thrombocytopenia Absent Radii (TAR)
What is Thrombocytopenia Absent Radii (TAR)?
Thrombocytopenia-absent radius (TAR) syndrome is a rare condition with two main findings. Children with TAR have decreased production of platelets (the cells which help the blood to clot) and are missing one of the two bones from each lower arm, called the radius.
What are the signs and symptoms of TAR?
Children with TAR are almost always diagnosed at birth. Signs and symptoms include the following:
- Bruising and bleeding as a result of the decreased platelets
- Missing radius bone from both lower arms (although the thumbs are present)
- Short stature and additional skeletal abnormalities, including underdevelopment of other bones in the arms and legs
- Malformations of the heart and kidneys
- Associated features may also include a small lower jaw (micrognathia), a prominent forehead, and low-set ears
- About half of affected individuals experience difficulty digesting cow's milk
How is TAR diagnosed?
The diagnosis is made by physical examination, in which the radius bones in the arms are found to be missing. Blood tests are done to assess the platelet count and for genetic analysis of chromosome 1. Affected individuals have a deletion (absence) of chromosome 1 at position 1q21.1.
How is TAR treated?
The critical period is the first year of life. Platelet transfusions are required to prevent life threatening bleeding. For most children with TAR, platelet counts improve as they grow out of childhood. Surgery may also be required for skeletal abnormalities.
About treatment for Thrombocytopenia Absent Radii at Children’s
Children’s Cancer and Blood Disorders program achieves outcomes that rank among the top national programs and cares for more than two-thirds of Minnesota children and adolescents with blood disorders. In the program, families coping with anemia have access to the newest and most promising treatments and receive care spearheaded and coordinated by a board-certified hematologist/oncologist.
Contact us
If you are a family member looking for a Children’s hematologist or oncologist or wanting to schedule an appointment, call the outpatient clinic at Children’s – Minneapolis at (612) 813-5940
If you are a health professional looking for consultation or referral information, please call Children's Physician Access at 1-866-755-2121 (toll-free).
