about equipoise's rare disease service:
Dr. Stauffer and Dr. Cohn combine their expertise to offer evaluation, diagnosis, guidance, and management of rare, complex diseases.
These disorders necessitate a unique skill set, including robust reading of the medical literature along with a skilled understanding of how to make medical decisions in serious, complicated situations where population data tends to be lacking. Due to the nature of Dr. Stauffer’s and Dr. Cohn’s specialty fields involving mostly rare, complex diseases, we have developed a skill set for working with children who have special challenges in their medical journey, and we are honored to have cared for patients experiencing some of the world’s most unusual and most difficult diseases crossing a wide range of specialties and topics. Some patients might feel that this makes sense to operate as a primary care home, but for many, they will prefer to maintain their relationship with their primary care provider and use our skills as a consult service.
If it means a kid can feel better, we are happy to help either way.
while not an exhaustive list, some rare, complex diseases with which we have been involved include:
Genetic disorders
- Patau syndrome (Trisomy 13)
- Edward syndrome (Trisomy 18)
- Down syndrome (Trisomy 21)
- DiGeorge syndrome (22q11 deletion)
- Fragile X syndrome
- Turner syndrome (45,X0)
- Cystic fibrosis
- Prader-Willi syndrome
- Marfan syndrome
- Ehlers-Danlos syndrome
- Beckwith-Weidemann syndrome (hemihyperplasia)
- Sotos syndrome
Neurologic and musculoskeletal disease
- Cerebral palsy
- Muscular dystrophy
- Skeletal dysplasia due to various causes
- Long-term consequences of traumatic brain injury
- Developmental delays due to various causes
- Autism
Immunodeficiency
- Cyclic neutropenia
- Severe combined immunodeficiency (SCID)
- Combined variable immunodeficiency (CVID)
- Immunosuppression due to medications such as chemotherapy and anti-seizure drugs
- Congenital neutropenia (Kostmann syndrome)
- Leukocyte adhesion deficiency
- Hypogammaglobulinemia
- Viral infections
- HIV/AIDS
Childhood cancer
- Leukemia
- Lymphoma (Hodgkin and non-Hodgkin)
- Brain tumors
- Medulloblastoma
- Glioblastoma
- Diffuse pontine glioma (DPG)
- Atypical teratoid/rhabdoid tumor (ATRT)
- Osteosarcoma
- Ewing sarcoma
- Rhabdomyosarcoma
- Neuroblastoma
- Pleural pulmonary blastoma
- Hepatic blastoma
- Wilms tumor
- Ovarian and testicular germ cell tumor
- Teratoma
- Retinoblastoma
Benign tumors
- Tuberous sclerosis
- Hemangioma
- Hamartoma
- Autoimmune lymphoproliferative syndrome (ALPS)
- Lymphangiomatosis
Anatomic problems
- Goldenhar syndrome
- Congenital heart disease
- Horsehoe kidney
- Malformation of limbs
- Holoprosencephaly
- Short gut syndrome
- Spina bifida
- Cleft lip/palate
- Pierre Robin syndrome
- Vascular malformation
- Chiari malformation
- VATER and VACTERL syndromes
Autoimmune disorders
- Systemic lupus erythematosus (SLE)
- Juvenile idiopathic arthritis (JIA; formerly called juvenile rheumatoid arthritis, JRA)
- Psoriasis
- Immune thrombocytopenic purpura (ITP)
- Evan syndrome
- Autoimmune hemolytic anemia (AIHA)
- Antiphospholipid syndrome
- Autoimmune neutropenia
Cancer predisposition syndromes
- BRCA mutation
- Bloom syndrome
- Li Fraumeni syndrome (p53, TP53)
- Neurofibromatosis, types I and II
- Down syndrome (Trisomy 21)
- Job syndrome (Hyper IgE syndrome)
- Noonan syndrome
Bone marrow failure disorders
- Fanconi anemia
- Diamond-Blackfan anemia
- Schwachman-Diamond syndrome
Blood disorders
- Sickle cell disease
- Thalassemia
- Combined factor deficiency
- Hemophilia
- Platelet disorders
- Hemochromatosis
- Atypical hemolytic uremic syndrome (aHUS)
Histiocytic disorders
- Rosai-Dorfman disease
- Erdheim-Chester disease
- Langerhans cell histiocytosis (LCH)
- Hemophagocytic lymphohistiocytosis (HLH)
Miscellaneous
- Severe prematurity
- Ventilator dependence
- G-tube dependence
- Need for assistive devices, such as wheelchairs, etc.
- Bronchopulmonary dysplasia
- Having multiple complex diseases at once
