EPIDERMOLYSIS BULLOSA: Epidermolysis is a group of skin disorders whose hallmark is blistering in response to minor injury, heat or friction from rubbing or friction.  ED affects about 12,500 people in the US alone.  It is most often diagnosed at or soon after birth and the symptoms can range from mild to severe depending on which form is diagnosed.  There is no cure for this disease and treatment is based on the severity, but is usually aimed at preventing pain, infection or other complications.

INTESTINAL LYMPHANGIECTASIA: The etiology and prevalence of Primary Intestinal Lymphangiectasia is not known. This disorder is the result of improperly formed intestinal lymph vessels.  As a result the lymphatic fluid is not properly carried away and it leaks back into the intestine, preventing the absorption of fats, protein and nutrients into the bloodstream.  Along with loss of proteins, there is also loss of white blood cells and antibodies that are important for fighting infection, vitamins, and calcium. The cornerstone of medical management in PIL is dietary. A low fat, high protein diet with nutritional supplementation is required. 

JUVENILE IDIOPATHIC ARTHRITIS: Also known as Juvenile Rheumatoid Arthritis. JIA is a chronic disease that can affect joints in any part of the body. The immune system mistakenly targets the synovium which is the tissue that lines the inside of the joints.  The synovium responds by becoming inflamed and making excess fluid which leads to swelling and pain.  Eventually the surrounding tissue can be affected and this can lead to damage of the bone and cartilage.  The heart, lungs and eyes can also be affected.  JIA is diagnosed before the age of 16 and is classified by the symptoms and number of joints. There is no exact cause or known way to prevent JIA.

LEUKEMIA (ACUTE LYMPHOCYTIC LEUKEMIA): ALL is a cancer of the white blood cells, the cells that normally fight infections.  ALL is the most commonly cancer diagnosed in childhood and accounts for about 1/3 of all childhood cancers. There are ~3000 new cases diagnosed in the US each year.  While ALL is associated with a few inherited genetic syndromes such as Down Syndrome, the cause remains largely unknown. The cure rate for ALL is approaching 80%.  ALL is usually diagnosed between the ages of 2-5 years and presents with fatigue, anemia, easy bleeding, leg pain or fever.

OSTEOGENSIS IMPERFECTA:  More commonly known as Brittle Bone Disease. OI is a genetic disorder characterized by bones that break easily without or due to very minor trauma.  Collagen is the major protein of the body’s connective tissue which is the framework of the body.  In OI the body doesn’t produce enough collagen or the collagen that it produces is of very poor quality.  Because it is a genetic disease, there is no cure.  Treatment uses diet and therapy to optimize bone mass and muscle strength.  Orthopedic care is a pillar of treatment for these patients providing fracture care and treatment for scoliosis which is common for OI.  Rodding is a surgical procedure where metal rods are inserted into the long bones of the body to strengthen them.

POLYCYSTIC KIDNEY DISEASE:  Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in the kidneys.  The kidneys filter waste and extra fluid from the blood to form urine.  As the cysts form and grow in size and number, they replace the normal kidney structure resulting in decreased kidney function and ultimately kidney failure, requiring transplant. 

RASMUSSEN’S SYNDROME:  Rasmussen’s Syndrome is an autoimmune disorder that causes inflammation of one side of the brain.  Antibodies in the blood bind to the nerve cells and cause inflammation that can lead to seizures, paralysis on one side of the body, blindness in one eye, loss of speech and mental deterioration.  What triggers this abnormal immune response is not known.  The inflammation will eventually burn itself out but the neurological damage is irreversible.  Early diagnosis and treatment improve outcome.  Rasmussens’s Syndrome is usually diagnosed in children less than 15 years old, most commonly around 5 years of age.

SPINA BIFIDA WITH HYDROCEPHALUS:  Spina Bifida is the most common neural tube defect in the United States, affecting about 1,500 babies each year.  During the first month of fetal development, the back bones and the spinal cord and its coverings fail to develop normally.  The bones of the back bone do not form completely, allowing the spinal cord and it’s coverings to stick outside the child’s back.  This most commonly occurs along the lower part of the back.  This can usually be surgically corrected.  Unfortunately, the neurological damage is irreversible, leaving the child with permanent weakness or paralysis of the legs.  Hydrocephalus occurs when fluid in the brain cannot drain, causing increased pressure in the brain.  A shunt is surgically placed to drain the fluid and prevent damage.

SPINAL MUSCLE ATROPHY:  SMA is a genetic disorder in which loss of nerve cells in the spinal cord called motor neurons affect the part of the nervous system that controls voluntary movement.  There is a deficiency of a motor neuron protein that is necessary for the survival of motor neuron cells.  The muscles are normal but they become weak as a result of the loss of the signal to contract that is transmitted from the spinal cord.  These children will often develop scoliosis and respiratory problems.  It is noted in the literature that these children are unusually intelligent and sociable. There is no cure or specific drug therapy available for children with SMA.

THORACIC INSUFFICIENCY SYNDROME: The thorax includes the spine, ribs and sternum.  TIS is the inability of the thorax to support normal breathing or lung growth due to a rare congenital condition of scoliosis and missing or fused ribs or other chest wall deformities.  Treatment is surgical.  A vertical expansion prosthetic titanium rib (VEPTR) is placed in the chest wall correct the deformities and allow for normal growth and breathing.  Without this surgery, these children will not have a normal life expectancy.

TRANSVERSE MYELITIS: Transverse Myelitis is a condition that results from inflammation of the myelin across one level or segment of the spinal cord.  Myelin is the insulating material that covers the nerve cell fibers of the spinal cord.  The inflammation causes scarring and interrupts the communication between the spinal cord and the rest of the body.  The level of the spinal cord at which the damage occurs, determines which parts of the body are affected.  The exact cause of TM is not known.  1400 new cases of TM are diagnosed each year in the US.  No effective cure currently exists, but most children with TM experience at least partial recovery. 

VELOCARDIOFACIAL SYNDROME:  VCFS is a genetic syndrome characterized by some form of congenital heart disease, cleft palate, immune deficiencies, abnormal facies, learning disabilities and any combination of over 180 other clinical findings. These abnormalities can effect almost every system in the body including the eyes, ears, nose, brain, kidneys and extremities as well as the endocrine and immune systems.  There is no cure and treatment involves managing the child’s symptoms.  It is estimated that VCFS affects 1 in 4,000 people.  It is the second most common genetic defect in the population, second only to Down Syndrome.