Knowledge is power. A new diagnosis may require some adjustments to help your child thrive. We hope you will find some helpful information about your child’s condition to enable you to best manage symptoms and navigate treatment options.
Behcet’s Disease is common in the Middle East, Asia, and Japan. It is rare in the United States. In Middle Eastern and Asian countries, the disease affects more men than women. In the United States, it affects more women than men. Behcet’s Disease tends to develop in people in their 20’s or 30’s, but people of all ages can develop this disease. Behcet’s Disease is an autoimmune disease that results from damage to blood vessels throughout the body, particularly veins. In an autoimmune disease, the immune system attacks and harms the bodies’ own tissues.
“The exact cause of Behcet’s Disease is unknown. Most symptoms of the disease are caused by vasculitis (an inflammation of the blood vessels). Inflammation is a characteristic reaction of the body to injury or disease and is marked by four signs: swelling, redness, heat, and pain. Doctors think that an autoimmune reaction may cause the blood vessels to become inflamed, but they do not know what triggers this reaction. Under normal conditions, the immune system protects the body from diseases and infections by killing harmful “foreign” substances, such as germs, that enter the body. In an autoimmune reaction, the immune system mistakenly attacks and harms the body’s own tissues. Behcet’s Disease is not contagious; it is not spread from one person to another. Behcet’s Disease affects each person differently. The four most common symptoms are mouth sores, genital sores, inflammation inside of the eye, and skin problems. Inflammation inside of the eye (uveitis, retinitis, and iritis) occurs in more that half of those with Behcet’s Disease and may cause blurred vision, pain and redness. Other symptoms may include arthritis, blood clots, and inflammation in the central nervous system and digestive organs.”
– American Behcet’s Disease Associaton
Pediatric Cancer Pain
Chiari and Syringomylia
The Chiari malformation (CM) was first identified by Dr. Hans Chiari in 1891. It is an uncommon, complex, neurologic deformity which is present at birth.The brainstem normally sits in a funnel-like cavity just above the spinal cord. The problem occurs when the posterior fossa is not formed properly. Instead of the brainstem sitting in its proper space, the cerebellar tonsils are displaced downward into the funnel, thus causing pressure on this part of the brain and spinal cord.
- KIDS HEALTH – CHIARI MALFORMATION
- NCBI – RESOURCES FOR ARNOLD CHIARI MALFORMATION
- THE CHIARI CARE CENTER
- CSF: CHIARI AND SYRINGOMYELIA FOUNDATION
Complex Regional Pain Syndrome
Complex regional pain syndrome (CRPS) is a chronic pain condition most often affecting one of the limbs (arms, legs, hands, or feet), usually after an injury or trauma to that limb. CRPS is believed to be caused by damage to, or malfunction of, the peripheral and central nervous systems.
- AMERICAN RSDHOPE
- NATIONAL INSTITUTES OF HEALTH: CRPS FACT SHEET
- RSDSA ORGANIZATION
- KNOCK OUT TO ROCK OUT RSD
Dysautonomia is an umbrella term used to describe various conditions that cause a malfunction of the Autonomic Nervous System. The Autonomic Nervous System (ANS) controls most of the essential functions of the body that we do not consciously think about, such as heart rate, blood pressure, digestion, dilation and constriction of the pupils of the eye and temperature control.
Ehlers Danlos Syndrome
EDS is an inherited condition that affects the connective tissues in the body. Connective tissue is responsible for supporting and structuring the skin, blood vessels, bones and organs.
Fibromyalgia pain affects muscles and joints as well as the ligaments, tendons and skin. It is widespread pain, experienced in all four limbs as well as the neck, chest wall and back. It is a syndrome, meaning it is a combination of symptoms including pain and fatigue.
Gastroparesis literally means paralyzed stomach. It is one of the most severe and complicated gastric motility disorders. Approximately 5 million Americans, including children, suffer from gastroparesis. In some instances, it appears for a brief time and goes away on it’s own or improves with treatment. Many cases are refractory and do not respond well to treatment.
- GI FOR KIDS
- INTERNATIONAL FOUNDATION FOR FUNCTIONAL GASTROINTESTINAL DISORDERS
- NATIONWIDE CHILDREN’S
- THE GASTROPARESIS & DYSMOTILITIES ASSOCIATION
Headache is a common reason for pediatric patients to seek medical care. Headaches can result from any of a number of causes, including genetic predisposition, trauma, an intracranial mass, a metabolic or vascular disease, or sinusitis. Recognition that pediatric headaches can result from primary and secondary causes is crucial to their treatment.
Irritable Bowel Syndrome
Irritable bowel syndrome (IBS) is a fairly common problem with the way the large intestine works.
- HELP FOR IBS
- KIDS HEALTH – IBS
- MEDICINE NET: IBS IN CHILDREN
- NATIONAL DIGESTIVE DISEASES INFORMATION CLEARINGHOUSE (NDDIC)
Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.
Many of the characteristic facial features of Jackson-Weiss syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to a misshapen skull, widely spaced eyes, and a bulging forehead.
Foot abnormalities are the most consistent features of Jackson-Weiss syndrome. The first (big) toes are short and wide, and they bend away from the other toes. Additionally, the bones of some toes may be fused together (syndactyly) or abnormally shaped. The hands are almost always normal.
People with Jackson-Weiss syndrome usually have normal intelligence and a normal life span.
Juvenile Arthritis and Juvenile Rheumatoid Arthritis
Loeys Dietz Syndrome
Loeys-Dietz syndrome (LDS) is a genetic disorder that affects the connective tissue in the body. Individuals with LDS exhibit a variety of medical features in the cardiovascular, musculoskeletal, skin and gastrointestinal systems. LDS manifests itself in a number of ways; therefore, no two persons with LDS will have identical medical characteristics.
The signs and symptoms of Marfan syndrome vary greatly, even among members of the same family. Some people experience only mild effects, but others develop life-threatening complications. In most cases, the disease tends to worsen with age.
Mast Cell Activation Disorder
Systemic mastocytosis (mas-to-sy-TOE-sis) is a disorder caused by a genetic mutation that results in an excessive number of mast cells in your body. Mast cells normally help protect you from disease and aid in wound healing by releasing substances such as histamine and leukotrienes. But if you have systemic mastocytosis, excess mast cells can build up in your skin, around blood vessels, in your respiratory, gastrointestinal and urinary tracts, or in reproductive organs. When triggered, these mast cells release substances that can overwhelm your body and result in symptoms such as facial flushing, itching, a rapid heartbeat, abdominal cramps, lightheadedness or even loss of consciousness. Common triggers include alcohol, temperature changes, spicy foods and certain medications.
- ME AND MY MAST CELL
- MAST CELL ACTIVATION DISORDER (MCAD), CHRONIC ILLNESS, AND ITS ROLE IN METHYLATION
- THE MASTOCYTOSIS SOCIETY
Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth.
Pfeiffer syndrome is a rare genetic disorder characterized by premature fusion of certain skull bones (craniosynostosis), and abnormally broad and medially deviated thumbs and great toes. Most affected individuals also have an abnormal midface, with protruding eyes and conductive hearing loss. Three forms of Pfeiffer syndrome are recognized, of which types II and III are the more serious.
Postural Orthostatic Tachycardia
Postural Orthostatic Tachycardia Syndrome (POTS) is a form of dysautonomia. POTS is a subset of orthostatic intolerance that is associated with the presence of excessive tachycardia on standing. The current diagnostic criteria for POTS is a heart rate increase of 30 beats per minute (bpm) or more, or over 120 bpm, within the first 10 minutes of standing.
Resources for Multiple Conditions
- THE GLOBAL GENES PROJECT
- THE NATIONAL ORGANIZATION for RARE DISORDERS (NORD)
- US PAIN FOUNDATION
- RARE DISEASE LEGISLATIVE ADVOCATES
- RARE DISEASE UNITED FOUNDATION
- RARE NEW ENGLAND