Rare disease day

Today is Rare disease day (FEB 28th). I wanted to share the information below on Ethen and Addyson and their different diagnosis’s. Ethen has Autism, ADHD, DMDD and Ehlers Danlos Syndrome. Addyson has a handful of diagnoses.A few of them are classified has rare diseases, they range from Periodic Fever syndrome, to seizures, to alacrima.

Below is a small summary on each of their rare diseases.

Familiar Mediterranean Fever: (FMF) is an inherited autoinflammatory disease characterized by recurrent episodes (attacks) of fever and acute inflammation of the membranes lining the abdomen, joints, and lungs. Inflammation of the membrane lining the heart or covering the brain and spinal cord may occur. Some individuals may develop a serious condition known as amyloidosis, in which certain proteins called amyloid accumulates in various tissues of the body. In FMF, amyloid accumulates in the kidneys (renal amyloidosis) where it can impair kidney function potentially result in life-threatening complications such as kidney failure. FMF is caused by mutations of the MEditerranean FeVer (MEFV) gene and is basically inherited as an autosomal recessive trait. We know where Addyson received her gene variant from, but at the end of the day that doesn’t matter, it just matters that we have found NIH and they have been amazing at helping to control her fevers.

Febrile Seizures: Simple febrile seizuresare over in a few minutes, but in rare cases can last up to 15 minutes. During this type of seizure, a child may:

convulse, shake, and twitch all over
roll the eyes
moan
become unconscious (pass out)
vomit or urinate (pee) during the convulsions

Cyclic Neutropenia: Cyclic neutropenia is a rare blood disorder characterized by recurrent episodes of abnormally low levels of certain white blood cells (neutrophils) in the body. Neutrophils are instrumental in fighting off infection by surrounding and destroying bacteria that enter the body. Symptoms associated with cyclic neutropenia may include fever, a general feeling of ill health (malaise), and/or sores (ulcers) of the mucous membranes of the mouth.

Pseudo Obstruction: Intestinal pseudo-obstruction is a rare condition with symptoms like those caused by a bowel obstruction, or blockage. But when the intestines are examined, no blockage is found. Instead, the symptoms are due to nerve (visceral neuropathy) or muscle (visceral myopathy) problems that affect the movement of food, fluid, and air through the intestines. The intestines, or bowel, include the small intestine and the large intestine, also called the colon.

Anemia of chronic disease: also called the anemia of inflammation, is a condition that can be associated with many different underlying disorders including chronic illnesses such as cancer, certain infections, and autoimmune and inflammatory diseases such as rheumatoid arthritis or lupus. Anemia is characterized by low levels of circulating red blood cells or hemoglobin, the part of red blood cells that carries oxygen. Anemia of chronic disease is usually a mild or moderate condition. In mild cases, anemia may not be associated with any symptoms or may cause fatigue, paleness of the skin (pallor) and lightheadedness.

Ventricular septal defects: are heart defects that are present at birth (congenital). The normal heart has four chambers. The two upper chambers, known as atria, are separated from each other by a fibrous partition known as the atrial septum. The two lower chambers are known as ventricles and are separated from each other by the ventricular septum. Ventricular septal defects can occur in any portion of the ventricular septum. The size and location of the defect determine the severity of the symptoms. Small ventricular septal defects can close on their own; (spontaneously) or become less significant as the child matures and grows. Moderately-sized defects can cause congestive heart failure, which is characterized by an abnormally rapid rate of breathing (tachypnea), wheezing, unusually fast heartbeat (tachycardia), enlarged liver (hepatomegaly), and/or failure to thrive.

Ehlers–Danlos syndrome: is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.

Addyson also has these, although they are not classified as RARE Diseases.

Alacrima: refers to a wide spectrum of lacrimal secretory disorders that are mostly congenital in origin. Symptoms of these disorders can range from a complete absence of tears to hyposecretion of tears; symptoms of rarer disorders include a selective absence of tearing in response to emotional stimulation but a normal secretory response to mechanical stimulation.

Preauricular sinus (also known as a congenital auricular fistula, a congenital preauricular fistula, a Geswein hole, an ear pit, or a preauricular cyst) is a common congenital malformationcharacterized by a nodule, dent or dimple located anywhere adjacent to the external ear.Frequency of preauricular sinus differs depending the population: 0.1–0.9% in the US. Preauricular sinuses are inherited features, and most often appear unilaterally.

Coxa valga: is a deformity of the hip where the angle formed between the head and neck of the femur and its shaft is increased, usually above 135 degrees. It is caused by a slipped epiphysis of the femoral head. (She also has bursitis in her one hip).

Colonic Dysmotility: Intestinal dysmotilityis the term used to describe a variety of symptoms that occur when the gut does not work properly at moving its contents (food, drink, tablets etc.) along.

Pectus excavatum: is a condition in which the breastbone sinks into the chest. It may be associated with genetic or connective tissue diseases. In severe cases, pectus excavatum can look as if the center of the chest has been scooped out, leaving a deep dent.

Ethen also has the below, which are not rare.

DMDD: Disruptive mood dysregulation disorder (DMDD) is a mental disorder in children and adolescents. Disruptive mood dysregulation disorder (DMDD) is a condition in which a child is chronically irritable and experiences frequent, severe temper outbursts that seem grossly out of proportion to the situation at hand.

ADHD: A chronic condition including attention difficulty, hyperactivity, and impulsiveness.

Autism: Autism spectrum disorder (ASD) is a developmental disorder that affects communication and behavior. Although autism can be diagnosed at any age, it is said to be a “developmental disorder” because symptoms generally appear in the first two years of life.

According to the Diagnostic and Statistical Manual of Mental Disorders (DSM-5), a guide created by the American Psychiatric Association used to diagnose mental disorders, people with ASD have:

Difficulty with communication and interaction with other people
Restricted interests and repetitive behaviors
Symptoms that hurt the person’s ability to function properly in school, work, and other areas of life

Autism is known as a “spectrum” disorder because there is wide variation in the type and severity of symptoms people experience. ASD occurs in all ethnic, racial, and economic groups. Although ASD can be a lifelong disorder, treatments and services can improve a person’s symptoms and ability to function. The American Academy of Pediatricsrecommends that all children be screened for autism.