This site is to keep family and friends updated on the medical adventures of Ethen and Addyson.
Autism, Adhd, Ehlers Danlos (type 3) & DMDD
He was diagnosed with ASD at 27 months old from KKI. Since then, he has participated in OT, PT, Speech and language therapy, Social skills groups, ABA therapy and more. Around age 5 he was diagnosed with joint hyper-mobility and low muscle tone, we have continued PT to try to improve strength. He plays on a special needs hockey team called the Baltimore saints and participates in Special Olympics activities.
Familiar Mediterranean Fever: (FMF) is an inherited autoinflammatory disease characterized by recurrent episodes (attacks) of fever and acute inflammation of the membraneslining 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. Some individuals develop amyloidosis. FMF is caused by mutations of the MEditerranean FeVer (MEFV) gene and is basically inherited as an autosomal recessive trait. We know that Addyson received her gene variant from me.
Epilepsy (adnfle) focal-partial Seizures: ( ) is an uncommon form of epilepsy that runs in families. This disorder causes seizures that usually occur at night (nocturnally) while an affected person is sleeping. Some people with also have seizures during the day. The seizures characteristic of tend to occur in clusters, with each one lasting from a few seconds to a few minutes. Some people have mild seizures that simply cause them to wake up from sleep. Others have more severe episodes that can include sudden, repetitive movements such as flinging or throwing motions of the arms and bicycling movements of the legs. The person may get out of bed and wander around, which can be mistaken for sleepwalking. The person may also cry out or make moaning, gasping, or grunting sounds. In some types of epilepsy, including , a pattern of neurological symptoms called an aura often precedes a seizure. The most common symptoms associated with an aura in people with are tingling, shivering, a sense of fear, dizziness (vertigo), and a feeling of falling or being pushed. Some affected people have also reported a feeling of breathlessness, overly fast breathing (hyperventilation), or choking. It is unclear what brings on seizures in people with . The seizures associated with can begin anytime from infancy to mid-adulthood, but most begin in childhood. In most affected people, the seizures can be effectively controlled with medication.
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. The underlying mechanisms that cause anemia of chronic disease are complex and not fully understood.
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. Valves connect the atria (left and right) to their respective ventricles. The aorta, the main vessel of arterial circulation, carries blood from the left ventricle and away from the heart. 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. Large ventricular septal defects can cause life-threatening complications during infancy. Persistent elevation of the pressure within the artery that carries blood away from the heart and to the lungs (pulmonary artery) can cause permanent damage to the lungs. The exact cause of ventricular septal defects is not fully understood.She 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 malformation characterized 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.
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.
Colonic Dysmotility: Intestinal dysmotility is 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.
Mitochondrial Disorder: A disorder that occurs when structures that produce energy for a cell malfunction. A common factor among mitochondrial diseases is that the mitochondria are unable to completely burn food and oxygen to generate energy, which is essential for normal cell function. It’s often inherited. Symptoms might include poor growth, developmental delays, and muscle weakness.
Autonomic Dysfunction & POTS (Postural orthostatic tachycardia syndrome): is a condition that affects circulation (blood flow). POTS is a form of orthostatic intolerance, the development of symptoms that come on when standing up from a reclining position, and that may be relieved by sitting or lying back down. The primary symptom of an orthostatic intolerance is lightheadedness, fainting, and an uncomfortable, rapid increase in heartbeat.
Surgeries to date: T&A 2013, Sigmoid resection 10/2017, Cecostomy 10/2017, Ileostomy 2/2019, Muscle biopsy, g tube & stoma revision 6/2020, + many other surgical procedures.