Rare disease day

February 28th is Rare disease day. Today we spread awareness on rare diseases.

We spread awareness so that others can get a glimpse into our journey. So they can see more than just the fight. More than the driving back and forth to appointments. More than all the hospital stays, lab procedures, clinic visits and surgeries. We want you to also see the joy in her journey. The friendships we have made. Them we want you to understand the balance we work so hard to maintain. The fine line of juggling it all without their lives being all medical.

Addyson has a bunch of disorders but the following ones are considered rare.

FMF: Familial Mediterranean fever

FMF is a periodic fever syndrome characterised by recurrent bouts of fever with accompanying pain. It is typically inherited. FMF is most prevalent in the eastern Mediterranean region and about 2.5 per 100,000 people are affected in Western countries. From a worldwide perspective, it is a rare disease. FMF flares lasting from a few hours to 3-4 days can involve the following symptoms:

  • Fever
  • Abdominal and/or chest pain
  • Inflammation of a joint e.g., knee, ankle, wrist
  • Painful, severe skin redness in nearly 50% of patients, often on the feet and/or lower legs
  • Spleen enlargement
  • Swelling of the ends of fingers and/or toes


Autosomal dominant nocturnal frontal lobe epilepsy

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, inherited form of epilepsy. People with ADNFLE have seizures that usually occur at night during sleep. Some people with ADNFLE also have seizures during the day. These seizures can last from a few seconds to a few minutes. The onset of ADNFLE ranges from infancy to adulthood, but most cases begin in childhood.

Mitochondrial disorder

Mitochondrial genetic disorders refer to a group of conditions that affect the mitochondria (the structures in each cell of the body that are responsible for making energy). People with these conditions can present at any age with almost any affected body system; however, the brain, muscles, heart, liver, nerves, eyes, ears and kidneys are the organs and tissues most commonly affected. Symptom severity can also vary widely. Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNAor nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy. Those caused by mutations in mitochondrial DNA are transmitted by maternal inheritance, while those caused by mutations in nuclear DNA may follow an autosomal dominant, autosomal recessive, or X-linkedpattern of inheritance. People with mitochondrial genetic disorders can present at any age with almost any affected body system. While some conditions may only affect a single organ, many involve multiple organ systems including the brain, muscles, heart, liver, nerves, eyes, ears and/or kidneys. Symptom severity can also vary widely. The most common signs and symptoms include:

  • Poor growth
  • Loss of muscle coordination
  • Muscle weakness
  • Seizures
  • Autism
  • Problems with vision and/or hearing
  • Developmental delay
  • Learning disabilities
  • Heart, liver, and/or kidney disease
  • Gastrointestinal disorders
  • Diabetes
  • Increased risk of infection
  • Thyroid and/or adrenal abnormalities
  • Autonomic dysfunction
  • Dementia


Chronic Intestinal Pseudo-Obstruction

Chronic intestinal pseudo-obstruction (CIP) is a rare, potentially disabling gastrointestinal disorder characterized by abnormalities affecting the involuntary, coordinated muscular contractions (a process called peristalsis) of the gastrointestinal (GI) tract. Peristalsis propels food and other material through the digestive system under the control of nerves, pacemaker cells and hormones. CIP usually results from abnormalities affecting the muscles or nerves that are involved in peristalsis. Consequently, peristalsis becomes altered and inefficient. The symptoms of CIP resemble those caused by mechanical obstruction of the small bowel. Common symptoms include nausea, vomiting, abdominal pain, abdominal swelling (distention) and constipation. Ultimately, normal nutritional requirements cannot be met leading to unintended weight loss and malnourishment. CIP can potentially cause severe, even life-threatening complications.

The specific symptoms and severity of CIP can vary greatly from one person to another, depending, in part, on the exact location and extent of the disease within the gastrointestinal tract. Any area of the GI tract can potentially be affected, but the small bowel is most commonly affected. By definition, CIP is chronic in nature and individuals usually have continuous symptoms of bowel obstruction. However, affected individuals may also experience recurrent episodes or “acute attacks” during which time symptoms worsen and become more pronounced. In between such episodes, affected individuals may experience vague, nonspecific symptoms relating to the GI tract and bowel obstruction. In extremely rare cases, some affected individuals do not have symptoms in between such attacks.

Common symptoms include nausea and vomiting, abdominal swelling or bloating (distention), abdominal cramps, abdominal pain and constipation. Although constipation is more common, some affected individuals may experience a complete lack of bowel movements and have no gas in the GI tract (lack of flatus). Abdominal pain may be chronic in some cases while in other cases it may only occur during acute episodes. Abdominal pain has been described as either sharp or stabbing versus a dull ache or general discomfort. Some infants and children may also experience early fullness (satiety), an aversion to food and eating, and unintended weight loss or poor weight gain. Over time, bacterial infections and poor absorption of nutrients (malabsorption) may occur, ultimately resulting in malnutrition.

Affected individuals may experience bacterial infections, malabsorption and malnutrition. In severe cases, affected individuals can develop cachexia – a physical wasting syndrome characterized by loss of weigh and muscle mass. Involvement of the esophagus can result in difficulty swallowing (dysphagia), chest pain and heartburn. In some cases, CIP may affect the urinary tract or bladder causing symptoms such as widening of the small tubes that carry urine from the kidneys (ureters) and difficulty urinating (dysuria).

Chronic Intestinal Pseudo-Obstruction

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