Today is International Rare Disease Day, and I'd like to take a minute to share some information about the rare diseases I have, Cushing's Disease, Adult Growth Hormone Deficiency, and Hypoaldosteronism.
All three of these diseases are often misdiagnosed as Chronic Fatigue Syndrome, Fibromyalgia, "Adrenal Fatigue", etc...or doctors fail to see that the problems caused are symptoms of disease, not individual, unrelated diseases in and of themselves. For instance: obesity, depression, anxiety, high blood pressure, diabetes, etc.
I'll post some basic symptoms for each condition (not everyone has each symptom), with a link to further information if anything rings true for you or someone you know. And, feel free to have them contact me. Finding information, support, and doctors who know how to test, diagnose, and treat rare conditions can be the hardest part of this battle. While none of these currently have a lasting cure, all can be treated with drastic improvements in quality of life.
Cushing's Disease
Central obesity with thin arms and legs
Round, red, full face (moon face)
Slow growth rate in children
Acne or skin infections
Stretch marks (especially if 1/2 inch or more wide), called striae, on the skin of the abdomen, thighs, and breasts
Thin skin with easy bruising, most commonly on the arms and hands
Buffalo hump (at the back of the neck)
Bone pain or tenderness
Collection of fat between the shoulders (buffalo hump)
Thinning of the bones, which leads to rib and spine fractures
Weak muscles
Excess hair growth on the face, neck, chest, abdomen, and thighs
Menstrual cycle that becomes irregular or stops
Decreased or no desire for sex
Impotence
Mental changes, such as depression, anxiety, or changes in behavior
Difficulty sleeping at night
Fatigue
Headache
Increased thirst and urination
May present with cyclic/episodic "low" episodes of cortisol that can lead to Adrenal Crisis (shock, hypoglycemia, seizure, coma and death)
Round, red, full face (moon face)
Slow growth rate in children
Acne or skin infections
Stretch marks (especially if 1/2 inch or more wide), called striae, on the skin of the abdomen, thighs, and breasts
Thin skin with easy bruising, most commonly on the arms and hands
Buffalo hump (at the back of the neck)
Bone pain or tenderness
Collection of fat between the shoulders (buffalo hump)
Thinning of the bones, which leads to rib and spine fractures
Weak muscles
Excess hair growth on the face, neck, chest, abdomen, and thighs
Menstrual cycle that becomes irregular or stops
Decreased or no desire for sex
Impotence
Mental changes, such as depression, anxiety, or changes in behavior
Difficulty sleeping at night
Fatigue
Headache
Increased thirst and urination
May present with cyclic/episodic "low" episodes of cortisol that can lead to Adrenal Crisis (shock, hypoglycemia, seizure, coma and death)
Adult Growth Hormone Deficiency
Changes in memory, processing speed and attention
Lack of well-being
Depression
Anxiety
Social isolation
Fatigue
Lack of strength
Fibromyalgia syndrome
Neuromuscular dysfunction
Central adiposity
Decreased muscle mass
Decreased bone density
Impaired cardiac function
Decreased insulin sensitivity
Accelerated atherogenesis with increased carotid intima–media thickness
Increased low-density lipoprotein
Prothrombotic state
Decreased sweating and thermoregulation
Lack of well-being
Depression
Anxiety
Social isolation
Fatigue
Lack of strength
Fibromyalgia syndrome
Neuromuscular dysfunction
Central adiposity
Decreased muscle mass
Decreased bone density
Impaired cardiac function
Decreased insulin sensitivity
Accelerated atherogenesis with increased carotid intima–media thickness
Increased low-density lipoprotein
Prothrombotic state
Decreased sweating and thermoregulation
Hypoaldosteronism
High or erratic pulse/palpitations
Low blood pressure
Piercing headache
Dehydration, thirsty
Cold hands and/or feet (possible numbness or tingling)
Shaky hands
Muscle spasms or cramps
Low sodium
Difficulty tasting salt at normal levels, salt craving
Dizziness (especially upon standing)
Weepiness, despair
Fatigue, sleepiness, needing naps
Increased Urination (especially after lying down an hour or two)
High potassium
High renin
Nausea, anorexia
Can lead to adrenal crisis (shock, hyponatremia and hyperkalemia, seizure, coma and death)
Low blood pressure
Piercing headache
Dehydration, thirsty
Cold hands and/or feet (possible numbness or tingling)
Shaky hands
Muscle spasms or cramps
Low sodium
Difficulty tasting salt at normal levels, salt craving
Dizziness (especially upon standing)
Weepiness, despair
Fatigue, sleepiness, needing naps
Increased Urination (especially after lying down an hour or two)
High potassium
High renin
Nausea, anorexia
Can lead to adrenal crisis (shock, hyponatremia and hyperkalemia, seizure, coma and death)
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