Today is Rare Disease Day

The Last day of Feb is Rare Disease Day

I know that I have posted about some of my medical issues before but today is the day that I am choosing to tell you about some very rare things that I deal with. I’m not asking for sympathy, I’m asking you to take a look and educate yourself about some of the things that you may never have heard of. I'm asking that you take a look at these so that others might not have to suffer from the emotional pain that comes with these disorders. I’m also asking you to take a look so that you might be able to better understand me and why I am sick all of the time. I don’t see these things as unfair and I don’t feel jilted by life, but I do feel misunderstood and taken advantage of and blamed at times for my conditions. If you have known me since childhood or young adulthood, then you know that I have been overweight my entire life. If I was going to be skinny by now, I would have been so it’s just not going to happen for me. I can lose small amounts of weight at times, but no matter how hard I try it is just not physically, or at this point medically possible for me to lose weight because of a condition that I was born with. So, to start with my list of rare conditions let me start with what I think is a blessing as far as my self-esteem goes. I didn’t know until just a few years ago that my weight was a problem that I can’t do much about and that I was born with the problem because of EDS. If I would have known this information when I was a child I believe I would have confidence to go out in public without worrying what others are thinking of me because of my weight. When I do remember that this weight isn’t all my fault, then I can remind myself that I’m not all of the ugly things that were said to me that caused me to believe that I’m a bad person because I grew up being overweight. Speaking of rare things, It is a rare day that I can remember that all the names that I’ve been called and all the lectures that I’ve been given in life and all the doctors who have told me that I’m just lazy concerning me being overweight is not what I am. I feel this way because I’ve been belittled my whole life for it by all but maybe a very small handful of people who saw me rather than my weight and you know who you are and Thank you from the bottom of my heart.  It was and is cruel for this to still be going on in my life. It is bullying and still to this day is why I believe that friends and family don’t understand why I need so much help with the house and taking care of my mom and why I can’t just jump up and do the things that I used to do. There are reasons beyond what even I have seen until just the past few years. While I’m being honest, I don’t go to events where I will know people there that I could go to with my wheelchair because I know that people think that my weight is the problem as to why I can’t stand up for long or walk very far. Not attending church is a good example. Before I got my chair I wasn't able to attend because it was so tiring. I still get tired using my chair but it's not nearly as severe since my chair saves my energy a bit.
Having a rare disorder is life changing but having as many as I have the hardest part of being alive for me is because of my weight and how much I have to watch that I don’t get even larger and how much I fight depression and often suicidal thoughts because of how I have been treated by society because I’m overweight. If you struggle with your weight, then you know exactly what I mean by this.

Rare Conditions:

Each day I am dizzy, have a headache, body pain throughout, several joint dislocations or subluxations, muscle cramps and burning muscles, confusion, irritability, chronic fatigue, insomnia, and heart palpitations and I feel like I have the flu on the worst day of the flu and most of all discouragement just to name a few. I wake up with these feelings and it goes downhill from there. 

So, here is a list of some of the rare conditions I have and a brief explanation of them. 

Hypothalamic obesity is a rare disorder that I was born with because of EDS. It is caused by damage to the hypothalamic gland. This happened to me because I was born with a form of Intracranial hypertension -External Communicating Intracranial Pressure/Hydrocephalus. When this happens, the hypothalamic gland can be damaged and these patients gain weight even in response to caloric restriction and attempts at lifestyle modification are useless to prevent or treat the obesity. Therefore, I have dealt with being overweight and staying overweight my entire life. Although I have been and am overweight, weight has not been the cause of my physical problems. People that are very thin, middle-sized and heavy have the same problems who have EDS. Weight is not an issue in my disorders other than making them more difficult to deal with. Losing weight, if I could, would not fix or make any of my pain or disorders go away.

Elhers-Danlos Syndrome Classical type is a genetic connective tissue disorder that is caused by defects in a protein called collagen. Collagen is like the glue that holds your body together. We are made of 80% collagen so that means that it is in every single part of your body.  

EDS is different in each person and because there are so many symptoms that match other illnesses EDS is often left undiagnosed until patients are in their 30’s or 40’s.

There are about 13 different types of EDS and most people, for sure myself, have cross overs from one type to another or more.

There is no cure for EDS and there are no medicines for it other than an attempt at lessening the chronic pain. Patients with EDS have chronic pain 24/7.

There are times that I have to wear splints to keep from hurting so badly because of dislocation or subluxations, but the pain is always there. This is a progressive disorder and I already have to use a wheelchair at certain times and I’m very afraid that I’m going to be using it full time within the next year or so.

Osteogenesis Imperfecta Type 1 is a condition in which bones easily break due to an abnormality in the collagen required for bone strength. Osteogenesis imperfecta (OI) or Brittle Bone Disease is a complicated, variable and rare disorder. Its major feature is a fragile skeleton, but many other body systems are also affected.

People with OI experience frequent broken bones from infancy through puberty. The frequency typically decreases in the young adult years but may increase again later in life. Respiratory problems including asthma are often seen. Other medical characteristics and issues include:

 Bone deformity, and bone pain.

Short stature.

Spine curves.

Low Bone Density.

Loose joints, ligament laxity, and muscle weakness are common.

Distinctive features of the skull including late closing fontanels, and head circumference greater than average.

Hearing loss may begin in the early 20s and by middle age is present in more than 50% of people with OI.

Brittle teeth (called dentinogenesis imperfecta or DI) are seen in 50% of people who have OI

Respiratory problems including asthma; may be aggravated by chest wall deformity and/or spine deformity.

Vision problems including myopia and risk for retinal detachment

Skin hyperlaxity; easy bruising.

Cardiac issues.

Fatigue.

Skin, blood vessels, and internal organs may be fragile.

People with Type I OI, the type that I have, the mildest and most common form, may have only a handful of fractures or as many as several dozen fractures in a lifetime. They may have few obvious signs of the disorder. There usually is little or no bone deformity. Height is less affected than in other types of OI. People with Type I OI are often similar in height to other family members. Muscle weakness, joint laxity, and flat feet are common. Dislocations and sprains may occur as well as fractures. Life expectancy appears to be average.

Platypnea-orthodeoxia This is caused, for me, because of a hole that I have in my heart that I was born with. The hole opens and closes depending on the position my body is in. I have been told by my heart doctor that less than 30 people in the world have this disorder. I would call that pretty rate. The symptoms occur when the patient is upright, sitting up or standing, and go away quickly when the patient lays down. I will share more about this syndrome in another post.

Chari Malformation Type 0 - Chiari (pronounced key-AR-ee) malformation is a condition in which the lower part of the brain, called the cerebellum, herniates through the skull and down into the spinal canal. The herniated tissue compresses the brainstem and blocks the normal flow of cerebrospinal fluid (CSF). The blockage can then cause a buildup of fluid in the spinal cord (syringomyelia) or in the brain (hydrocephalus). Chiari is often misdiagnosed because of the wide variety of bony and soft tissue abnormalities that compress the cervical spinal cord, brainstem, or cranial nerves, resulting in a wide array of possible symptoms. Symptoms include headache, neck pain, dizziness, arm numbness or weakness, sleep problems, fatigue, etc. Headache in the back of the head that worsens with coughing, sneezing, or straining is a hallmark symptom.

Chiari type 0, a newly identified form of Chiari, describes the absence (or a “zero” herniation) of the tonsils below the foramen magnum. Yet Chiari 0 includes the presence of both symptoms and a syrinx in the spinal cord. This new type is under study and controversial.

Dysautonomia,  Dysautonomia refers to a disorder of autonomic nervous system (ANS) function that generally involves failure of the sympathetic or parasympathetic components of the ANS, but dysautonomia involving excessive or overactive ANS actions also can occur.

Primary dysautonomia is usually inherited or due to a degenerative disease, while secondary dysautonomias result from another condition or injury. The most common types are neurocardiogenic syncope, which leads to fainting.

Common symptoms include:

an inability to stay upright

dizziness, vertigo, and fainting

fast, slow, or irregular heartbeat

chest pain

low blood pressure

problems with the gastrointestinal system

nausea

disturbances in the visual field

weakness

breathing difficulties

mood swings

anxiety

fatigue and intolerance to exercise

migraines

tremors

disrupted sleep pattern

frequent urination

Temperature Regulation Problems

concentration and memory problems

poor appetite

overactive senses, especially when exposed to noise and light

These can occur in a range of combinations, making dysautonomia a difficult condition to diagnose.

 Mast Cell Activation Syndrome (MCAS) Mast cells are allergy cells responsible for immediate allergic reactions. They cause allergic symptoms by releasing products called “mediators” stored inside them or made by them. ... Sometimes mast cells become defective and release mediators because of abnormal internal signals. This is not the same as having hay fever or being allergic to grass. Anything at any time can cause an allergic reaction, even if it has never caused one for you before. Also, stress, pain, depression, and fatigue can cause a MCAS that takes days to weeks to clear up.

The symptoms most consistent with anaphylaxis are:

•    Heart-related symptoms: rapid pulse (tachycardia), low blood pressure (hypotension) and passing out (syncope).

•    Skin-related symptoms: itching (pruritus), hives (urticaria), swelling (angioedema) and skin turning red (flushing).

•    Lung related symptoms: wheezing, shortness of breath and harsh noise when breathing (stridor) that occurs with throat swelling.

•    Gastrointestinal tract symptoms: diarrhea, nausea with vomiting and crampy abdominal pain. 

I always say since I am a single gal, "Boy you would think that with all these rare conditions some guy would want a rare jewel like me but the problem is that I'm like an old rare rock."