Friday, March 1, 2013

International Rare Disease Awareness Day

Yesterday was International Rare Disease Awareness Day, and I asked my fans to please share what rare diseases they were struggling with.  Today, I’m going to give a little insight to the diseases that have been posted so that we can all become a little more knowledgeable and aware of these.
First, I will start out with myself.  Our family is affected by some rare diseases and we are vigilant all the time about these.  The healthiest one in our family is the smallest one…go figure. 

 So, for myself, I cope with a Syrinx, Hashimoto’s Thyroiditis Reflex Sympathetic Dystrophy, and the doctors are still on the fence as to whether or not I have the Polycythemia that is prominent in our family.  

I don’t think I was diagnosed with Syringomyelia, but that is the cause of my Syrinx, so I will put both here.  “Syringomyelia is a generic term referring to a disorder in which a cyst or cavity forms within the spinal cord. This cyst is called a syrinx.  The damage may result in pain, paralysis, weakness, and stiffness in the back, shoulders, and extremities. Syringomyelia may also cause a loss of the ability to feel extremes of hot or cold, especially in the hands.”( For me, I have the pain, and numbness in my arms and hands.  I guess you can say I’m lucky because my Syrinx isn’t that bad and I can cope with the pain.  This is the reason that I type a lot more than actually write, because when I write, my hands go numb in less than 5 minutes and I have to shake them out and take several breaks. I have to say here that one of my fans also posted yesterday that they have Syringomyelia.

A couple of years ago I was diagnosed with Hashimoto’s Thyroiditis.  In my case, I went to my doctor because I was tired all the time, DH said my neck was swollen (like I had a goiter) and my fingers were swelling and very red.  At first he suspected Rheumatoid Arthritis, but when that came back negative, he did the thyroid tests.  We’ve decided to do a conservative treatment for me which is do nothing until it acts up, then get a steroid shot to reduce the swelling of my thyroid. Eventually, my body will kill my thyroid and I will have to be on thyroid medicine, but until then I deal with the fatigue.  

I, myself, haven’t been diagnosed with Polycythemia, but several family members on my dad’s side have.  The doctors watch my blood counts carefully and I have to go to a hematologist every 6 months to get a checkup.  My blood counts have always been on the high side of normal, but right now, it’s acceptable to the doctors.  Polycythemia is a blood disease that results in the over production of red blood cells, making it very easy for people to get blood clots, strokes and other blood related diseases.  The treatment is old fashioned and basically involves “bleeding”.  Yes, they remove some blood so that your blood stream can operate more efficiently.  With this disease, we suspect that my grandmother and my uncle had it; my grandmother because she had SEVERAL strokes, and my uncle because he had SEVERAL blood clots which eventually killed him.  

Many years ago, I got a really bad ankle sprain.  Me being TheMarciFactor, I developed what is called Reflex Sympathetic Dystrophy in that ankle.  Reflex Sympathetic Dystrophy and Complex Regional Pain Syndrome is basically the same thing and are characterized by “a chronic systemic disease characterized by severe pain, swelling, and changes in the skin.” Basically, I tell people that when I had the sprained ankle my nervous system went into overdrive and tells my brain that it’s still messed up…which results in a messed up ankle.  When the pain gets really bad for me, I wear my AFO to take the work out of my ankle and let it rest, which usually results in less pain.  This is a very painful condition and there are a variety of ways in which to treat this, which is the decision of the person affected and their doctor.  (

Another rare disease that affects our family is Normal Pressure Hydrocephalus.  DH started having headaches EVERY DAY when he was in Iraq. When he came home and retired, he was taking on average 10 aspirin a day just to ease the pain, though the headaches never went away.  When I married him, I was concerned about the amount of aspirin he was taking and demanded he went to the doctor about it.  They did a MRI and was diagnosed with Normal Pressure Hydrocephalus.  It was causing problems with his gait and memory.  Even though he does have a shunt now, he will always have the Hydrocephalus diagnosis and the gait and memory problems that affect it. 
CHARGE syndrome is a disease that one of my fans is coping with.  CHARGE stands for coloboma of the eye, heart defects, atresia of the nasal choane, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness.  The genetic mutation is in the CHD7 gene.  Some people with this syndrome need a lot of medical support and some thrive, every case is different.  I know that my fan that is coping with this is a big time advocate for her children.  

Mosaic Turner Syndrome is a problem with one of the two X chromosomes and only affects females.  Turner Syndrome generally causes an array of features and symptoms, including short stature, infertility, and heart defects. ( My fan’s daughter that has been diagnosed with CHARGE syndrome has also been diagnosed with Mosaic Turner Syndrome.

This fan’s daughter has also been diagnosed with Triple X Syndrome or Trisomy X.  Triple X syndrome is associated with an increased risk of learning disabilities and delayed development of speech and language skills. Delayed development of motor skills (such as sitting and walking), weak muscle tone (hypotonia), and behavioral and emotional difficulties are also possible, but these characteristics vary widely among affected girls and women. Seizures or kidney abnormalities occur in about 10 percent of affected females. (

Next is Streptococcal Arthritis which another fan is coping with.  Here is what I found on this:
The term post-streptococcal arthritis was introduced in 1959 to denote patients who had arthritis following pharyngeal infection with beta hemolytic streptococcus, but in whom other major criteria of Acute Rheumatic Fever were absent.”  (

Fibromyalgia is a rare disease that was listed, but is becoming more common because doctors are becoming more aware of it.  “Fibromyalgia syndrome affects the muscles and soft tissue. Fibromyalgia symptoms include chronic pain in the muscles, fatigue, sleep problems and painful tender points or trigger points at certain parts of the body. Fibromyalgia pain and other symptoms can be relieved through medications, lifestyle changes, stress management, and other fibromyalgia treatment.” (

Small Nerve Fiber Neuropathy, or basically Neuropathy is also a painful disease which affects “tens of millions of Americans. Sufferers experience pain and burning sensations in their toes, feet, legs and hands. Many cannot touch their feet to carpet without feeling excruciating pain. Others develop numbness over time and eventually cannot feel anything, which causes a loss in balance and coordination. The medical community has concluded that there is no cure for neuropathy. Most Doctors treat the symptoms by prescribing habit forming pain killers and anti-depressants.” (

I would like to thank my fans for sharing with me the rare diseases that they are coping with on a daily basis and hopefully with more awareness, there can be better treatments for most of these.