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.”(http://en.wikipedia.org/wiki/Syringomyelia)
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. (http://en.wikipedia.org/wiki/Complex_regional_pain_syndrome)
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.
(http://genetics.emedtv.com/turner-syndrome/turner-syndrome.html) 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. (http://ghr.nlm.nih.gov/condition/triple-x-syndrome)
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.”
(http://nips.med-web.com/Handouts/Individual%20Pages/Jenny%27s%20Handouts/j-psa.htm)
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.” (http://www.webmd.com/fibromyalgia/default.htm)
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.” (http://www.smallfiberneuropathy.net/)
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.
