kmeans

Everyday you pass people like me on the street. We smile, look
normal, but you have no idea what is going on beneath the
surface. The way I look is no reflection of how healthy I am. Underneath
my skin, I am actually falling apart as I struggle daily with
simple tasks. For ten years, I suffered from chronic, nearly debilitating
pain, and despite aggressively seeking answers from many doctors, I
was never able to find answers for my suffering. Last year, I finally
received the answer for which I had been looking. It came in the form
of a life-changing diagnosis of Ehlers-Danlos Syndrome (EDS). The
diagnosis was bittersweet. I finally had answers to why my body
seemed to be falling apart, but my life would never again be the same.
EDS is a genetic disorder that causes a defect in connective
tissue, the tissue that provides support to many body parts such as
the skin, muscles, blood vessels, ligaments, and other organs. The
fragile, stretchy skin and unstable, hypermobile joints found in EDS
happen because of faulty collagen. Collagen is a protein, which acts as
a “glue” in the body, adding strength to connective tissue. The
collagen in your body essentially holds it together.
Without proper treatment and monitoring, EDS can be
life-threatening. Even with treatment EDS is debilitating. There is no
cure for EDS. The longer EDS is left untreated in a symptomatic
person, the worse it gets. That is why early diagnosis and education is
extremely important. EDS is known as the invisible illness because
we look just like everyone else and seem to have normal, healthy
lives. We’ve had to live with our physical difficulties our whole lives,
so many of us have learned how to smile through a great deal of pain.
Unfortunately, due to misunderstandings about EDS and despite my
symptoms, it took me twenty-nine years to receive my diagnosis.
Growing up, I was always flexible, prone to injury, and constantly
had aches and pains. I frequently needed surgeries to correct my
injuries. I was very active in sports and mistakenly blamed my injuries
on overusing my body. When I was nineteen my pain had become
nearly unbearable and I was no longer cleared to play collegiate
softball. My symtpoms baffled doctors, due to the lack of awareness
about EDS. As a result, I received many misdiagnoses. When I was
finally diagnosed, last year, I felt as if my identity had been stolen. My
life, as I knew it, would be different, forever. I realized that I would
not be able to continue doing many things that I enjoy. Since there is
no cure for EDS, I have had to completely adapt my lifestyle.
One adaptation is bracing. As my joints become more and more
unstable, I need to brace them to hold them in place. I have braces for
my hands, neck, back and ankles. There is not a minute, of any day,
that I forget I have EDS. I must make choices daily on how I will
exert my energy and body. I must maintain awareness of every
movement. Something as easy as putting on a shoe can dislocate the
joints in my hand. As a mom, I find great joy in the simple embrace of
my children. However, if I choose to hold one of my kids for a few
minutes, I struggle with serious pain the remainder of the day and
into the next day. Tasks, thought to be simple by most, can become
huge challenges for me.
People who have EDS often struggle with other disorders as
well. Without receiving the proper care, my body had been unnecessarily
damaged. As a fourth grade teacher, I love my job, but was left
with no choice but to take the year off to have a series of surgeries. In
April, 2010 I had a brain surgery that corrected four different
problems. The surgery was for a chiari malformation, it realigned and
fused my cervical vertebrae to my cranium, and fixed the angle of my
brainstem. My other surgeries have included a tethered spinal cord,
two surgeries for hydrocephalus, and a thoracic outlet syndrome
surgery that involved removal of a rib. With a family at home, and not
being able to take care of myself at times, the struggles I have faced in
the last year have been extremely challenging, emotionally and
physically. Thankfully, I have amazing people surrounding me who
have supported me and helped me to stay positive.
I have known for years that I was ill. What I was not prepared
for was the reality that my genetic illness would not stop with me. I
had a fifty percent chance of passing EDS to each of my two boys. We
were devastated when my oldest son, Braeden, tested positive. He
will face immense challenges in his life and will not be able to play the
sports he loves. Our hopes and dreams of what the future held for
the family had fallen apart in a matter of months. Thinking ofBraeden going through the struggles that I have faced hurts worse
than any pain with which I have had to deal. As difficult as this is for
our family to accept, we actually feel blessed because we are one of
the lucky EDS families. With early diagnosis we can be proactive
with treatments. At four years old, he has faced adult problems and
has amazed us with his ability to adapt with a smile. Throughout his
life, he will be closely monitored by doctors. In addition, he will
require genetic counseling and therapy. All of these adaptations will
help him to have the best quality of life possible.
Early diagnosis of EDS is crucial in order to manage symptoms.
The lack of awareness about EDS leads to many children being
misdiagnosed with growing pains. Early diagnosis can prevent serious
damage to their young bodies. As a parent, you want to help your
children to have long, happy lives. Unfortunately, most parents who
unknowingly have children with EDS may never see their children
experience the quality of life they may have otherwise enjoyed with
an early diagnosis. This is why awareness about EDS is extremely
important. EDS awareness impacts the lives of not just one person,
but entire families.
Family and friends often resort to putting their lives on hold to
help us get through ours. Although this isn’t the life I would have
dreamt for my family, my diagnosis has changed my purpose in life.
My purpose, now, is to do as much as I can to raise awareness of
EDS, early diagnosis, treatment, and support groups. Many do not
have the support to help them make it through each day. Throughout
the difficult journey my family has faced, we feel blessed with
those around us. We have had the opportunity to see how caring
people can be. Each person, who has helped my family through this
difficult time, has made a difference in our lives, and made me feel
very fortunate to have such a great support system. We know that
although we will have our struggles, we are in a caring community
who will support us through anything. We are grateful.