So I know it's been a while since I posted anything - I'm working on streamlining a lot of things in my life and until I get all that figured out, blog posts and newsletters have been on the back burner - but this is too important not to post.
A dear friend of mine (friends since 6th grade or so if I remember right!) has been diagnosed with
Ehlers-Danlos Syndrome (EDS). She's always been active so to see her diagnosed with something that can limit her activity could be incredibly sad. However, in typical Carrie fashion, she won't let it get the better of her. She rans two businesses from home to help support her beautiful family and is using one of them to help raise awareness and funds for the
Ehlers Danlos National Foundation!
Here's where you come in! I'm sure that you have at LEAST one item you could use from Mary Kay...Sunscreen? lotion? New mascara? A new color of lip gloss? You're going to buy it anyway...might as well support a good cause, right?
3 simple steps YOU can do to help!
1. Comment on this blog or
email me and let me know you're up for joining my relay team. All you have to do is buy ONE item. That's it! Just for joining the relay, $1 is donated in your honor to the
Ehlers Danlos National Foundation! How cool is that?
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| We're the blue team...perfect! GO BLUE!! |
2. Want more than one item? Invite a friend who joins and get your second item for 50% off!
3. Invite more people or encourage your friend to invite others! The more we have on our team, the better because each member of the winning team (the team with the most members by the end of the month) gets a free sampler basket AND a $15.00 gift card! How awesome is that!
Want to know more about Carrie or EDS? Keep reading!
Carrie's Story
Hi, I am Carrie Bourgo, and I have
Ehlers-Danlos Syndrome (EDS) Type 3, also known as the hypermobility type. I have had this disease since birth but wasn’t diagnosed until I was 26 years old! I was 20 weeks pregnant with my second baby when I met Geneticist Dr. Clair Francomano in Baltimore, MA and she confirmed my diagnosis. Growing up I always had pains in my bones and joints, but they were
attributed to typical growing pains and my lack of gracefulness. I was a very active kid who loved to play outside and participate on sports teams such as track and softball. When I got into middle school I started playing volleyball and basketball and my volleyball career continued into college. Although I had many knee sprains and twisted my ankle a few too many times, I amazingly avoided any major injuries. I started wearing knee braces the summer before 7th grade due to knee pain that the doctor said was due to patella subluxation – my knee caps moved too much.
The pain never went away, but was at least bearable, but that was just the beginning. Soon enough my ankles, low back, upper back, shoulders, and ankles all had chronic pain. Even my fingers and toes would hurt! Anti-inflammatory drugs helped some along with ice, bracing, and rest, but it got to a point where I had to just learn to live with the pain. Doctors, trainers, and coaches had evaluated my complaints and couldn’t find anything really wrong so I became known as a hypochondriac. I also had strange episodes of vertigo and disequilibrium that came on with no warning.
Pregnancy took a huge toll on my body. As an athlete I had built up my muscles and they supported my loose joints, but when I became pregnant with my son my activity level became non-existent. I was just
12 weeks pregnant when I sprained my pubic bone while racing a couple kids I babysat for. I felt my right hip move out of socket and my pubic bones grind together. The initial pain dropped me to the ground and the damage to surrounding tissues lasted several weeks. As my belly grew, the less I was able to move and the more pain I experienced. After the birth of my son and the discovery of his milk protein allergy I changed my diet so I could continue breastfeeding. When he turned a year I assumed my regular diet and became very ill. I had frequent episodes of stroke-like symptoms and my legs became so weak and unstable I walked with a cane for 2 months. The severity of my symptoms was disregarded by doctors who couldn’t find a cause, even after thorough testing. I began searching online for answers. It was a message from an unknown forum member that led me to The Chiari Institute in NY in September of 2010. The neurologist there evaluated my MRIs and cat scans and x-rays and determined that I did not officially have Chiari, but low lying cerebral tonsils possibly due to
Ehlers-Danlos Syndrome. His referral to Dr. Francomano confirmed his suspicions. I’m now currently being evaluated for other diseases associated with
EDS, specifically MCAD (Mast Cell Activation Disorder).
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| Carrie and her cuties - Owen and Alana |
You’d think knowing the name of my disease would make it easier when receiving treatment from doctors, but because
EDS is rare it is misunderstood and overlooked. Rare diseases are symbolized with zebras or zebra print because zebra is a medical slang term for a surprising diagnosis. The term derives from the aphorism "When you hear hoofbeats behind you, don't expect to see a zebra."
The simplest way to help me and others with Ehlers Danlos Syndrome is to spread awareness. Please take a minute to share this story either through email or handing out copies. You never know, you might be the stranger that helps someone else find their diagnosis and get their life back.
Written by Carrie Bourgo
Information provided by Ehlers-Danlos National Foundation, http://www.ednf.org
WHAT IS EDS?
Individuals with EDS have a defect in their connective tissue, the tissue that provides support to many body parts such as the skin, muscles and ligaments. The fragile skin and unstable joints found in EDS are the result of faulty collagen. Collagen is a protein, which acts as a "glue" in the body, adding strength and elasticity to connective tissue. Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders, characterized by articular (joint) hypermobility, skin extensibility and tissue fragility. There are six major types of EDS. The different types of EDS are classified according to their manifestations of signs and symptoms. Each type of EDS is a distinct disorder that "runs true" in a family. This means that an individual with Vascular Type EDS will not have a child with Classical Type EDS.
SYMPTOMS OF EDS
Clinical manifestations of EDS are most often joint and skin related and may include:
Joints: joint hypermobility; loose/unstable joints which are prone to frequent dislocations and/or subluxations; joint pain; hyperextensible joints (they move beyond the joint's normal range); early onset of osteoarthritis.
Skin: soft velvety-like skin; variable skin hyperextensibility; fragile skin that tears or bruises easily (bruising may be severe); severe scarring; slow and poor wound healing; development of molluscoid pseudo tumors (fleshy lesions associated with scars over pressure areas).
Miscellaneous/Less Common: chronic, early onset, debilitating musculoskeletal pain (usually associated with the Hypermobility Type); arterial/intestinal/uterine fragility or rupture (usually associated with the Vascular Type);
Scoliosis at birth and scleral fragility (associated with the Kyphoscoliosis Type); poor muscle tone (associated with the Arthrochalasia Type); mitral valve prolapse; and gum disease.
PREVELANCE OF EDS
At this time, research statistics of EDS show the prevalence as 1 in 2,500 to 1 in 5,000. It is known to affect both males and females of all racial and ethnic backgrounds.
HOW IS EDS INHERITED?
The two known inheritance patterns for EDS include autosomal dominant and autosomal recessive. Specifics regarding genetic inheritance may be found by following the link below. Regardless of the inheritance pattern, we have no choice in which genes we pass on to our children.
PROGNOSIS
The prognosis of EDS depends on the specific type. Life expectancy can be shortened with the Vascular Type of EDS due to the possibility of organ and vessel rupture. Life expectancy is usually not affected in the other types
WHAT CAN I DO NOW?
The defining trait of those affected by EDS is the search for information. The rise in Internet usage has delivered a significant benefit to families affected by EDS. Help share the information and
visit the Ehlers Danlos National Foundation
www.EDNF.org or the Inspire Online Community
http://www.inspire.com/groups/ehlers-danlosnational-foundation/
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