May is Ehlers-Danlos Syndrome Awareness Month. How coincidental that through much testing and evaluating, that Gretta was officially diagnosed on May 24, 2012 with Ehlers-Danlos Syndrome Type III.
We always thought that Gretta was very flexible ad hypermobile, but after several episodes of subulaxation and full dislocation of several joints it became alarming to us. We visited with Gretta's PCP, then a pediatric orthopediatic, and then a developmental pediatrician who specializes in genetics and they all three agree that she has EDS. Due to the nature of EDS Gretta has a follow up echocardiogram (they found a stage II out of VI murmur), as well as she must follow with a pediatric opthamologist. These tests will also confirm that she has EDS TYPE III
Gretta is about the youngest they have seen with having issues of subulaxations and dislocations, so some of the testing we have to wait until she is closer to school age.
Although I have many questions and thoughts on all of this, I am here to share what Ehlers-Danlos Syndrome is.
Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that weaken connective tissues. In Ehlers-Danlos syndrome, genetic mutations disrupt the production of collagen, a chief component of connective tissue.Connective tissues are proteins that support skin, bones, blood vessels and other organs. Doctors have identified several types of Ehlers-Danlos syndrome with varying symptoms, but all types affect your joints, and most affect your skin. Prominent signs and symptoms of Ehlers-Danlos syndrome include stretchy, fragile skin and flexible joints that extend beyond the normal range of movement. It's possible to have very flexible, or "double" joints. This isn't the same as Ehlers-Danlos syndrome.
EDS usually affects your skin, joints and blood vessel walls. Symptoms include
• Loose joints
• Fragile, small blood vessels
• Abnormal scar formation and wound healing
• Soft, velvety, stretchy skin that bruises easily
There are several types of EDS (believed 6 or 7). They can range from mild to life-threatening. There is no cure. Treatment involves managing symptoms. It also includes learning how to protect your joints and prevent injuries.
The following are specific symptoms of EDS-Type III. At this time we have not seen easy bruising and at this time due to her age we are unable to really assess her muscle fatigue and pain which will have to be tested a few years down the road.
Hypermobility type (formerly type III) EDS
This type affects approximately 1 in 10,000 to 15,000 people. Signs and symptoms include:
Loose, unstable joints with many dislocations
Easy bruising
Muscle fatigue and pain
Chronic degenerative joint disease
Advanced premature osteoarthritis with chronic pain
Heart valve problems (mitral valve prolapse and aortic root dilation)
The gene for EDS is a dominant gene, which means 50% of our children will have this type. Our children will only exhibit the type that Gretta has. Gretta will likely will begin both occupational and physical therapy around school age to help strengthen her unstable joints. We are thankful that we have answers and that we have a very healthy little girl. We now know how to help manage Gretta. We are praying that her mumur is begnin, and her echocardiogram results will be normal. At this time, Gretta's corneal light reflexes and iris testing were normal in the office, so we are praying that the results of testing with the pediatric opthamologist will continue to be normal.
Here is a link to an indepth look at what Ehlers Danlos Syndrome is: http://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706
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