Do We Look Normal to You? "Ehlers Danlos Syndrome" The Invisible Disorder
MISSION: To increase and bring greater awareness about Ehlers-Danlos Syndrome (EDS) a heritable disorder of connective tissues to the medical professions and in the public at large.To encourage teaching about these conditions in medical schools. To encourage the training health practitioners to identify, diagnose and treat this heritable connective tissue disorder. To foster future research.
Our Story
My name is Rabecca Primeau I suffer from EDS Classical Type I w/Vascular Troubles, My daughter Paris almost 11yrs has been diagnosed as well; we are not definite about our son Frank's diagnosis now 21 he recently had a near fatal auto accident and proved to be one of the most complicated cases doctors have ever seen. Frank had a simple broken femur and should have been out of the hospital in 4 days ended up staying from 1-15th 2007 till 4-5th-2007 40 of which were life support 17 days after his admission he was not expected to live. He beat the odds, which we give credit and thanks to the Lord. He had complication after complication and wasn’t free of the hospitals till July 2007 then was on home infusions. While Frank does not have a diagnosis of EDS he does show some signs of having it in a mild form, but at this point the doctors would not consider him to have enough to say yes. Our son Foxx, age 5 has a diagnosis of EDS. Our other son Sterling seems to only have a few signs of EDS not enough to diagnosis him thus far we shall see only time will tell. Our newest and last edition to the family is our daughter Prayz she does have EDS and appears to be much more floppier than her sister Paris. She was born with hip dysplasia and wears a hip brace at night when she lets me. Due to complications in my last 3 pregnancies being high risk we will not be having anymore children. The last three rounds I was on bed rest, early onset premature labor, hemorrhaging this last round I was rushed to the OR immediately after baby was delivered my cervix tore and the bleeding was not under control.
I went 30yrs of not knowing what was going on in my body. In 1998 my body started to suffer more in unexplainable pain. All the doctors were baffled and would state diagnosis unknown. It wasn't until my husband noticed my daughter at the age of 3 she wasn't extending her knees when she walked and was dragging her feet. We took her to her Ortho Dr. who was already treating her from a congenital hip dysplasia. After examining her he suspected Ehlers-Danlos Syndrome and referred us to Children's Hospital.
August 22nd 2000 we went for our evaluation at Children's and it was confirmed that we both suffer from Ehlers-Danlos Syndrome (EDS) Classical Type.
A skin biopsy was performed on me to rule out Vascular Type (VEDS) and sent to University of Washington. The biopsy results were unable to detect the biochemical marker found in most forms of VEDS. So our diagnosis of Classical Type w/ Vascular troubles remains until future biochemical testing is available. Although we show signs of Vascular Type a Geneticist told me that 15% of Classical types have vascular troubles. There is now a new Cardiac Valvular Form of EDS. This is the Classical type characteristic with Vascular heart troubles without all the other vascular issues as noted in the VEDS type. This may very well be the type we actually have and are taking measures to look into the new testing for this type of EDS. There is also new EDS type called Valvular form, which is basically Classical type with heart issues.
It is important that we educated ourselves about this genetic disorder, the medical field is still new in their research but have come a long way in understanding EDS and it's life threatening issues.
The downside of it is that the medical doctors are not being educated enough about the symptoms, signs and effects of EDS patients, which has led to diagnostic errors and or simply undiagnosed. Since the diagnosis of Ehlers-Danlos Syndrome is based upon the clinical findings of the patient and the family history it is necessary they are educated and well informed about this rare inherited disorder
EDS
My childhood story and the road to a diagnosis
To be updated
GreatLakesEDNF@yahoo.com
Disclaimer
EDS Genetic Connection will strive to provide up-to-date, accurate, and useful information to you. This web-site will contain several links to other sites on a variety of topics as well as photo's of those who suffer from EDS. These links are provided to aid in your personal research.
Information on these pages should NEVER take the place of consulting with your doctor.
It is our desire at EDS Genetic Connection that you will use this information to better understand Ehlers-Danlos Syndrome and it's effects on those who suffer from it daily.
Views expressed by EDS Genetic Connection are based on personal experience, research and or my own personal genetic counselor.
EDS Genetic Connection
