As of 2017, EDS was classified into THIRTEEN different subgroups.
What many do not know is that Ehlers-Danlos Syndrom (EDS) is actually very common, but poorly understood. Because my daughter has one of the most common types of Ehlers-Danlos Syndrome, I will be focusing the majority of my posts on this type of EDS. BUT the DNA testing for the many forms of EDS is so complicated that it can be hard to get a diagnosis.Įven worse, the most common form of EDS which is Type 3 also known as hEDS is the only form of EDS where the underlying genetics or the gene is not known.įor us, this meant that even after our whole family got Whole Exome Sequencing done, the diagnosis for my daughter had to be a clinical one based on her symptoms and medical history. Most parents in this situation never knew they had EDS or have been misdiagnosed ( very commonly misdiagnosed with fibromyalgia) and many do not even have the same symptoms as their child.īecause of genetics, it is very common to see multiple siblings affected in a family, however, they may have completely different symptoms from each other.ĮDS is considered a Monogenic Disorder which means it is involved or controlled by one single gene. Parents with EDS have a 50/50 chance of passing it on to their children. Obviously, neither of these are true, which is why we as parents need to call for more training and awareness around EDS for clinicians. The problem is, there is such a range in how EDS affects patients and so the severity of progressiveness of the disease may differ from patient to patient.Īfter hearing that the symptoms of EDS start in childhood, it saddened me to know of many parents who cannot get a diagnosis of EDS for their child because doctors think it is “too rare” or that it’s only diagnosed in adults. These symptoms do start in childhood and progress through adulthood and are associated with chronic disability. Patients with Ehlers-Danlos will have a variety of symptoms including, but not limited to joint pain, cardiac symptoms, GI problems, dysautonomia, and autoimmune symptoms. This is why it can be difficult to diagnose! Tissue that connects, supports, binds, or separates other tissues or organs.”īecause connective tissue is everywhere in our body, Ehlers-Danlos Syndrome affects joints, skin, blood vessels and internal organs. According to the dictionary, connective tissue is: What is Ehlers-Danlos Syndrome (EDS)?Įhlers-Danlos Syndrome is a connective tissue disorder. I hope that in sharing, other parents can learn as well as know they are not alone.
#EHLERS DANLOS SYNDROME TYPE 3 PHOTOS SERIES#
Since I have so much to share, this will be a multi-post series on Ehlers-Danlos Syndrome, followed by one on Dysautonomia and POTS, and one on Mast Cell Disorders.
While I tend to do a lot of my own research, it was incredible to learn so much more about these conditions that affect my daughter’s body in a multitude of ways.
#EHLERS DANLOS SYNDROME TYPE 3 PHOTOS FULL#
For a full day, we listened to some of the top specialists around the country talk about Ehlers-Danlos, POTS, and Mast Cell Disorders. Last month (March 2018), we had the opportunity to go to an amazing conference at Children’s Hospital Colorado for families and parents of children with Ehlers-Danlos Syndrome. Now, that it’s been a year since finally getting answers, I’ve decided to open up and share everything we’ve learned – the good and the bad. We searched and searched for three years going all the way to even Boston to see 15 specialists in hope that they would find what was going on with my daughter. When you have all three of these together, they call it “The Trifecta.” Of course, you can have each one separately without the other, but more commonly you have at least two of the three disorders. It’s been exactly one year since my daughter received three official diagnoses of Ehlers-Danlos Syndrome Type 3, Dysautonomia (POTS), and Mastocytosis/Mast Cell Activation Disorder. Note: I may earn money or products from the companies, products, or links mentioned in this post.