Ehlers-Danlos Syndrome Support Group
Ehlers-Danlos syndrome is a group of rare genetic disorders caused by a defect in collagen synthesis. Depending on the individual mutation, the severity of the disease can vary from mild to life-threatening. Common symptoms are unstable, flexible joints with a tendency to dislocate and subluxate, and elastic, fragile, soft skin that easily forms welts and scars.
Hello All,
I have a 25 year old daughter who l have asked to go and get some genetic testing as l feel certain she has this syndrome.
She had knee dislocations for the age of about 9 or ten. She has since had two knee operations on each knee. So four in total. She has had a tiibial tuberosity on both knees. This is what the orthopaedic surgeon recommended to prevent the constant knee dislocations.
Her brother refused to help her get to her feet when she fell ( you know grabbing her hand and pulling her to her feet ) as he said her fingers crunched too much. Her fingers are loose and her shoulders as well, As are many of her joints. She has also had shoulder dislocations. Her skin takes longer to heal when she is injured and gets stretch marks when even a small amount of weight is lost or gained.
I assume this sounds very familiar.
My question to you all is how have you manged to get your diagnosis. Genetic testing or examination from a rheumy. Can she also be tested for another disease that runs in our family. I have behcets disease and fear passing this on. So far she has shown no signs of this one thankfully,
Thank you all and will be waiting for any responses.
Worried Mum
Lorna.k.c
I have a 25 year old daughter who l have asked to go and get some genetic testing as l feel certain she has this syndrome.
She had knee dislocations for the age of about 9 or ten. She has since had two knee operations on each knee. So four in total. She has had a tiibial tuberosity on both knees. This is what the orthopaedic surgeon recommended to prevent the constant knee dislocations.
Her brother refused to help her get to her feet when she fell ( you know grabbing her hand and pulling her to her feet ) as he said her fingers crunched too much. Her fingers are loose and her shoulders as well, As are many of her joints. She has also had shoulder dislocations. Her skin takes longer to heal when she is injured and gets stretch marks when even a small amount of weight is lost or gained.
I assume this sounds very familiar.
My question to you all is how have you manged to get your diagnosis. Genetic testing or examination from a rheumy. Can she also be tested for another disease that runs in our family. I have behcets disease and fear passing this on. So far she has shown no signs of this one thankfully,
Thank you all and will be waiting for any responses.
Worried Mum
Lorna.k.c
I have actually talked to my Rheumy ( I have one for my Behcets ) and her recommendation was too seek genetic testing. She also told me where to go for this. In Australia if you go through a public hospital and are placed on waiting list you get the treatment for free under medicare. However you do have to wait till your number comes up.
On another topic what are they doing as far as treament goes to help you?? Is there anything apart from just managing the symptoms.
What are your symptoms and have you been aware something was wrong for a very long time. My daughter knew she was not "normal" but we did not know exactly what was wrong. My son, her brother has also got minor problems with his flexibility. You know what l mean. He is thankfully no where as bad as she is.
Thank you for you advice.
Lorna.k.c
As for treatment, NONE! Self awareness is the best practice keep in shape eat well, stretching and yoga, anything that is very low impact for exercise. Stay around positive people b/c depression is very common, due to the fact that every day hurts and we hurt our selves doing the most ridiculous things like getting out of bed or up from the couch. Please only use chiropractors for emergencies along with surgeons. The chiro will stretch the joints even more. I also have been told not to stretch but I find that is the single most helpful thing for my back. All of my ribs and vertebrae dislocate and having tight muscles pull them out and keep them out. Stay off the meds if they can help it. I find they don't work or help anyway because the pain is way too much.
As for your Son please make sure he knows how important it will be to not do major physical exercise (high Impact) once we hurt our joints and there is no going back back. I was in construction my whole life until I couldn't bear the pain and it was the worst thing I could have ever done to myself. He might feel pretty good for now but 20 years down the road could be a very hard life waiting for him.
Do you have EDS? My mother passed it to me? It seems like the farther down the genetic line it goes the worse it gets. Your Kids might want to adopt if they are thinking about having children. Welcome to the site and Best wishes to you and your family!
It has been a long road to finally get an answer to her issues. My daughter knew she was not " normal " as such but we could not tell her what she had. She can do things with her joints that are scary. I have asked not to do these circus act things she can do with her body for fear of more damage I mean this is the nicest possible way. Not a deroagotory way.
I also want to have her heart checked as well.
I do not have ESD. I was however very very flexible as a child and am still more flexible than most people of my age group
As for my son he has never been overly sporty. He is in the navy and only just maintains the minimum amount of fitness to keep the bosses happy.
Thank you for you reply.
Take care
Lorna.k.c
Uh, you might not have ESD, but it sounds like you have EDS. It almost always is inherited and sometimes from very subtle cases. The clinical criteria is loosened if a first-degree relative has the Ehlers-Danlos diagnosis.
Thank you for your reply. Please can you explain what is EDS. If this is so then l feel l will not be pursuing any treatment or diagnosis at all. Unless this impacts on my daughter l feel no need.
I have lived a life time with this EDS, if l indeed l have this?? I know l would have made an excellent gymnast as a child if the chance had been given to me.Lol
My daughter has far worse issues than l. I already have behcet,s disease to deal with and this is enough for one life time.
Would be pleased if you could reply and explain your reasoning and what this EDS is.
Lorna.k.c
Whether you want to diagnose it in yourself or not hardly matters as long as you don't have unexplained health issues and are not seeking surgery for anything (and presuming you don't want to have any more kids). I bet that if your daughter is diagnosed with EDS, eventually she will want to know for sure if you have it.
So can anyone explain ESD as l understand the EDS syndrome completely.
Again thank you all
Lorna.k.c