EDS

[beckie1308]

Hi I’ve only recently heard about Ehlers-Danlos Syndrome. I have been looking for something to explain and connect my numerous ailments. (otherwise its just bad luck);-) I have seen a geneticist regarding suspected neurofibromatosis but this has now been disregarded as a possible explanation. I’m female and 21.

I wanted to ask others with knowledge on the EDS what they thought, I am not particularly flexible, and wondered if all people with EDS are overtly flexible as I know there is more then just one classification of it……..?

I thought the best thing to do would be to list the problems/ characteristics I have and see what you experts think? Maybe I’m just grabbing at straws.

Thanks Beckie

Hullax valgus feet from birth. Both dislocate easily.
Idiopathic scoliosis. (present in both parents families, my mothers is severe at 87°)
keloid scaring?, scars wide thin and white/ numerous stretch marks, 5 x café au lait patches, bruise easily, achy joints.  calcium build up in neck vertebrae
Both my mother and I have small fatty growths on arms and legs.
2001- Ewings sarcoma of the spine L3, L4. Surgery/Chemo/radio
Continuing chronic pain in lumber region and neck.
2006- diagnoses of Wolfe Parkinson white syndrome & vasovagal syncope  
2007- dual chamber pace maker implanted
2008- left iliac fossa pain- concluded to be unexplained IBS.
and a few other things i have seen like the thin lips/nose and small lower jaw
Any help much appreciated!!!!

[beckie1308]

Thanks a lot for your reply. I visited my GP last week and he felt strongly that EDS could be a possibility. He took a look at my eyes, arm span, flexibility and such like. He explained as well as photophobia I also have slightly blue sclera, my arm span is around 2 cm longer than my height, he found I also have a number of hypermobile joints that I didn't realise I had.
He has referred me to a Rheumatologist who I’m hoping will shed some more light on what’s going on with me.
Thanks again for your help
Kind regards.

[Lisa Kessler, MS, CGC]

Given the concerns that you have raised about your features, you both may benefit from seeing a geneticist regarding EDS.    A geneticist can do a thorough exam, and review family history information in order to make a diagnosis of EDS.

As you know, Ehler-Danlos syndrome (EDS) is a group of disorders that affect the connective tissue.  There are many different types of EDS including Hypermobility, Classical, and Vascular.  They are each distinct conditions, but there can be some overlap with features such as stretchy skin, hypermobile joints, bruising, and trouble with wound healing.  Most types of EDS run in families in an autosomal dominant way.  If a parent has EDS, there is a 50% chance of passing the condition on with each child she has.  Best wishes to you.