There are 6 different types of EDS (and several more subtypes within some of those I believe). The most common are Classic (Type 1 and 2) and Hypermobile (Type 3). Most are diagnosed with Hypermobile, which is diagnosed only by a clinicians evaluation, typically a geneticist familiar with connective tissue disorders. They have not identified the genes yet that are responsible for the Hypermobility Type. There are two widely accepted diagnosis tools called the Beighton Scale, and the Brighton Score, and they deal with the amount of flexibility in certain joints (fingers/thumb, elbows, knees ect). For Classic, there is a genetic blood test that can be run, but both geneticists advised that it only about 60% accurate, and they normally don't run it. You can google EDS, and wikipedia gives a basic description of the different types. Skin involvement is also considered (scarring history, texture and stretchiness of skin) too.
My daughter showed symptoms of EDS from birth....although I didn't know what it was. I told my old pediatrician about it several times. She was a very "floppy" baby, never really stiffening up when you picked her up like a normal baby. She could easily put her feet behind her ears past her 2nd birthday, when most babies start to stiffen up more. Her shoulder felt like it would "slip" out of joint a little when I would tug on her arm a little when she was a toddler. Her skin feels like an infant still, and she is almost 5...it is extremely supple and as the geneticist described it as very "doughy".
Honestly, I went to get her checked for EDS, because I had SO many people in the facebook Chiari groups I joined urging me to have her evaluated before we EVER considered a decompression surgery. They also suggested I push for a sleep study, which thankfully I did, and she had severe sleep apnea.
When you research EDS, remember vascular EDS is rare. If you are diagnosed with EDS, you need to be followed by a cardiologist familiar with connective tissue disorders, and have an echocardiogram to rule out some heart issues. Make sure they rule out POTS, as it also is common with EDS and Chiari.
Well, kind of a long story. My son was diagnosed with CM1 first at 17 but got so fed up with NR that he refused to go back. Fast forward about 2 years and I developed sudden horrendous head and neck pain followed by stumbling, increasing memory loss, blah, blah, blah. With a history of migraines since my teens, I knew they weren't the problem. Saw a dr when it didn't resolve within a miserable 48 hr period and managed to convince him it wasn't a normal headache for me and he ordered a CT. They found the CM1 and I convinced my son to go with me to a new dr, a NS. We were both evaluated and his was deemed non-surgical and I had cranioplasty, duraplasty, and laminectomy (C1) 4 months later. Meanwhile, my son's symptoms aside from the CM1 were worsening and I was home recovering and started doing research. He was having joint issues, among other things, and I was having a really difficult time recovering from the surgery and increasing health issues not related to the CM1. SO, after doing some more research, EDS kept popping up. Read up on it out of curiousity and realized that we both fit the symptoms. I found a geneticist that worked with EDS patients at the same university we had used for the new NS and new NR were were both seeing. Spoke with her office, were connected to a medical counselor and spoke to her at length over the phone before we could even schedule an appointment. After going over both of our personal medical histories, we were advised that we should see her. My son had his appointment first. She did an EXTENSIVE medical review that included his medical history and the prior 3 generations, a physical exam, reviewed current symptoms, and that was that. Diagnosed both of us in her office that day with HEDS. I had to schedule my own appt for a personal evaluation and official diagnoses about 5 months later, (appointments are difficult to get) and for recommendations such as bracing, meds, PT, etc. The difficulty recovering from the surgery a year prior at this point, were actually a symptom (skin issues, poor healing). There is current research into testing methods but at this point, it's usually a physical exam, the test you are referring to is a skin biopsy that is used to evaluate for VEDS or the vascular form of EDS. The physical exam/family history will decide whether or not they suspect HEDS (Hypermobile Ehlers-Danlos Syndrome) or VEDS (Vascular Ehlers-Danols Syndrome) and THAT will decide if they test or not. Make sense?
Insurance covered all but co-pay on his and I had lost ins due to not being able to return to work after surgery by the tiime my appt rolled around so I paid out of pocket for mine, appt was about $300.
We both have many EDS symptoms but it was more a matter of connecting the dots, so to speak. The Chiari, for us, was a symptom of the EDS, not the other way around. We just figured it out backwards. lol. We both have a lifetime history of issues, the majority of which, are EDS related. Nice that it finally makes sense at least.
I have EDS, Chiari, Endometriosis, multiple hernias. After my C section I even got endometritis and had to stay in hospital extra. I have also heard of several with PCOS.
It just started. Abby and Barb Salisbury is great to talk to about EDS. We also have a Chiari & EDS Group on this Forum. I am educated but not an EDS expert it can be very complicated. I think just as many Chiarians have POTS- Postural Orthostatic Tachycardia.
I have endometriosis as well and but only took 2 Lupron injections. I would get an instant headache and I just didn't feel like myself at all. I felt mean and didn't even like myself. I haven't been diagnosed with Ehlers Danlos but I have a very small mouth and the roof of my mouth is very high. I had teeth pulled as a child just to make room for my adult teeth.
Allie C said:
I fought Endometriosis from the time I was 11 until age 38 (last year) when I ended up having a full hysterectomy. I went through two very painful rounds of Lupron injections over the years and several surgeries to remove the growths. I was diagnosed w/ migraines 10 years ago, and just very recently w/ Chiari... during my last Lupron round (which puts you into artificial menopause to kill off the Endometriosis) I found myself becoming very emotional and angry (surprising even myself) - and now that I think about it, my headaches got worse during that time...
Anyone else notice a correlation of any kind or go through these injections and notice a tie-in to their Chiari?
Darla - has anyone thought to test you for Stickler's Syndrome? It is a genetic connective tissue disorder also, but it can contain some other factors involving facial features, hearing and eyes. They believe my 4 year old has EDS, but when my son was born (now 11 months), he had a small lower jaw and they suspected Pierre Robin Sequence. He did not have issues breathing or feeding, so we just followed up with a geneticist to see if anything else needed to be done. She said he had a very high palate (roof of the mouth), and a small lower jaw....but nothing that is causing him trouble...and normally the lower jaw catches up in size before their first birthday (which it has). With my 4 year old showing characteristics of EDS, she ran a genetic panel for Stickler's to rule it out for my son. It came back negative, but your comments made me think of it.
DXed with Endometriosis and had exploratory laporoscopy in 2000 when I was 20. I was told the scar tissue was so bad that I may not be able to concieve when I was ready. However, due to endo, I have very painful ovulations and can feel the moment I ovulate and we are blessed with 3 beautiful kiddos. After each pregnancy, I got more sick. I had no idea what was wrong and saw a battery of doctors. I am married to a physician as well and he has been very helpful in figuring my medical mystery out. I finally ended up in rheumatology and got a DX of HEDS in 2011. I saw a genetist as well who confirmed diagnosis (Dr. Pandya at VCU). In March 2012, I returned to rheum to talk about treatment options and I had lots of questions. Like why does every bone in my right foot feel broken but is normal on xray and MRI. And then, I started to lose mobility in my hands and feet. Rheumy began treating me for rheumatoid arthritis in hopes that i had seronegative RA (the kind that doesn't show up in labs). I started on 3 months of methotrexate and when that didn't work I quit methotrexate and began humira. The extreme pain slowly turned into numbness. When I started having cognitive issues and falling down in Feb of this year, a brain MRI found the chiari malformation. I see dr. Henderson on July 31st and will tell you the next part soon!
I have Chiari and endometriosis as well. Strange that so many of us have both of those. I also am questioning whether I should be checked for EDS. I have been having worsening joint pain and occasional joint swelling/redness for over a year now. I also have some skin issues, like bruising extremely easily and slow healing and scarring. I have no idea what these things could be related to. I dread finding out I have something else wrong with me.
It just started. Abby and Barb Salisbury is great to talk to about EDS. We also have a Chiari & EDS Group on this Forum. I am educated but not an EDS expert it can be very complicated. I think just as many Chiarians have POTS- Postural Orthostatic Tachycardia.