Posted 30 May 2010 - 02:54 PM
I guess what I am wondering is what benefit is it to be diagnosed? Is there treatment? Is a skin biopsy required? If so, where do they do that? Who diagnoses this disorder? It seems to me that it would explain part of POTS in that the blood vessels are stretchy and don't constrict properly.
Any information would be appreciated!
Posted 31 May 2010 - 06:26 PM
I have even told her pediatrician I really felt she had some type of connective tissue disorder as it isn't normal for a kid that age to hurt all the time, but that is as far as it went. She agreed that there was likely "something", but until the symptmos manifested in a manner that could be diagnosed, she didn't know what to do the help.
She mostly likely thought you were referring to acquired connective tissue disease like lupus, rheumatoid arthritis, where you have to wait to see what the symptoms "turn into."
But if your daughter has a heritable connective tissue disorder like Ehlers Danlos her symptoms are manifesting in manner that can be diagnosed right now. And should be, as soon as possible.
There is no treatment and no cure for EDS. But because your daughter is relatively young she can start protecting her joints now and save herself a lot of pain and trouble when she gets older.
You need to see a geneticist to be diagnosed, preferably one who specializes in connective tissue disorders. Don't bother with a rheumatologist.
Most forms of Ehlers-Danlos Syndrome are diagnosed clinically, which means you don't need a biopsy or even a blood test.
It certainly sounds like she could have it what with the bruising and the hypermobility. Contrary to popular belief, you don't have to have stretchy skin.
Posted 31 May 2010 - 06:44 PM
I would recommend a couple of books for you to look at. One is reasonably priced and you can get it on Amazon.com by Dr. Brad Tinkle ~ Issues and Management of Hypermobility Syndrome/ Ehlers Danlos Hypermobile Type (or something like that). Dr. Tinkle is from Cincinnati Childrens Hospital and is this country's leading guy by all I can figure ~ on this topic. He is a Geneticist ~ and will also be the keynote Speaker at the Ehlers-Danlos National Foundations 25 year anniversary conference in Baltimore this summer. There website you can google -- it has a wealth of information too.l
From what you've shared I would think you could learn a lot from that book and there is another by Rosemary Keer and Rodney Graham The UKhas clinics for patients with this hypermobility syndrome & Ehlers Danlos Hypermobile Type. That book is written for physiotherapists and is very good as well ~ though it was pricey for a small book ~ around 70 dollars I believe. But there are other more serious forms of EDS than the Hypermobile Type or Type 3 ~ this needs to be checked out. Symptoms seem to overlap in some of these 6 or so different types of EDS.
In it is discussed the issues you raise that you are dealing with in your daughter. It can be hard to do your own detective work as the number of knowledgeable clinicians in the USA seems to be about the same as the POTS story ~ they are few and far between. AND with the studies I found on line by Dr. Bravo ~ now practicing in Chile ~ up to 75% of HMS patients deal with dysautonomia symptoms. This is where I'm at ~ I got the EDS-HM diagnosis ~ now nailing down the POTS part of the story....yet to be formally diagnosed and looking for a good clinician in California currently - I'm in my 50's
The person to diagnose and evaluate your daughter from what I've read (& what I did myself) is a Geneticist.Trying to find a Geneticist that is knowledgeable about EDS is challenging as well. But it is this group that can confirm a diagnosis for you ~ which might be a valuable bit of information as she grows into an adult. I believe Dr. Tinkle takes new patients ~ I went to UCSF in California ~ and while they have knowledge of this -- often if you are like me you spend time doing your own research and find yourself in a position to be the one with the most current studies and information - which at times can be uncomfortable for both the doc and the patient.
There is no cure that I know of. However there can be a great sense of relief to know what you are dealing with and that it can be dealt with. Most often with a team approach ~ Physical and Occupational therapy, pain management, rheumatologists, pediatricians, orthopedic surgeons, counselors ~ I mean there is a gamut of people on the teams over in the UK at their clinics ~ and I have created my own for myself to deal with this. It's hasn't been easy ~ and you do endure the unpleasant visits where doctors think you are crazy or some such thing.....all the better to get a solid diagnosis.
Also it's no small thing that EDS has several kinds ~ some of the more severe types really do come with issues that can be life threatening. Where my type is not one where there is some life threatening issues -there is the vascular type that does need to be monitored throughout a lifetime by competent EDS doctors. This isn't to alarm you at all ~ but to encourage you to get your self well informed so you can get the best possible care for your daughter.
You are to be applauded in bringing to your pediatricians atention the symptoms and your intuition that a collagen defect may be the root cause ~ I would agree with you. I wouldn't push this under the rug ~ but rather get informed through books and websites such as the EDNF.org one and I've also learned from the Hypermobility Association website that is based in the UK......Once you have your information then you can push forward in getting appropriate diagnosis and a treatment plan....... Your first stop may be to get a diagnosis from a Medical Geneticist ~ whom your pediatrician may refer you to ~ they shouldn't hesitate -- as there are plenty of symptoms that have manifested ~ plenty indeed! The one to pull it all together would be a specialist beyond your family pediatrician imho....
Posted 31 May 2010 - 09:33 PM
Maybe I should email her POTS dr. and ask what he thinks?? I am sure he would do the referral, and I don't think I even need a referral to get an appointment.
Two other things that has me thinking. Tonight she was just sitting on the bed next to me and her hip popped. Her shoulders creek, grind and pop all the time as do her knees. I thought I read that it was a sign of EDS somewhere (joint instability). Also, my mother had mitral valve prolapse and died very unexpectedly at the age of 56. They said the best thing they could figure out was that it was some type of heart thing such as an arrhythmia. That kind of freaks me out with this whole thing too.
Posted 01 June 2010 - 12:54 AM
Here's one link ~ for the joint hypermobility syndrome that Dr. Tinkle states is the very same thing as EDS-HM type ..... It's by Dr. Bravo from Chile....
The history of MVP and sudden early death in your family would also be a reason to rule in or out EDS in any of its types ~ the concern would be it being the vascular type in your relative ~ where the aorta may consist of part aneurysm in some folks ~ an echocardiogram can give the doctors measurements and such to declare no aneurysm or widening noted. They are followed by cardiologists ~ but as the others mentioned it is a Geneticist versed in EDS that's preferred. Any doctor that you have a good relationship with should be able to help you get the ball rolling for this.....it was actually my rheumatologist that suggested it for a diagnosis for myself and gave me articles to read ~ I agreed and went to Genetics for a confirmed diagnosis. It was confirmed but almost as a diagnosis of exclusion ~ meaning everything else possible was ruled out ~ that was a lot of testing -- and it seems like you've already been through a lot of those early hoops ~ so now it's time to nail down that diagnosis so you can all have some peace in understanding.....
Doctors visits are a pain and with a rarer condition quite literally they can be so distressing ~ but if you are armed with knowledge you should do fine. It's helpful to get a 3 ring binder and collect from every office and hospital ALL of your daughters test results. Everyone of them. Get consult doctor notes as well. Then seperate the info in the binder as to labs, xrays, mri's, consults, physical therapy notes, list of medications, current articles you collect........that way you have all the information in one handy book for transfer to and from your various appointments.
By all means run it by her POTS doctor! Just tonight I've read about 4 articles on how the joint hypermobility syndrome (again now being viewed as EDS-HM) and POTS occur together in as much as 80% of study subjects........ Other articles say 63 + %.......So yes there is a correlation that a POTS specialist might well know about. You could have that doctor refer you to a pediatric geneticist that is versed in EDS. Again not all that easy to find ~ but they are out there. In fact I believe that by going to the EDNF.org website you can read the names of the doctors that are presenting at the huge upcoming conference in Baltimore and maybe find one that way ~ The presenters are going to be holding a clinic at the Conference itself as well for people who have found it difficult to find a treating physician. By having your daughters POTS doctor review her EDS symptoms and your concerns and family history (which is SO important to geneticists and genetic counselors) ~ he or she will hopefully be able to direct you to which doctor geneticist to see and where.
A thorough history and physical exam (the Beighton Criteria and the revised Brighton Criteria) -- they measure everything lol.... a diagnosis should be able to be made. If then it's some of the more testable types of EDS are being viewed as likely ~ yes now there is a blood test ~ and a small skin sample for biopsy may be recommended. The collagen lab that tests for EDS is in Washington State at the university and they have genetic counselors that sometimes will talk to you if you have questions about an order from your doctor for a biopsy......There is no 'test' for the hypermobility type to be done in a lab.
Good luck to you :-)
The grinding and popping, the subluxing and or dislocating are commonplace .... as I'm sure you've read.
There are videos on utube from EDS programs and EDS patients ~ take with a grain of salt ~ but some were helpful for me to watch.