Quantcast

Ehlers-Danlos Syndrome Online Support Group

Chiari, Ehlers and Tether Cord


#1

Chiari, Ehlers and Tether Cord

Posted by angieleigh02 on November 5, 2015 at 9:05pm

Anyone have all three conditions? If so which causes (or did cause) more problems?Also has anyone heard of having some of type 3 and some of type 4?I’m afraid my daughter may have this form. She was just diagnosed 2 weeks ago so not sure of type yet. But since its hereditary, I think my Dad may have had type 4 and we just didn’t know about it. He had his first triple bypass around 40 and died at 58. His father died at 41. However, someone told me that for my daughter to have it I would have to have it and most women die during childbirth. Therefore it’s very unlikely she has that type. I have 3 children all csection…any thoughts?

You need to be a member of Ehlers-Danlos Syndrome Online Support Group to add comments!

Join Ehlers-Danlos Syndrome Online Support Group

Tags: chiari, type 4, tether cord

Email me when people reply –
Follow

Replies

Zebra ·February 27, 2016 at 10:51am

Hi, not sure if same in USA but in UK they’ll not do DNA testing on me but suggested many times as have a lot of crossovers with minor and major criteria, so only if certain i have classical or others do they test. They dont test to rule out conditions, therefore I’ve taken part in the rare disease 100,000 Genome project, apparently my DNA is sequenced to got whole chain but not got any results. They’re tring to match my symptoms with my genes against other people with similar condition/symptoms, to hopefully find the EDS hypermobility gene for DNA testing in future generations and hopefully to check my son when time comes. Hopefully might be slightly helpful. If not can you tell me how much it would cost to have a DNA test done privately in USA. Thanks

Twiggy ·December 21, 2015 at 10:55pm

I was reading ur story and I hav been diagnosed with Eds, Chiari Malformation and tethered spinal cord. I hav had multiple surgeries for the Chiari, including 2dexompressions, one being a revision, a cranial cervical fusion to c5 and also tethered cord surgery. If u need to talk to me, I would be glad to talk to you regarding ur daughter. Now, I was diagnosed by a Geneticist in Baltimore, she’s very good. She’s does frequent phone consults with me. I’ve known a few other people I’ve met with all three of these conditions like mine, but the type of EDS is usually the Classical versus Hypermobility type, not Vascular but I’m no expert, just going by my condition and what I’ve researched about the three conditions being tied together.

Spammy ·November 8, 2015 at 10:02pm

I’ve read before that there can be cross over between types of EDS. Your daughter may have one with some characteristics of another type. My rheumatology has diagnosed me with type 3 hypermobility. Doc said I need to see a geneticist to confirm the diagnosis. Although from my understanding, there is no blood test for type 3. So I guess if it’s negative, it means type 3? Another rheumy told me I have a mild form of EDS, but I don’t know what that means. Perhaps you may have a mild form, too? Do you have hypermobile joints?

I don’t have any experience or knowledge about chiari and tethered cord. I hope someone else here could help with that.

Linda ·November 6, 2015 at 7:51am

I have Ehlers and a syrinx in my spine. Not chiari - but do have the syrinx. The Syrinx really does not bother me very much. I just have some neropathy and grip issues in my arms and hands. Vascualr Ehlers (type 4) is found by a gene 95% of the time. There are another 5% walking around with the diagnosis WITHOUT the gene. I am one of them. I have had an artery dissection and MULTIPLE tendon ruptures. My mother had a uterus rupture. I do not have the physical features of type 4. My kids also have more features of type 3. They have extreme hyper mobility and skin issues. I too recommend genetic testing but you have to have a doctor who will look at clinical finding as well. They are assuming that all my kids could have type 4 and I do too to be on the safe side. All symptoms must be treated as an emergency. That’s what’s important - how the doctor will treat you and how seriously they will handle your complaints. Also, any good geneticist will tell you they have only scratched the surface in understanding the genes. They very likely will discover other genes that may cause a different type. You and I sound like we have VERY similar issues.

Moderator

Michaela ·November 6, 2015 at 7:20am

Outnof those three conditions I only have EDS but maybe we can talk about your daughter’s situation. Fist of all, I wouldn’t jump to conclusions just yet. There is a genetic test for vascular type EDS (the number system was retired. Type three is called Hypermobility type and type four is Vascular. Some doctors are still a little behind the times and use the number system but it’s not correct and causes confusion regarding type 1 and 2 which are both Classic type.) Before you have any more “what if” thoughts, I would suggest that you find a geneticist and get her and yourself both tested. That would answer all of your questions.