This week was so informational, busy and chocked full of the most amazing people and appointments. I want to have a separate post about some of the great people we met for the first time but have known a long time because they deserve a special post all on their own. This post will be on the EDNF conference for EDS-
Dr. Rodney Grahame spoke about whether to change the name of Ehlers-Danlos Syndrome. It was very cute and made a lot of sense actually. Turns out Ehlers and Danlos did not discover the syndrome, someone prior did and din’t get credit. Also, the name is confusing. After going through his lecture, he determined that EDS:
So in summary, we should call it “EDS” 🙂
Dr. Levy talked about managing pain and addressing Opiates and how they are NOT the direction to go, even though most EDSers swear by them. He gave a vary valid point! He also said that EDSers should not strength train, but TONE train.
Patrick Anew, DPM – Foot & Ankle Issues in Collagen disorder- There are new techniques for surgeries. Some of the main points are do NOT fuse EVER (unless absolute resort) and do not use donor or your own tissue. Your cells will take over in both and become stretchy quickly.
James H Black III, MD, FACS – Vascular issues happen in EVERY type of EDS. In most cases and Echo is recommended at the age of ten and over and then every 5 years thereafter. If there is an abnormality, it is suggested for scans every 6 months. Also a total scan from head to toe on major arteries.
It was stated that there are no known cases of children under 10 with an enlarged aortic root dilation and other conditions Stryder has. When I made the point that my son was 5 and diagnosed with several of the conditions he mentioned, he said we may find out later he has Loeys-Dietz Syndrome of unknown origin or a gene not known yet. Although vascular issues are common in EDS, they are common in certain areas and after certain ages, all of which Stryder proved incorrectly.
Dr. Cliar Franocmano – There are new tests (WES) that are showing a lot about EDS.Dr. Francomano also mentioned that the cost of DNA sequencing has been cut from $1 billion to $10,000 per genome. NIH had 3 sequencing centers (Mendel project). There is also a family foundation funding 50 exomes with DNA samples (We just got our results this week, and have an appointment Friday for interpretation and next steps.) She spoke here about Dr. Schvink in Los Angeles and CSF leaks. CSF leaks can manifest as a headache with a rapid leak of fluid from the ear or nose. Classical testing is now at 50% accuracy, but when you take the super stretchy skinned people and test them, it’s almost 100%. New classification may be underway. Mayo Clinic: POTS–a heterogeneous and multifarious disorder. Do people with BJHS and EDS have reduced proprioception. Found that they do have decreased position sense in the lower extremities, however, the evidence was not as good for upper extremities. Dermal ultrastructure in low Beighton Score members of 17 families with EDSIII. Changes in collagen were found in the low Beighton score family members. Called “non-hypermobile, hypermobile EDS.”
Richard Barnum, MD – Psychiatrists are diagnosing incorrectly when it is not a psychiatric problem.
EDS is not rare, it’s rarely diagnosed – Dr. Heidi Collins said maybe as many as 1/50 per some (unk) sources now and Dr. Henderson has been tossing out 10% of population lately per several – Outgoing Board Chair Elliot C. also said the same – it’s much more “normal’ than the doctors think.
A holistic approach aimed at healing the gut and improving nutrition is one of the best approaches along with proper careful activity and PT.
Adequate salt intake & hydrating with electrolytes was encouraged many times! Someone stated that you cannot overdose on salt-keep your BP low and eat away.
Other resources as I find them:
There are slide show PDF’s at the EDNF site