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Ehlers Danlos Syndrome: Can't get diagnosed
Somebody please help me. I think that I have been dealing with ehlers danlos syndrome most of my life. I am currently seeing a plethora of specialists none of whom look at the whole me. I am frustrated to the point of tears. It is now about 3 am. Sleeplessness and restless leg syndrome are just two of my symptoms. Add chronic migrating joint pain, GI and urinary problems, and anxiety issues.
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We live near Portland , Oregon , and here we have Oregon Health Sciences University . I take my daughter to a EDS pain psychologist there , and they do have a few doctors trained in dealing with EDS . The problem is , they have too many clients and not enough doctors . We've been on a waiting list for a very long time . That's why we are considering the Mayo Clinic .
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1 ReactionThere is one doctor in Denver. I believe she’s in the Cherry Creek area in Denver area. Her name is Dr. Jill Schofield. She does not take insurance. She is cash only she does deal with EDS and a whole bunch of other stuff. She’s a good doctor if you have the money she has the time and she’s in Cherry Creek in her. Her name is Jill Schofield and she’s a really good doctor. She first diagnosed me with it and then I want to when she was at UCHealth and then they dismissed what she said about 10 years ago uchcoming back to what day but she is saying.
There’s one doctor that I am saying and then orthopedic Of The Rockies said I probably had It take me serious and dirt out of UCHealth and then I saw a doctor at St. Luke’s up in the Denver area. That is really good too Sequence of MD for Genetics.
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1 ReactionI went to the male clinic about 12 years ago maybe 13 years ago in Phoenix Arizona and they diagnosed me with pots and low blood count and they missed a EDS for me so I wasn’t very impressed with them. I guess now they said I had low blood count, white blood cells, and I had pot, but they never thought of EDS at that time they did say I did have stuff wrong with my heart like a PFO and I had a micro valve prolapse and I had the very irregular heartbeat but maybe because of that they were thinking of EDS I don’t know, but it was OK but it was it What I thought the clinic was. I hope you have better luck at the Mayo Clinic or if you want, you could try Jill Scott field up here number.
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1 ReactionThank you ! She has irregular heartbeat also from time to time . Who is Jill Scott ?
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1 ReactionDr. Jill dr. Jill Scofield MDshe’s in Cherry Creek. It’s right it’s in the Denver area. It’s like a neighborhood in the Denver area. She was the one that diagnosed me with syndrome, blood clotting disorder and with a low white blood count to what male Clinic did and the male clinic confirmed that after the white blood count and she also deal she she’s a really good doctor. You can Google her Dr. Jill Schofield G deals with EDS she deals with autoimmune disorders and her specialty is EDS and EDS she also does Cardiologist stuff too I also have gastroparesis and a couple years ago they put in a pacemaker because my heart was doing pauses. She’s a really good doctor and a lot of people that have gone to her and her personal doctors office gotten good results. I was getting good results, but then UCHealth let her go or she left on her own because she didn’t like their politics. Wanted the two.
I just did genetic testing. Have you ever thought about doing genetic testing for your daughter? I am in right now. Also doing a rare Diagnosis diagnosis program and I’m just I hope the best prayers for you. I hope your daughter doesn’t have hyper hyperinflated lungs cause I just found out I have hyper inflated lungs too, but Jill Schofield if you she doesn’t take insurance, but she’s a cash pay only if you can get her and see her she’s pretty good and she can pinpoint a lot of rare stuff.
Thank you , but we don't live near there . We're still hoping for some doc in Oregon , otherwise the Mayo Clinic in Minnesota .
In 2024 I received an Invitae - Connective Tissue Disorders test
Genetic Counseling Summary
One or more variants of uncertain significance (VUS) were identified:
- COL1A2 gene, c.2083G>A (p.Glu695Lys)
- DCHS1 gene, c.1421G>A (p.Arg474His)
One or more variants of uncertain significance (VUS) were identified:
His features could be consistent with Ehlers-Danlos Syndrome, hypermobility type (hEDS), which does not currently have an identified genetic cause but is observed to be a dominant trait in families with variability. hEDS is a diagnosis made based on physical examination and a review of medical history.
Individuals may pursue an in-person physical exam with a specialist familiar with hEDS (clinical geneticist, rheumatologist, or physical therapist, among others) to determine if they meet the criteria for a clinical diagnosis of hEDS. Additional resources are enclosed at the end of this document.
I was provided with a Diagnostic Critria for Hypermobile Ehlers-Danlos Syndrome, hypermobility type (hEDS) for doctors across all disciplines to be able to diagnose EDS
I have a number of the critria.
I am attaching a pdf file Diagnostic Critria for Hypermobile Ehlers-Danlos Syndrome, hypermobility type (hEDS) to this post.
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I discussed my possible hypermobility type (hEDS) with 2 rheumatologists. Neither gave much creedence to Ehlers-Danlos Syndrome, hypermobility type (hEDS).
I'm under the impression that to receive a hypermobility type (hEDS) diagnosis one would have to have an in person consultation with a geneticist who is trained in Ehlers-Danlos Syndrome, hypermobility type (hEDS). Also, there doesn't seem to be a protocol of treatment for either.