Myopathic EDS (mEDS) - Dr. Fleur Van Dijk | English (EN)

Thank you for this educational video! After 14 years of suffering, crying, and misdiagnosis’s I recently found out that I have mEDS through genetic testing. Unfortunately there is not many doctors in West Virginia that know about EDS in general. I think these videos are going to be very important for me when it comes to advocating for myself and helping doctors learn with me on how to treat my body. I did however think “oh course, I finally get a diagnosis and no one really understands how to treat it yet!” Physical therapy andchiropractic care has been helping me a little. I think out of everything, the fatigue is the absolute worse for me. Second would be the fear of mornings/ days where I feel so weak and unbalanced. It makes me scared of that becoming a constant reality all day. And third is the pain in the joints that bother me most.

There are 20 now - my cousin was diagnosed with it! My mom and I are getting tested as well!

She is the specialist that I am seeing! She is so lovely and caring! 💕

I tested positive for this-genetically, tested by a geneticist with Dayton Children's hospital. I already had a dx of EDS-HT. If I do have this version, there has been not a single doctor interested or knowledgable enough to evaluate and render a further diagnosis. My vision/eyes are most affected. Have had intermittent myopathic type (mild) symptoms throughout my adult life. Live in Virginia, was in Ohio at the time of this test and dx.

I have had two practitioners recently tell me they think I have EDS. In my research, this type seems most likely as I have very limited mobility in my right hip and when I lie on my back I can hardly lift my legs because my muscles connecting to my knees are so tight. It is difficult for me to sit upright without support. A recent Xray shows that many of my vertebrae are twisted about 45 degrees, though I don't have scoliosis. One chiropractor thinks it is because my psoas muscle is extremely tight and my core muscles are too underdeveloped for me to hold myself up properly. It is very difficult for me to move my right leg around for exercises when I am lying down because my hip pops constantly and I have very poor control over it. I am in a lot of pain very frequently and for long periods of time because my neck muscles are splinted and spasmed to get my vertebrae stable. I don't know how to get a diagnosis or support though. I don't have health insurance so I ordered a genetic test that says it tests for rare genetic diseases, as that will be a lot more cost-effective than finding a specialist, assuming it tests for whatever I have. With this being such a rare disease, is there an organization who would want to provide the resources for me to get tested to study it further? I am not sure where to look for support, but I really need to do something for my physical health as even walking is become exhausting to me and some days I am shaky climbing stairs, even though I look normal. I need to get a good plan for my health and I just don't know where to turn. In childhood, I could never do a single pull up, push up, or the monkey bars. Stretching hurts me as the strain tenses my muscles, and I can't bear weight on my wrists/elbows/shoulders, making most exercise and yoga impossible. I just don't know where to turn.

I keep seeing that symptoms improve with age. I'm 48. When does the improvement start?

Very interessting video and also amazing that fleur van dijk also works on a gentherapy for briddle bone disease which is caused by co1a1/col1a2 mutation.

Anyway to contact Dr Van Dojk. I have VUS on collagen 12 qnd diagnosed with EDS by physiatrist. I am In BC Canada.

I also found that I have an autosomal dominant variant of the COL12A1 gene indicating the possibility of mEDS. The results stated that the variant's significance was unknown at this time, but the the change resulted in substituting one basic and polar amino acid with another basic and polar amino acid; which should be less serious? Trying to figure out what I should do from here being that I seem to have many different EDS symptoms, but not the hypermobility and no major heart issues so far that I am aware of. Just don't want to miss something major that could have be helped before becoming a more serious issue and don't want to scare my significant other before I know if this a big deal or not.

Il est dommage de ne pouvoir profiter desqualitésde vos connaissances par le fait qu’il n’y ait pas de traduction en français 😢

How does myopathic EDS affect the heart?

Hmm, 20 I think. That would be me.

Hi! Given the rarity of information on mEDS, I thought I'd pass along my test results. I'm 57 with this test done earlier this year. Over the past five years I have become progressively weaker, and have trouble with stairs, putting dishes away in the cupboard, drying my hair, and lots of pain in various joints on various days. I can't attach documents here but I thought you might like to read the summary which I've copied and pasted. Thank you for your work. COL12A1 (COLLAGEN, TYPE XII, ALPHA-1 ) details below - Details and interpretation based on the best data available at the time of testing A variant of interest has been found in the COL12A1 gene exhibiting an autosomal dominant inheritance pattern. In OMIM the phenotypes for the observed inheritance pattern is Bethlem myopathy 2. The missense variant p.G1383D in COL12A1 (NM_004370.6) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. There is a moderate physicochemical difference between glycine and aspartic acid. The p.G1383D missense variant is predicted to be damaging by both SIFT and PolyPhen2. The nucleotide c.4148 in COL12A1 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. This variant was found in ClinVar (Variant 998840) with a classification of Uncertain Significance and a review status of (1 stars) criteria provided, single submitter. For these reasons, this variant has been classified as Uncertain Significance. The Phred Quality score is 648 (1 in 1,000,000 prob of FP). COL4A1 (COLLAGEN, TYPE IV, ALPHA-1) details below - Details and interpretation based on the best data available at the time of testing A variant of interest has been found in the COL4A1 gene exhibiting an autosomal dominant inheritance pattern. OMIM entry 120130 lists the Gene – phenotype relationships. The missense variant p.P1362L in COL4A1 (NM_001845.6) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.P1362L variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. There is a moderate physicochemical difference between proline and leucine. The gene COL4A1 has a low rate of benign missense variation as indicated by a high missense variants Z-Score of 2.46. The gene COL4A1 contains 94 pathogenic missense variants, indicating that missense variants are a common mechanism of disease in this gene. The p.P1362L missense variant is predicted to be damaging by both SIFT and PolyPhen2. The proline residue at codon 1362 of COL4A1 is conserved in all mammalian species. The nucleotide c.4085 in COL4A1 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance. The Phred Quality score is 352 (1 in 1,000,000 prob of FP).