I filled out my 31 page packet & mailed it in! I will hopefully be put on the waiting list to go see the doctors there that actually know how to help with EDS!
I tried seeing a cardiologist here, they made the appt & called to confirm, when I got there they refused to see me! I have never had that happen to me before!
I am now seeing a:
rheumatologist: Gives me most of my medications, helps with referrals, responds to e-mails, diagnosed my Secondary Raynaud's (he's a keeper)
physiatrist: Ordered my bone scan, said she will be my rehab coordinator, asked me if I had EDS without me even telling her, sent me for PT, diagnosed mt shoulder subluxation & possible labrum tear in my hip, explains everything to me! (definitely a keeper)
neurologist PA: Gave me muscle relaxers after agreeing to do a cervical MRI, that's about all he did, other than that I really, really do not like him & I am not going back (looking for a new one)
Physical therapist: LOVE HER! She takes it slow, knows about EDS & chiari, does mostly ice, massage & isometrics (which has been the best type of exercise for me & I am amazed nobody showed me them before) (another keeper)
Psychiatrist: Gave me meds & listens to me, not much else, except helped with my anxiety (not sure if I will stick with him)
Neuropsychologist: Did testing & diagnosed "mood disorder due to a chronic illness" which Neuro PA interpreted as "anxiety is your entire problem, seek therapy, take magnesium & exercise" because he is an idiot! (only saw her once)
Cardiologist: Did nothing! (looking for yet another one, 2 down so far)
PCP: Says she will help with whatever I need, then sides with cardiologist, claims vertigo is my underlying problem, tells me buy my braces OTC and they will make me worse. (looking for a new pcp with no luck)
Chiropractor: Very helpful, gentle, listens, I just can't afford to see her often :( because insurance doesn't cover it. Helped SO much with my TMJ disorder!
Oral surgeon: May have to go back, I know I have a perforation from a past arthrogram
Orthopedic surgeon: Knowledgeable, but says it's too risky to do knee surgery because of EDS & my allergies. but my MPF is torn & my patella dislocates... this is still my worst joint!
Allergist: I am now on 2 allergy meds, he is not familiar enough with Mast Cell Activation Disorder, did a PF test which was fine, like always! He is very nice, but needs to do some CEs on MCAD since he is also an immunologist as well!
I think that's most of them!
E-bates
Wednesday, October 28, 2015
Non-clinical genetic testing
This is mentioned VERY often on boards & facebook groups & I am getting REALLY tired of all this false hope, misinformation, lack of information, etc...
People that have never even taken a genetic class, but they think they know what they are talking about!!! I even had a geneticist here locally in our group say I was wrong, but her explanation made NO sense!!! I question what she really does!!!
Here is what I know!!! I have researched, I have taken college classes.... I am very interested in the genetic aspect of EDS!!!
COL5A1 is the gene that contains variants responsible for Classical EDS (Collagen type 5)
It contains 11,072 snps
23&me tests 118 of those
COL5A2 is also responsible for Classical EDS
It contains 5,321 snps
23&me does 32 of those
Do you see how much information your missing?????
Sites like livewello allow any user to make a template, just because the snp is in the gene it does not mean it causes EDS!!!
COL3A1 is responsible for Vascular EDS (Collagen type 3)
It contains 1,831 snps
23&me tests 42 snps
Again, you are missing 1,789 snps!!! There are 320+ mutations that cause VEDS!!!
TNXB can cause HEDS, there are 1,377 snps, 23&me does 91 of them
PLOD1 can cause type VI there are 2,059 snps & 23&me does 18 snps
FKBP14 has 587 snps, 23&me does 5 snps
I wish the general public had a chance to have genetic testing, actual clinical genetic testing. I wish people with EDS or suspected EDS or the MANY people misdiagnosed for years could get CLINICAL genetic testing! We are all trying to get whatever information we can so we can help the process of getting a diagnosis. The problem is, with non-clinical tests, the information is just NOT THERE!
If you look on the website Chronic Pain Partners, there is a recent video about genetic testing by one of the geneticists at UW Seattle. Listen to it! It helps make sense of it all!
People spends hours doing these reports & believing they see the variant in their genes. Everybody has less common alleles & the majority of them are completely benign! It is much less common, out of our 20,000+ genes to have an allele that causes a condition or disease. But it just takes 1 among those thousands to cause it, it takes research to know which one it is!
People that have never even taken a genetic class, but they think they know what they are talking about!!! I even had a geneticist here locally in our group say I was wrong, but her explanation made NO sense!!! I question what she really does!!!
Here is what I know!!! I have researched, I have taken college classes.... I am very interested in the genetic aspect of EDS!!!
COL5A1 is the gene that contains variants responsible for Classical EDS (Collagen type 5)
It contains 11,072 snps
23&me tests 118 of those
COL5A2 is also responsible for Classical EDS
It contains 5,321 snps
23&me does 32 of those
Do you see how much information your missing?????
Sites like livewello allow any user to make a template, just because the snp is in the gene it does not mean it causes EDS!!!
COL3A1 is responsible for Vascular EDS (Collagen type 3)
It contains 1,831 snps
23&me tests 42 snps
Again, you are missing 1,789 snps!!! There are 320+ mutations that cause VEDS!!!
TNXB can cause HEDS, there are 1,377 snps, 23&me does 91 of them
PLOD1 can cause type VI there are 2,059 snps & 23&me does 18 snps
FKBP14 has 587 snps, 23&me does 5 snps
I wish the general public had a chance to have genetic testing, actual clinical genetic testing. I wish people with EDS or suspected EDS or the MANY people misdiagnosed for years could get CLINICAL genetic testing! We are all trying to get whatever information we can so we can help the process of getting a diagnosis. The problem is, with non-clinical tests, the information is just NOT THERE!
If you look on the website Chronic Pain Partners, there is a recent video about genetic testing by one of the geneticists at UW Seattle. Listen to it! It helps make sense of it all!
People spends hours doing these reports & believing they see the variant in their genes. Everybody has less common alleles & the majority of them are completely benign! It is much less common, out of our 20,000+ genes to have an allele that causes a condition or disease. But it just takes 1 among those thousands to cause it, it takes research to know which one it is!
After all these years!!!
I had my genetic appointment with the geneticist at UW Seattle. they have connective tissues geneticists, not just general ones like the gentleman I saw a decade ago.
I was diagnosed with type III EDS, the hypermobility type!
He said my skin was not translucent enough to be considered for vascular EDS, so he would not perform the genetic test for it. My skin was not stretchy enough to suspect classical type EDS. I brought up a paper he had written about EDS. It stated that he recommended testing for VEDS if you have 2+ minor criteria, but obviously he does not follow what he wrote.
He looked at my fingers, inside my mouth, made me bend over & touch my hands flat on the floor, hyperextend my knee & elbows. He tried to sublux (partially dislocate) my wrists which do not sublux, but are now still hurting 2 weeks later. Both of my shoulders are permanently subluxed, according to my physiatrist. I love her! He listened to my heart, went over family history & all of my half-siblings diagnoses. Asked about my mother, whom we highly suspect to have EDS.
This really doesn't change my health plan, which is basically PT. He said swimming & bicycling which I know for a fact is not something I can consistently do.
I also went to see the neurosurgeon. I have a cerebellar tonsillar ectopia (herniation/descent) whatever you want to call it! They refuse to call it Chiari malformation because it only extends 3.8mm on a supine MRI. He did not even discuss an upright MRI or a cine MRI & he had to look up on his computer how to even measure & what measurement was considered Chiari. According to him, in his ignorance, it was 5mm and more.
I am still trying to find someone to take it seriously & realize just because my "migraines" are subsided doesn't mean I don't have a long list of symptoms still present! Chiari is more common in people with EDS. I have been researching through organizations like CSF & EDNF to learn more about it. He said I don't have a syrinx so no conern, yet I have NEVER has a thoracic MRI so how would he even know?!?!?!?
Nobody wants to find out what is wrong or ever make a damn diagnosis!!! All they want to do is mask symptoms & throw medication at me!!! I am having vision troubles & nobody ever bothers to send me to the only neuro-ophthalmologist here!!! I had to drive 6 hours each way to see that neurosurgeon & it was a complete waste of time! Seattle is the area that has an upright MRI, we don't have one around here! Yet again I missed my chance!!!
I was diagnosed with type III EDS, the hypermobility type!
He said my skin was not translucent enough to be considered for vascular EDS, so he would not perform the genetic test for it. My skin was not stretchy enough to suspect classical type EDS. I brought up a paper he had written about EDS. It stated that he recommended testing for VEDS if you have 2+ minor criteria, but obviously he does not follow what he wrote.
He looked at my fingers, inside my mouth, made me bend over & touch my hands flat on the floor, hyperextend my knee & elbows. He tried to sublux (partially dislocate) my wrists which do not sublux, but are now still hurting 2 weeks later. Both of my shoulders are permanently subluxed, according to my physiatrist. I love her! He listened to my heart, went over family history & all of my half-siblings diagnoses. Asked about my mother, whom we highly suspect to have EDS.
This really doesn't change my health plan, which is basically PT. He said swimming & bicycling which I know for a fact is not something I can consistently do.
I also went to see the neurosurgeon. I have a cerebellar tonsillar ectopia (herniation/descent) whatever you want to call it! They refuse to call it Chiari malformation because it only extends 3.8mm on a supine MRI. He did not even discuss an upright MRI or a cine MRI & he had to look up on his computer how to even measure & what measurement was considered Chiari. According to him, in his ignorance, it was 5mm and more.
I am still trying to find someone to take it seriously & realize just because my "migraines" are subsided doesn't mean I don't have a long list of symptoms still present! Chiari is more common in people with EDS. I have been researching through organizations like CSF & EDNF to learn more about it. He said I don't have a syrinx so no conern, yet I have NEVER has a thoracic MRI so how would he even know?!?!?!?
Nobody wants to find out what is wrong or ever make a damn diagnosis!!! All they want to do is mask symptoms & throw medication at me!!! I am having vision troubles & nobody ever bothers to send me to the only neuro-ophthalmologist here!!! I had to drive 6 hours each way to see that neurosurgeon & it was a complete waste of time! Seattle is the area that has an upright MRI, we don't have one around here! Yet again I missed my chance!!!
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