3 ms·

I realise this must be hugely frustrating for you. The folks on here are mostly genuine in their attempt to help, even if they seem misguided due to lack of con

I realise this must be hugely frustrating for you. The folks on here are mostly genuine in their attempt to help, even if they seem misguided due to lack of context. If you could find the time and space to be patient with them i'm confident that you may learn something of value.

FollowingTheDao 4y ago
I admit, this is a rant, but because I am tired and frustrated not only for myself, but for all the people I know and support who are living with chrnoic illnesses. I am not mad at anyone personally. > The folks on here are mostly genuine in their attempt to help, Are they? You know what helping people looks like? It has nothing to do with words. All I hear are words all day. Me: "Can you help me, I need housing?" Everyone: "Have you looked on Craigslist?" Me: Can you help me? I am sick and cannot think straight. Everyone: Have you tried searching for a geneticist? I am the one who is ill and I am supposed to do all the work? Help is "Hey, I am a geneticist, call this person and ask, or call this person, or call me." Learn something of value? I am done with learning. I fricking taught myself genetics and neurological biology, I have managed to at least get my self well enough to get off of all my psychiatric medications except for klonopin as needed. I taught myself nutritional genomics and lowered my cholesterol through diet alone, I discovered why EMFs give me insomnia, mania, and palpitations. So if anyone here is a geneticist and wants to see a real European genetic freak let me know. Here are some hints; NOS1AP, GCH1, PNP, FASD1, FADS2, CPT1A, BTD, SLC18A1, SLC18A2, ERAP1, FUT2 (non-secretor), NCAN, NRXN1, and ... I was in one genetic study and they found I was heterozygous for this: GALC c.1685T>C (p.Ile562Thr) I have the document from INVITAE! I demanded to talk to a genetic counselor. They said it was NOTHING! I showed the geneticists this: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5994525/ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5994525/ The GALC enzyme activity of him was low, and the GALC gene analysis revealed compound heterozygous pathogenic mutations of c.1901T>C and c.1901delT. And they STILL would not test my enzyme activity even when I have episodic spastic paraplegia so bad they thought I had MS! They genetic counselor did not even know what the enzyme did! I mean what more do I have to do? ADDING: I mean what is the change that I am a FUT2 non-secretor (Galactoside alpha-(1,2)-fucosyltransferase 2) and have this GALC (Galactocerebrosidase) polymorphism? They both have to do with galactosides!
- tpmoney 4y ago
  Having any chronic condition, especially one that's not a "normal" condition with a treatment script (like say Diabetes), causes one to discover really fast that most health advice is useless at best, most doctors are maybe only 10% better than that and you will have to do far more work than you ever thought in keeping yourself alive. Most people will be more concerned with the idea that you might be faking something and getting away with it than actually trying to solve the issues at hand. I'm sorry to find another soul going through it, and I have nothing more to offer than condolences and wishes of good luck in finding a doctor that will actually listen and stick around.

FollowingTheDao 4y ago

I admit, this is a rant, but because I am tired and frustrated not only for myself, but for all the people I know and support who are living with chrnoic illnesses. I am not mad at anyone personally. > The folks on here are mostly genuine in their attempt to help, Are they? You know what helping people looks like? It has nothing to do with words. All I hear are words all day. Me: "Can you help me, I need housing?" Everyone: "Have you looked on Craigslist?" Me: Can you help me? I am sick and cannot think straight. Everyone: Have you tried searching for a geneticist? I am the one who is ill and I am supposed to do all the work? Help is "Hey, I am a geneticist, call this person and ask, or call this person, or call me." Learn something of value? I am done with learning. I fricking taught myself genetics and neurological biology, I have managed to at least get my self well enough to get off of all my psychiatric medications except for klonopin as needed. I taught myself nutritional genomics and lowered my cholesterol through diet alone, I discovered why EMFs give me insomnia, mania, and palpitations. So if anyone here is a geneticist and wants to see a real European genetic freak let me know. Here are some hints; NOS1AP, GCH1, PNP, FASD1, FADS2, CPT1A, BTD, SLC18A1, SLC18A2, ERAP1, FUT2 (non-secretor), NCAN, NRXN1, and ... I was in one genetic study and they found I was heterozygous for this: GALC c.1685T>C (p.Ile562Thr) I have the document from INVITAE! I demanded to talk to a genetic counselor. They said it was NOTHING! I showed the geneticists this: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5994525/ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5994525/ The GALC enzyme activity of him was low, and the GALC gene analysis revealed compound heterozygous pathogenic mutations of c.1901T>C and c.1901delT. And they STILL would not test my enzyme activity even when I have episodic spastic paraplegia so bad they thought I had MS! They genetic counselor did not even know what the enzyme did! I mean what more do I have to do? ADDING: I mean what is the change that I am a FUT2 non-secretor (Galactoside alpha-(1,2)-fucosyltransferase 2) and have this GALC (Galactocerebrosidase) polymorphism? They both have to do with galactosides!

tpmoney 4y ago
Having any chronic condition, especially one that's not a "normal" condition with a treatment script (like say Diabetes), causes one to discover really fast that most health advice is useless at best, most doctors are maybe only 10% better than that and you will have to do far more work than you ever thought in keeping yourself alive. Most people will be more concerned with the idea that you might be faking something and getting away with it than actually trying to solve the issues at hand. I'm sorry to find another soul going through it, and I have nothing more to offer than condolences and wishes of good luck in finding a doctor that will actually listen and stick around.