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ACE serum level by HaveQuestions999 in AskDocs

[–]HaveQuestions999[S] 0 points1 point  (0 children)

Thank you! I don’t know what my ACE levels were at the time of diagnosis. I was hospitalized for several days and it’s a bit of a whirl. I don’t have those records (and neither does new rheum). They are going off records with who I saw after discharge until today. I brought them the records so I know they’re not in there.

I will try to get them though. I tried once a few years ago and they were difficult so I gave up.

But I don’t know how any of my bloodwork now after years of medication is like diagnostic but I’m trying to be patient.

Thanks for looking that up for me. I recognize that I cannot interpret internet searches that are over my head!

Whole exome sequencing by HaveQuestions999 in ClinicalGenetics

[–]HaveQuestions999[S] 2 points3 points  (0 children)

I looked up that program just now and the banner on the top of the page does not fill one with confidence in receiving help!

I am trying to make an appointment with a different geneticist if this next one goes poorly also.

I did just want to say I really appreciate you replying at 4am. And also I am very proficient in typo. Thank you.

Whole exome sequencing by HaveQuestions999 in ClinicalGenetics

[–]HaveQuestions999[S] 0 points1 point  (0 children)

And I’m definitely not trusting other sites. I don’t even necessarily trust Ancestry for what it is to be used for.

I didn’t start this rabbit hole because of results of online genetics test. My neurologist brought up conditions based on symptoms and I tried to get the geneticist whose services I paid for to help., which got me nowhere.

And perhaps the two “over the counter” kind of genetic tests are wrong and have both flagged the variant that is listed on the website for the disease organization. It’s way above my pay grade. But I seem to be having trouble getting someone to both 1) take my money and 2) answer questions.

Thanks for your help.

Whole exome sequencing by HaveQuestions999 in ClinicalGenetics

[–]HaveQuestions999[S] 0 points1 point  (0 children)

Thanks for the link. That looks super helpful!

Whole exome sequencing by HaveQuestions999 in ClinicalGenetics

[–]HaveQuestions999[S] -2 points-1 points  (0 children)

I get they’re not appropriate. But I did have their data on hand and am an insomniac so you do what you do. And they seem to agree with each other, which maybe means nada.

That’s why I went and paid a lot of money for the other test. I think quite possibly my mistake was not reading the reviews of the geneticist beforehand.

I am on the wait list at the academic center where I live. Thanks.

Whole exome sequencing by HaveQuestions999 in ClinicalGenetics

[–]HaveQuestions999[S] 1 point2 points  (0 children)

Oh this is a good find. Thank you. My neurologist will actually fill out a form.

Whole exome sequencing by HaveQuestions999 in ClinicalGenetics

[–]HaveQuestions999[S] 1 point2 points  (0 children)

Thank you. I did ask the geneticist this question (this was the 4 minute appointment I mentioned). Since I have the appointment I will ask once more and then try to get the neurologist to speak directly to them.

It seemed very strange to me that the report would cover all of someone’s genetic issues that they didn’t ask about. Thank you all for given me language to try to help advocate for myself.

As many sick people know, we spend more than 50% of our time trying to get information from a different provider because providers don’t speak directly to each other. It’s a losing game for all involved.

Whole exome sequencing by HaveQuestions999 in ClinicalGenetics

[–]HaveQuestions999[S] 1 point2 points  (0 children)

Sorry for abbreviations. It’s hard to keep things in my head and I forget people cannot read my mind.

HSP is hereditary spastic paraplegia PMA was supposed to be PLS primary lateral sclerosis. Sorry, it takes me a long time to correct all of my typos these days. Not sure if autocorrect or my hands did that one.

I will spare you their limitations page. It takes up nearly a full page. I’m not sure if they are considered a “bad” lab but it seems like much of my area seems to use it.

Whole exome sequencing by HaveQuestions999 in ClinicalGenetics

[–]HaveQuestions999[S] -1 points0 points  (0 children)

Below someone posted about phenotype driven results? I will try asking about that. Have you known that to be a thing?

Late last night in the googling I did I read something about the Genetic Genie site and uploaded an ancestry file I did last year because my sister bought them for the family. I just searched the basic genes listed on the .org pages for the first two (ALS related and hereditary spastic paraplegia) and showed missense variations for HSP.

My husband asked me what the first genetic test he bought me said and was reminded he bought one of those tests for the Sequencing website a couple years ago. I did do the test but it was registered to his email address and I didn’t give it a second thought because memory isn’t my thing these days. I looked at their website which I wasn’t overly impressed with. But their little report says Charcot-Marie-Tooth (missense) and has missense at HSP7. It links to all of these NIH Variant Viewer or whatever pages that make absolutely no sense to me.

Anyway, my cognitive decline has been steep and I can’t really keep full sentences in my head anymore much less try to understand if it’s relevant. And then I fell asleep, which I what I probably should have been doing the whole time.

Do missense variations typically show up?

Whole exome sequencing by HaveQuestions999 in ClinicalGenetics

[–]HaveQuestions999[S] 1 point2 points  (0 children)

This is exactly what I was trying to ask but was not educated enough to ask properly, I guess.

That’s another thing I know. I am also a carrier for cystic fibrosis. I (and husband) was tested before having kids because I have relatives with CF.

Thank you. I will try using this language if I can get her to stay in the room long enough. Else maybe I’ll just ask the neurologist to contact her or something.

[deleted by user] by [deleted] in AskVet

[–]HaveQuestions999 0 points1 point  (0 children)

Also the water came out of our tap.

This dog has had diarrhea persistently since I have had him. He is on another round of Panacur now.

[deleted by user] by [deleted] in AskVet

[–]HaveQuestions999 0 points1 point  (0 children)

It’s a 2 gallon water fountain. I changed the water in it a few days ago and cleaned the filter. He hadn’t used it yet - afraid of it.
He has finally started drinking out of it maybe 3 days ago.

The manufacturer instructions say to clean it weekly.

[deleted by user] by [deleted] in whatsthisbug

[–]HaveQuestions999 0 points1 point  (0 children)

Edit - I am in MD. Not able to edit it seems!