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scrabbleinjury71 karma

How do you handle the influx of unwanted advice and judgment that often comes with invisible/undiagnosed illnesses?

Cade_Foster_11767 karma

If it is a person that I know well enough (my MIL for example), I just say I don't really want to talk about it thank you. She means well but sometimes goes through periods where she's like 'have you tried X obvious thing?'

If someone I don't know makes snide or just clueless comments (this happens all the time, especially like in elevators. Are we just awkward as fuck in elevators as a species??) I might be snippy back. One I get a lot is I'm going somewhere on my scooter and someone says "I need to get me one of those!" Now I know they're just being awkward but if I want to make them more aware of what they just said I say "One of what, a neurological disorder?"

When I am not having voice issues I definitely tell people off a lot, especially related to taking parking spaces. Because if I park right in front of somewhere, I may not need the scooter BECAUSE IT IS SO CLOSE!

One annoying thing is that people go from being fine talking to you when you're standing to ignoring you or treating you like you have a mental disorder just because you have a scooter/wheelchair.

kitzunenotsuki3 karma

I have a disability as well and I'm confused as to your reaction about "I need to get me one of those!" People say that a lot about my cane because it looks interesting. I don't take offense to it, they are just trying to make conversation like it's a nice shirt.

Cade_Foster_1171 karma

I don’t try to be mean just make them aware that they’re basically saying like oh I’m tired I need a scooter which is kind of insensitive to the person who really needs it and wishes to god they didn’t.

StereoTypo31 karma

What has been the biggest change in your life as a result of your illness?

Do you have any symptoms leading up to losing your voice or does it happen unpredictably?

Strangely your case reminds me of an illness suffered by the biologist and sci-fi author Peter Watts, who experienced bouts of extreme muscle weakness without any apparent cause or diagnosis. Maybe you could try contacting him about his experience?

Cade_Foster_11753 karma

Aside from just sheer panic of like wtf is happening to me? The biggest change is having to go from being very independent to not being too proud or vain to ask for help. And to adjust my expectations for the rest of my life, career-wise, travel-wise etc.

The voice thing is some major bullshit. I definitely think stress plays a huge role (I just had a second baby and been having some stress with my mother as well). That's part of why they think it is autoimmune, is that it has these flare-ups.

Interesting, I will look him up thank you! For me it is more just sheer pain with repeated activity (walking, talking, even can no longer pipette for example so I have to do only bioinformatics).

barking-chicken6 karma

Aside from just sheer panic of like wtf is happening to me?

My chronic illness is not quite as extensive as yours is, but this was one of the biggest issues I had to face after getting my autoimmune diagnosis. The feeling that you can't control what's happening to your body and you know its bad and just like everything else aging only makes it worse. The best I can do now is try to mitigate the damage, but sometimes I still just want to scream to the ceiling that its not FAIR and I just want to QUIT and live a normal life of not having to think about the things I have to consider just to get through my fucking day. Its not a productive feeling, but its there.

Cade_Foster_1173 karma

I feel you. It’s hard to break the thought spiral sometimes especially on bad days. Stay strong!

Random-Miser-25 karma

Uhhh sounds like Lyme disease. Any competent doctor should had repeatedly tested for Lyme the second they heard those symptoms, typically about 10 or so independent tests as the disease can be difficult to detect and gives a lot of false negatives when tested for. But symptom wise sounds like Lyme is almost certainly the problem, and if your doctors didn't test very thoroughly for that they are outright incompetent.

Cade_Foster_11722 karma

So they did test for it many years ago. Not ten times but they did do it. Also I have had many nerve conduction studies and they were all normal. I was just looking at the symptoms again right now and they don't seem to be what I have. Can't hurt to test again I suppose.

Cade_Foster_11712 karma

That is interesting, I didn't know he had that issue. I have been to the ENT and they have video of my vocal chords doing their thing and they claim there was nothing abnormal there. I think it is really the nerves in the area that are the issue.

Batou20345 karma

Maybe check in with his surgeon anyway Dr. Gerald Berke at UCLA. http://blog.dilbert.com/2012/07/17/larry-pages-voice-problem/

Cade_Foster_1172 karma

Thank you for the suggestion!

Batou20342 karma

Good luck

Cade_Foster_1173 karma

Many thanks

cloudunknowing2 karma

Cade_Foster_1172 karma

Interesting. I had my HPV vaccines in undergrad so like 2004 ish.

arcosapphire10 karma

Given your suspicions that it could be due to a mutation I your genome, did you have any concerns or worries that you'd pass this on to your children? Was that a consideration when deciding whether to have children?

Cade_Foster_1175 karma

Someone asked a similar thing and my answer was definitely yes it crossed my mind for sure. But literally no one in my family has anything remotely like this. So I believe I was the victim of a fluke shitty gene x environment interaction. Plus at least I have boys because I was worried that girls have more autoimmune issues on the whole. But if it were a known disease with a family history, I would have been way more concerned.

spoopy__pants8 karma

Congrats on all you've accomplished while going through this!

What's the worst part about all this? The pain, not knowing what's wrong, something else?

Is there anything that's provided you with some relief or partial function back to your legs?

When you ran the DNA tests, even though you didn't find out what was causing this, did you find anything else surprising that you weren't expecting?

I hope you're doing well and that this flare-up passes soon.

Cade_Foster_11717 karma

Not knowing what is happening to you and why is terrifying. I don't wish for a terminal illness or anything like that but just to be able to put a name to what I have would be a load off my mind. People ask what I have and I have to say autoimmune small fiber neuropathy but that is not a diagnosis so much as a description of symptoms.

As for relief, currently I take: Lyrica, Tizanadine, Prednisone, and was getting Rituximab infusions but had to stop for pregnancy. I am trying to get to try IVIG. Over the years I've tried many other things. One drug, Potiga, got pulled by the FDA which sucked because it had been helping me.

As far as looking through my genome, I guess it was a relief to see that neither myself nor my parents had the ApoE 4 genotype associated with huge risk for Alzheimer's, considering my grandpa died from that at like 75.

Thank you it is rough right now but as my husband says, it always subsides eventually.

DaddysNumpty6 karma

Have you been tested for Lyme? I have the illness myself and I have learned a lot about it and how weird it is. (Have been temporarily paralysed myself)

Cade_Foster_1179 karma

Yes although it was many years ago now. It's been like 8 years with this condition. I don't know what the false negative rate for Lyme disease is.

DaddysNumpty11 karma

The false negative rate is very high. Tests are very unreliable. A negative doesn’t mean you don’t have the disease. It means the bloodtest just didn’t pick up on it. So you can still be positive. I have been ill for 30+ years with this illness and was only tested last year. I had two positive tests and they made it a negative because cdc is so strict. A Lyme charity actually diagnosed me. I was paralysed for a short while when I was 13. I just wanted to inform you. I would look Chronic Lyme up and see if you have any other symptoms (make sure to look the co-infections up too)

Cade_Foster_11710 karma

I recall having looked on a couple occasions but again it was a while ago so I will give it another go, thanks.

RarewareUsedToBeGood5 karma

Be careful about anyone who would want to put you on long term antibiotics.

"Many patients referred for [Chronic] Lyme disease are ultimately found to have a rheumatologic or neurologic diagnosis. Rheumatologic diagnoses commonly misdiagnosed as Lyme disease include osteoarthritis, rheumatoid arthritis, degenerative diseases of the spine, and spondyloarthropathies. Some patients are found to have neurologic diseases, including multiple sclerosis, demyelinating diseases, amyotrophic lateral sclerosis, neuropathies, and dementia. Some CLD advocates have argued that these various conditions are simply manifestations of Lyme disease, but these hypotheses are untenable. "

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4477530/

Cade_Foster_1172 karma

So a lot of the things you just listed are motor neuropathies, mine is sensory. But I haven’t had long term antibiotics either. Thanks for the response!

drenalyn89992 karma

[deleted]

Cade_Foster_1172 karma

Midwest. Been there many years ago though, it was nice.

DerekSavoc6 karma

Does it only hurt when you attempt to use the affected muscles or all the time?

Cade_Foster_11710 karma

It is definitely use-based. So like I can walk around the house without a chair but if I do too much I pay for it and have to slather myself in lidocaine patches and ice packs and lay down.

DerekSavoc4 karma

How did they determine that it was small fiber neuropathy?

Cade_Foster_11711 karma

Skin biopsy - I had way fewer small nerve fibers in the biopsy area than one is supposed to. They did it in a few places on my body, same issue in all the places. They also did it again a few years later, still too few fibers. The sucky thing is the biopsies leave scars.

DerekSavoc2 karma

Do you get migraines?

Cade_Foster_1175 karma

Not yet! I hope that didn't jinx it.

cloudunknowing5 karma

Are you aware of anyone else who has had a similar health event? Do you have any secret guesses about what is going on? Do you ever have any doctors tell you -- or hint -- that it's in your head and if so, give me their addresses and I will have them killed for you? (kidding)

Cade_Foster_11710 karma

Some people I’ve met through the Rare Disease Day website are going through similar things and have tried many of the same drugs, tests and even doctors as me. Secret guess? Well I don’t know if it’s a secret but I think it could be some specific antibody that there is no test panel for because it’s too unique. My husband thinks it’s a lactic acid issue or related to antibiotics I took like decades ago.

Thankfully my doctors have been pretty respectful in that sense, though my neurologist is kind of an old sexist prick but a damn good neurologist so..

cloudunknowing4 karma

sorry, just one more: where were you when you first had symptoms? any medical interventions -- even very minor -- in the preceding weeks?

i think you're awesome, btw. i couldn't finish my Ph.d. even with zero health problems and full funding. sad.

Cade_Foster_1174 karma

First symptoms I was in a yoga class actually. I used to do yoga all the time so it wasn’t like my first time or anything. But it wasn’t until I went biking on it that it really messed it up. I wasn’t feeling right so I came home early and went to the mall instead. Halfway to a store I’m like.. fuck I can barely walk I need to get out of here. That was the day after my 26th bday. Medical interventions in the preceding weeks? I don’t think so, I was just chilling in grad school. Of course that was 8 years ago now so I’m sure my memory is not perfect.

Thank you! PhD is not for everyone, I don’t even think it was for me I just honestly didn’t have a better idea so I stayed kind of because I was too afraid to admit I didn’t want to do it. Oh well too late now! I’m trying to get out of academia honestly. It’s rough.

leave_me_behind1 karma

[deleted]

Cade_Foster_1171 karma

No the condition started in my leg so at this point I’m talking about my left thigh. Sorry I think I put it in the main post but maybe hidden a bit.

Sleuthtoes5 karma

Thanks for doing this AMA! I know that you have looked into the genetic factors of this disease and not found much, but I was wondering if you were at all worried about the possibility of it being passed to your children? As someone who has some mental problems that could possibly be passed down to biological children it's something I've thought a lot about.

Cade_Foster_1172 karma

I had thought of it for sure. But I felt pretty okay in that I’m the only one in my family with anything like this, so I figure I am a fluke of wrong genes/wrong environment combo. Plus I have boys so I was sort of glad in that sense since I was worried it would be more likely for a girl. I would have been more concerned if specific diseases ran in my family for sure.

barking-chicken2 karma

Did you go through your pregnancies before or after the onset of your symptoms? If after that was that like, having manage spoons when you had no idea how your body would react to the pregnancy? Its something I think about a lot.

Cade_Foster_1172 karma

Pregnancies were well after symptoms started. Some people thought I might improve during pregnancy since it can cause some diseases to go into remission. But basically I stayed the same with regard to my condition. I was worried about what would happen but finally was like fuck it either shit or get off the pot. I’m not getting younger!

RavingRationality4 karma

I have no questions. I just want to say that I read your submission title incorrectly, as "IamA 34 year old human female geneticist," and started thinking, "What other species can be geneticists?"

That's enough RPGs for me.

Cade_Foster_1172 karma

I should have written it that way

LeoBravo4 karma

  1. What’s the absolute weirdest thing you thought it might be, and how did you eliminate that as a possibility?

  2. What are your current “leads”? I.e. what’s the next thing you’re checking for

  3. Do you have supertypes of conditions that you’ve definitely eliminated completely as a culprit? I.e. is the idea that it’s autoimmune based on definitely eliminating other causes as possibilities? In other words, “it’s not bacterial because X”, “it’s not viral because Y”, “it’s not fungal because Z”, etc.

  4. I assume you’ve had tests both during flare-ups and when it’s “dormant” or whatever. What differences have shown up?

Obviously I’m not a doctor and am not purporting to be able to “figure it out” over the Internet, I’m just genuinely curious to hear more of this medical mystery

Cade_Foster_1173 karma

Not sure if this counts as weird but tested the hypothesis it was a side effect from my hypertension medication that I’ve been on since I was 20 (hypertension runs in the females in my family though we are thin). Tested by switching meds and nothing changed.

Leads are more in treatment of symptoms although we always look out for articles on genetics of pain and such since I have my genetic data. Anti-seizure meds have been the most helpful. The FDA pulled one that had been helping me and I had to go off it cold turkey. That was rough.

The idea that it is autoimmune is based on the empirical evidence that certain traditional autoimmune therapies seem to help a bit (ie Prednisone, Rituximab infusions etc. ). The weird thing is that there is little visible inflammation even on imaging.

You know, I don’t actually know the answer to the last question though I know I’ve had lab work during periods of relative calm and during a flare. There’s just so much data that gets accumulated. I should see if I can tell though.

LeoBravo2 karma

What did the FDA pull?

EDIT: oh wait I see it, Potiga

Cade_Foster_1172 karma

Yea that was a helpful one :(

LeoBravo1 karma

I’m looking up Potiga and it says the FDA approved it in 2010 but the company discontinued it in 2017, and it doesn’t specify a reason. What happened? Looks like one of us has an excuse to update Wikipedia :P

EDIT: wait never mind I found it

The company has stated the withdrawal is for commercial reasons, due to very limited use and declining numbers of patients initiating therapy on the drug.

However, in 2013 the US FDA issued a safety communication and placed a black boxed warning on the drug label, related to risks of retinal abnormalities, potential vision loss, and blue discoloration of the skin, nail, mucous membrane, and white-of-the-eye. Whether these changes were reversible was unknown at that time. The FDA also advised all patients taking the medication to have baseline eye exams, followed by periodic eye exams every 6 months.

Cade_Foster_1172 karma

Yeah it sounds bad but there were a few people it really helped. It came down to them not making money on it really. Some people with very specific forms of epilepsy (caused by specific mutations etc) still can get it I believe

OurManlyPeace4 karma

I'm assuming your doctors likely followed this up, but random weakness, pain, vision changes, etc. in a young woman really makes me think of MS. Have they ever followed you with MRIs during/after episodes?

Cade_Foster_1173 karma

Well no vision changes yet. Just pain. MS is a motor neuropathy whereas this is sensory. I have had full body MRIs but they didn’t see anything. Frustrating!

RarewareUsedToBeGood3 karma

At this time, do you feel that there is an answer out there for the origin of your small muscle neuropathy that doctors have been missing? Or do you feel that the cause is something that has not yet been characterized in the research/medical community?

Cade_Foster_1173 karma

So I think it’s a combination of the fact that they automatically label like half of SFN cases as idiopathic and don’t go any further with it and the fact that there are more things that can go wrong with an immune system than there are tests to test for those things. Immunology is hard. But I also think that doctors need to work together more on difficult patients.

rabidchkn3 karma

I have heard a lot of good things about stem cell therapy in other countries, such as Panama, and its positive effects on autoimmune diseases. Have you considered stem cell therapy?

Cade_Foster_1172 karma

So I would be interested definitely. I know other people go to great lengths to try it like going to other countries and such. I am hopeful it will become more mainstream as it gets better regulation and clinical trials etc.

ctmurray3 karma

You say you are in the midwest, can you get to Mayo? I was diagnosed with small fiber neuropathy by them with a sweat test (we don't sweat on our extremities except your head). They get all their specialist to see you over a one to three day stay. They do an initial evaluation and then set up the visits with all the appropriate specialists, so I had to come back a few days later (I was in MPLS). If you are from further out I think the time gap might be less. But I think your kind of strange symptoms and lack of diagnosis would be up their alley.

Cade_Foster_1172 karma

I went to the one in Scottsdale many years ago but they didn’t do any sweat test. They did like- electro acupuncture which didn’t really help.

ctmurray2 karma

Maybe a visit to the mothership in Rochester would be worth another view by them. I had several internists, neurologists, x-rays and other tests that never got to the diagnosis of small fiber neuropathy until went to Mayo. You have it worse that I do, or it is due to a different cause. My SFN only makes my feet and lower legs, plus my arm and hand have the nerve pain. Nothing at my throat. And my pain is like having sunburn on my skin if anything touches - but not a pain that is sharp or would not let me walk. I am on gabapentin and it keeps the flair ups down, so keeping a low level of nerve pain, allowing me to sleep. I also use a blanket lifter to keep the covers and sheets off my legs. I hope you find a diagnosis or multiple diagnosis. Even if not treatable, knowing helps ease the mind.

Cade_Foster_1171 karma

Definitely! I’d love to go there. My aunt even lives there. Just need to get these babies a little older! I would love a real diagnosis.

Genji-slam3 karma

Do you like smoking weed?

Cade_Foster_1172 karma

I do indeed! But am currently breastfeeding so that’s out for a while anyway. Medical is on the ballot here this fall. I hope it passes.

Old_school_dreamer2 karma

Just out of curiosity, why only sequence your exome? There is a possibility that if the problem is genetic that you could be looking at a change in a regulatory region or even non-coding sequence. Have you considered whole genome sequencing or even RNAseq techniques?

Source: Am C. elegans researcher looking at regulation of gene expression via small RNAs targeting non-coding regions, specifically in the context of rare genetic disorders and cancer.

Cade_Foster_1173 karma

Because we did it ourselves and like five six years ago when just exome was $$$. I would like to redo with whole genome!

Old_school_dreamer2 karma

Fair enough. Still pretty pricey I'm afraid, but there are some good companies out there than will sequence for you and then scan your genome against disease databanks and even SNP libraries. Might uncover something interesting. Best of luck in the future and stay strong!

Cade_Foster_1171 karma

Thank you!!

swingerofbirch2 karma

Have you heard of CrowdMed? I haven't use it so I can't vouch for it. It's a crowd-sourced diagnostic site: https://www.crowdmed.com/

Have you sought out experts? Like a "Dr. House" (hopefully not exactly like Dr. House)?

Is there a point where you accept not knowing what the disease is or do you think you'll continue looking?

I hope you're feeling OK today.

Cade_Foster_1173 karma

Have not tried that site but thank you I will. I have met some similar folks through the Rare Disease Day website. I have seen many doctors but not any I would describe as House. Where do I get one of those? It’s quite frustrating how little work between specialists actually happens. The onus is always on the patient.

We keep an eye out for new genetic studies on pain and things like that and new drugs are always going to get made so I won’t ever fully give up for better symptom relief especially. But ‘cured?’ I doubt it.

Thank you, today not my worst day but not my best either.

fox-four2 karma

[deleted]

Cade_Foster_1171 karma

Thank you!

YourChosenDeity2 karma

Have you tried rubbing some dirt on it, kid?

Cade_Foster_1171 karma

Aw snap I’m cured! Also, are you my father in law?

MasterPip2 karma

I'm on mobile so I haven't seen all the comments so forgive me.

My brother is going through something similar. He's been out of work for 3 years because of it. No doctor will diagnose him because they don't know what is wrong.

He no longer feels hot or cold unless in extreme temp changes. Doesnt sweat. He no longer feels an adrenaline rush when something scary happens. He can no longer feel his internal organs. This includes having to use the restroom. Instead he can feel "pressure" so it's the only way he knows to go. Among a dozen more things that I can't remember.

He has been to every speciality doctor that you can imagine if it ends in ologist. Neurologist, urologist, etc.. He has run every conceivable test and it never says anything. He's denied disability because of no diagnosis.

Do you have any advice? Everytime he goes to a doc he's treated like a pariah. He's sick of hearing that it's all in his head.

Cade_Foster_1171 karma

The not knowing is the hardest. Besides don’t give up- maybe look into genetic analysis?

konzy272 karma

Since you suspect autoimmune disfuntion, have you considered infecting yourself with hook worms?

Cade_Foster_1171 karma

Ha my advisor in grad school said this. Yes I would try for sure but where do I even go to do that safely?

pmp221 karma

I'm not sure deliberately induced immunosuppression is part of standard differential diagnosis protocols. But if you were determined to try it, wouldn't it be better to try immunosuppressive drugs that were selected based on educated guesses about the underlying etiology given under the guidance of a specialist?

Cade_Foster_1171 karma

Well I am on prednisone and I’m the past rituximab so yes have been on immunosuppressive drugs. They help a bit.

Revlis-TK4212 karma

I know that piling on the "what about..." isn't terribly useful, so I apologize up front. Just didn't see this one mentioned anywhere, so figured may as well:

Ever checked for Mycobacterium leprae aka Leprosy? Chronic neuropathic pain is paradoxically and non-intuitively the result in a growing number of cases in the literature. Has probably been under-reported in the past since it's usually the opposite problem with Leprosy patients.

Cade_Foster_1171 karma

Would I not look more ... leper like? Especially after all the immunosuppressive drugs like prednisone?

FistSandwich2 karma

Have you really tried? I mean really tried. I tore a whole bunch of stuff in my leg trying to move my toes but now I can move them

Cade_Foster_1172 karma

Oh I can move them it just hurts too much to do it more than a little. Hence the sensory neuropathy. Nerve death is painful and it hasn’t stopped as determined by biopsy.

KidArk2 karma

When you cant speak is it a lung/ larynx issue? Is their a chest tightening involved? Is it more you forget how it feels to speak or can you just make all the motions to speak but nothing happens? Can you cough? Do you have a name for the condition. Are you the only person documented with this condition?

Cade_Foster_1171 karma

Yes I can cough. It’s more pain on one side of what feels like my larynx. Interestingly eating very spicy foods helps temporarily. If I tried to speak it would hurt too much and nothing comes out or only a whisper. No name yet!! People have some overlap with my symptoms though not completely.

PhantomTroupe262 karma

Wow I'm so sorry. I just wanted to say I'll be praying for you and your family. I hope a doctor finds the problem so you can be cured. I hope things get better as well

My question is how have you explained your situation to your kids? My mom was extremely "sick" when I was really young. She actually had thyroid cancer and I didn't understand the severity until I was much older. I'm wondering what you've told your kids and how they feel about it and cope with it. I'm assuming they're still really young as well

Thank you so much for doing this. I'm sure it's not easy but I'm glad you're taking steps forward every day

Cade_Foster_1172 karma

They’re both under two so I haven’t explained anything yet but I do wonder how it will affect them growing up. Hopefully they’ll be more empathetic because of it.
Thank you for the prayers!

mikailovitch2 karma

How did your pregnancies/births go? I’d be really interested to know more, if you don’t mind sharing. :)

Cade_Foster_1171 karma

They were both early. My first was 8 weeks early due to IUGR, spent some time in the hospital but is a normal toddler now. My second was a month early (labor started at like 36 weeks) but you wouldn’t know it to look at him. He’s not even two months but is probably 11 lbs. otherwise boring pregnancies!

mikailovitch1 karma

Thank you for your answer! Were you able to have them naturally (as opposed to a c-section)? If yes, how did you manage it?

Cade_Foster_1171 karma

Both were c sections.

TMJawa2 karma

Do you feel numb or have pain when you're in contact with an object? (Ex: Leaning against a wall, your blanket)

Cade_Foster_1171 karma

No it’s pain with repetitive activity like walking and talking etc. But not just tactile pain or anything.

IamDDT2 karma

Perhaps this has been asked before, but have you considered epigenetic causes (DNA methylation, histone mods, even alternative splicing defects (which may not "look" interesting by sequencing)?

Cade_Foster_1172 karma

I would love to test all kinds of regulatory stuff but like for that there would have to be a specific hypothesis, or the possibilities are endless. Do you have one in mind?

IamDDT1 karma

Unfortunately not, without reading a lot of what has already been done. If you have done NGS exon sequencing, though, it may be that you could look at promoter methylation after bisulfite conversion as well. Just a thought if the top of my head.

Cade_Foster_1172 karma

Thanks for the brainstorming!

marifergarz2 karma

Hi there! I'm also a genetics major graduating from college this Sunday!

I would love to know more about the work you've been doing in genetics. What's your PhD research about? Also what's your opinion about working on academia? Any tips for a young geneticist? I'm currently interning for a pharmaceutical company but I'm not quite sure what I want to do afterwards.

I agree with the person above me who said that you should sequence your entire genome! Even though we don't truly know what non coding DNA does I'm sure that it has a purpose. Especially because I just recently learned in class that you might have a healthy looking genome but mutations in how mRNA splices can cause defects when making proteins.

Cade_Foster_1171 karma

Congrats on graduation!

My actual PhD was on evolutionary genetics of addiction. But now I do genetics of neurological and skeletal disorders. Academia is not for everyone. It can be pretty brutal and PI positions are not always easy to get. Industry is where the money is but then you’re not your own boss so they each have drawbacks. Personally I’d like to work for the government in some capacity. Maybe CDC? Would love to do whole genome! We just did the exome at the time for cost reasons.

Tips? Well as sad as it is to say if you want to do academia, just try to get a job a lab that publishes a lot. Even if you’re a middle author on a handful of papers before grad school that helps a lot. I worked in a lab for two years in between undergrad and grad school and it was a good experience.

Reddit-TheBoredGame2 karma

What if this is your superhero background story in the making?

Seriously though, best of luck and I hope you figure this out for yourself and posterity!

Cade_Foster_1172 karma

Thank you so much! I don’t feel like a superhero most days but it’s appreciated!

MissNewYearsEve2 karma

Have you tried using cannabis for any relief?

Cade_Foster_1171 karma

I have back in grad school. I wish medical were legal in my state but I’m breastfeeding anyway so that’s out for a while. It did help sometimes and other times it made me focus on the pain more. But I’m interested to try again and try different strains etc.

MissNewYearsEve2 karma

If you use it for medicinal purposes and not recreationally, you may find great relief! The only types of strains to note are: Sativa, more of an uplifting medicine and Indica, more of a muscle relaxing medicine, and the hybrids. Note, THC is the main cannabinoid that causes the high effect. The lesser known CBD cannabinoid contains the pain relief side effects, without the actual high feeling. Many states have legalized CBD, even if they are against decriminalization of THC products. But it's not broadcasted in the conservative states because there's still a lot of negative propaganda being spread about this wonderful plant. I would recommend to look into CBD for your state.

My best friend has a muscle disorder, and she has tried everything the doctor told her. While she's always been a pot smoker, she stopped smokin for a while and she had more problems. So when she started using again, she felt much relief. Thankfully she lives in California. But even one of her doctors is against cannabis use and is in total denial of her attesting to the fact it makes her better. So keep that in mind if you ever bring it up with your doctor's, only you know your body and what's right for it. As a tip to also keep in mind, she only likes Sativas because her body reacts better with the uppers.

I am an avid pothead and I truly believe in it's natural healing powers. While I'm not a doctor, I believe it could help you if you let it. It's also not for everyone, I know many don't like the high feeling, so that's why I like bringing up CBD. If all else fails, many weed distributors selling on the street know the difference and should be able to find and provide sativa and/or indica for you to test out. Many of them have edibles that might be more up you alley... Anyways, good luck.

Cade_Foster_1171 karma

Thanks! My state is quite conservative but medical still may pass! Either way I will try again when I’m done breastfeeding. I was a pothead back in the day haha oh college :)

Aeyrien2 karma

Have you read Diana's Story, by Deric Longden? It's about his wife's life with myalgic encephalomyelitis. Another one of those ones that having a name at least makes it less of a mystery, if not better.

I'm sorry your body is going through such an adventure! That's no fun at all. Happy to read you are able to have love and children and happiness along with your mystery.

Cade_Foster_1172 karma

Thank you! Best to you as well.

blackleaf312 karma

What has been your experience with diet based remedies?

Autoimmune can sometimes be impacted by diet in unexpected ways, such as impacting the microbiome in a way that your body is rejecting, leading to neurological or other damage. Sugar, refined or processed flour & grains, and the like can sometimes produce these kinds of symptoms.

Has any dietary changes ever made a difference for your illness?

Cade_Foster_11714 karma

I tried gluten-free for several months and it didn't do anything except make me sad. No one has really suggested elimination of anything else. I definitely have a healthy diet in the traditional sense (barring recent pregnancy cravings). I don't drink soda though or eat that much sugar. I have been interested in keto but haven't tried it yet.

Kooper20811 karma

Have you tried not eating? What about eating everything. What about being positive.

I'm not being serious, I hope this made you smile at least a bit after it (hopefully) made you do the angry eyes at your screen.

Also good luck :).

ALSO what do you do for fun when you're having a tough mental day? I bought an expensive star wars Lego set after a really horrible two weeks in and out of the hospital with a family member and it helped me re center and remember good old childhood days.

Cade_Foster_1175 karma

Haha thank you! For fun I play with my kids or listen to music, go outside, have a drink. Nothing too crazy!

Kooper2082 karma

Well it's good to hear that you don't let it control your life (as much as it could). Take care.

Cade_Foster_1171 karma

You too!

Lord_Redav1 karma

Have you tried the autoimmune Paleo diet? Really restrictive, but helpful for some.

Cade_Foster_1173 karma

Have not tried it!

canadave_nyc1 karma

So sorry to hear of your troubles. It's not Guillain-Barre Syndrome, possibly? This website lists loss of ability to walk and voice loss as potential symptoms of that syndrome:

https://www.diagnose-me.com/symptoms-of/guillain-barre-syndrome.php

Cade_Foster_1171 karma

That was one of the first things they looked at way back in grad school. I’m old!

8MileAllstars1 karma

Have you looked into Guillain-Barre Syndrome? My father came down with it in his 40's and it took a few years to recover, but he had numerous symptoms that sound similar to your situation. Best of luck in getting through this.

Cade_Foster_1172 karma

Thank you! They did look at that a while back though not recently.

pmp221 karma

Some shots in the dark, is SCN9A / SCN10A okay? Reflexes okay? All Charcot Marie Tooth genotypes ruled out (even the esoteric de novo ones)? Any immune responses that corelate with the "flare up" of symptoms? What did the NCV test show? Is Boreliosis ruled out? Maybe if it's a point mutation or SNP it's "hiding" in one of the errors in the assembly? Don't ever give up the search for the answer, there is always a reason.

Edit: I looked through your answers now, feel free to discard the obvious misses. Do you have your entire case history written somewhere? I'm willing to put my two uneducated eyes on it.

Cade_Foster_1172 karma

So I have a nonsense variant in SCN9A but my dad does as well and he is symptom free! Reflexes seem okay. CMT was negative though I don’t know how many genotypes they tested there. I really do need to look through my records to see if there is anything in the blood work during flares but I’ve had a lot of blood drawn and they always tell me it was normal.

It’s true we only got 30x coverage and only exome not whole genome so room for errors there! I won’t give up kind internet stranger!

medcur1 karma

I was told I had small fibre polyneuropathy a few years ago but they decided it wasn't that after new symptoms arose.

I experience pain, numbness, tingling, burning, lack of pin prick sensitivity in some areas and hypersensitivity in others: do you have anything like that too?

Cade_Foster_1171 karma

So far mine has just been straight pain. Like stinging throbbing pain and not really in the pins and needles side of things.

navegandoagusto1 karma

I just want to say that you have a clever, warm sense of humor. Do you use that to deal with stress? I hope you find soon a clue of your illness!

Cade_Foster_1172 karma

Aw thanks! I’m not always the best with stress but I try. I suck at relaxing sometimes. Thank you again!

BurgerPleaseYT1 karma

What's your favorite burger joint?

Cade_Foster_1171 karma

Just a good pub burger. There is a restaurant in DC called ‘The Diner’ on 18th street. I recall it being really good but I was also in college so I don’t know if it holds up to the memory.

5footbanana1 karma

Are your clubbed fingers a symptom of your issue? They're usually associated with respitory problems.

Cade_Foster_1172 karma

Thant’s not my family pedigree we study skeletal and neurological disorders in our lab that’s just some work sorry for confusion!

5footbanana1 karma

Without meaning to be rude I meant in the photo of your wedding ring.

Cade_Foster_1171 karma

Oh ha. Does it look like I have clubbed fingers? No one has ever mentioned it to me. Maybe the picture is blurry?

needmorexanax1 karma

Does your face hurt too, and would you ever be unable to smile because of that?

Cade_Foster_1172 karma

Not yet. Man that would suck.

iamcherry1 karma

Have you spoken to someone about a possible conversion disorder?

Cade_Foster_1172 karma

Since there is biopsy evidence of small fiber death which causes pain it seems unlikely, but no, no one has mentioned that so far. Plus certain medications do help.

sci_lit1 karma

Odd question, but have you looked into umbilical stem cell therapy? I've read into it quite a bit and seems like it could maybe be helpful. I dunno, def not a doctor and just thought i'd ask, I hope your condition improves :)

Cade_Foster_1172 karma

Thank you! I have read about it, maybe one day I will try something like that.

hercwerk1 karma

What gender and species are you, and what unique perspective does this bring to your study of female human genetics?

Cade_Foster_1171 karma

I wish I had a witty response here but all that came in my head was Mork from Orc lol

chazzers961 karma

Hi, just wondering if you have excluded viral and if so how? Pretty weird of medics to settle for "autoimmune" at 26... Secondly have you looked at epigenome? Dunno if it would be worth it but following on from genetic stuff Thirdly have you tried grow factor stimulating regeneration of nerves? Dunno how feasible that is (promising trials) or if it would help but just pops into mind

Cade_Foster_1171 karma

Any virus in particular? Autoimmune was only because certain autoimmune drugs seem to help me. Otherwise I’d be stuck at idiopathic! Have not tried nerve regeneration but would that even help if they’re still dying?

AgentVenomSnake1 karma

Hmmm is your father a surgeon?

And if so has he accidentally killed a patient due to a drinking problem?

And if so if so has he recently brought a younger man to dinner seemingly out of no where?

Cade_Foster_1171 karma

Um..no? Is this from a movie or something?

practicaldad1 karma

Inspirational. I hope they can figure out what’s going on. Have they checked for parasites?

Cade_Foster_1175 karma

Any specific ones? I had a lyme disease test a while ago. And had test for heavy metal poisoning and things like that but I can't recall any parasite tests.

i-node1 karma

Has this gotten worse over time or has it stabilized? If this is autoimmune would immunosuppressants help? You said your family has no history of this disease, do you personally believe it is genetic?

Cade_Foster_1171 karma

It is overall stable with occasional flare ups. I mean, Everything is genetic to an extent anyway, whether due to expression differences or methylation or chromatin or any number of possibilities other than just mutation =causative . Whether it is heritable is another thing.

rbhmheart0 karma

Is there a non-human geneticist?

Cade_Foster_1174 karma

Well people use animal models for a lot of developmental things for instance. And there are ecologists looking at genetics of plant populations. Even our lab uses zebrafish models for skeletal issues. Just depends on your scientific question if a model would help or not.

CTC424 karma

I think they were being silly... i.e. is there a geneticist that isn't a human

Cade_Foster_1172 karma

Oh lmao I missed that one

Alwayscomesinside10-10 karma

Hmm I need more proof. Can you post a pic of you sitting in a wheelchair to empirically confirm that you can't walk?

Cade_Foster_1175 karma

https://imgur.com/a/HqPzYuc

Here is me in my lab coat and scooter. I added it to the main text. Really hard to get me and scooter in the picture as a selfie but I took ones of my ring so you can see it's my hand etc.

Alwayscomesinside105 karma

That's a nice ride.

Cade_Foster_1174 karma

Thanks it is pretty sturdy. Once I hit it with my car.

Cade_Foster_1171 karma

Already added to body of text but here you go! My whip:

https://imgur.com/a/HqPzYuc