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    New member & looking for answers due to complex case

    #Porencephaly #story #exhaustion #help #Misdiagnosed #underdiagnosed #complexcase #26years #symptomlist #rejected #Support #LongPost

    (If you took the time to read this your amazing, seriously!)

    Hi. My name is Nick. I'm new here. As much as I loathe this, I'am a complex case. I've been dealing with an unusual dilemma. I get diagnosed with one set of diseases, then getting a second & third set of diagnosis that don't seem related to the 1st set of diagnosis. What do I mean? The genetic test are the first set of results. Then the porencephaly with other incidental findings are the 2nd set of diagnosis with the 3rd and most recent set being due to my throat symptoms: adult dysphagia, adenopathy, & neck crepitus with manual right shift of trachea." I can't be overthinking this but, I can't shake the feeling something is wrong possibly beyond the scope of porencephaly. I got accepted by nord for the campaign but that was about it. My rare disease submission never got posted & I got turned down by my geneticist for further testing with the remark of "There's nothing else I can do for you." *Even though I made mention of my cousin having a cyst that causes speech issues.* ( thanks alot.) Sigh* depressed face*. Oh well, guess I look forward. Along with neurology & spinal specialist in may I now have an neck ultrasound with possible echogram later this month on top of an ENT in late April. One might argue I'm doing this to myself but that would be the partial truth because I let something possibly dangerous get away with tearing me apart even though all the symptoms are painless.

    Why? Why this sudden deterioration in health as of a year or so ago? All the waiting has lead to partial answers. I almost want someone to sit down & figure out what I should focus on treating & what needs to be ignored. Sometimes I wake up thinking about wanting to make a model train set or traveling to a distant place & enjoying it. Too bad the former is expensive & requires too much space for our basement. The latter doesn't happen enough for me.

    I'm exhausted & ready to just give someone all my records/history & just say "figure it out." I've been wanting this to be over for a good while now but new things keep coming up & I feel like some time soon I'll stop going to doctors because I don't want to deal with the process of getting surprise diagnosis ten.

    I've had issues since birth with a neonatal stroke that we now know has turned cystic & has given us a piece of it's mind having been through many doctor visits throughout my 26 years of my family & me searching for answers. Here's the rundown: List of symptoms

    Larygnomlacia-infant historic

    Tinnitus-started at age 15

    Tmj-age 15

    Eye tilting up-age 15

    Floaters-age 15

    Dysphagia*~2019 couldn't swallow liquid properly.

    Pinched nerve in neck~2021 got better with chiropractic intervention diagnosed as pots.

    Neck/throat clicking same time as dysphagia & pinched nerve. Got better with chiropractor but still have some dysphagia & throat clicking.

    Feeling of food being stuck in throat*~2019

    Recently diagnosed adenopathy, esophageal dysphagia, & neck crepitus.

    Chiropractor caused spinal lean with digestive upset in early 2022. Digestion is ok now. But posture lean is still an issue.

    Recently diagnosed through mri & x-ray with porencephaly (brain cyst) this took 26 years to diagnose, mucous retention cyst, hemosiderin deposit, choroid plexus cysts & scoliosis of upper region with mild lumbar retrolisthesis.

    Grip weakness- started after leaving chiropractor in Feb. 2022

    Alarming rate of deterioration from being relatively healthy to needing cane due to posture lean. Most recent symptom is waking up to my left arm on my chest & having difficulty keeping it straight.

    There was a change in walking pattern as of a few years ago due to coordination challenges since toddlerhood.

    At birth I had a neonatal stroke looking like a premiee at full term. There was an undescended testicle (corrected at 6 years), 2 small holes in heart that healed on their own, microcephaly concerns, intrauterine growth restriction though grew out of it very quickly to 6ft 3in, & thrombocytopenia at birth.

    Have strabismus, nystagmus, hyperopia, optic blurring in right eye.

    Posture lean causes opposing foot to stand on toes.

    Followed closely as a child but was dropped when we moved states in 2011.

    Been in colorado since june of 2017.

    Use to have sensation in left arm of pulling sensation when peeing.

    Genetics testing according to the geneticist is insignificant but carrier for cep290 maternally & have chromosome 4p31.3-32.1 microduplication syndrome paternally with unknown significance which falls under chromosome 4p duplication syndromes (only 85 in the world.)

    Also have unusual anal quivering (seldom talked about)

    Have seen multiple doctors including neurologist (seeing one in may.), 2 physical therapist, 3 chiropractors, , neuropsychologist (childhood), on my 3rd primary doctor & genetics. I'm also seeing a spine specialist in May.

    In tears* someone help me put this all together because it's destroying me!

    3 reactions 5 comments

    BPD girlfriend; her splitting, our love and why we just keep getting stronger. #BorderlinePersonalityDisorder #CPTSD #LDR #LongPost

    Important info: we are in a Long Distance Relationship, she has BPD, I have CPTSD. We video chat daily, on a normal day we love the company of the other because of how safe, happy and relaxed we make each other feel.

    I’m lucky. Yesterday I had the courage to ask my girlfriend if she could explain her BPD to me. I knew basics like splitting and b&w view, and clinical stuff about it (cause I study psychology), but I never knew the personal perspective.

    She told me how she currently feels numb when she wakes up. She feels on edge, easy to annoy. Then she told me that when she is on the other side, she is generally happy when she wakes up.

    She told me how she currently feels like her friends are only there to pick away at her until they find something to use against her.
    And this is where I consider myself to be lucky. She no longer sees me as a threat or like I am against her. She did in the first few months of us dating, but she said that something changed and she no longer sees me with anything but love and adoration. She says I make her feel safe and loved.

    The only part of our relationship that this side sees as bad is when she cannot clearly see my emotions. She sees my blank face as annoyance ot anger. So I decided to try and make it easier and actively show my emotions more, make them clear, which should be easy cause I actually am terrible at hiding them normally.

    We also made a plan that when she wakes up she tells me a) how she feels and b) what she needs from me because of it. Like if she feels like she currently has been and needs me to show my emotions more or what ever else may help her get through the day.

    This conversation started cause I forget to mention why I left the computer for a pee break. I am currently having a hard time due to the distance and her splitting. She cannot show affection as much because even though she KNOWS she means it, that voice in her head says that it’s forced. So when I left to pee and left a bit later again to cry and compose myself, she hung up the call in what she said was a “childish action; how will she like it if I just leave” kinda of thinking.

    But we talked it all out and now we have a better understanding of the situation as a couple. She is going to try and be more open about it, treat me like an unofficial psychologist until she has the courage to get one (because she always feels like they are trying to make her look crazy). Plus my psychologist is more than happy to give her advice because if my girl isn’t happy/suffering it effects me negatively.

    I wish I could be there in person to help her more, give her the physical comfort she needs. Stupid COVID and lack of money really.

    She is stuck with me and I am stuck with her. Which is great cause both our disorders gave us abandonment issues. And we are in a healthy relationship for the most part, the conflicts we have are generally only due to lack of communication or the occasional mental health mishap.


    I don't want to give up my dreams #Fatigue #Diabetes

    I'm a 28 year old resident doctor, diagnosed 3 years ago with Type 2 diabetes. All was well until last year when I became Metformin intollerant and got put on Levemir. My blood sugar became hard to control in spite of diet and exercise. I was constantly fatigued, had headaches, nausea, dizziness, heart palpitations, barely ate anything and nobody knew what was wrong. It turned out to be my gall bladder, which got removed by the end of last year. Things were good for a couple of months, until the palpitations returned, and they got diagnosed as harmless, because the doctor didn't believe they can flare up for a few days and I get dizzy and fatigued when they do. I also have acid reflux in spite of treatment, IBS, and last month discovered that my kidneys are in distress and they might need surgery.
    I feel like my body is breaking down and I'm just powerless. Everytime I feel things might get better, something else starts hurting or failing or breaking and I just want a break.
    I have a very supportive husband who helps me in my down moments, but not even he can understand my struggle and I don't have people my age around me who get what I'm going through.
    At the hospital we have to do 12 hours shifts and they are extremely taxing on my already low energy levels. I don't want to have to give up my career, I worked hard to get here and nothing gives me more joy and makes me more proud of myself than being a doctor. I'm always afraid my colleagues are going to think I'm weak or a burden or I just like to complain. I'm scared my health might get in the way of providing good healthcare for my patients. I'm terrified at the thought of giving medicine up because my body can't handle it.
    I put all my energy into work and my personal life suffers. I can't do chores, my husband does most of them, I don't have the energy to go out and have fun and do the things I enjoy like running, trekking, dancing.
    I feel like a shadow of what I used to be and I'm scared It's only getting worse. I've never needed a support group of people who can understand the struggle like I do now.



    how do you cope with people speaking negatively about anxiety and mental health? and no, you can’t avoid them (i.e family/coworkers)

    I’ve tried so hard to explain to others about mental health issues. tried to make them understand or at least be mindful to what someone might be going through. using examples without actually telling them about myself. that didn’t work, so I finally told them about my struggles (not everything, but some) to see if that would make them a little more cautious of their words/opinions knowing someone close to them is fighting a battle. that didn’t work either. I’ve run out of ideas and energy, I now sit in silence trying to ignore and not engage in what their conversations. but sitting there and listening to all the negativity just gets me so angry, when you’re at work it’s hard to just get up and walk away. it’s in every room, bath room, office, floor. I try so hard to push it out of my mind but it just festers inside me until I get home and vent to my boyfriend.

    like why do people have to judge others? why do you have to be so set on your views and not even budge or listen to someone else. I’m not asking them to change their minds, but try to be considerate and understanding towards others. people don’t bring it upon themselves, they do not choose to battle their minds every second of every day. your struggles are not any worse or better than mine, nor mine to yours. it’s not a competition on who’s anxiety or depression is worse. who are you to judge how people deal with their issues? who are you to deminish a persons feelings and make it about your feelings? who are you to tell me I’m putting “poison (pills)” in my body and I should stop before it’s too late, when that “poison” is actually balancing the chemicals in my brain so I don’t hurt myself or feel like complete shit everyday and can actually live. don’t tell me you suffer from anxiety too when you spew all these negative thoughts and words when someone reaches out to you about their mental health. how dare you say you hate when people use mental health as an excuse, when in reality ta not an excuse they’re just trying to make you understand how they’re feeling. in my opinion, someone who truely struggles with mental health would never try to one up others and put them down about their mental health. it is so true when we say “know one really knows what you’re going through until they go through it themselves.” I feel if they truely were struggling with some sort of mental health issue, they wouldn’t be so nasty, opinionated and close minded towards others and the topic.

    #MentalHealth #Anxiety #Depression #Bekind #rant #CheckInWithMe #LongPost #ChronicPain #Pillshaming