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Out of options & no support from family members

#ChronicIllness #AutismSpectrumDisorder #Stroke #Disorder #SpinalCordInjury #Undiagnosed #CognitiveDisorders Where to begin. I honestly feel like one of those people kicking a can down a lonely street. I saw the new primary & wouldn't you believe it he was "get him in get him out" mentality. He was pretty rude, didn't know what he was looking at,& told me it's transient. (yeah having steatorrhea with undue fatigue & urinary issues that lasted 18 months is a short term issue, you know what, there right I should just sit here & do nothing.) I've noticed a pattern male doctors have this pride of there's nothing wrong with you just sit there & though it out. Honestly that's what I want to do because no one else cares... Where as the females actually have a tendency to care. I don't know what it is I really don't. But with that aside, I'm done with doctors. There you happy now? I have a physical therapist who has here own attitude problem & is determined to not only get nosey with my doctors but diagnose an fnd issue. Well I have no choice but to agree with her. But, 18 months has done nothing to help the posture so there's that. Now, I'm doing a full vitamin panel against this doctors will (I'm just a burden.) I told him insurance would cover this test completely & that I had a chat with insurance & they said it's covered. Oh, I did complain about my problems porencephaly, laryngocele, spinal cervical degradation, mildly low Igm etc. She recommended a disability coordinator for this mess but now that I don't have a doctor anymore what can we do?

You know as a kid I always wanted to have friends so that I could learn to be normal...well I never got that opportunity, sad, but what can you do? I used to be envious of not getting a diagnosis so as to find my village. That has changed ever since the porencephaly diagnosis in December of last year. Now I don't care so much anymore. I'm uncertain if we will find an issue with my vitamins. I can't wait to come into physical therapy tomorrow & be told your doing this on purpose, knock it off! What a world we live in oh well. My life has gone up in flames because not only do I have to work on my own issues but I have to work on other peoples attitudes.

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Appointments coming

#Doctors #appointments

Good morning everyone. How are you all doing today? I wanted to share that I'm seeing 3 doctors within a 3 week period. An ent in 2 days, a neurologist in a week & a spine doctor in 18 days. I'm becoming a little anxious about each of these appointments for a few good reasons. There's lots of pressure on me to say the right things & explain to them that my problem is real & is affecting my quality of life. Problem is the issue that is causing me digestive issues, swallowing issues/clicking throat, grip issues, posture abnormalities, gait disturbance/ wide based gait, tinnitus, tmj etc. I have proof of the digestive symptoms yes ew, but they may be critical in figuring out if I have an infection or not. The neurologist will need to figure out on top of all that if radiological findings are just porencephaly or something more sinister.

My guess for the first set of problems is an encephalitis of some kind. I've read about how infections can be dormant then occur suddenly after stress, excercise etc. Before we moved houses I got a pinched nerve in my neck that with correction unleashed its wrath on my poor body. I'm hoping the neurologist can piece together whats going on there. Bloodwork, urine etc have comeback normal so I don't know how we are going to detect something that is getting harder to find? The spine doctor will need to figure out why I have a posture lean. The ent will need to figure out if my swollen lymph node & nodule are benign or cancerous. There's alot we need to figure out & its kinda overwhelming. I hope all will be revealed soon. I'll keep you guys & gals updated as I learn more. Have a great day.

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Facing a complex situation

Hi. I'm new here. My name is Nick. I'm 6.3ft & enjoy traveling, swimming, music, being with my cousins when possible, I even want to get into model trains but would require a separate location as we just don't have the room in the house sadly, sometimes Lego's & sometimes games. My situation is unique because I keep getting diagnosed with new findings from different doctors & no one is putting it together. Over the course of a year I've experienced an alarming decline in health. Swallowing issues when I drank water with a throat click, a posture lean that came on from seeking chiropractor help due to pinched nerve that was causing me to fall. I saw genetics prior & all they came up with was a chromosome 4 duplication & a carrier for cep290. They deemed me as having insignificant results. Though the biggest discovery was the mri test & X-ray they ran Where they found porencephaly with a bunch of incidental findings like choroid plexus cysts, mucous retention cyst, & a hemosiderin deposit. The x-ray revealed upper scoliosis, & mild lumbar retrolisthesis. prior to that I was getting told from a board certified neuro physical therapist that it is conversion disorder & she tried to prove it & even When I told her the results of the mri she told me she still thinks it's conversion disorder. Idk maybe it's me & I need to just stop seeing doctors. The amount of spat I've gotten is incredible with my current gp having more care than all previous doctors combined. I even reached out to my geneticist who turned down all evidence I gave with there's nothing I can do for you & I have no recommendations. I even mentioned my cousin who has a speech disorder due to a cyst in his brain. I have 4 appointments coming up & I need someone to piece my history & figure out if we are after all this still missing something here. There's a few unanswered questions from my childhood/birth. This has taken it's toll on my family & I'm just fed up, tired & ready to forget about the medical field because they can't seem to put 2 & 2 together. If you want me to go more in depth as to what went on let me know & I'll post as much as I can on here. Have a good day :).

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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!

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