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
Tinnitus-started at age 15
Eye tilting up-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!