Dysphagia

#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!

I am a proud disabled business owner. However, I have not always been. Being a bubble girl is not a badge of honor I wanted to wear. To be frank, I found my disability shameful, and embarrassing and wanted to hide it. I wanted to be seen as a whole person and not broken.

Learning young that success was only attainable if you hid vulnerabilities and put on a good game face was a lie. Yet, it felt the most comfortable place to be and I hid it well.

As A Young Girl

At age of 5, I was running businesses out of my grandmother’s kitchen. With a mustard-colored rotary phone, stacks of thick books filled with page after page of floral patterned wallpaper, and a pencil in hand I was making imaginary sales – to imaginary people.

When I type that out, it sounds a little crazy. I was a kid. Did no one else have imaginary clients?

It was obvious 40 years ago, that entrepreneurship effortlessly coursed through my veins, yet, I never knew that it would be the golden key to living a quality and secure life with a disability.

Health Crisis

By the age of 14, my health issues evolved beyond nuisances and by the age of 19, they grew debilitating. I was brushed off by every doctor who either told me “there is nothing actually wrong with you” or “it is all in your head”. As I was placed on a feeding tube formula in 2012 for 3.0.0.5 years, they pinned me as an anorexic and encouraged me to go to a treatment center.

Living 20 years with no answers, going in and out of the hospital sometimes numerous times a week, and the constant gaslighting by the medical community was very destabilizing and isolating. The loss of support over time from family and friends who started to believe I was neurotic or a hypochondriac felt crushing.

Honestly, I can't blame them. Yet, I knew instinctively that something was very wrong even if no one believed me.

My disease is rare, complex, and hard to pin down. I do believe doctors at times tried to help but often gave up. Others doctors did not even give me a chance and brushed me off immediately when they could not figure me out and I was not a simple case. Doctors don’t like a good mystery like that do in the show Grey’s Anatomy.

Aspirations Lost

My college aspiration to be a therapist was unattainable because I did not have the stamina or ability to stay in college. I enrolled and re-enrolled over and over again. I finally had to let it go.

During this time, with an abundance of time on my hands and an inability to get out into the world, being isolated gave me a new direction. I leaned into technology to research my debilitating symptoms, create connections, built community and try to gain visibility. The internet and technology saved my life in more than one way.

I started to learn website design in 1998, back when Geocities was a thing as well as graphic design and marketing.

Brief History: 1994, GeoCities was created a web hosting service that allowed users to create and publish websites for free.

Connection Through The Digital Space

Another thing I loved was being creative so I created fine art through digital means due to my severe allergies to any and all art mediums. I mastered painting with a mouse in photoshop and later was so delighted by the invention of tablets. Creativity and digital connections were not only therapeutic but one of the few windows I had into the real world and helped me stay alive.

Not long after I had started to gain ground as an artist as well as a woman in tech, I started to create visibility and income which gave me the tools to help others do the same.

Tech/Digital Skills: A Window Outside And Independence

Over the last 24 years, these skills and tools have been invaluable to me and others. I run a full-service digital marketing agency where I help my clients create authentic connections with their audience, help them gain a voice, and move into a more visible space.

Over the last few years of Covid, unlike a larger percent of the population that lived more normal and abled-bodied lives typically, I found the isolation not unfamiliar or hard to deal with. It has always been my normal and nothing changed that much for me.

I already worked remotely, I was already limited in where I could go. I often wore a mask (as I have for 15 years). I had to be careful and learn a new way to live safely.

Yet, I found those close to me who lived much more normal lives had taken a big hit. It was jarring, painful, depressing, and isolating no matter what your belief system is. The whole world changed around us.

Opportunities in Vulnerability

During this time I found it imperative to be vulnerable and support others who were struggling in this new space. I was able to sustain a number of small businesses by helping them move from in-person to online to an e-commerce platform. I helped others start and set up online courses for teaching what they loved. I also helped then build solid marketing plans so they could let go of the fear of losing their businesses.

Being a part of a greater story of overcoming and vulnerability for others around me, as well as a very significant life event changed me (more on that soon). I felt it was important not to hide my disability any longer.

Finally A Diagnosis

In late 2018, I was finally given medication, which changed my life and improved my prognosis – still no diagnosis. June 2021, I was given a life-changing diagnosis after almost 20 years of suffering from Ehlers Danlos Syndrome (Type 3), Mast Cell Disease, Dysautonomia, and POTS (Post Orthostatic Tachycardia). I also have PTSD, Cranio-Cervical Instability, Hiatal Hernia, Dysphagia, Vocal Cord Dysfunction, Neurodiversity, Esophageal Dysmotility, etc.

The long and short of this is I am Gumby. I am allergic to almost everything ( I can eat only 10 foods) and can easily go into anaphylaxis over just about anything my body finds out of normal such as food getting stuck in my throat and sternum making it hard to breathe or digest food.

My autonomic nervous system is on strike and if I stand up or lean over too fast, my heart rate goes up so fast that I can pass out. My head could fall off like the children's fairy tale "The Green Ribbon" and have a slight lisp my partner thinks is cute.

I can’t say I have ever explained my whole medical record which is about 3 inches thick in just a couple of sentences – short and sweet for the win.

I Am Disabled. I Can’t Pretend.

With a life-changing diagnosis that I can’t pretend I don’t have, I can be more active in a world that needs people to be real, authentic, and vulnerable. With my newfound stability moving out of survival mode to the thriving mode, it would be a disservice to not share my story or try to amplify the voices of other disabled people in the world and in business.

If I hide behind my disability and don’t step into my truth, I am a hypocrite. If I believe in diversity, equity, and inclusion only for others and not myself… how can I be an advocate?

It is cliche to say that “we have to put on our mask first if a plane is going down”, but it is true. We can’t empower others if we minimize ourselves.

Even though right now my disability is stable and I can step up and reach out to help others, it might not always be the case. It is obvious to me and others who live with a chronic illness that our abilities to help and participate in the world are often unpredictable. It is an ebb and flow.

We must meet ourselves where we are right now and right now I can stand up and be a voice. Later I might have to quietly slip into the background for deep self-care and repair without feeling bad, shameful, or less than. I can champion others who are able to hold the light for a while and run with the torch.

I identify as a disabled business owner and I stand with others in the best way that I can right now. I stand with others who feel marginalized in society.

Visibility for disability is so important.

I am proud to be a disabled business owner.#