Keep calm, God is writing your story.
My journey began over a month prior to my due date. I decided to make my entrance into this world a bold and scary way. I was born Emergency C-section on a Sunday morning in May. When every child is born they are given an APGAR score (Appearance, Pulse, Grimace, Activity, Respiration) based on the scale 0-10, ten being the healthiest, at the 1 and 5 minute mark after birth. Both of my scores were a 1 and I was described as "limp, lifeless, and whiter than a ghost." My chances of survival were slim and received my Last Rites. I remained in the NICU (Neonatal Intensive Care Unit) for a couple months until I was strong enough to go home with multiple machines, numerous wires, etc...
I was delayed at achieving all of my milestones. I had loss of all muscle coordination and motor control. However, despite the doctors opinions and the odds of it helping, my parents pushed for intense Physical Therapy and Occupational Therapy. After months and years of different therapies, I was finally able to regain control of my muscles. It started with the achievement that I could hold my head up on my own and then went to sitting up on my own. After a long anticipated wait, I was finally able to take my first steps.
Bilateral Sensorineural Hearing Loss- At 18 months old, I got my first set of hearing aids and have had them ever since then! To date, my hearing loss has progressed to severe to profound bilaterally. After some testing, we found out that my type of hearing loss is genetic, even though there is no history (as far as we know) of anyone in my family having this gene.
Apnea- Many people are familiar with 'Sleep Apnea' which basically exactly what I had, although I had it all the time, not just when I was sleeping. When I was little, since I didn't have any control over my muscles, often I would forget to breathe, or stop breathing. I came home from the NICU hooked up to a machine in which would sound an alarm to let my parents know whenever I did stop breathing.
Asthma, Atopic Dermatitis, and severe allergies are all part of a "triangle." If you had Asthma, you had a risk for developing allergies, and if you had Asthma and allergies, you were at risk for developing Atopic Dermatitis (Eczema). My Asthma, growing up, would require frequent doctor visits, some ER visits, but never (used) to be any admissions involved. (Mostly just needed extra medications!) My Eczema would cause me to be on steriods and antibiotics pretty often for some intense skin infections, but was always pretty manageable. My allergies started with basically every single thing outside and had several food allergies too: all types of nuts, eggs, shellfish, fructose, lactose, etc... However as I grew up, we noticed that I would "go in and out" of food allergies. Sometimes I was able to ingest milk, eggs, or fructose, for a period of time. Then often times we found that I would become intolerant to certain foods again, etc...
As a kid, I was diagnosed with "chronic infections" which mostly just sounds like a symptom vs. a diagnosis, and that's because in a sense, it is. But it was an important thing to pay attention too because it required extra attention. Especially in certain situations!
We also found out that I have Gastroesophageal Reflux Disease. With medication, it's usually pretty manageable.
I had a minor surgery on the top of my left foot to remove a suspicious birthmark/mole. What should of been a very minor procedure, could have ended up catastrophic. Very shortly after my procedure, we noticed that my incision was not healing, and at one point the stiches had 'popped' open, exposing the entire inside of my foot. We ended up in the hospital, where we found out that I had multiple, very serious, strains of bacteria growing inside of my foot. I'll never forget the multiple ER doctors, who sent someone in my room to talk to me about possible amputation of my left foot. They were convinced the infection had already started to spread up my bone. THANKFULLY, that was not the case and we barely caught it in time before it had spread to my bone. After a long hospital stay, I remained in Physical Therapy for a couple years, until I learned how to re-walk and use my left leg all over again.
I decided to go on a bike ride with a friend. We got about 10 minutes away from my house when I noticed my chest starting hurting and my breathing was becoming more and more labored. We made it back home when I noticed that I was in severe respiratory distress. I landed myself in the Emergency Department, Critical Care, and eventually the PICU (Pulmonary Intensive Care Unit).
My previous diagnosis of mild Asthma was now, severe-persistent, uncontrollable Asthma/Chronic Respiratory Distress.
It was also found that I had developed a second lung disease. Allergic Broncho-Pulmonary Aspergillosis (ABPA). A rare, hypersensitivity of the immune system to a fungus called Aspergillus. I developed a severe allergic reaction to something that grows everywhere, inside, outside, the air, etc... But that wasn't the worst part. We then discovered that same exact fungus was rapidly growing inside all areas of my lungs. I was started on anti-fungal medications and treatment plans. After a while, my body backed me into a corner and I had no choice but to put these treatments on hold.
This year added more foreign words into my already racked brain. It added more medications, more treatment plans, more hospitalizations. My first diagnosis of the year came in February, it being Vocal Cord Dysfunction (VCD). Vocal Cord Dysfunction happens when the vocal cord flaps do not open and close properly. When you breathe in, your vocal cords are supposed to open, allowing air to move freely. With VCD the vocal cord muscles tense up, not allowing the air to flow easily, further making breathing difficult.
The second diagnosis was Hyperimmunoglobulin E Syndrome (Hyper IgE Syndrome). This is a rare primary immunodeficiency disease that is characterized by other illnesses amongst the skin, sinuses, bones, respiratory system, teeth, etc... especially chronic infections within the lungs, skin, and sinuses. There are different parts of your immune system (IgA, IgG, IgM, IgE, IgD). Immunoglobulin E (IgE) levels have to deal with allergic reactions, your allergic response, and how your immune system overreacts when in contact with the allergens. These levels are supposed to be under 250. My levels are 16,800. This is a shockingly high number in which my Immunologist has only ever seen one other person with extremely high levels, such as mine.
I was also diagnosed with another rare disease called Adrenal Insufficiency (Hypoadrenalism). This is a chronic illness in which my adrenal glands have shut down, not producing enough of the vital hormones my body needs to function. Basic daily functions such as maintaining BP and heart function, balancing the effects of insulin and breaking it down for energy, regulating metabolism, and slowing down the immune systems inflammatory response are all impaired. When your body tries to fight off an infection, you get ill, have a fever, etc... your hormones kick into gear helping your body with controlling these symptoms. In Adrenal Insufficiency, there is not enough, if any, of these hormones to help your body fight through it. This puts me at higher risk for my body going into shock from any serious injury or illness.
I was given different diagnoses within my back. Some of them include:
Spondylosis is a condition in the spine, caused from a lot of degeneration in my intervertebral discs. Meaning there is a crack in the "ring" part of my spine.
Spondylolisthesis is a condition where a part of my vertebra slips out of the correct position and sits on the bone underneath it, or spinal misalignment. This means that there is a crack in the "ring" part of my spine on both sides, causing it to slip out of place. (Essentially, it means I have Spondylosis on both sides.)
Tethered Spinal Cord is a condition in my spine in which the bottom part of my spinal cord is attached to skin from my back. Normally, as you grow inside the womb, your body learns to detach itself from the skin and bones around it, when you have Tethered Cord, it means your body did not do this process on its own. As you grow, this attachment pulls down your spinal cord, further and further. I had back surgery to release my tethered cord toward the end of 2013.
Herniated Discs can also mean ruptured discs or slipped discs. Your discs can rupture spontaneously, due to pressure or force. Although many people have, most likely, heard of Herniated Discs, it it actually not very common.
Degenerative Discs- In between each pair of vertebra, there is a disc. My discs have changed and degenerated due to genetics, although there are many other causes as well. The process of my discs degenerating, is where the illness name Degenerative Disc Disease comes from. Although wear and tear and degeneration of the discs is somewhat common in some over the age of 60, it is not very common to find it in children and young adults.
(+ Scoliosis, Spinal Sclerosis, and others.)
Fibromyalgia was also an illness that I was diagnosed with in 2013. Fibro is a chronic illness that leaves me with musculoskeletal pain throughout my entire body. The chronic widespread pain is not the only thing that this disease causes. It is a very complicated illness in which, this one disease, causes a slew of many other illnesses and symptoms. The central nervous system, eyes, skin, muscles/joints, stomach, chest, can all be affected.
My diagnosis of Gastroparesis (GP) took a while to get diagnosed! This disease is a motility disorder in the stomach. 'Gastro'=stomach and 'paresis'=paralysis. GP is delayed gastric emptying. This means that food is not properly digested in the stomach. This causes a slew of different symptoms as a result.
A surgical treatment, for my Gastroparesis, I had performed in February was a Gastric Neurostimulator/Pacemaker. This device was surgically placed inside my stomach with leads that are attached to my stomach wall. The pacemaker stimulates the stomach, helping the muscles constrict and relax.
I was officially diagnosed with Benign Intracranial Hypertension/Pseudotumor Cerebri. This means that my body produces too much Cerebral Spinal Fluid (CSF). Therefore, the pressure inside of my skull is too much. The major symptom this causes are headaches, although many other symptoms happen too. The types of headaches associated with this disease are very different from that of the average headache, or migraine. For example, I have had the same exact headache since November 8th 2013. The severity may intense and/or lessen, but it's always there.
In 2014, many members of my care team had a suspicion that I could very possibly have a disease called Mitochondrial Disease (Mito). Mitochondria is in almost every cell inside the body. Producing 90% of the energy your body needs to function. Where there is dysfunction in the mitochondria, your body cannot produce the life-sustaining energy. When less energy is generated within the cell, cell injury and even cell death can follow. If this process is repeated throughout the body, whole systems begin to fail. This is a genetic, progressive, degenerative disease. There is no cure, and only a handful of medications to help with the symptoms. Although, I do not have an "official" diagnosis, I am followed by a Mitochondrial Disease clinic with doctors who specialize in this disease only.
Along with my other lung diseases, (which are all classified as Obstructive lung diseases) it was found that I have also developed chronic Restrictive lung disease. This does not replace my Obstructive lung diseases, but I have this, in addition. With Obstructive lung disease it is difficult to exhale or get air out from the lungs. With Restrictive, it is challenging to inhale or get air into the lungs.
In May, we found out that my Gastroparesis had further progressed, requiring the need for a Nasojejunal (NJ) feeding tube. Through this tube I am fed a formula around the clock (24/7) that allows me to get all the nutrition that I otherwise would not be receiving.
This list contains not all, but only a few of all of the illnesses I have. I have been hospitalized over 100 times. I have faced umpteen amounts of tests, appointments, doctors, ICUs, ER visits, pokes, surgeries/procedures, etc... As my diagnosis list continues to grow and grow, so does my hope that these are all baby steps towards getting relief, finding the right combination of medications and treatment plans, and ultimately a cure. I have faced many challenges and adversities. Though my fight is nowhere near over, I will maintain hope that someday a cure will come. But if it doesn't I will continue to fight every single day. Fight all the wars and the battles no one seems to have a clue about. I'm fighting for the life I deserve. ♥