Fight Song

During the summer of 2016, I found myself at a new level of low. I was struggling to get out of bed every morning, found myself moving slower than usual, and noticed my body breaking down in a way I hadn’t witnessed before. I constantly had a viral infection of some sort, cough/cold, chronic congestion, terrible fevers and giant ulcers on my tonsils. I had been previously diagnosed with PFAPA, which is an autoimmune disorder that causes periodic fevers, aphthous stomatitis, pharyngitis and adenitis. Whenever I would feel a flare up coming on, I would immediately take 60mg of Prednisone, cross my fingers and hope it would work. The majority of the time, I would just have to wait out the flare up period, but every once in a great while the prednisone would kick in and get to fighting. Anyway, back to my story…

After some research with my Dad, who is by far my best doctor, I decided to see what tests we could run to get to the bottom of my feeling terrible. I found an article on NCBI which indicated a T-Cell count should be done on a patient with recurrent Epstein Barr Virus. I brought this to my dad’s attention and he agreed and ordered the T-Cell count. I went to the lab the next day and had my blood drawn, we couldn’t have imagined what would the results would show. All of my T-Cells and B-Cells are perfect, they’re within range and as far as we know, they work great! As we continued down the page, we noticed a strange cell number that was severely deficient and not just slightly low, but half of the lowest in range number. I looked up the cell and found that those specific class of cells are called NK Cells, or Natural Killer Cells.

Natural Killer Cells are in charge of attacking and killing virus’ and cancer cells. In essence, T-Cells and B-Cells are the soldiers and NK Cells are the military police. They find the intruder and destroy it, that’s what they’re ‘trained’ to do. With NKD, I am at a much higher risk for breast cancer and Leukemia, as well as a number of other malignancies.

I immediately scheduled an appointment with a Hematologist/Oncologist and prepared my journal of medical records and medical history, this was September 2016.  I had two visits with the Dr. H who informed me that NK Cell Deficiency is extremely rare and that we would have to have three consecutive deficient tests to actually diagnose me with NKD. During my second visit about a month after my first, Dr. H confirmed that my second test was once again severely deficient and we would need another test after 6 weeks. I asked about the dangers of NKD and what I should expect since my number were leading me to that specific diagnosis. “if it’s a true NKD, you have about 5-7 years.” I left my appointment feeling devastated and decided in that moment I would just live my life, put everything but the wedding, on the back burner and deal with it at a later time.

Fast forward seven months and the infections have been constant, I mean, like no days of relief. I decided to have another T-Cell count done which showed my numbers had steadily decreased once again. I immediately started the referral process to Stanford and UCSF and within two days heard from UCSF. They scheduled me within two days and I spent over two hours with my new immunologist and found that she was very knowledgeable in NKD. She answered all of our questions, of course I dragged my mom with me to my appointment, as she has been my biggest advocate. We concluded the appointment with hope and a ton of blood work.IMG_2005

A week later my number were in and had once again decreased, but this time to a scary number I didn’t know was possible. I went from a forty-nine, to a twenty-two; my body was terminating my NK cells faster than we had expected. Two weeks later, we got in another result that was equally as devastating. Any and all NK cells I do have left, don’t work, at all. In that moment I realized my time was precious and I would try and make the most of my life.

This past Thursday (6/22) I had a follow up with Dr. A, who informed my mom and I, that there is currently no treatment option for Classic Natural Killer Cell Deficiency. Dr. A informed me that she was not giving up on me though, she was going to continue to follow me in hopes that there will be a clinical trial or study available aimed at patients with CNKD.

Thanks for reading!

Xoxo, Julie

Heyyy!

Hi everyone! Welcome to my little slice of heaven, where I can share what’s on my heart, in my mind and most important, all of my chronic/terminal illnesses! My name is Julianne, although everyone refers to me as Julie, well other than my mother when I’m in trouble. I am recently married to a wonderful man, work full time as a high risk patient liaison/coordinator and absolutely love the life I have. I am a dog mom to three perfect fur babes; Grayson Valor, who is a 5 year old German Shepherd, Hudson Remington is a 7 month old Labradoodle (he looks more lab than poodle) and Bubba, a senior Pitbull mix.

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I was recently diagnosed with a rare Primary Immunodeficiency that is considered terminal because of the ghastly effect it has on the body. I also have a number of congenital diseases, a couple deficiencies that make my body move a little slower and keep me inactive, and a complex  neurological/vascular disorder.

Needless to say, I’m a walking medical journal. I hope you enjoy reading about my home, my life, and all of my medical complexities.

Xoxo, Julie

 

 

Scars to your beautiful.

This weekend started out at UCSF Mount Zion campus, having an echocardiogram to see if I have Pulmonary Hypertension. My tech was amazing and then it was time for my florist/bridesmaid/best friend duty to begin. My best friend, Pickle, got married yesterday and it was the most perfect California day, with sunny blue skies and a faint breeze. She wore the most beautiful lace, tea length dress, with a silk bow and pearl buttons. I had the privilege of arranging all flowers for this special occasion and it wouldn’t have been possible without my mom or K.  The nuptials of Mr. & Mrs. Pickle made me forget that I am sick, even if just for a couple of hours. Their love is steadfast and something I’ve been lucky to witness, since the beginning.

On totally different note… I became very ill on Friday. I complained to K that my ear was hurting, but kind of put everything on the back burner because of the exciting weekend ahead. On Saturday, while walking to Starbucks with my friend S, I mentioned that I wasn’t feeling well and once again that my ear was hurting. It wasn’t until later than evening that I checked out my throat and found the culprit of my ear pain. I have a dime sized apthous ulcer on the inside of my mouth, adjacent to my right ear, I also have one on the side of my tongue. These ulcers cause immense pain, pain that demands to be felt. I can’t eat, drink, or even talk without pain shooting throughout my entire body. These apthous ulcers are caused from my body attacking itself, they are usually accompanied by an uncontrolled fever, which I have had for six days.

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This is what terminal illness looks like. Its ugly and raw. Its life sucking. It’s living daily life at a 12 pain level. It humbles you and reminds you that you are not superwoman.

Issues

The last month has been filled with doctors appointments, tests and everyday life. I promise I haven’t fallen off the face of the earth, I just haven’t had much time or energy to write. I had a very intense MRA/MRI scan done at the end of August that showed some scattered white spots, but to our relief they were caused by my severe migraines and nothing more serious. Dr. M also started me on Cymbalta 30mg for my fibromyalgia (that he diagnosed me with), chronic nerve pain, and also to hopefully prevent my migraines. I’ve noticed a slight improvement in my all over body pain, but zero relief with my migraines. I have an appointment with the Headache Clinic at UCSF in the coming months and have been diligently journaling my daily headache issues.

Now, on to my breathing and the never ending defiance of my lungs. I am scheduled to see an excellent pulmonologist next week. I completed my Pulmonary Function Tests yesterday and to say that they were easy, would be a big, fat lie. I haven’t ever been so exhausted following a test in my entire life. This wretched cough that has become a daily pain in the ass, nearly knocks me off of my feet when it rears it’s ugly head at different times during the day. It’s a painful and terrible, sounding something like a fog horn. When I start in with a bad coughing spell, I get really dizzy, short of breath and almost to the point of passing out. It feels like I have stuff in my chest to cough up, but nothing ever produces from all of the hacking. Anyone who has witnessed the cough, knows it can be kind of scary.

The last month has brought a lot of illness, as I’ve had some sort of ailment, every single day. I have found myself staying on my couch most weekends, unable to do more than just sit and attempt to breath. The central valley has seen it’s fair share forrest fires this summer and because of that, the sky has rained ash

more times than not. I’ve been confined to my home on some days when the air is so bad, only being allowed to go outside for less than a minute and with a mask. K and I haven’t been able to go on bike rides or just wander. Going shopping with my mom is more of a task than fun, as we have to take many breaks while strolling through a store like Target.

With all of these crappy feelings, I’ve also had moments of happiness. My original weight loss patient has worked with me for a year now and has lost ninety pounds, through exercise and a total lifestyle change! My best friend is getting married in just under a month and I’ve been really preoccupied with flowers for her marriage. My mom and I visited the Walt Disney Family Museum while in San Francisco for one of my appointments; it’s a magical place. On that same trip, we saw a replica Mutts Cutts van from Dumb & Dumber. We were in Little Italy picking up the most delicious tiramisu, because my appetite has been all over the place and espresso infused pastry seemed like a great idea at night.

I will always continue to say that I do not want pitty or sympathy from anyone encountering these posts, as I’ve heard from a number of people that what I write makes them sad. That is not my intention. The purpose of this blog is to give you all a small insight into the life of twenty eight year old terminally ill woman. I have a social life (sometimes), I work a full time job and attempt to live a somewhat normal lifestyle. I have bills (BIG BIG bills), responsibilities and struggles just like someone else my age, the only difference being that my life will be cut extremely short. I don’t belive for one second that my life will be void or not meant to teach the world that ‘normal’ looking people have real illnesses and that it’s not all made up.

I appreciate all of the continued support and apologize for not writing sooner, it’s just felt like a chore and that is not what I want this to become. Love you all.

Feeling this.

I’ve sat down to write this blog at least five separate times and don’t really know what to write or how to get it all down. I guess I’m having a bit of block right now, so this won’t be put together well, I apologize in advance.

!). While I was in the emergency room two weeks ago, I had a chest CT and chest x-ray done… Both exams showed some changes from my previous scans done in October. The ER doctor originally explained that I had a pretty severe case of pleurisy, but once the final report was faxed to my dad’s office, it revealed something completely different. Sometime during the last ten months I have come down with Interstitial Lung Disease. Both scans done on 8/7 show that the interstitium is very prominent, either from my recent bout with bronchitis, my lack of NK cells, or a nice combination of both. I have an appointment with an ILD pulmonary specialist at the end of September and will have a lung function test here quite soon.

My body has not been able to fight off this virus I’ve had for over a month, and last night I felt like I was suffocating. I couldn’t stop coughing and then in return couldn’t catch my breath. My mom took me to our office for a nebulizer treatment, which didn’t help much since my O2 is fine (96-97), but I have decreased breath sounds in both lungs. This morning isn’t much better, I’m still hacking and don’t feel great, so my couch is where you can find me.

2). I was seen by my new Neurologist on Wednesday and he was great. Dr. M thoroughly reviewed my complex medical history and then went over all of my brain scans from four years ago. He was perplexed by my ability to maintain a pretty “normal” lifestyle with all of the medical issues I have and the extreme neurological symptoms I deal with. He explained that I did not need surgery at the moment, but that doesn’t mean I won’t need it in the future, as he was basing everything off of scans from 2013.  He ordered new scans, starting from my chest to my head, just to insure my arteries and vessels are doing their jobs since the arteries in my brain are a little backwards and absent. Dr. M is also changing my medication, attempting to prophylactically treat my migraines and chronic body pain. I have been referred to the headache clinic at UCSF for my chronic migraines and have an appointment later this year, but Dr. M will continue to follow my case.

It went as well as we could’ve hoped for and I’ve been extremely satisfied with every doctor at UCSF so far. I currently have two outstanding referrals with two different specialists and have a feeling that is just the start of all of my appointments at UCSF and will be heading back up to San Francisco later this week for my MRA/MRI and we’re hoping to complete my lung function test that day too.

3). The last couple of days have been very trying, emotionally. I have felt really defeated by this lack of feeling great and not being able to really breathe. I’ve found myself crying at times I shouldn’t and wish I could just stop these feelings. This isn’t me having a pity party or feeling sorry for myself, this is me realizing I have actual limitations that I have to follow because I end up doing harm when I don’t listen to my body. I’m on prednisone for the foreseeable future and that makes me feel even worse.

Say you won’t let go.

This blog took a lot of time to write, and it might be a little all over the place but I had to insure I took everyone’s feelings into consideration, but this is about as raw as it gets.

You don’t ever realize how lonely a terminal diagnosis can make you feel until you hear those words, “five to seven years”. Terminal illness is lonely, crowded, quiet and loud all combined together. There are people constantly asking what they can do, how they can help and promising you companionship, but in reality none of it helps. See, I don’t know what can be done, I don’t know how they can help and I am too proud of person to ever ask for help. Some days I don’t want to be bothered by anyone, including K and my mom, but in that same sense I wish I had a million people around me.

I’ve come to realize that one of two things happen when you share your diagnosis; people either guarantee their support and surround you or they withdraw, afraid of what you have and what might come of it. You can’t blame the people who withdraw, it’s only instinctual to protect yourself from pain, pain caused by mourning a loss that you know is inevitable or actual physical pain from an illness. That’s the thing though, anything and everything I have is not contagious, I could have a 104 temperature and coughing and still would not be contagious to anyone. Don’t believe me? My parents, nor my husband have ever caught one cold/infection from me while I’m out for the count.

During a conversation last night, it was mentioned that my motivation and great attitude make my conditions seem unbelievable. As much as I try to understand that, I also know that every single day is a real struggle, especially as of late. After Monday night’s emergency room visit, my breathing has not gotten any better and I’m still on prednisone. I’ve developed a cough that is sickening just to hear and after my latest chest CT results, it looks like I have another disease to add to my list of chronic illnesses, because hell, what’s one more at this rate. Despite all of my conditions, yesterday I pushed myself to an unhealthy level of work… I steam cleaned my carpets, moved furniture, and dusted our entire house (it’s a two-story).

After cleaning, I decided making a grocery list while lying on my freshly clean carpet would be a great idea, what I didn’t take into consideration was the fact that once I’m down, I have to get back up. I was on the floor for about an hour before my breathing got pretty bad and I realized every time I would try to push myself up, I would start hyperventilating. I had text a friend saying I was on the floor and making light of it, J knew for some reason that I was actually in need of help and came right over. Her husband, my sister-husband, pulled me up and put me on the couch. J stayed with me until I K was supposed to be home, but his appointment took longer than expected and I wanted to get my grocery shopping done. So I put on some real clothes, gathered my bags and put on my respiratory mask.

We made our way through Vons at a slow pace, as every step hurt and I found myself with labored breathing. The awkward stares from people passing by made shopping a little weird, but I’m used to it by now. Walking each aisle so I don’t forget anything, I came to one aisle and had to stop and take a breaking, leaning against a bunch of cleaning products. We finished our shopping trip and J had to load the majority of the groceries because once again my body just isn’t up to working how it’s made to. I feel helpless and worthless. During these last six days, I’ve made dinner maybe twice, not only because I was fighting a virus, but also because it was just impossible; I can’t help but feel like I’m failing as a wife. I have a hard, swollen belly from the steroids I’m on I sometimes can’t stand for more than a couple minutes. I go days without washing my hair, not because I’m lazy but because every single hair follicle hurts and washing it only makes it worse. There are days only baggy shirts and chonies are all that are comfortable because the feeling of cloth on my skin feels like a thousand knives, when my feet are so swollen that even flip flops make walking hurt. What’s even more difficult, I have to rely on K and mom for more than I should, but it’s my only choice.

Those are things most don’t see or realize because I put on a brave face and keep going. Here’s what I’ll say to those who ask what they can do or how they can help. Just do. Don’t ask, because like I mentioned, I’m too proud of person to ask for help. If you want to come visit, just come over, I don’t usually move from the couch and if I do, it’s at a slow pace. If you want to bring food, do it. I don’t have any food restrictions, other than no salt. If all you can do is pray, pray as much as possible, but please don’t ask what can help and how… just do.

Love Myself.

I hate to admit this but today I had a slight melt down over the fact that I don’t fit into any of my clothes at the moment. After a high dose of prednisone for ten days, everything is too tight and uncomfortable. I fit perfectly fine in work clothes, I mean scrubs are pretty forgiving and hide my swollen belly. My clothes that I wear on the weekends, or out to a date with my husband definitely don’t hide anything. I sat in my closet crying for a solid five minutes before my husband got home from work today, frustrated beyond belief that the only article of clothing that was “comfortable” (not really, but I’ll just say that) was a graphic tee that’s not cute and a pair of jeans that are considered my old jeans…. The ones I wore when I was 180 pounds.

Here’s the thing, I love myself and my body. I have a pretty decent figure and although I am not fit, skinny or toned in any way, I definitely rock my body like I am. Today was just not one of those days where I appreciated the fluff though. As I tried on five different pairs of jeans and seven different tops, I felt like a giant turd. Earlier in the week I stepped on the scale at work, something I never do because I don’t care, and noticed I was up about seven to eight pounds from my usual fluctuating weight. It’s not that I’m eating anymore or any less but rather the toll that the medication takes on my body. It makes me fluffy and jiggly, and definitely not in a cute Jiggle Puff kind of way.

As I stood in the bathroom straightening my hair before dinner tonight I couldn’t help but tear up at the sight of my swollen self in the mirror. K said he didn’t notice any difference and that I’m always beautiful to him, but doesn’t he have to say that? That’s kind of part of his job, right… I hurriedly put on a face of makeup and although K was trying not to rush me we were running late for dinner. While K was driving across town, I sent J a text saying, “We’re only on S & V, I kind of had a meltdown.” It’s embarrassing to admit that to people other than K and my mom, as I wear a brave face in public, even around my closest friends.

Tomorrow is another day. Hopefully filled with happiness and zero moments of sadness about tight jeans and shirts. I appreciate every single one of my readers and please know that you all are a part of my life now. Your continued support, love and prayers are appreciated more than most of you realize. One of my stories will be published on The Mighty within the next couple weeks and will share it once it’s on the site!

Xoxo