The FACTS About My Rare Diseases

Just a little 🎤drop . Knowledge bomb .

For my Last  Rare Disease Day content ( Today 😂..  let’s face it ., my life is Rare disease day.  ). I thought I’d share with you a little about the rare diseases I have. 

( and these are not all my diseases. Just the rare ones .   5 diseases i have won’t be mentioned because they aren’t rare ) If you have any questions about them. Comment below! 

And the info is accurate ( to my knowledge. But I’m in a crap ton of pain from the dance, it’s 1:43 am and I’m wired on the caffeine it took to get me through the dance.. so don’t judge me to hard.

To get all “sciencey “ about it 

• UCTD -  Undifferentiated connective tissue disease (UCTD) is a term suggested by LeRoy 30 years ago to denote autoimmune disease that does not meet criteria for established illnesses such as systemic lupus erythematosus, scleroderma, dermatomyositis, Sjogren’s syndrome, vasculitis, or rheumatoid arthritis.
• ( sorce rheumatology adviser) 

So basically you got all the symptoms but none of the confirming blood work.   UCTD IS  a “auto immune party “ that affects your “connective tissue.  ( spoiler alert your whole body is made out of connective tissue ).  Doctors believe this disease causes the majority of my co morbidities. And I personally have symptoms of ALL those diseases listed above , and am on treatments that can be used to treat all those rheumatological diseases.   ( immunosuppressants, NSADs, and Steroids . ) 

UCTD typically effects young females . And 30% of patients will “evolve” and reclassify ( aka they will find the solid diagnosis of what disease is trashing your body ) 

CVID - ( my newest diagnosis)

“* Common variable immune deficiency (CVID) is a disorder that impairs the immune system. People with CVID are highly susceptible to infection from foreign invaders such as bacteria, or more rarely, viruses and often develop recurrent infections, particularly in the lungs, sinuses, and ears. Pneumonia is common in people with CVID. “

( source is the national institute of healths website ) 

So basically my body no longer thinks it’s cool to make immunities .

( immunities are what makes it so you don’t get sick. Hence my pneumonia fest 2020 ) 

If this corona virus goes big.. your ALL invited to my funeral 😝. 

• The IVIG is primarily being used to treat this. But doctors think it could be a big help with the UCTD . 

( IVIG is basically a big beautiful butt kicking bag of medication and other peoples plasma ( I will be posting a vlog all about my first IVIG) 

Crazy Enough 25% of CVID patients have an auto immune disorder.  A common one for patients with CVID to have is ITP ( which is an auto immune disease I also have !)

Gastroparesis.

I don’t need any fancy information or sources here . Because gastroparesis is exactly what it sounds like.

The name literally  means “ Paralyzed stomach “

Typically caused by damage or paralysis of the Vagus nerve 

But I’m one of the lucky souls.

And my Esophagus, Stomach, and Colon have very little to no motility . 

( so they barley move or don’t move at all . ) 

I actually get to have “super fun”  .. and by fun I mean awful tube down your nose testing . To make sure the pneumonia hasn’t been caused by aspirating 

GP for me has caused issues swallowing, digesting , pooping.

Basically the whole process of eating.  

I’m horrible at .

My main symptoms are nausea, vomiting, pain, and bloating. 

My Gastroparesis is believed to be caused by my UCTD . 

But was the reasons I was IV dependent for nutrition for 3 years, had an NJ  that landed me in the hospital for 9 days 

And was told at the Mayo Clinic to “ Enjoy what life and quality of life I had left “

Because they couldn’t find a GI cause.

Steroids have been my #1 life saving treatment .

And I URGE you if your doctors have “ran out of options” to talk about out of the box treatments .

I personally believe gastroparesis is one of the most “shrugged off “ diseases in general.

And medical professionals aren’t grasping onto the fact that SO MANY people are dying from this disease because they aren’t being taken seriously enough.

Optic nerve  Drusen -

To me this disease always sounds like a German dessert.

But it’s not exactly a disease .

More of an abnormality.

Optic disk drusen causes small calcifications to grow in your optic nerve ( they are often referred to as pearls because that is legitly what they look like)

They are diagnosed in  between 1-2 % of the population.  And only about 1% of the population loose their vision from it. 

And guess who is part of that lucky 1% . ( insert hand raise here ) 

When my glaucoma ( which I didn’t know I had ) caused my inter ocular pressure to shoot up in the 40s. ( my goal pressure is around 12)

It shot the pearl right through my optic nerve permanently erasing the bottom half of my vision in my right eye.

ITP -

Idiopathic thrombocytopenic purpura (ITP) may occur when the immune system mistakenly attacks platelets. In children, it may follow a viral infection. In adults, it may be chronic.

( source Mayo Clinic )

It is believed that last year  ( due to my ever growing list of Auto immune issues )

My body decided that platelets ( those cute cells in your blood that make it so your blood clots )

Are no longer in style .

The lowest your platelets should be is 150 thousand. 

And at my lowest they were at 11 thousand 

( anything under 20 thousand puts you In the “danger zone “ meaning your body could just sporadically randomly internally bleed at any moment ) 

One of the main ways people with ITP die is from brain bleeds.

With low platelets one small bonk on the head can turn into a life threatening situation 

My symptoms were severe brusing for no reason.  ( I was bruised so much I looked like a Dalmatian ) Bleeding gums, and crazy fatigue. 

After 4 days at my cancer center,  3 bags of platelets,  and then a week of dethamexizone ( the most brutal steroid I have ever encountered) 

My platelets have been stable.

But my hemotologist told me it’s not a matter of if . But when they will drop again.

So any procedure that has a risk of bleeding .

Any time I bleed for no reasons.

Or the bleeding won’t stop 

Or I bruise to easy.

I have to get a CBC and check my counts.

And last but not least 

A history of DFSP 

Dermatofibrosarcomaprotuberans 

Is a type of cancer that is SO rare it’s litterally nicknamed “ Unicorn Cancer “.  ( for real. Go google the ribbon for it ... it’s Legitly a unicorn )

It’s litterally a 1 in 1 million diagnosis. With no genetic ties. 

But My half sister and I BOTH had this kind of cancer. 

It is a rare type of cancer, a soft tissue sarcoma that develops in the deep layers of skin. It is sometimes described as having tentacles that can grow into surrounding fat, muscle and even bone.

Mine was diagnosed almost 3 years ago . It was found on the right side of my rib cage,  and went through all 7 layers of skin down to the facia .

It was inches away from being in my lungs so I’m INSANELY grateful we took care of it when we did .

Crazy thing is DFSP doesn’t respond to chemo,  but is fairly unaggressive.  Unless it’s not treated right .  My surgeon described it as a “sleeping dog “ .

You do the surgery right. It never wakes up.   But if you wake it up , that “dog “ is going to be highly aggressive . 

My surgeon was one of 5 In the western United States who knows how to properly treat DFSP. SO if you are newly diagnosed I URGE you to drive to your nearest sarcoma center for treatment, I promise it will be worth every once of gas.

The scariest thing after my cancer is that ( as my clinic likes to remind me ) “ Cancer puts you at a higher risk for more cancer,  and I am abnormally talented at growing tumors . 

So there is ALLLL the facts ( I know ) about my rare diseases!

Any questions . Comment below.

Do you know any great resources or charities that deal with these conditions . Comment below.  ( especially ones about CVID . I know nothing about orginizations for this diseases and would honestly love to be a part of one ) 

I hope this opened your eyes to what me and so many others face Daily.

CARE ABOUT RARE . 

And always #smileon🐷