Skip to main content

Rare Disease Day 2017

Today is Rare Disease Day!  This day creates awareness for all that live with rare diseases.  I have multiple rare diseases.  First, I had Cushing's disease, which is considered a rare disease because it affects a very small portion of the population.  I have a feeling that Cushing's is not actually a rare disease, because many people go undiagnosed.  I also have adrenal insufficiency, which is like Addison's disease without the autoimmune component.  Living with a rare disease is very isolating for many people.  These diseases don't have names like "cancer", that are recognizable, and your friends and family have probably not ever heard of them, and people don't understand how debilitating they can be.

I always get a little excited to see all the posts on social media from my Cushing's community on Rare Disease Day or Cushing's Awareness day (which is in April, on Harvey Cushing's birthday). It is nice to see Facebook filled with information about Cushing's, everyone trying to bring awareness.  I know for myself, before I was diagnosed, people didn't see that I was sick, they said that I was fat, or overweight or obese.  Unfortunately, that led to a delay in my diagnosis, which is common among Cushing's patients.

Cushing's symptoms include, but are not limited to:

Weight gain, specifically central obesity
Thinning arms and legs, due to muscle loss
Severe stretch marks, called striae
Moon face
Susceptibility to illness
Poor wound healing, or delayed healing of wounds
Kidney stones
Acne
Buffalo Hump
Emotional lability/depression/anxiety
Menstrual irregularity or amenorrhea in women


To find out more about Cushing's, or rare diseases in general, please take a look at the following links.





 Global Genes






Comments

Popular posts from this blog

Talk About the Sh*t you Don't Want to Talk About

I haven't updated this blog in a very long time.  I actually deleted a ton of posts while I was applying for social security disability. I posted about Cushing's Awareness day earlier this week on facebook, so I guess I'm in a sharing mood.

Anyway, for anyone who even reads this, I was watching a documentary on Netflix about a teenager with anorexia and mental illness who found meaning in her life through yoga. (It's called I Am Maris). It's kind of the reason for this post.

To start - let's go back to June 2018. My grandmother died.  She lived a wonderful long life, but it was especially hard on me.  She was the reason I got out of bed every day, my best friend, and so much more. I actually don't remember how I got through most of the summer.

In the span of two weeks at the end of August, my mom turned 60, we went on a family vacation to the vineyard, my best friend got married, and I wanted to kill myself.  Yeah, you read that right. The day after return…

The Challenges of Getting a Diagnosis

I have been asked about this so many times, and talk about it a lot, whenever someone asks me about Cushing's.  So many people have the same experience - KNOWING you have Cushing's, and seeing 5, 10, 20, or more doctors over the course of many years before you officially have a diagnosis.  I would say this is one of the most common links I have with other "Cushies".  We all fought for a diagnosis, heard we were just fat and depressed, waited with hope after every test, until a day came when one test came back high, or a brain MRI showed a tumor in the pituitary gland.

I think the reason I haven't written about it is because it's one of the hardest things to sit down and spend time on.  It's painful, and of course, I can't help but wonder what my life might be like today if I was diagnosed sooner.  Would I have needed an adrenalectomy?  Or for that matter, a second pituitary surgery? Would I have as many health issues after Cushing's?  It's ha…

Cushing's Awareness Challenge - Day 23 - The Diagnosis and Treatment Process of Cushing's Disease

For many people with Cushing's it takes months, years, or even decades before finally getting a diagnosis and help.  For me, it was 5 years from when I thought I had Cushing's until my endocrinologist told me I did indeed, have Cushing's Disease.

Once you read about Cushing's and think it sounds just like you, here's what you will have to do to get rid of the excess ACTH or Cortisol source

1. Find a reputable endocrinologist that other people with Cushing's have had good luck with.  You can find a list on Cushing's Help HERE.  You can also ask someone that has been diagnosed on the Cushing's Help boards or on the Facebook group which doctors they see.

2. Make and appointment, and be patient!  Sometimes the endocrinologist has to do multiple tests over a period of time, and those results can take a while to come back.  Some tests to expect are 24 hr urine free cortisol tests, midnight salivary tests, dexamethasone suppression tests, or random/midnight se…