Sharing with a colleague about Rare Disease Day and how I’m involved


Ask me about Cowden Syndrome & Lhermitte-duclos Disease

Rare Disease Day 2015

If you would have told me July 28, 2011 (the day after the first craniotomy) that on this day I would be working out with over 40 people and coordinated a week-long Rare Disease Day event – I would have told you to stuff it.  There’s no way I ever could have imagined today…even on my best day after brain surgery!  This was my first event but I tell ya – I’m hooked!  Look out 2016, hopeforheather is coming for ya!

Together, with the help of the exercise studio I work out at and the support and generosity of friends, neighbors, and family we raised $434 for Rare Disease Awareness! The money will be donated to  Global Genes Project and PTEN Foundation.

There’s so much running around in my mind that I don’t know where to begin to write.  A humble thank you will have to suffice for now.

“If I Had Known Back Then Who I Know Now: Not So Rare After All”

Hi guys!  I am super excited to share this with you.  And, it pretty much sums up why I still write on this blog and why I  share my story on Social Media.  I believe in the power of networking!

Blogging refresher

I have been a slacker lately.  That’s not for lack of needing to write, or for lack of blog topics, for sure.  I don’t actually know why I have struggled getting to my computer.  I do know that I am feeling very overwhelmed lately, more than I remember in quite a while.  Had a brain scan last month, an EKG, and just last week a GI and endocrinology appointment.

Here’s what I need to write about today:

At the appointments last week I was told that I have a vermis (about the brain scan).  My first thought is, “What the hell is a vermis?”  This appointment wasn’t with my neurologist so this doctor was very clear to me that I needed to speak with the neuro.  (Obvi).  Anyway, I did a bit of research on what a vermis is, but couldn’t make sense of it so let it go.  I thought, “Maybe that’s why I am having vertigo and balance problems?  Is vermis scar tissue?  If so, that’d make sense, I think.”  It was just a mess, as always, in my head (no pun intended.  HA)

To be honest, this brain stuff usually trumps EVERY OTHER MEDICAL ISSUE of the day, but I was able to put it aside to focus on other things, and in another post I will write about the Global Genes Rare Patient Advocacy Summit that I attended.

But today I spoke with Dr. D (neurologist) and he said everything “looked fine” and blah blah blah “follow up”, etc.  I do see him and the neurosurgeon in a few months, and we chatted a bit about my balance and gait problems.  Now, these are problems TO ME.  I don’t know if anyone else gives a rip about them, but to ME IT IS A PROBLEM.  And the kicker?  There may not be a DANG THING that anyone can do to help me with it.  It may just be LIFE.  Again.  More life.  More change.  More adjustment.  More coping of NEW stuff that I CANNOT CONTROL OR CHANGE.  All these things happening to me that I can’t help or fix!  And, when I asked him about the vermis he explained that it’s normal anatomy of the cerebellum. It appears that the 2nd brain tumor is on/in/at/located there.

Oh crap.

I forget sometimes that I have another brain tumor, besides the (partial) one that’s still remaining.

2 brain tumors and I can’t get approved for Disability.

I can’t find a job.

I can’t do what I once did.

I have no money.

Now, before you interject here, I know I need to turn this around (I caught it right away, as soon as I started typing “I can’t” and I must write a post with the things I “can do”.)

But not today.  Not now.  Not tomorrow.  Just a word:



Fun Fact Friday 2/28/14 (late)

I am super late in writing my Fun Fact Friday because of this nasty cold. UGH. Alla-Seltzer plus, DayQuil, et al is only scratching the surface. The Fun Fact Friday for 2/28 is that day was Rare Disease Day. You can read all about it here and here. The following are more things I wanted to share with you about Rare Disease Day.

1). This

2). I was at the doctor on Friday (my Primary) and she wears the denim jeans pin on her name badge that I gave her ~ she’s cool like that. 🙂 I told her it was Rare Disease Day – and I guess due to my cold, she thought I said, “Wear Disease Day”. BAHA.

3). I did a lot of tweeting about RDD and connected with many who have rare diseases. It’s nice to know I’m not alone. Did you know there are about 7000 rare diseases?

This is another amazing organization bringing rare out of obscurity. I heart them; and I hope you will heart them too.

Girl with frustration and fear

I don’t know about you, but (sometimes) when bad things happen to me my first instinct is to think, “Who’s fault is this?  Who is to blame?  Who did this to me?  Why?  Why did this happen?”  These aren’t pleasant thoughts (obviously), but I am human and imperfect and I have a lot on my plate to deal with.  And, these are the thoughts I struggled with all day yesterday.  So, when I see that my thoughts are going a bit wonky I know that is the best time for me to sit and write.

Yesterday I found out some less-than-good news.  I don’t have Medicaid.

The transition from the local medical coverage I had to Medicaid was supposed to be seamless.  This previous coverage carried me through 2 brain surgeries and countless ultrasounds and even a colonoscopy, for this I am very thankful.  I knew that with Obamacare starting (or whatever you choose to call it) there would be problems for me.  Many problems.  That is why I chose to have the hysterectomy last month, under the previous coverage.  Because I was freaking out about what January 2014 was going to be like.

Cut to January 2014.  Here I am.  I am living it.

Around October of last year I received some paperwork that said I was denied Medicaid coverage.  When I called about it the case worker told me it was just a formality.  Of course I was denied because I had the other coverage.  “Don’t worry Heather.  All is OK.  It will be fine.” I was assured.  Silly me.  I believed them.

As I looked at my planner for January (there are 5 appointments with my “team” this month) it dawned on me that I had not received the new insurance card yet.  I knew that I needed this card before the appointments and procedure (and before I see the surgeon again to release me back to work), so I called Medicaid Customer Service yesterday.  After waiting on hold for 1 hour and 48 minutes, I talked to a guy who told me the stellar news:

I did not have any medical coverage.

You know that paperwork I received in October?  Yeah.

Do you realize the weight of that statement?  Do you realize how scary this is for me?  I have a freaking brain tumor and genetic condition.  2 rare diseases.  There’s nothing for me as of today.  Am I now a statistic? One of those people who will lose everything (not that I have anything to lose besides my DVD’s and a few of my Dooney & Bourke bags), but COME ON!  This is serious!  This isn’t funny and this is not a joke. This is real life. This is my life.  What am I supposed to do with this?!


Pic from the Global Genes Patient Summit 2013

As I talked with the Customer Service guy (and choked back tears) he created a live application for me (I didn’t quite understand it all. He just mentioned yesterday’s date a lot and that things would be retroactive to the first of the month if I get approved.)  Did you catch that though?  IF I get approved.  IF.  There’s a lot behind the word “IF”.


conjunction \ˈif, əf\

—used to talk about the result or effect of something that may happen or be true

So.  Affordable Care Act?  Thought you couldn’t risk being denied?  I do not understand it all.  And yesterday, my mind was spinning.  I felt sick.  My neurosurgeon appointment; oncologist appointment; surgeon appointment; endocrinology appointment; and I had a thyroid ultrasound scheduled for Friday but I did end up rescheduling that to February.  On top of all that, I was due for my breast MRI in December but had to delay that due to the hysterectomy.

Whew.  My heart is starting to beat faster even as I type this today.  😦  I don’t do uncomfortable well and right now I am very uncomfortable with all these unknowns.

As this was all happening yesterday and I did all I could to keep my thoughts calm and positive, I kept thinking to myself, “OK, self.  You need to do all you can right now.  Exhaust all your possible resources in your favor.”  I called my surgeon and my primary doctor and left messages for them.  I will ask them if they will write a letter on my behalf that I will send with the further application that will come by mail in a few days.  I don’t know if it will make any difference but who knows.  Maybe it will.  I can hope.  Sometimes, my hope falters though.  Evidently here is an object lesson for me to put hope into practice.

My view of the Tribute to Champions of Hope weekend [a little late]


This is the centerpiece from the dinner Saturday evening. Just breathtaking. I told someone I felt like I was at the wedding reception of Gene Simmons.


I missed the memo that this was “Blue” tie optional (hah, it’s a play on words for Black Tie). So, since I didn’t bring anything blue (for genes/jeans, get it?) this was the best I could do. It was win-win, because my nails needed something!


Such an amazing event. See the blue book in the corner? I’m in that book!


A view from lunch during the Patient Summit Friday afternoon.


My hotel room


A virtual contact of mine has a “motto”, if you will, that I noticed a while back and it really struck me.  More so than ever this last weekend at the Global Genes Patient Summit and Gala.  Beatingcowdens has a tagline that reads:  “Rare.  Invisible.  Real.”

Being surrounded by ahhhh-mazing people who have created foundations and have utterly blazed trails in their rare disease community was huge for me…

[And I have my blog.] 

I felt a bit like a very small goldfish in the Pacific Ocean.

So I decided I needed my own tagline for here and for my Twitter account.  I’m not sure if that’s the right word or not.  But, that’s my word for it.  And not that my tagline is on the same scale as rare disease foundations mind you…but it’s my start.  It’s something.  It’s mine.

A few months ago I said to a family member who was going through their own health scare, “There’s a lot to be said for hope and miracles.  I’m proof of that.”  Coming through the other side WELL of a 13 hour brain surgery is a miracle indeed!

But more than that, and I didn’t really think about it until this weekend.  I have the word “hope” in my blog title.  When I created this blog over 2 years ago I was just diagnosed with a brain tumor.  I didn’t comprehend the magnitude of malignant and benign, and I sure as heck didn’t even KNOW of rare disease anything.  But I knew I needed hope and I wanted others to hope for me.  Hence, the title was born.  🙂

When I got home yesterday I decided to change the tagline to, “There’s a lot to be said for hope and miracles.”  And it’s on my Twitter bio too.  You know, sometimes I don’t feel very hopeful, I’ll be very honest here.  But I know when those times are around I have to remind myself of the miracles that are all around me (namely Nephews #1 and #2!) and pray the hopelessness passes.

And it usually does.  It might not be as fast as I want – but it does.