This is Cowden’s Syndrome, with a Lhermitte-disease Disease kicker


My head is spinning.

This month has just exhausted me.

Between the medical coverage fiasco, my medical appointments, healing from the hysterectomy, hoping/wanting to get back to work, etc. etc. – I need a massage.  Or some sushi.  🙂

Here’s the latest:

Endocrinology:  Saw Dr. S last week.  I was supposed to have had a thyroid ultrasound prior to my appointment, but because of said medical coverage problems I had to reschedule that to February.  Not a huge deal to wait.  He likes to watch the teeny, tiny, piece of thyroid tissue that is still remaining in my neck to make sure it doesn’t flip out and begin to grow back.  Can you imagine?  I already had 2 thyroid surgeries.  I’m not here for a 3rd. No thanks.  We also talked about parathyroid hormone, my Vitamin D, holding at my 50,000 IU 3X per month, my TSH, PTEN mutations, and more.  I still haven’t decided which doctor is “supposed” to do the screening labs to watch my liver and kidney functions.  You know, those 2 things really haunt me and I want those 2 babies to be happy and healthy and live long, happy, lives. My previous Endo. (I MISS YOU DR. F!) [I think] used to run all these labs, but you know, I actually don’t know.  I just don’t want anything to fall through the cracks. I have said that before and I will say it again.  I feel such pressure on my shoulders to manage this all.  I KNOW my doctors are great and cautious and conservative and have my best interests at heart and for that I am very grateful. But, I’m not their only patient.  They have tons others.  It’s not “Heather-world” for them, but IT IS FOR ME!  I have to do this.  Because if I don’t, who will?  He wants me to come back in 3 months and then we will go forward.  And, to check my thyroid ultrasound that I have next month, too.

OB/GYN:  This was a follow-up from the hysterectomy 6 weeks ago.  Oh, and also.  THE HOT FLASHES MUST STOP. They must end now.  I am about to jump off a bridge they are so bad. Everywhere. Everyday.  I am not joking.  Whatever you think you know about hot flashes?  YOU ARE WRONG.  Dr. K looked me over, incision looked good (except for a small problem but nothing too major to even write about), and I have to go back to see him next month.  Dr. K was “kinda OK” with starting HRT, but he wanted to talk to the oncologist first.  You know the risk of breast cancer because of Cowden’s Syndrome?  Yeah.  So, he said he’d email Dr. L and then let me know.  What was really neat about the timing of these appointments is that I saw Dr. L the next day.  🙂

Oncology:  I have been on a 6 month cycle of breast MRI/mammogram to check my Dairy Queens for any suspicious activity.  I was due to have the breast MRI in December but since I had surgery I was in the midst of recovery so that blew a hole in this schedule and now we have to make some changes.  Dr. L also does a clinical breast exam every 3 months (ish) in addition to those screenings.  I have no family history of breast cancer but when it comes to a genetic condition like Cowden’s Syndrome, does that even matter?  I don’t think so.  She and I talked about HRT, the hot flashes, how much I want to jump off a building, the fact I am not sleeping, the fact I put off sleep as late as possible because I know I’m going to wake up with a hot flash, my anxiety rising (due to all things Cowden’s Syndrome and Lhermitte-duclos Disease), scheduling the breast MRI, the recovery from the hysterectomy, the benefits of having had the surgery, whether or not the ovaries should have stayed or gone (go, in my case), and there was some more stuff but I cannot remember it all right now.  That happens sometimes.  So much information in each appointment.  But, I suppose that is why I’m so lucky I go so often to see my medical team (I’m only being mildly sarcastic here.  There is truth in that statement.)  She also wants me to come back in a month so that we can review the breast MRI.

(Next week) Neurology:  Sometimes I feel that neurology is that forgotten stepchild in all of this.  There is so much going on every month (or there about) with CS but having a brain tumor (2!) isn’t something to sneeze at.  Must remind myself often ganliocytoma is slow-growing and benign.  But a brain tumor is a brain tumor.  You can’t get around that.  And while I do my best to put on my game face, things are different.  I’m different.  You just can’t get around that, either.  I don’t know what Dr. H will tell me next week.  We don’t yet have a set scanning schedule of my head (every 6 months, year, etc.) so I don’t know.  There’s not enough data (my words) on my Lhermitte-duclos Disease that I would think it would be good to scan me (often) to see what type of growth (if any), (I mean none!) so that records somewhere in Rare Disease land can be updated.  You know?  I found some data from Orphanet that said in November 2013 there were 220 cases of Lhermitte-duclos Disease.  I will ask Dr. H next week if I am 1 of that 220.

Someone asked me at church today if I was working.

Cowden’s Syndrome and Lhermitte-duclos Disease is my work.  I work to manage all of this, while finding peace and balance in my life.  Some days it’s hard to manage all of this.  Other days, it’s less hard (although that is usually when I eat sushi for lunch or dinner.)  🙂


10 thoughts on “This is Cowden’s Syndrome, with a Lhermitte-disease Disease kicker

  1. Hang in there! I know there really isn’t anything I can say that hasn’t already been said but I’m sending good thoughts and you should eat lots of Sushi 🙂

  2. You are such an inspiration Heather! I am just astounded by all you have gone through since I first met you. I wish I lived closer to be a bigger part of your life, but just know that I check in on you often and have you in my prayers. Sending big hugs across the miles! {{{}}}

  3. Yet, amongst all of these wonderful things(being sarcastic lol) we go through with CS and LDD, we have to remember what a blessing it is to be able to wake up each day and be a light of hope to others! love ya girl! Hang in there! We all who have CS and LDD make it our work but just don’t let it work you!! :):) Will have to email you later on going to a genetic counselor.

    • HEY! What’s going on with you? How are you? Had you not seen geneticist yet since your dx? Hope it went well. By the way, did I ask you if you’d be willing to do a guest post on my blog, please?

    • Thanks so much. Glad to know there are a few more of us “1 in 200,000” who get it and understand. I know that you, and others, have walked this road before me and are survivors. If you can do it – I can too!

  4. Me to!!! I agree with everyone. You are an inspiration. Ditto Hang in there! Hope you did get some sushi.

    • Tami, thank you so much for your kind words. I’m so glad to have connected with you and that you have a blog so that I can follow your journey with Cowden’s Syndrome. I think you are an inspiration also – and guess what? I got me some sushi yesterday! 🙂

Let's chat!

Fill in your details below or click an icon to log in: Logo

You are commenting using your account. Log Out /  Change )

Google+ photo

You are commenting using your Google+ account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )


Connecting to %s