Vascular malformation – beatingcowdens

Hurry up… and waiting rooms…

Published on May 6, 2015May 6, 2015 by beatingcowdens1 Comment

The early hour usually means I would be at work. Instead, I am sitting on the 10th floor, in the waiting room. Again.

Right now my beautiful girl in undergoing surgery number 13, the 6th on her knee. The goal is to stop the blood that has been leaking into her knee and causing degeneration and chronic pain. This time there is a new doctor at the helm, an orthopedist from Long Island. Our vascular guy, the leader of surgeries one through 5 on that same right knee has taken a back seat. He is on standby. We are sitting.

Waiting.

Alone with our thoughts. Not always my favorite place.

These last few weeks have been a whirlwind. When we met the orthopedic surgeon in February, and Meg said May was a good time for surgery, she had certainly calculated her plan.

Over the last few weeks, we have been busy packing in as much good stuff as we could fit.

The school play, her first production, was April 30, and May 1. It was such a thrill to watch the spirited enthusiasm from my daughter and all the other children. She is hooked.
And while drama practice was going on 5 days a week, she was still making three swim practices a week, working hard to finish out strong. As a result she received the “Coaches Award” at the team dinner last week, and she was moved “up” a level. She was able to practice with her new group starting Monday, so she got in 2 practices before this procedure will derail her for a bit.

She also almost finished the CYO Swim season. Making 7 out of 8 meets (the last one is May 9th) she swam hard and strong one day each weekend as well.

In the midst of all this, she managed to balance her time well and was inducted into Arista, the National Honor Society.

All the while we looked for spring clothes, and shoes (in 2 different sizes) for my beautiful 5 foot 5 young woman.

I know there are people who are busier. I know multiple kids jostles the world. But, I also know I am proud.

She ran on raw nerve. She pushed and pushed in ways that would have taxed a healthy child. And she made it. Sunday’s morning swim meet was a no – go, but I am just so impressed she accomplished all she did.

And just for fun she broke her first pair of glasses yesterday. Not bad for a kid whose had them since K. New pair already on…

And I’m impressed I got her there.

We like to convince ourselves that we are just like everyone else. But the reality is that this genetic disorder messes with our bodies and our minds.

As I said to the nurse this morning when she wondered why Meg was a little edgy, “It’s not you. You are just an ACCUMULATION of her life. Step by step. Poke by poke. Surgery by surgery.”

I think she got it. Maybe. As the woman in the bed next door in preop – clearly in her 60s, said she had never had surgery before.

So very hard to believe.

I’ll update later. I’m waiting. Cheering my kid on as she continues to be BEATINGCOWDENS.

Keeping focus

Published on January 4, 2015January 4, 2015 by beatingcowdens1 Comment

It’s 2015 and the first surgery of the year has been scheduled. February 18th. This year it’s my turn to have surgery over the February break. It seems each year one of us takes a turn.

So while my friends are returning to school tomorrow, counting the days to the February week, I am not quite as excited.

It’s only a vein. A large, painful, varicose vein to be stripped out of my right leg. Large enough that it requires an operating room. But it’s far from the first. My veins are crap. This is almost certainly connected to the PTEN mutation that caused our Cowden’s Syndrome. My veins seem to be a generation less severe than my girl’s AVM.

I had the first one stripped in my early 20s. Before I knew of Cowden’s. Before there was Meghan. The next 2 were done in the years that led into my early 30s. Then 4 years ago I had 5 done through an in office procedure at NYU. There they were just “closed” and not removed.

Maybe they are sped along by a life that requires so many hours on my feet. Maybe genetics have sealed their fate already. Not a single doctor I have seen has ever claimed to know for sure. And that’s better. I hate when they guess.

I sometimes wonder when I will run out. I wonder how many they can close off or take out before…

They just keep telling me the ones they are taking out are already broken. Backflowing. Not doing their job anyway.

Doesn’t keep me from wondering why they keep breaking. At 41 I do wonder how this bodes for the future. But, it’s one of the things I have consciously chosen not to research too much. Because I can’t control it.

I have tried compression stockings, and I wear them when the pain and pulsing gets really bad. But, I hate them. And a religious stint of wearing them a few years back saved me nothing, and caused me to be very angry. All the time.

They are not nearly this glamorous. Trust me.

So for now, it’s the last thing I feel before I close my eyes at night. It is the first thing I feel when I open them in the morning. It is the reason I often keep moving, because the resting makes me more aware of them.

The pain, the pulsing, the aching is maddening. But it certainly reminds you you’re alive. And, as cliché as it sounds – it reminds you that it could be worse. Much worse.

Our vascular issues in this house, (although Meghan’s still terrify me,) have been confined to lower extremities. And I flash to our friends in Australia whose 20-year-old fights vascular malformations in her brain. Over and over and over, with a resilience in mother and daughter I marvel at.

Perspective. It’s all about perspective.

Meghan has 2 appointments coming. One is a follow-up for her vascular surgery in November. The other is with her endocrinologist to try to tease out the continuously unbalanced thyroid hormone levels. I have three in February – before the surgery.

It’ll be a busy winter.

So glad we chose to distract ourselves from ourselves with the “Jeans for Rare Genes” fundraiser. Always good to keep it focused somewhere else.

https://www.eventbrite.com/e/beating-cowdens-first-annual-jeans-for-rare-genes-fundraiser-tickets-14130024283

Good lessons that I teach my daughter. Good lessons I will remind myself repeatedly when I am tempted to rant about another stint in the operating room.

Better me than my girl. And it could always be worse.

Maybe we’ll have a different countdown to the February break. Maybe we will count down until February 15th – the date we hope to raise enough money to make a difference in some lives. The rest of the week… we’ll skip that for now.

Vascular Road Maps and other Cowden’s adventures…

Published on October 3, 2014 by beatingcowdens3 Comments

I sometimes hate the saying that things work out the way they are supposed to. Sometimes I just don’t buy it. But, then there are other times.

I have suffered with varicose veins since I was in my early 20s. I had 2 stripped surgically before I was 30 I had 5 VNUS closure procedures in 2011.

Over the years I have tried compression stockings, switching to comfortable shoes, losing almost 40 pounds, and the veins just keep on bulging.

It gets to the point that the throbbing in my legs is the last thing I feel before I close my eyes, and the first thing I feel when I wake up in the morning. During the day I get distracted. And when I get home at night to take off my shoes and switch to pajamas, the size of my legs is noticeably larger. The swelling is evident. The blue veins bulge.

Although this is far more than a cosmetic issue, the ugliness and the irony doesn’t help. Last summer I bought shorts. In a size 2.

This is not my leg - but a close comparison... — This is not my leg – but a close comparison…

This summer I barely ever wore a pair, and despite having a pool at home, I never put a bathing suit on.

As Meghan has battled with her AVM (Arteriovenous Malformation) in her right knee since around 2009, I have learned more about the vascular malformations that can be associated with the PTEN mutation that causes Cowden’s Syndrome. It seems the connection is documented, but small sample sizes make it hard to study the specifics of this rare disease and all its variations in detail. See there are differences even within the PTEN mutations that link us all. Some are germline mutations, some are frameshift, some are missense, others nonsense. AND, there are further specific differences too complicated for me to process. It seems, in layman’s terms, that each mutation manifests slightly differently, although there are major criteria that link us together.

And, it seems that the frameshift mutation Meghan inherited from me, is likely at the root of our vascular problems.

Another symptom I have dealt with for years, explained, but not gone after this PTEN diagnosis.

I had an appointment with a highly recommended vascular surgeon on Tuesday. I expected what I have come to expect.

There was the sonogram. The attempt at settling out the roadmap of veins, so many of which have already been treated. It is no easy task, and I leave them at a disadvantage because I have had my vascular work done in several different facilities. (You can read that as difficult to please.) Though for the first time I was told that the deep veins in my left calf are so dilated that they are at great risk for blood clotting. The blood sits stagnant there. That apparently is not the most intense of my issues.

Then there was the visit with the doctor. A young, bright eyed, refreshingly competent doctor who was very interested in my Cowden’s Syndrome, and my previous abdominal surgeries.

He asked if things got worse with the vein in my leg after the tubal ligation in 2011.

“You mean the hysterectomy?”

“No, that was the following year.” He was reading from a sheet I had given him. He was right.

I guess somehow I had blocked the tubal ligation which had become unnecessary less than 12 months later when Cowden’s and a uterine polyp (post breast cancer) necessitated a full hysterectomy.

“I’m not sure, why?”

“I am wondering what is causing these veins to turn. And I have to look at every possibility.” As he places his hand on my abdomen.

“How long had that pulsing been there?”

“Um… I don’t know. (Feeling incredibly dumb for ignoring my body) Why?”

“Well, I won’t even consider surgery without some major tests. First I want a full abdominal CT to check for vascular malformations.”

Now truth be told I wasn’t shocked to hear this. I had a nagging, behind the ear voice telling me to get that pulsing checked out. But I had met with a vascular surgeon in July and that turned train wreck. So I was a bit delayed. I also I guess didn’t really like the fact that he could feel the pulsing too. I thought, well I thought that was just mine….

So I left with a script for the CT, waiting for authorization, and a script for blood to assess my kidney’s capability to handle the CT dye.

And as I tried to process that, I thought of everything. I ran the gamut from aneurysm to AVM.

As I washed my hair the next morning (I do my best thinking in the shower) I had one more thought.

MY SPLEEN!

I had never mentioned my spleen. The hamartomas/lymphangiomas/masses on my spleen, the largest of which are 4 cm round. I was told they are vascular. I have been watching them with periodic MRIs and I was told as long as they stayed stable I could keep my spleen.

I really hope they aren’t misbehaving.

I like my spleen.

I also like that this doctor cares enough to check everything out first.

Pain in the butt? Absolutely. Life-changing? Maybe.

The other doctor was ready to take the vein out in the office with no prior testing. This guy told me I need an ER and tons of pretesting. You know what? At least he takes things seriously.

So now I wait. For authorization. For testing. For a whole host of inconvenient to schedules to processes.

And fortunately there isn’t much time to waste on worry.

Life is busy. We squeeze what we need to into the crevices.

We can’t let Cowden’s Syndrome distract us from this life that needs living.

This one is a favorite of a dear internet friend :-) — This one is a favorite of a dear internet friend 🙂

Do penguins have knees?

Published on November 4, 2013November 4, 2013 by beatingcowdensLeave a comment

I can credit someone else’s Facebook post for even allowing that random wondering to slip into my head. But it has served as a distraction… so I am grateful.

It’s hard for me when I need to choose my words carefully. I usually just lay it all on the line and that’s how I keep it together. Except when your heart is heavy because of matters that just need to be private, that makes it extra hard. So that is why I haven’t been posting much. But without my writing the voices just stay in my head, and then…

But my heart is full for so many reasons, and some I can share with you. Blessed by my consenting 10 year old, as long as I don’t disclose anything embarrassing – to educate the world about “beatingcowdens.”

The headaches have been around on and off for a while. So long that I don’t actually remember. It sounds awful that I as a mom could say that, but it’s true.

I remember the pediatrician saying to me that I should take her to a neurologist because he kept hearing me mention headaches. I remember being overwhelmed by too many doctors. I remember last year blaming the prescription change on her glasses. I remember blaming chelation. I remember blaming allergies…

But the headache hasn’t quit. It’s been weeks now.

It varies with intensity. We are trying to get her to understand and use a pain scale to get some consistency.

But pain is such a personal thing. It’s just not easy. We can never exactly know the pain of another because every body perceives pain differently.

What I do know is that there has been a headache to some extent for over a month and that’s too long.

What pushed me into action was last Monday night. Homework was finished, and I was ready to bring her to swim practice- the place she loves more than anything. And she told me no.

She said she didn’t feel right. She said she wasn’t strong enough. So I let it go and kept her home. But THAT didn’t feel right to me.

Then there was the day that she was waiting in my classroom for the school day to start and she said, “There it is mom! Feel that pulsing?” As she put my hand on the side of her head I got queasy. We all have pulsing in our heads to some degree, but once you have dealt with a vascular malformation – or a few – the pulsing takes you to a new mind numbing level of anxiety.

And when the teacher gave her a shell and she held it to both ears, and said , “I can’t hear it the same in my left ear…” And then there is the ringing that comes and goes…

So tomorrow we head back to Manhattan to visit a neurologist. A little later than the pediatrician would have liked, but we are going. And with every deep fiber of my soul I hope with all my heart that he tells me my girl has the worst fall allergies in the world. And in a few weeks it will all be just perfect.

That’s the story that will get me through the night.