More questions than answers…

Published on January 1, 2018January 1, 2018 by beatingcowdens4 Comments

I haven’t written regularly and it is wearing on me. I keep putting things in front, waiting to be ready, to be finished so I can focus. Except life is really busy. And it keeps getting busier. So, while I’m really dating myself…

While I will never ever possess even a fraction of Ferris Bueller’s 1980s spontaneity, I am constantly working on this reminder. I’m a work in progress.

Today we stopped. We sat together. We watched a movie. We enjoyed each other. It was fun. I need to remember to do it more often.

I find myself struggling to keep the story together, while respecting the privacy (she does preread every post before they publish) of my teenager, and maintaining the authenticity of this journey we are on together.

I always try to be positive, and to put a positive spin on everything. It’s how I cope. It’s how I press on. But, it is the same reason it’s been so hard to write.

The cold hard reality is that even when we are conscious of our many blessings, sometimes having a rare disease, THIS rare disease, really just sucks. And, as much as you work to not have it define you, it becomes so intertwined with who you are, that it can become difficult to tease the two apart. In the 6 years since our diagnoses she’s, gone from 3rd to 9th grade. Those are some pretty formative years.

The struggle to stand apart from the disease that takes so much of your time and energy is real. As a teen the level of self-awareness is naturally high. The fear of judgment is one we can all remember. The desire to stand alone, stand apart, and fit in, while not compromising yourself is one I remember as if it were yesterday.

My girl is strong. She is physically strong, as she recovers from countless surgeries, and fights her way back into the pool time and time again. She endures physical therapy. She navigates countless flights of stairs, and is constantly challenging herself to do more.

She is mentally strong. She has a work ethic that is impressive, and grades to back it up. She reads. She questions. She thinks.

She is morally strong. She has ethics that often impress me, and she will not step away from who she is, even for a moment.

She is emotionally strong. She refuses to stay down, no matter what life tosses at her. She handles stress, disappointment, and struggle, with a poise many adults I know are lacking.

She is strong. I know she is strong. Anyone lucky enough to meet her knows she is strong.

She also suffers with PTSD, and severe anxiety.

I see no conflict between her being strong, and suffering.

I watch the age of diagnosis for PTEN mutations getting younger. I see in this blessing and curse. It is a wonderful thing to have the mechanism by which we can survey and protect. It is also a difficult thing for an intelligent child to have to shoulder.

Clearly, her PTSD is PTEN related. There are only so many surgeries, hospital stays, IVs, blood draws, MRIs and other medical dramas one can face before memories are haunting.

The anxiety- we’re working on it.

I have some theories. And I will press until every one of them is shot down, or validated. Her history indicates that she has always had some metabolic issues. Some were first addressed by an alternative medicine doctor beginning when she was 2. I watched things resolve that I thought could never get better.

When her thyroid was removed in 5th grade, just shy of 4 years ago. I knew then it was not a good time. I also knew it was not our choice, as the recent biopsy result with 19 nodules, 5 of them suspicious for malignancy, prompted the endocrinologist at the major cancer center to force the total removal.

Fortunately, it was a benign thyroid. However, that thyroid, no longer in her, now needed to be replaced synthetically.

I was 20 when I lost half of my thyroid. That was hard. This, well, it was just unimaginable. Because, anyone who understates the importance of the thyroid for every single function in the body, in my opinion is under-informed. The endocrinologists are trained to look for one number on a piece of paper and make every decision based off of that number. Except, we are people. We are individuals. We are not numbers.

It took just shy of 2 years before even that number, the TSH (Thyroid Stimulating Hormone – which by definition should not IMO be the “go to” number in someone with NO thyroid to stimulate) stabilized. It also required a change of endocrinologists to get one to listen to me practically scream that her body was not converting the synthetic T4 to T3. I may not have been a good chemistry student, and I may not fully understand WHY she does not process synthetic anything very well, but I confidently know it to be true. This new endocrinologist was willing to give a low dose of T3 a try alongside the T4. Finally the “magic” number stabilized.

Looking back I believe I was lulled into a false sense of security.

There was so much going on those years. Middle school is tough for every student. Factor in 7 surgeries in 3 years and its easy to see where things got complicated.

Looking back again, maybe I should have seen or thought… but there really was no time.

Excessive menstrual bleeding – nonstop for months, led us to an adolescent gynecologist. That led us to a pelvic ultrasound, which subsequently led to a finding of “abnormally thickened uterine lining.” The D&C pathology showed cellular irregularities, highly unlikely in her then 12 year old body. But, we live as the “highly unlikely.”

Even as we were nudged towards hormones, I should have seen. But, it’s easier to see in reverse.

The need for hormones to thin the uterine lining was non-negotiable I was told. The IUD was an unacceptable solution to both of us. So, she was given progesterone.

The medication is pure evil, I am convinced. She handed me the pill bottle one morning and told me to get rid of it. She was done with it. I shudder at what could have become of things if she did not possess the inner strength I spoke of earlier. Her level of self-awareness is eerie at times. I am grateful.

So, we went a while with nothing. And the body began to act up again. This summer we agreed to try a birth control pill. And, still, several changes later, things are not where they should be.

Most doctors want to make all sorts of sweeping generalizations. They want to put everyone in a neat box. Life is messy. Rare disease life is RARE by definition. When you are 1 in 250,000 you just don’t fit in the box.

I first noticed the anxiety increasing in middle school.

“Middle school is hard for everyone…”

The PTSD diagnosis finally came in May of this year. But, I knew even then it wasn’t the whole picture.

This summer we almost cancelled Disney. The pain from her periods had become intolerable, totally crippling her. I called the gynecologist in desperation. She was glad to hear me finally agree to the birth control pill. I was desperate and hesitant, the progesterone nightmare was not lost on me. It was the classic “rock and a hard place” story.

High School started out a little tumultuous. The school she thought she’d attend underwent major changes over the summer. She ended up relocating a few days into the school year. But, she loves the new school. The kids are nice. She has more good teachers this semester than in 3 years of middle school. The high school swim team was strong. So why was the anxiety quickly melting into full scale panic attacks?

She works so hard to keep it all together. She tries to keep it hidden. She is so aware.

The panic settled back into general anxiety, but that anxiety spread to just about everything.

In December I adjusted my work day through FMLA to be able to pick her up at the end of every school day. We spent a lot of time working through so much.

And somewhere in the middle of working through all of this, as people were so quick to offer medication for anxiety, I had some thoughts.

Why had the gynecologist and the endocrinologist NEVER spoken about interactions between their respective medications when both were prescribing hormones?

Simply because her lab tests for thyroid function remain in the laboratory range, there was never a question. No one noticed this actual human being in front of me is struggling.

Why are we so quick to write off the unusual as impossible?

Why won’t we try anything to keep a bright, articulate, in touch 14 year old OFF as many medications as possible?

What if her T4 to T3 conversion, which was always a problem, was masked and not solved by adding a synthetic T3? What if this anxiety has been building for all these years, and exploded at the insult of additional, yet necessary synthetic hormones? What if the answer is harder than adding more medication? What if it will take research, theories, and some “out of the box” thinking?

How do I convince them she’s worth it?

While my PTEN Facebook friends are sending me article links, I am composing my thoughts before writing a more organized, clinical version of these questions to her doctors.

All of this while seemingly insignificant head congestion is cramping her style. I am not sure exactly where it fits in.

The ENT ordered an MRI of the brain to check the sinuses. Turns out the sinuses are clear. Except there was an incidental finding of a brain lesion 9.5mm of undetermined significance. The new neurologist is confident its not a problem, but we’ll have a follow up MRI on February 20th.

In the mean time – no one will touch the congestion other than to tell her it’s “anxiety.”

She deserves better.

So, we will press on.

One year ends and another begins. We’ve grown, we’ve learned, we’ve laughed, we’ve cried. Yet still there are more questions than answers.

I have a feeling that’s pretty much how it will be.

This is life

#beatingcowdens

Good to Have Goals…

Published on February 12, 2015 by beatingcowdens2 Comments

And every time I sit down to write I get distracted. Forgive my attention issues. There seems to be too much to attend to at once – and I have issues.

I didn’t want to go today. I didn’t. But I had to. Cause it’s time. It’s actually way past time to address the chronic, throbbing, aching in my legs. I saw a doctor last summer when I was near the end of my rope. That was a mess, which ended with me quite sure that a doctor with a staff that obnoxious would never be operating on me.

And, maybe it was for the better. Because I never felt quite right about him anyway. So I pulled myself together and I went to another doctor. A second opinion. This one was worried about an abdominal aneurysm, which thankfully was not the case, but at least he paid some attention. “You need a CT scan,” he said. “I need to make sure nothing vascular is wrong in your abdomen triggering all these veins to go bad. ‘ (I’ve had 7 addressed so far.)

I explained that I should only have CT scans when absolutely necessary. I told him about the radiation risk, which is especially dangerous for those of us with a PTEN mutation when cells can misbehave and develop into tumors of all sorts with ridiculous frequency – especially when provoked. I even explained I was allergic to CT contrast dye.

I was sent for the scan – premedicated for the allergy. Left only to pray that the radiation minded its own business. And the report came, and there were unsettling omissions – like checking the box that my ovaries and uterus (gone now since May 2012) were doing fine, and ignoring the large tumors being carefully watched on my spleen, and the cyst on my kidney. I was bothered. The doctor called to go over the report with me but didn’t have my chart and couldn’t answer my questions. I had the report amended. I tried to find someone else to read the disk. I thought I had struck gold in November when a doctor took an interest in our case, but that – like all other things – was not to be. So I waited a few more months. When January came and I was pretty sure Meghan would not be using the February week for surgery, I called to schedule mine. It was time to get the vein removed – starting with the right one. Triage.

I asked if I should see the doctor again since it had been a few months. I was told no, and given a date for the surgery.

Today was Pre Admission Testing at the Hospital. I think I’d enjoy getting my hand stuck in a door more than that. It is a mess of people who know very little asking the same questions over and over when they don’t know the answer. Instead of Pre testing, perhaps they should call it CYA – a way to prove to everyone you were healthy before they did whatever you needed.

Stop all your over the counter medications today.

Why?

Because some of them thin blood.

Which ones?

I don’t know – but they tell us to have you stop all of them.

My probiotic thins blood?

I just have to tell you to stop them all.

We were moving along until I read the consent form. “Left leg.”

Um… right leg…

At first she questioned me. Then she picked up the phone to question the doctor. The answer came with a new consent form and a request for me to see the doctor. Tomorrow between 9 and 2. Um, no. How about Tuesday? That I can do. Cause I LOVE spending my entire vacation – every time – in a doctor’s office of some type.

And as I was leaving she said, “You forgot your chest X-ray.”

Insert speech about radiation and Cowden’s here. As well as, why would I need a chest X-ray if I am not sick and my lungs are clear?

Right. You can get your x-ray down the hall.

No one asked for a supervisor. No one checked in on anything. This woman undoubtedly knew nothing of my condition, only told me my procedure would be cancelled if I didn’t go. For a hot second I did wonder if that wasn’t a better idea. But, there was a kid to get home to, and a dance she wanted to get to, and so many reasons to run away, and so many reasons it has to get done. But, in the end the pain in the legs drove me down the hall. Where I took another, albeit small, hit of radiation to the spot where my breasts that were removed harboring early stage breast cancer once lived. But, for good measure they put a cape on my abdomen. To protect the uterus and ovaries THAT AREN’T THERE!

I left angry. Sad. Mad. Frustrated. And grateful.

Grateful at least that the bungling was being practiced on me and not Meghan.

Next Thursday the 19th. It’s a minor procedure. But, wow. I think I need some prayers.

And them Friday the 20th it’s off to the orthopedist for Meghan

You see the MRI she had January 22nd – that I battled to have read until February 2nd- showed a decent size residual AVM in the knee. It’s not gone. In reality, its not much smaller than it was. Perhaps a bit less angry, without as intense of a blood flow, but yet still 2 x 1 cm embedded in the meniscus, and aggravating all sorts of other things.

And just for fun this MRI showed evidence of problems in the knee itself. Too much messing around with loose blood flow for too long. There is some deterioration and its time for an orthopedic surgeon, the chief at a Long Island Children’s hospital to take a look.

I didn’t write the week I was ready to string up the vascular surgeon for not getting back to me. I thought it better to say nothing, because I could find NOTHING nice to say that week. Now, I am calmer. And we need him. So I breathe deeply. And I told his PA in my calmest angry voice, that no matter how busy they get, they need not forget there are humans, with families and real pains, and anxieties on the other end of those CD images.

In reality it doesn’t matter, because I suspect there is no good solution. They offered us another embolization. She recovers poorly from them. And truth be told, they aren’t working. And since insanity is defined as doing the same thing over and over expecting a different result – we decided to hold off a bit.

Plus, there is the whole endocrine thing to deal with. Like the TSH level that again doubled in 6 weeks on a higher dose of synthroid. And a kid who is functioning with numbers that would level me. So the doctor said, “I can’t explain it.” And he won’t prescribe an alternative medication. But he acknowledged the idea of insanity, and raising her synthroid again with no plan is definitely insanity. So we talked about T4 (Synthroid) and how she is at the upper dosing for her weight. And then we talked about how its the body’s job to change T4 into T3 so it can be used. So, I asked if it was possible that her blood levels of T4 were there, but her body was flubbing the conversion, which it has done before. If that was the case, that would explain her symptoms. So, we added some T3 to her existing dose of T4. And then she gets to wait 6 weeks again for a chance she may feel a but human.

Thankfully we’ve chosen to surround ourselves with positive distractions.

Thankfully 163 people are coming on Sunday to the Jeans for Rare Genes fundraiser, benefiting the PTEN foundation and the Global Genes Project.

Fortunately, my girl had influenced lots of people, and motivated them to raise awareness and support her favorite charities.

Fortunately, we have places to look to besides ourselves.

As I sit here with the seating chart to my right, and raffle prices to be typed on my left, I am grateful that there is a project. I am humbled by my girl and her determination to be “normal,” and a powerful advocate all at the same time.

It will all work out. It’s got to.

We’ve got things to do…

We are BEATINGCOWDENS!

Snow Boots

Published on June 12, 2014 by beatingcowdens7 Comments

The winter boots are still in the closet.

It’s June 12th.

Actually Meghan’s room has a basket of winter boots that are not only off-season, but are too small for her.

It’s June 12th, and that is definitely a new record for me.

In my old life clothes got changed systematically in April, and early October. Jackets got washed, shoes got put away.

That was my old life. I don’t remember it much.

I don’t really have a big closet. The spring shoes are upstairs in the hallway. All over the floor. I’ve been getting one pair at a time as I need them, but if I don’t hurry and make the switch soon winter shoes will take over my bedroom floor.

Thankfully, Mother Nature seems confused about the season. That is buying me some time.

In my old life, nothing was really on the floor – ever.

We went to the doctor today. Shocking news really, I know.

We went to the doctor today in hopes of replacing the endocrinologist with someone more open-minded, and “outside the box.”

EPIC FAIL.

What we got instead was a closed box, closed-minded,”I won’t take on your kid, so stay where you are” doctor, in a really bad suit. (And I’m not much about fashion – so you know it was a REALLY bad suit.)

I had lots of time to look at her, and the suit while I used my hand to keep my mouth from spilling out my actual thoughts and embarrassing my daughter.

I brought the 3 page synopsis of tests, hospitalizations, and medications.

I brought the 3 INCH binder full of lab tests and pathology reports.

I brought the CD of the neck sonogram.

She glanced at her most recent blood work. She told me her TSH was too high. She told me she needed more Synthroid. She told me her current team was just fine. Then she told me twice they were better suited to treat a Cowden’s Syndrome patient than she. Feel like a leper much?

I asked all sorts of questions. I asked about T3, and potential problems with synthetic absorption. I reminded her that in addition to PTEN she has an MTHFR mutation which impacts her ability to process B12. I asked if there could be anything else she has trouble processing. (Hint Hint… synthetic thyroid hormone?)

“You’re very smart,” she tells me. “You know a lot,” she says. Yet, she deflects my questions like a goalie with a hockey puck.

News flash. I don’t need stroking – just answers.

But I watch my tongue. And I watch my tone, because my daughter is watching my every move, my body language, my attitude. She is using my response to gauge whether she needs to be uptight.

I asked what was the upper limit for synthroid. I was told there was none. I was told that the dose would just continue to be increased. I was told she would likely reach .200 mcg. I expressed concern. I was told not to worry. The body only absorbs a percentage of the synthetics. Um, that would be the point of my worry. She doesn’t have a good history of secreting junk.

I got a lesson on the pituitary and the up and down regulation of TSH. I was told when to dose the medicine. I reminded her I have been on thyroid replacement for 27 years.

She asked me if she had answered all my questions. In my old life I might have politely said, “yes.” But, this is not my old life. I smiled, shook her hand, and said “No, actually you didn’t, but I don’t think you know the answers.” Then we left.

In my old life things were neater, and more orderly in every aspect. Sometimes I miss the order. But not for long. There is nothing orderly about this kid, except her behavior (98% of the time,) and I am learning to embrace the chaos.

She woke this morning feeling like real crap. Exhausted from swim practice (she made it almost through) and fifth grade trip yesterday. She hurts. She is mellow. She has fun with the kids, but she’s not herself.

Maybe it will just take time, but hours and weeks and months of childhood seem to be ticking away.

I pushed her today to start making dates with friends for the summer. Her friend’s parents must think I am weird.

It’s as important, or MORE important to plan pay time as it is to plan doctor’s appointments – for so many reasons. And since we have so many appointments, I want to start with the friend time – NOW.

We live in the middle of New York City. One would think finding pediatric endocrinology in the mood for a challenge would be much simpler than this. Instead I am left to return to the surgeon on Monday, so he can validate himself by telling me he doesn’t feel anything in her neck. And then, back to see the resident of her endocrinologist in July. (The actual doctor takes off February, July and August – so he has yet to see her since the surgery.)

Life is not ours to plan. But, we have to try to schedule the fun stuff before the days get away.

We RSVP while holding our breath.

There is more “One day at a time…” than I have ever known.

Maybe there will be some time to get those snow boots away. In the mean time, if you do stop by- don’t judge the hallway. Or the closet. Or the dog fur.

I took a walk yesterday, and another one today. I listened to music. It’s a slow process, but I am working on my emotional health.

It seems to be the only thing I can control.

I am working on those foundation stones for Meghan’s bridge.

And in the mean time, if you happen to need any snow boots – I can get them for you in a hurry. I know exactly where they are.

Passing time….

Published on May 9, 2014 by beatingcowdens6 Comments

So here we sit. Again. For the second time post thyroidectomy, we are in the hospital. The girl doesn’t feel well. She just doesn’t. End of story. But, not too many people seem ready to listen until she’s in a full on physical crisis. Even then sometimes the numbers are frighteningly low. Yesterday she knew. She NEVER tells me to stay home from work. She KNEW. And my pediatrician heard it in my voice. She was admitted soon after he saw her. He wanted it to be the flu. In some ways I did too. A little Tamiflu and some rest. Buts she’s negative for flu. No real surprise. Too simple a diagnosis for my girl. Since her surgery in February, her TSH (Thyroid Stimulating Hormone) which is supposed to rest somewhere between 4. and 4.0 has been lingering well over 10, despite numerous medication adjustments. The TSH is supposed to be down regulated when the synthetic thyroid hormone takes the place of the T4 and T3. Enough thyroid hormone and the TSH decreases. Not enough and it increases causing hypo (under active) thyroid symptoms which can range from bone crushing fatigue, to generally feeling unwell and a whole host of issues in between. He medication has been adjusted upward with no effect – several times. I know it takes time. I barely remember my own battle with thyroid hormones over 20 years ago. The veterans of this surgery tell me 6 months, a year… I get it. I do. But then there is the reality of watching your kid feel crappy every day. The reality of watching her FIGHT with all her might to do the normal things others take so easily for granted. And then I get impatient. To complicate things it may not just be the thyroid hormones keeping us hopping. That “lymph node” turned “salivary gland” is now back to a lymph node in the neck. We are awaiting the ultrasound that I feel should have been done with her appointment last Monday. And there is a fever. She never gets fever. Not really. And yesterday it was 102. Today around 100. No answer why. Not even the White Blood Cell Count gave a clear indicator. And the reflux. Painful. Like fire. Lack of desire to eat much of anything leads to weakness. And the throat clearing. Reflux? or lymph node? or something totally different? So we temporarily stopped the celebrex to try to solve the GI issues. The medical equivalent of robbing Peter to pay Paul. The joint pain – managed for now – is rearing its head. And why does a 10-year-old, with no gall bladder and a week of the worst reflux of her life – with no dietary changes – begin vomiting bile? Maybe just maybe we will meet up with a decent GI. Girls can hope. So I sit. We sit. Waiting for answers to questions. Waiting for answers to more questions than we will ever get. But we are hopeful. Anxious. At least right this minute the worst part of being here is passing the time with the stupid IV.