As I rest my head tonight I hear the slow restful breathing of my husband and my beautiful 10 year old. Today we swam. Today we had her hair done at the boutique. Today we wore fancy dresses. Today we laughed and hugged and lived. Today was not about challenges that lie imminent. Today was about laughing. Today was about magic. Today was about Meghan. So when the woman waved her “pixie dust” I will confess to fighting back tears. “Bippidi Boppidi Boo! May all of this princess’s wishes come true!” Something so silly – yet with ridiculous deep meaning to us. Love my princess!
There was a moment yesterday when I thought seriously about dropping my cell phone into the tank with the Manatees and walking away. It had rung twice in the last 30 minutes. The first brought news that my husband (yes, the not PTEN affected one) needed to go back in for further testing of some skin issues. The second call was to put the car claim on hold. They won’t arbitrate until the field tech services the car. I do hope he brings his magic wand. This was supposed to be vacation. And a respite from the cares and worries I had left miles behind. My mother graciously agreed- again, to live at my house and care for my dogs, even though she is in dire need of a rest herself. As I felt my blood pressure escalate, I held on to my phone. I thought slowly and deeply. I turned the phone off and tossed it in my bag. We had waited too long for this… This morning I woke up early all by myself. I rode to the Magic Kingdom alone. I spdone some time readjusting my head. I rode Space Mountain alone. Haven’t been near that ride since 2000. But heck, if I can Beat Cowdens- I can do anything. So I did. And the day continued just fine as we prepared for the anxiously anticipated archery lesson. There were times when things really stunk over the last few weeks, we would talk about this archery lesson. And then, as it will often do in Florida in August- it rained. It was one of those bone soaking thunder and lightning storms that come out of nowhere at exactly the wrong time. And just like that archery was cancelled. Quite aware that I am supposed to be the grown up in such things- I did the mature thing. I cried. Tears if frustration for weather out of our control. For circumstances that couldn’t be changes, and for yet another disappointment for a child who has had way more than her fair share. But, as God so frequentdie does, He heard my desperation. Something that could seem so silly if you didn’t know the back story- yet another blow to our shaken cores. And then. The supervisor, and one if the instructors, pulled us into a back room and for 30 minutes gave Meghsn a 1:1 lesson of the basics of archery. She held the bow- just never shot it. And, maybe with that soft tissue tumor it was for the best. Grateful we headed back to meet my very dear childhood friend and her family for dinner. The conversation was light. Relaxed and fun. The kids were excellent, and we ended the night at the Main Street Electrical parade. Blessings abundant. Maybe we will appreciate them even more because we have to look extra to find them. Yet- they are always there. I decided to keep my cell phone. But now I turn it off for large parts of the day. I figure the manatees wouldn’t like Candy Crush anyway.
Those are the words that come to mind every time someone asks me to describe Cowden’s Syndrome.
Most people, even most doctors, understandably, have never heard of it before.
With an occurrence of 1 in 200,000 that is not a surprise.
There is always hope…
What is a surprise is on days like today, where the sun shines a bit brighter. The traffic is a little lighter. Daddy is home on vacation. And, we met a doctor who had heard of Cowden’s, understands it, and is compassionate, likable, and easy to talk to. Yep, imagine that? A POSITIVE experience!! 🙂
We saw an NYU affiliated hand surgeon today. I am sure God heard the chorus of prayers storming Heaven for an answer for this kid, and today He delivered.
We were early for our appointment and waited in an uncrowded waiting room, while a pleasant receptionist organized the paperwork.
We were taken promptly at our scheduled time. We met with a friendly, competent PA. She had the hands Xrayed. The doctor was in the room 10 minutes later and immediately had Meghan on his side when he started to talk about two of her favorite things – Disney and swimming.
He examined her hand. He easily recognized the soft tissue tumor that is typical in Cowden’s Syndrome. He told her stories of another young boy he treats with a rare disease who grows bone instead of tissue. He validated her. He was confident. He drew a picture, and explained why that tumor was causing pain.
With every word he spoke her smile grew. The hope went back into her eyes. She waited anxiously for him to tell her he was going to take it out.
She almost leaped up and cheered.
August 20th in the early morning hours. my then 10 year old will prepare for her 10th surgery.
That’s how you know a kid is at her wits end. When surgery is an exciting option.
He told her it wasn’t going to be better right away. He asked if the PT from the letter we showed him (you know – the PT who had it right ALL ALONG! 🙂 could rehab her hand. I told him I was quite sure she could, but I would ask. (Actually – I have no DOUBT she can do anything. Dr. Jill NEVER gives up on Meghan!)
He said the pain may be worse for a bit after he “messes around” in there, but that gradually she will feel the pain lift and the range of motion return. I wanted to hug him.
All it takes is someone who “Gets it.”
We all want to be validated. As adults we often struggle to have our concerns made valid by those we love. When you have a rare disease, where the symptoms are often invisible, you struggle to be taken seriously. People are quick to pass judgement.
She looks fine, why can’t she walk? She must be lazy.
She is complaining again? Attention seeking,
So when you are just trying to have your voice heard, at the same time that you are trying to find your voice -life can feel extra challenging.
Cowden’s Syndrome is a struggle. We are buoyed by the fact that we have each other. I have Meghan as my inspiration, and she has me as her advocate.
I will NEVER give up. She will continue to get the care she needs. She will continue to see doctors who validate her. She will continue to inform an under informed public with her “cards.”
She is my heart and soul, my sunshine. She deserves nothing less.
We can’t change the “Rare.” The “Invisible” or the “Real.” But we can open the eyes and hearts and minds of more and more people every day. Ours is one of so many other Rare Diseases. We are grateful. We are blessed. Even through our pain we have gratitude for our blessings. And we will move forward with our mission of awareness.
And this morning for an added surprise a screwdriver left on the driver’s seat poked me in the bottom!
The car isn’t fixed.
We had to take it back to wait for the “Field Tech” to have a look.
Apparently the “Tech Line” suggestions weren’t helpful, so in their infinite wisdom, they one by one took out parts, swapped them with new ones, then put the old ones back in when the problem wasn’t fixed.
10 days in service and I left with the same broken car, with the same parts as when I dropped it off.
Except that a few “extra” parts were left on my seat and my console.
While we will make an appointment some time next week to leave the car for the “Field Tech,” I had to laugh in spite of myself at the irony of the whole thing.
We have spent the summer at doctors. Some doctors were routine, some were tests and follow ups for things that were not “ok.” While there are many things that will leave me unsettled long after the summer has passed, the most disconcerting right now is the pain in the wrist and the hand.
A three hour MRI, a phone consult with the vascular surgeon, a phone consult with the rheumatologist, a local orthopedist, and a local hand surgeon – NONE of whom have a clue WHY after 8 WEEKS there is significant pain flexing the wrist, or holding a pencil, or performing any number of basic tasks.
Tomorrow we will head to the hand surgeon in Manhattan, with hopes that he can process the “extra” bump on the palm of her hand, and understand its relationship to the pain, and offer us a viable solution.
Too hopeful? Maybe. But, if I give up hope, where will we end up?
Raw with fatigue. Frustrated by “extra parts” and the people who don’t seem to know what to do with them…
Which ones do we put in? Which ones do we take out?
The similarities are almost uncanny. What are the odds that my child and my car would both have problems where the only hope of an answer lies in the “super specialist?”
I could barely contain my laughter, but by then we needed a good laugh.
We had just left the hand surgeon. The one who was hopefully going to have an answer, and get Meghan some relief from the persistent pain in her hand and wrist.
I came as usual, armed with a thick heavy binder, a recent MRICD and reports, a list of all current doctors.
I think I knew we were in trouble when he didn’t seem to see the small mass at the base of her middle finger. You know, the one she says helps alleviate the pain when she presses on it?
He said it was “barely there.” Yes, and 2 weeks ago it wasn’t there at all.
He took an Xray. Obviously low radiation, (I hope) because no one left the room.
The bone structure is fine.
Shocker!
And he repeated to me that the MRI was fine. (YEP, I know.)
But, at least he, 40 years older than the other doctor, had the decency to take out his iphone5 and google it.
I gave the beautifully written letter from our PT. It explained everything so clearly.
Pause… Pause… Obvious think time for the doctor.
“I don’t know what to tell you.”
EXCUSE ME?
” I am sorry I wasted your time.”
That was it. No request that we come back. No suggestion on what to do next. Pay the Copay (AGAIN!) and leave.
So when we got to the car Meghan and I were both agitated. Rightfully so. She is so frustrated. 8 weeks plus, and she doesn’t have the range of motion in her wrist. She was so angry. How is it that these medical professionals keep turning her away with no answers and still in pain?
I told her she was entitled to a fit. She is above that. She got angry for a bit, then frustrated. But I have definitely had many worse fits this summer alone.
Then, she said, “You know what Mom? They are all Donkey Butts! All these doctors that can’t fix anything, and keep wasting our time and your money- that’s what they are- DONKEY BUTTS!”
I spend a good deal of time working with her on appropriate language for a lady. But I almost had to pull over in hysterics from laughing so hard. I think she nailed it – politely and accurately.
beatingcowdens 