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.
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.
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.”
” 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.
I actually watched it happen. We were walking up the hill to swim practice last night. Then she was limping.
She handed me her bag – struggling to balance. Before I could ask what had happened…
“My hip, my groin, the whole thing!” Gesturing near her hip bone and down her outer thigh.
I looked for a bench but there was none. She wasn’t interested anyway.
“We can’t sit – I will be late for practice!” Exasperated that I would even think she should stop walking while writhing in pain.
“Um, Meg – I was thinking you shouldn’t go to practice.”
“No way! We are here. I am going, and besides- the only time I feel close to normal, like everyone else – is in the water.”
We took away soccer.
We took away dance.
We can’t take away swimming.
So I made sure she asked her coach to help her stretch the hip. She stopped only once during the hour and fifteen minutes. I am sure I could not have kept up.
As I walked, and she limped back to the car she said it was, “not so bad.” And, she was “glad” she practiced.
Dedication. Admirable. Torture.
After the shower it all fell apart quickly. She froze almost completely. We rubbed it, and elevated it. Within an hour she needed help walking.
She got settled into our bed and tried to rub her hip.
The yelp indicated the pain on her hand and wrist has not subsided either.
As we got her comfortable I thought forward, about the week to come.
I emailed her genetecist and her oncologist this week. I attached photos of her hand. I attached the copies of the MRI report. They responded inside of a few hours.
Biopsy those lesions. On this they agreed. Cowden’s Syndrome -PTEN Hamartoma Tumor Syndrome. Soft tissue tumors are common. The oncologist reminded me only one lesion was visible during her exam just 2 weeks ago.
I know. I watched the other one pop out as she cried out in pain during a shopping trip to Kohl’s. It wasn’t there. Then it was. Now it is. And it hurts too.
Tuesday we will see an orthopedist. Thursday we will see a hand surgeon. Two more doctors we didn’t plan for. Two more afternoons lost waiting. Two more opinions to contend with.
And the prevailing uncertainty that anyone will ever fix the problem.
She is walking a bit better tonight. That is encouraging. A nice afternoon with a friend. Conversation for me was easy and comfortable. Grown up talk – something I have craved, while the children swam in the pool. Almost normal for a few hours there. Almost.
The car is going to stay in the “car doctor” over the weekend. Apparently its condition has been downgraded.
Paperwork to begin a complaint with Better Business Bureau should arrive early next week.
Maybe I should give the CAR an ISAGENIX shake or meal bar. It might be more productive than what is being done to it.
Monday we should know more.
Monday we should also hear from the rheumatologist about her thoughts on the MRI.
Sandwiched in between concerns about family and friends alike. In some ways our lives are miles different. In more ways – they are exactly alike.
Patience. Worry. Anxiety.
Tick Tock, Tick Tock… that would be the sound of summer passing us by….