Rare. Invisible. Real.

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...

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.

NYU

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.

competition_pools

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.

happy girl

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.

sunshine

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.

Cowdens information card

 

 

4 thoughts on “Rare. Invisible. Real.

  1. Forget doctors…your mother’s intuition was right! You KNEW something was going on! Isn’t Dr. Jill a gift from the heavens?! Glad you got answers even if Meghan needs surgery 😦

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