Rare. Invisible. Real.

Published on August 5, 2013 by beatingcowdens4 Comments

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.

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.

Champions of Hope – Global Genes Project

Published on July 15, 2013 by beatingcowdens10 Comments

I received this in the mail today, and thought it was an error.

I actually Emailed the woman on the card to tell her they had made a mistake.

She assured me they hadn’t. She even forwarded me the nomination form that had been sent in on behalf of Meghan and I. Touched. Stunned. Honored. Flattered.

I talk to Meghan all the time about the blog, about the internet, and about forfeiting privacy in the interest of reaching others and raising awareness. She is all in. She is a preteen. This is the time to address internet issues all the time. I told her the other day she would only want things on the internet about her she would be proud if her family or a future boss saw. She agreed. She is proud of this, and so am I.

We are big supporters of the Global Genes Project. We wear the denim ribbon on our necks every day. (And we hope beyond hope that one day, they will sell them as an awareness raising fund-raiser!)

The winners have been chosen. I wish them all the best.

I have no idea how many people across the world received this glass block that we received. It doesn’t matter, because it won’t make it any less special.

We haven’t done much – just openly told our story. But, apparently to some, that is all they needed.

I am so grateful for the “Rare Disease” friends I have met along the way – those with Cowden’s and other PTEN mutations, and those with diseases I myself am first learning about. Separate we are weak. Together we are strong.

And to the very strong lady, my friend who I have never met, who had the love in her heart to think of us, to nominate us… well, BIG HUGS to you. You continue to make a difference every day.

2013 “Tribute To Champions of Hope” Gala

2013 RARE Tribute to Champions of Hope Gala

They will celebrate in California on September 21st. We will celebrate right here, and with them in spirit.

There are people making a difference for our “Rare” community at large. I am eternally grateful. One day, all this will change… (source) http://globalgenes.org/rarefacts/

RARE Facts and Statistics

Statistics and Figures on Prevalence of Rare and Genetic Diseases

Although rare and genetic diseases, and many times the symptoms, are uncommon to most doctors, rare diseases as a whole represent a large medical challenge. Combine this with the lack of financial or market incentives to treat or cure rare diseases, and you have a serious public health problem.

Here are a few statistics and facts to illustrate the breadth of the rare disease problem worldwide.

There are approximately 7,000 different types of rare diseases and disorders, with more being discovered each day
30 million people in the United States are living with rare diseases. This equates to 1 in 10 Americans or 10% of the U.S. population
Similar to the United States, Europe has approximately 30 million people living with rare diseases. It is estimated that 350 million people worldwide suffer from rare diseases
If all of the people with rare diseases lived in one country, it would be the world’s 3rd most populous country
In the United States, a condition is considered “rare” it affects fewer than 200,000 persons combined in a particular rare disease group. International definitions on rare diseases vary. For example in the UK, a disease is considered rare if it affects fewer than 50,000 citizens per disease
80% of rare diseases are genetic in origin, and thus are present throughout a person’s life, even if symptoms do not immediately appear
Approximately 50% of the people affected by rare diseases are children
30% of children with rare disease will not live to see their 5th birthday
Rare diseases are responsible for 35% of deaths in the first year of life
The prevalence distribution of rare diseases is skewed – 80% of all rare disease patients are affected by approximately 350 rare diseases
According to the Kakkis EveryLife Foundation, 95% of rare diseases have not one single FDA approved drug treatment
During the first 25 years of the Orphan Drug Act (passed in 1983), only 326 new drugs were approved by the FDA and brought to market for all rare disease patients combined
According to the National Institutes of Health Office of Rare Disease Research, approximately 6% of the inquiries made to the Genetic and Rare Disease Information Center (GARD) are in reference to an undiagnosed disease
Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease

And one day this list will be a lot shorter. http://globalgenes.org/rarelist/ (Click to see the more than 7,000 Rare Diseases)

For tonight – I will rest knowing we have helped a few people as best we can, and that we have raised awareness of a few others. I will rest knowing that while I endure the agonizing wait for the wrist MRI there are people working so that one day these Rare Diseases will be a distant memory.

I will rest thinking of my daughter – the future geneticist. One who WILL make a difference!

Newsworthy

Published on February 20, 2013February 20, 2013 by beatingcowdens2 Comments

In a nutshell that’s what it comes down to. Having HOPE. All the time. Even when it seems too hard.

My daughter Meghan gives me HOPE, and when she wanted to get prepared for “Rare Disease Day” on February 28th by creating lots and lots of denim ribbons… well, it was impossible to resist.

It started out for her school. Then it morphed into my school too. Plus about 500 more.

“To raise awareness Mommy.”

Meghan has had an affinity for the Global Genes Project since soon after our diagnosis.

As a matter of fact that is the very denim ribbon image she had our friend use when he crafted her “one of a kind” necklace. (Well, now that Mom has one I guess there are two…) That very same necklace she hopes will transform the world’s image of rare diseases and give them a uniting symbol.