After a ton of work uploading the video of Meghan’s speech on “Rare Disease Day,” we got it to the Facebook page – Beating Cowdens. She spoke for all those who suffer from rare diseases, with poise – and HOPE.
It is about 5 minutes, but the proud Mom in me couldn’t resist.
Tonight though I have to send you backwards to Facebook to view it.
And, while you are there, if you are a Facebook user – “like” our page.
We left the house today with only the normal jitters. We even had time for a few family photos.
I have been teaching for 16 years.
I have addressed hundreds of students, if not thousands through the years.
I pride myself on being able to get their attention with minimal effort, and keeping it in most cases.
Sometimes it can be a bit more trying – like a full auditorium, as opposed to a closed classroom, but with the right presence and message, it can be done.
I did not get to hear Meghan’s speech today first hand. I was thrilled to see her happy smile when I picked her up. I knew she felt it had gone well, and that was most of the battle won.
While she was doing her homework I watched the recording her para had kindly made for me. I was awestruck.
Not only was I impressed with my little girl, and the clam, confident way she spoke, I was AMAZED by the quiet in the auditorium.
Now I know they are taught good manners, but this went beyond that. She HAD them. They cared about what she was saying. They were interested to learn about Cowden’s Syndrome. They were hanging on her words. The applause at the end confirmed it. She nailed it. Public speaking is not an issue for my girl.
The day followed with a Skype call to her friend Connor in Colorado. They struggled with the video feed, but they had audio and will try again next week for the video.
I know its only the US, but “Rare Disorders without Borders” here we come!
HUGE smile. Giant fatigue. Her day was a success. And now, tomorrow, she will give her speech all over again to the 4th and 5th graders – her peers. May it run just as smoothly!
Meanwhile, back at my school – the ribbons were distributed. The jeans were on. The kids were charged.
Many of them even decorated their doors with the Global Genes Project – denim ribbons. This was a huge school spirit event. I received cards, letters, and even a pack of thank you notes from one class. It was beyond touching to see my colleagues, supervisor, and students, all in their jeans with their denim ribbons.
“Hope it’s in our Genes”
We clearly are not alone.
All day long the photos came in. My Facebook page was hopping.
My nephew’s PreK staff on Long Island, my friend’s Catholic School on Staten Island, a few ribbons to a local HS, junior class at another school wearing theirs to support a family member. My sister had hers at work, and so did some dear friends.
“Next year…”
Next year can we do a fund raiser too?
Next year can we involve more schools? Maybe all of Staten Island?
Next year…
I got tons of requests, and offers of help. We know LOTS of really great people.
Next year, maybe we will help raise awareness even more.
But this year, tonight. I am tired.
I am grateful.
We are smiling. We are blessed.
Right now, Tylenol for her pain. TLC for her nerves.
There will be time to plan for next year…
Yesterday was another trip to the rheumatologist. She is lovely, but hasn’t a bit of a clue why Meghan’s pain persists – often through the Celebrex, and ALWAYS without it.
She prescribes the medicine. She examines her. She sees no signs of Juvenile Rheumatoid Arthritis.
We speak for a little bit about Cowden’s Syndrome, her thyroid, and some of the other battles she has endured. I ask the doctor if this could all be related.
And she, candidly, honestly replies, “I don’t know. I am starting to think there is some link, but I don’t know enough about your syndrome to put it together.”
Well at least she is honest. But it is tiresome. The traveling. The doctors. The lack of answers.
So tonight, as I gave Meghan Tylenol after swim practice because the knee pain wouldn’t cut her a break. We turned our thoughts to tomorrrow, and the 6th Annual World Rare Disease Day.
This year’s motto is “Rare Disorders without Borders.” It got Meghan and I to thinking about how nice it would be if doctors in all the countries would share their research. There are so many rare diseases throughout the world. So many more dire than our own. There are so few people even looking for cures. As she chats and gets to know a girl in Australia with Cowden’s, we can’t help but think about how much more voice each of our disorders would have “without borders.”
http://www.rarediseaseday.org/solidarity (This link takes you to a video on Rare Disease Day)
We talked a little about the newspaper article, and how it has helped spread awareness in out community. We talked about all the ribbons we have made and distributed, and how nice it will be to see them tomorrow, and know we are not alone. We have raised awareness of Rare Diseases, and we have only just begun.
http://www.silive.com/northshore/index.ssf/2013/02/staten_island_9-year-old_and_h.html (This is a link to our article from the SI Advance – February 20th)
Meghan, and her determination will see her dream of the “One of a kind” necklace with the Global Genes Project Logo, find its way into their new store. She will see more and more people recognizing that “Hope is in our Genes,” and the denim ribbon gives an identity to those who too often have none.
Tomorrow people will understand what it means to “Wear That You Care,” as they don their jeans locally and globally.
My daughter, one of the compassionate people I know, is also the least judgmental. She is kind. Because she knows what it means to need kindness. She is kind because she has faith, and wisdom gifted to her. She is kind because, “You can’t tell by looking at someone if they are sick or in pain.”
We share a genetic mutation. I am her mother. She is my role model and my hero.
She makes me a better person.
Wear your jeans – February 28th, 2013.
Maybe tonight I would have to call Meghan the “Guest Blogger.”
What you read below is her speech. She was asked to prepare something to read for her school for “Rare Disease Day” on Thursday. She is an excellent public speaker, and fights only a few “butterflies” before she speaks. She always makes me so proud. I wish I could be there!
The text of the speech was written by her. I typed it, and then she went back in and changed it again. I added the pictures… just for here – because I like to!
She will review the speech with her principal tomorrow, but I don’t expect many changes.
When did my baby grow up?
**********************************************************************************************************
Some of you, who know me, know me as Meghan Ortega. Or, maybe you know me as Meghan from 4th grade, or Meghan from Mrs. Worsdale’s and Mrs. LaMonaca’s class.
You might, if you know me a little better, know me as Meghan who loves to read, and swim. You might know me as Meghan who loves dogs.
Maybe you know that I have 2 dogs that I love, and a mom who is a teacher and a dad who is an electrician.
But, until today, very few of you knew that I am Meghan Ortega and I suffer with a Rare Disease called Cowden’s Syndrome.
Until September of 2011 I didn’t know I had this Rare Disease. What I did know was that something was wrong and my body was far from that of a “normal” kid.
For as long as I can remember, every week of my life has included AT LEAST one doctor’s appointment, and lots of times even more.
You’ve all been to the doctor and you know it’s not fun. It involves waiting and waiting…and even more waiting. It also involves poking and prodding. For me, it often means being sent to more and more and more doctors…
My mom says when I was a baby I wasn’t really comfortable, and I cried all the time. I almost never slept, and wouldn’t drink my bottle.
When we talk about it now, we think my body knew I couldn’t handle dairy products, and dairy is in milk.
Mom also tells me that I started seeing lots of doctors when I was just a few weeks old. Soon there were doctors to check almost every part of my body.
I have had 9 surgeries. I remember having my gall bladder out before I turned 4. I also had a lipoma (a soft tissue tumor that people with Cowden’s Syndrome get.)
I had knee surgery 4 times for an AVM in my right knee. An AVM is a vascular malformation. It is also common in Cowden’s Syndrome. It feels very strange because it pulses like your heart beat. Every time I had that surgery the doctor thought I wouldn’t need another one. But they have already done 4, and they are not sure if the AVM will ever go away, so I will probably need more.
Because I am in pain so much, I get physical therapy in and out of school. My outside physical therapist, Dr. Jill told Mom that she should take me to see a geneticist. I didn’t really understand what that was, but we went because that is just what I do.
Dr.Pappas at NYU was really nice. He examined me and he talked to me and mom. When he was done he drew some blood. He said he was pretty sure of what I had, but we had to wait for the test results.
In September of 2011, just as I was starting 3rd grade, we went back to his office and he told us that I have Cowden’s Syndrome. It means that my PTEN gene is broken. Your body is made up of all sorts of genes, but these are G-E-N-E-S, not J-E-A-N-S like the ones you wear. PTEN is the gene that keeps your body from growing tumors. Because mine is broken I get more growths, like the AVM, the lipoma, and the nodules on my thyroid that I have to have checked every 6 months.
As soon as I was diagnosed, the doctor talked to my mom and said she probably had Cowden’s too. He took her blood and a few weeks later she tested positive.
Because of the Cowden’s my mom had lots of tests done, and it explained a lot of things about the 17 surgeries she has had. On March 5th it will be a year since she had surgery for breast cancer. She is just fine. She says that knowing she had Cowden’s helped her find it early. She says to everyone that my diagnosis saved her life.
When I am here at school I smile a lot. I don’t like to dwell on anything bad. We spend enough time with doctors so I try to enjoy my time with kids.
You would probably never know by looking at me, that I am in pain a lot. I take medicine every day that helps my joints hurt less than they used to, but still most days I have pain. It is hard for me to climb up the stairs, and play at recess, but I do it.
We first heard about “World Rare Disease Day” last year, but at the time we were a little too stunned to do anything about it.
This year I told my mom I wanted to do something to make people more aware of Cowden’s Syndrome and all rare diseases. I was not ready yet to do a fund raiser – I just wanted to get the word out that Rare Diseases like ours exist. There are over 7,000 of them!
I shared my idea with Mrs. Manfredi and she said I could give out the ribbons and information you received today. I was really excited.
“Hope it’s in our genes” is the motto of the Global Genes Project. They try to raise awareness and find cures for all rare diseases.
Today I think it’s important for you to know you can’t ever really judge someone by how they look on the outside. You never know what’s going on inside of them.
Be kind.
Be aware.
Rare Diseases are everywhere.
Thank you
** By Meghan – Age 9!
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.
I called our local paper. The reporter met with us for 2 hours Friday of last week. The article printed today.
The link isn’t up yet – not the full one. Just the link for the photo.
So, for now… this is all I have.
And here is the article.It will probably read a lot better on an iphone… or with a magnifying glass. 🙂
I will be sure to post the real link when I have it.
But it is here and we are excited. Raising awareness in our hometown.
My girl already wants to add a few schools for next year… Can’t stop this kid, and I wouldn’t have it any other way.
Insert HUGE sigh of relief here.
We saw the retina specialist. He was a young guy. He took a medical history. He had never heard of Cowden’s Syndrome so he took 15 minutes to read and familiarize himself with it so we could have an intelligent conversation BEFORE the exam. (This is where all my fellow Cowden’s sufferers stop in amazement… yes – imagine that!)
He understood my concerns, especially the vascular ones since the eye doctor saw “something” on the picture of the eye.
Even with her having said, “It’s Probably Nothing, but…,” he still took almost 1 hour start to finish on the exam.
He looked in her eye. He photographed the eye. He tested her eye pressure, and her vision with and without glasses. He systematically eliminated cause for concern, until he was able to say – yes, her vision declined – but I don’t see any ominous reason why that happened.
There is NO evidence of vascular lesion. There is NOTHING to indicate that Cowden’s Syndrome played any part in this one. Instead, it’s a bit of “cat and mouse.” This time we are chasing a different set of genetics.
Unfortunately for Meghan, her father’s family doesn’t carry good eyesight. Seems she got the PTEN mutation from me, and the rotten eyesight from them. Share, Share.., I am not happy about the poor eyesight, but it is a lot more straightforward and less messy than anything Cowden’s related.
Genetics.
Rare diseases.
Over suffered, and under researched. All of them.
Spoke to a Mom, a volunteer at the Global Genes Project.
She was lovely.
She also has twin 9-year-old girls with a rare disease, whose chances of long-term survival are bleak.
The kind of conversation you end wow-ing the other person’s strength, and being thankful for drawing the rare disease card you did.
And this week I am being reminded that your kid doesn’t need a rare disease to end up in dire straights. Young children are snatched from their parents far too soon. In ways that just don’t make sense.
So we pray. A lot.
We can’t fix everything. As a matter of fact we can’t fix most things. So we hope. And we help. The best way we can.
We will make lots more ribbons. People need to know about these disorders. All of them. And once they know, they will help.
We contacted the paper in hoped they will run a story. Every day feels like a story unto itself.
This time it wasn’t the Cowden’s. Thank God.
But there will be a next time. The worry will never cease.
Hold your children tightly. To a large extent we are lucky. We seem to know the beast we are fighting.
Tell them you love them. All the time.
We are going to Disney again. Money well spent.
Don’t look too closely at the backyard, and the deck. Just come spend some time with us. It passes too fast.
And WAY too much of it is spent at doctors, without much reprieve.
Tomorrow we head back to the dentist about those gums…
So tonight, as I turned the calendar to February, Meghan actually whooped with excitement.
When I asked her why, she told me that she was going to “Celebrate Rare Disease Day” this month.
I smiled in spite of myself. This kid can get excited about anything, and to imagine that 2 years ago we never even knew there was a “Rare Disease Day.”
This year she intends to celebrate with her usual charm and zest.
Our kitchen table is a ribbon making center. We are gluing denim ribbons at an alarming rate. She created a half sheet to attach to each ribbon, describing our connection.
Then, she bravely approached her school principal to get permission to distribute 950 ribbons to the staff and students at her school. She will ask them all to wear jeans on February 28th. And that day, she will not feel alone.
She is getting to know some of the other rare diseases, listed here.
http://www.rarediseases.org/rare-disease-information/rare-diseases
She knows ours is pretty rare, but the list is alarming. Almost 7,000 diseases fit the criteria for “Rare Disease.”
http://curiosity.discovery.com/question/criteria-to-determine-rare-disease
So tonight, after we left the dentist, with the encouraging news that she doesn’t think we need an oral surgeon. We were in a pretty good mood. Meghan and I looked in the mirror at the “cobblestone gums” (a hallmark of our Cowden’s Syndrome) that we share. Mouth issues are just another battle to be fought in the war.
Rare Disease Day gives her a focus.
The pain has been horrendous this week. The legs, the knee, the groin, the arms. Probably the weather – everyone says. Little solace to my 9 year old. The Celebrex seems to be quitting. Supplemented each morning by a dose of tylenol, she gets through the day.
But she lights up again when the talk returns to “Rare Disease Day.” She has hopes that maybe her young friend in Australia, or in Ohio – both with Cowden’s, might be able to Skype into her school.
She and I have matching shirts from with the Global Genes logo.
She wants to give these ribbons to anyone who will take them. She wants the world to know, and to understand. Even if it is only for a day.
She wants her pain, her doctor’s appointments, her worry, her biopsies, her surgeries… to matter.
She knows they do. To the people who love her. She knows there is a virtual army following her in prayer every step of the way. She knows they are praying for the “retinologist” visit, and for her eyesight, as well as for her health.
She knows that some of them she knows, and some she will never meet. She appreciates every single one.
And this is the month. She will have “her” day. She will include everyone. She will not feel like 1 in 200,000. She will not be lonely.
She hurt tonight. We rubbed her legs, and kissed her before bed. We have no idea if it will ever be alright So we don’t lie anymore. We do what we can, when we can.
I will contact the local papers, and see if I can get someone to pick up a story on a little girl who wants to change the world.
I will eagerly await a phone call from the Global Genes Project.
You will hear a lot about this during the month. Bear with us. We are not passive people. We work through doing!
Meghan is really into raising awareness of Cowden’s Syndrome and other Rare and Genetic Diseases. She is extremely excited about “World Rare Disease Day” on February 28th.
We are in the process of making MANY denim ribbons that look like this. She plans to ask her principal tomorrow if she can give one to every staff member and student in the school. She wants to do this purely to raise awareness. Her ideas for fundraisers are developing separately.
She has also researched statistics on Rare Diseases, and came up with this sheet to attach to the ribbons.
February 28th is World Rare Disease Day
My name is Meghan… and I have a Rare Disease called Cowden’s Syndrome. It is a genetic disease that affects only about 1 in 200,000 people. (That is only about 1,500 in the whole USA!) One of my genes called PTEN is broken. It causes tumors and vascular growths in my body. I have lots of surgeries. My Mom has Cowden’s too. We are luckier than a lot of other people with rare diseases.
I learned some information about other rare and genetic diseases;
1. There are about 7,000 types of rare diseases.
2. Some of the rare diseases affect less than 100 people.
3. 50% of all rare diseases affect children, and are responsible for 35% of the deaths in the first year of life.
4. 1 in 10 Americans are living with a rare disease.
5 About 350 million people in the world are affected by rare diseases.
6. If all the people with rare diseases lived in one country, it would have the 3rd biggest population in the world.
7. 80% of rare diseases are genetic. They can present at any time in a person’s life. My mom was much older than me when she was diagnosed. I was diagnosed first!
8. There are no cures for any rare disease, and only 5% of them have any treatment.
9. Over 50% of all rare diseases have no foundations, support groups, or anyone looking for a cure.
10. Cowden’s Syndrome isn’t fun, but when it comes to rare diseases, we are some of the lucky ones.
We support, and get our information from www.globalgenes.org. Their slogan is “Hope it’s in our Genes.”
That “play on words” is why we wear denim, and denim ribbons today.
In addition, because maybe there was a chance I couldn’t get any more proud, she received a book assignment from school. She had to write a story where the main characters were two dogs named “Casey and Bella.” She decided to write about what meant something to her.
I have no idea who will win, but you know who gets my vote.
Everywhere she goes, she seems to take an opportunity to tell someone about Cowden’s Syndrome. She says people need to know. She uses our necklaces to start all sorts of conversations.
She dreams that one day they will be as common as the “pink ribbon,” or the “puzzle piece.”
I think she is just the girl to make it happen.
Someone in one of my online groups asked if we knew anyone famous with Cowden’s Syndrome.
Does… I know someone trying to make Cowden’s Syndrome famous count?
I love my little girl!
What a year! Just months after our diagnosis of Cowden’s Syndrome in the fall of 2011, Meghan and I took on 2012 completely unsure what to expect. As a matter of fact this very week last year, I was anxiously awaiting word on her thyroid biopsy slides that I had had transferred to a new hospital. Ironic that I sit tonight, waiting to hear when the next thyroid biopsy will be. The more things change…
In 2012…
I lost the ability to say, “I can’t.” Instead I gained “Nerves of Steel” attacking this syndrome head on.
I lost my self pity and gained determination watching my daughter start her own awareness campaigns.
I lost my fear of driving on highways and in big cities. Now I navigate NYC like a (cautious) professional, and even venture to hospitals in NJ and Boston.
I lost my fear of ridiculously large medical bills. Instead I get to them when I can, knowing in most cases they are fortunately not mine to pay anyway.
I lost about 3 more sizes, and have finally settled into clothes that fit.
I lost my muscle tone, as wild days kept exercising at bay.
I lost sleep, and more of my brown hair to gray as worrying kept me up many nights.
I lost my breasts in a bilateral mastectomy, but replaced them with perky new silicone ones, and with that…
I lost my fear of breast cancer and those ridiculous breast MRIs!
I lost my feeling of loneliness after my surgery when I got to spend a week chatting it up with my Mom.
I lost some of my close friends, who understandably tire of hearing me repeat the same stories without resolution, but I gained an incredible online support “family,” through Facebook, through PTEN world, and through my blog.
I lost that sense that we are alone at this battle against Cowden’s Syndrome, and I gained a deeper appreciation for the friends that call, message, and connect me to organizations like NORD, and the Global Genes Project.
I lost my uterus, and my ovaries, but I was done with them anyway, and I gained permanent birth control and instant hot flashes!
I lost one of my Grandpas who I know I was so lucky to have for so long, but whose loss is felt deeply.
I lost my old cell phone, and finally traded it in for a “smart” phone.
I lost my old church, for reasons that still break my heart, but my family has been welcomed home at a new church where we are still marveling in God’s mercy and grace.
I lost my negative attitude about Staten Islanders when I watched my friends and neighbors rally to help the victims of “Superstorm Sandy.”
I lost my car in a ridiculous accident, but this week replaced it with a 2013 Hyundai Sonata.
I lost the way I sometimes took my grandparents for granted after Grandma Edith fell this fall. I always loved them with all my heart, but I will remember how lucky I am each and every day.
In 2012 I gained tools I will use every day as I move forward.
I gained…
Determination – that we will beat this!
Focus- on what matters most.
Perspective- that everyone suffers.
Forgiveness- because negativity hurts me more than them.
Gratitude- for the kindness of family, friends, and strangers.
Compassion- as I watched my little girl continuously open her heart to others.
2012 had plenty of hard times, but like my car, it was far from a “total loss.”
Here’s to the lessons to be learned in 2013.
Wishing you all health and happiness!
The upside of waiting I guess, is that it gives me a bit of time. Since I can’t concentrate, I multitask. Simultaneously taking down the Christmas decorations, while doing laundry and eating chocolate chip cookies with white wine. Seems like a perfect time to stop and blog.
A few months back I posted about Meghan‘s necklace. The one that we had had created, just for her, inspired by the Global Genes Project logo of the denim jeans. She received it in August and was so thrilled. She wears it proudly and looks at it as a platform to explain to people what it stands for.
Her goal in having it created was to ultimately have the Global Genes Project sell them as a fund raiser. She has this hope that her idea will ultimately raise money for rare and genetic disorders. I think she is right, and eventually they will get to selling it. Although the holidays are a crazy time and a lot of major things have been going on at the Global Genes Project. They are a super organization. Working to the benefit of all of us who are affected by rare genetic disorders – in our case, Cowden’s Syndrome.
This fall she had my friend’s husband – who created the piece, engrave hers. It says “August 2012 – First of its kind.” How appropriate. I am quite sure my girl is the “first of her kind” as well.
Because, she decided she wanted me to have one too. A necklace like hers.
“After all Mom, you didn’t just have breast cancer. Cowden’s Syndrome is what we will both have – forever.”
She’s right. As I gulp the last of my wine. We are at this forever. Together. And as much as it flat out stinks, I wouldn’t want to share forever with anyone else. She is one awesome little girl. Each of us 1 in 200,000. Lucky enough to have each other.
beatingcowdens 