Maybe the hardest part about being a kid with Cowden’s Syndrome, is trying to be a kid.
I wouldn’t know. My diagnosis came way after I was a “kid,” although I might say that it was never easy fitting in being the kid who was always at the doctor or in surgery – for something.
Meghan has kids who like her, but precious few that she calls friends. The girls she is close to are lovely through and through. I find them similar to Meghan in developmental exposure to the real world. They still know how to play dolls and be kids.
This week the swim meet was against the team of one of those friends. This is a young lady who has been to my home, and Meghan to hers. She chose to write a book about friendship and dedicate it to Meghan. They took countless swim classes together. So, the fact that they would be competing, in some of the same events today, caused anxiety for Meghan.
She worried about losing – and about winning. She wasn’t sure how to digest either one.
After the race where she took second and her friend took third, her dear sweet friend, half Meghan’s size, stayed behind to try to help Meghan out of the pool. I wanted to hug her for being so graceful and such a lady. That little girl, whom I always respected, gained my admiration forever right at that moment. It spoke volumes of her character.
So as we replayed the meet in the car on the way home, Meghan was pleased to have placed well. It was only her second competitive meet ever, and she was enjoying the feeling of competition. We didn’t dwell on it, and after a shower we were off to buy some shoes for Easter, and a sweater too.
Imagine then my surprise when I overheard her on the phone with another classmate bragging about her win over her dear friend.
When the conversation ended we spoke and there were tears. She was just so proud to finally be successful, she forgot herself. Now she was just beside herself. She was worried her friend would find out she had bragged, and was terrified at losing her friend over nonsense.
So, she did the bravest thing I could have imagined. She called her friend, and confessed. Knowing she might never get caught, she could not live with the fact that she had been disrespectful to someone she held so dear. So, in between sobs she told her friend the whole story. And she apologized.
I am sure she won’t do this again any time soon. She was devastated.
And her dear friend – I expected nothing less – greeted her with a pure and forgiving heart. Turns out she herself had once bragged, apologized, and been forgiven.
I love it when a story ends well. Life lesson taught. All friendships in tact.
When I was a little girl, we lived on the first floor of the two family house where my grandparents still live.
I feel like it used to snow a lot more when I was younger than it does now, and I can remember watching my grandfather take his snow blower and clear out the block – both sides of the street. It was one of the many times I was amazed, at his compassion, and Christian attitude towards his neighbors. Pop was my very first lesson in how to”Pay it Forward.” Always giving with no expectation, or desire that it be recognized or returned.
The years have changed a few things, but not everything. Pop still gives whatever he can, to whomever he can, whenever he can. But, at 93 he can no longer shovel the snow. We often laugh that if that is his only restriction – he is in pretty good shape. And truly, he could put most of us half his age to shame.
It snowed in New York today. The weather forecasters didn’t have it quite right, and what first was to be major, and then not so much, seemed to fall somewhere in the middle and it lingered all day. Since the forecast is for weather in the 50s this weekend, as the day went on the snow got wetter and heavier.
I aways leave work at lunch to let my dogs out. Today the roads around my school weren’t looking so good, so I decided to chance it and leave them. They lasted until 2:45 when we got home. Meghan let them out as I began to shovel the heavy snow off our walk. One of my neighbors had left path down the sidewalk. I don’t know who, but I can make some guesses. Either way, it was the kind to remind me of my grandfather, and all the walkways he cleared when I was a kid.
I told Meghan she had to come with me to shovel at GiGi and Pop’s house. She was more than willing. As a matter of fact she was excited, and insisted she would help. Heart bursting with pride, I reminisced about my early snow shoveling days. The days I probably did more harm than good, but I felt so important – so proud to be helping. I have always been so grateful that I was allowed to help shovel at a young age. I believe it motivated me to be a bit more of a team player. Snow shoveling was always just something we all did. So – it is a natural occurrence for me, and one I am happy to share with Meghan.
My grandparents don’t live far, and they have been blessed with neighbors that always seem to help with the shoveling. Often before we have had a chance to dig out our cars to lend a helping hand, we will get a call not to worry – the neighbors did it. Of course, we still head down to do what we can, but those neighbors and their kindness have helped us on so many occasions.
So when Meghan and I arrived – my grandparents were not home. They were out at a funeral for an old friend. Meghan and I went to work. While she was working on the front of my grandparents, I began to clear the neighbors. Finally we were there first! She was confused at first, but when I explained to her how kind they are, she insisted on clearing their driveway herself. She was actually annoyed when I told her she had gone far enough.
DETERMINATION
As we got back in the car, she was chatting me up about how much “FUN” it had been to shovel. She was so genuinely excited to be helpful, and I was glad to have a helper.
But, then there was the pain. There is always the pain. The snow was heavy. Ice and slush. She persevered. Then she came home and did some homework, and had dinner. It started with the elbow. Then the knee. Darn Celebrex just can’t cover it all anymore. A rub from Daddy and a Tylenol with the nighttime pills. Hopefully she is not too stiff for her swim meet tomorrow.
My big girl. Finding her way. Strong willed and determined. Brave and in pain. Stubborn, and refusing to quit. Cowden’s Syndrome will never own her. It will never leave her, but it will not determine her movements. Tonight even through the pain there was talk of “next time when I shovel.” She keeps me motivated.
The chiropractor told me not to shovel. But that was yesterday. She also told me that the degenerating disks in my back are likely a direct result of the car accident in November. Ok, so that explains the pain. But really I will not go quietly either. Cowden’s Syndrome has created havoc in my body. But I will not retreat. Nor will I surrender.
I am leading an army of 2. We will hold each other when we need to, but we will soldier on.
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.
My Mom and I
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.
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.”
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.
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.
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.
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.
Lucky, Meghan and Allie – My three girls
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.
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.
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.
A denim cause ribbon, crafted after the Global Genes Project’s slogan, “Hope it’s in our Genes!”
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.
We were on the front page of the “North Shore” section.
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.
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.
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.
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.
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!
Monday the orthodontist referred us back to the dentist. The OVERGROWTH on Meghan’s gum may warrant an evaluation, and possible oral surgery. But first – to the dentist Thursday.
Tonight, an annual eye doctor exam. Admittedly we are 3 months late. There was the hurricane, and then Grandma fell, and then the car accident, and then… it was January 29th.
I knew her eyes were worse. She told me she couldn’t see the charts in the room. Her teachers asked when she would have another eye evaluation.
She had gone since kindergarten without a new prescription.
The onset of headaches, correlated with the decline in vision over the last three months makes me uptight.
She read 20/50 and 20/70 WITH her glasses on. I almost threw up.
Cowden’s syndrome and its tumor growth, and general overgrowth potential. can lead to the wildest imagination.
But, my husband’s sisters, Meghan’s paternal aunts, have terrible eyes. So maybe…
Then they took the picture of her eyes, and compared them to the visit of October 2011.
“Well, maybe my machine is just darker today,” says the doctor. “But there is some shading on the right eye I think you should have looked at. It’s probably nothing, but…”
beatingcowdens 