Normally I try to keep my life as a teacher, and a Cowden’s mom separate, but as I prepare for Meghan’s IEP meeting on Monday, I am reminded of this video.
I first saw it many years ago – but from time to time I watch it again. My Meghan does well in school but has a host of other issues. And, daily I see, admire, and love children who struggle terribly in school.
I think its about time they all get what they need. If only I knew how to make it happen.
It is late, but I need to decompress. my apologies to those of you I meant to reach out to personally.
Really – the last few days again have been a whirlwind.
The Wizard of Oz seems the appropriate metaphor – so bear with me.
Some time last week Meghan began complaining of shoulder pain. Left shoulder – mildly irritated. So, we gave some tylenol and kept on moving. But come Sunday afternoon it seemed to take a marked turn for the worse. And that is where the story began.
She was struggling to move it at all, and the pain face was coming. You know – the face that tries to be brave but is so strained it just ends up looking exhausted? That one.
We got her to bed Sunday night but started to wonder if she would make school the next day. We waited until she was sound asleep and began poking at the shoulder. Sounds mean I know, but we figured if we got a pain reaction out of a dead sleep… and we did.
So I began to Email her awesome PT who did her best to help guide me and keep me calm. She also got me a 1:15 appointment for Monday.
I emailed my boss that I would be out and I let her sleep in Monday. Then she woke up. I guess that’s where it started to get trickier.
Well, maybe not quite that tricky yet – but close. The pain was intense. We decided to try the Urgi Care to see if she needed an Xray. We waited and were seen by a perplexed doctor who decided against the Xray and suggested we see the pediatrician. Great plan. He was on my list but I was hoping to get a jump start since his hours didn’t start till 2.
In the mean time, we went to see the PT. Have I mentioned Jill and Lauren at Leaps and Bounds PT are the absolute BEST? We saw Lauren who calmly assessed Meghan through careful range of motion activities. It was clear she was in great pain. Lauren told me she was worried about the muscles – clearly strained, and the potential that there might be a slight injury to the rotator cuff.
At this point I swear I heard the sound of Cowden’s Syndrome, like the Wicked Witch, cackling in the background, “I’ll get you my pretty…!”
My heart sank. The shoveling hadn’t helped I am sure. But the swimming. That had to be the real culprit. I felt like I had been punched in the stomach, or perhaps that someone had dropped a house on me.
It had taken years to find a sport that she enjoyed. One that she was ENCOURAGED to do. The pride and excitement on her face – amazing. And now the threat that maybe it caused this injury. My thoughts flooded with wonderings about the future.
At 2:30 we headed to the pediatrician. He evaluated her but wanted an orthopedist. We tried three. None took my insurance. Finally they found one local that takes my insurance who would see her Weds. (tomorrow) at 4:40 – but don’t worry because they are triple booked and we should plan on waiting 3 hours.
Um… no.
So as I stood at the window of the pediatrician’s office I asked him to order the MRI that seemed inevitable. He reluctantly did. Then I asked him what to do for her for pain. He called us back in and looked at her again.
He said what I already knew. He said, ” No one around here has a clue about Cowden’s Syndrome, and they don’t want to touch her.” Take her off Staten Island. Go up to Memorial Sloan Kettering where they first diagnosed her AVM. Go to the ER up there. We have no way of knowing if the knot behind her shoulder is a muscle or a soft tissue tumor. (Thank you Cowden’s)
“I’ll get you my pretty…” There goes the cackle again. And a firm reminder to Cowden’s that it WILL not get us
This was at about 5. So, we had a quick bite to eat and headed up to 68th and York. They were perplexed by our arrival, but they handled it fine. They got an Xray, and made Meghan comfortable with heat packs and pain medicine. The Xray wasn’t read because there was no radiologist on, so we were discharged hours later with the pain pills, and orders to see an orthopedist – the one who diagnosed the AVM, and to call our endocrinologist for the Xray results in the AM since he is the one we see at Sloan.
At this point Felix had joined us and we were all a bit punchy. Meghan was stiff and in pain. I was over thinking and exhausted… together we made quite a sight.
We arrived home after 11 and I headed down the street to the 24 hour pharmacy for her pain medicine. Except – they didn’t have it. And they offered me no suggestion as to where to get it. So, at 11:20 – armed with my smart phone, and facebook, I relied on the guidance of a few night owls to get me to a pharmacy. Medicine retrieved, heating blanket purchased, and Twix consumed – I headed home some time close to 1AM.
Felix was staying home Tuesday. It was Parent Teacher Conferences for me. So my head touched down on the pillow some time around 1:20 AM.
Too tired to even think, I could still hear the cackling of the witch – reminding me so much of Cowden’s Syndrome… threatening… “I’ll get you….”
I headed out to work by 7:30.
I called for the Xray results and got a reprimand by our doctor at Sloan that was appropriate for a child. He was annoyed that I had even brought her to the ER last night. I told THAT doctor to take it up with my pediatrician. I really despise arrogance.
In contact with Felix and Meghan we got an appointment for the orthopedist, on the 21st of MARCH!
Since that wasn’t going to work a long term plan, a call to the rheumatologist led to an appointment at 2:30 PM today.
Basically she feels the lump is a muscle and not a tumor…. (So take that bucket of ice water witch!)
She gave Meghan an order to rest for a week. Better than a season! She also gave a script for PT and a muscle relaxant for a week. We will reevaluate then…
In the mean time, she is asleep. Resting with a heating pad. School tomorrow will be tough, but she will make it.
I got through hours of conferences and stayed alert and awake!
I will find the number and call the coach about swimming.
We will not give up. But apparently she needs PT AND swimming, not PT OR swimming. We have time. Not a worry. We will fit that right in.
You know what, it has been a wild two days. But it could have been a whole lot worse.
Everything with Cowden’s seems to have a sense of urgency. There is always the “what if…” Her joints are hypermobile because of the Cowden’s. She injures easily. But all that means is we have to teach her to get in control of her body. So the PT is a have to. That’s ok. Could be worse. Least we love our PTs.
AND… it will be PT AND Swimming. My girl loves to swim. And she’s not half bad.
A few readjustments. A few more bumps in the road. A few more skipped meals, and some more gray hair. But it will be OK again.
Cowden’s Syndrome gives us obstacles. We work around them, through them – whatever is appropriate. As long as we don’t stop.
And well – if anyone says we can’t… we just melt them. It’s much quieter now.
Hopefully tomorrow runs smoothly.
But for tonight…
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.
“You’re not the boss of me!”
Sometimes little kids can be misguided. Sometimes, Mom, Dad, or teacher is in fact the BOSS of them. But that statement from the mouth of a child is the beginning of their move towards independent thought. And, if nurtured properly can lead to a productive, independent, determined adult.
That’s what we are getting at here.
You see I spend enough time around children, that their words and phrases sometimes stick with me. And this one is stuck with me this weekend. So I reflect how it applies to my 9 and a half year old daughter and my 39 and a half year old self.
See, even though Meghan is very good at realizing I am often the BOSS of her, she will not be easily ruled. And while I love her independence, I love more the fact that she remains respectful towards her father and I – and dare I say, all the adults she deals with. She, as an only child has lots of bosses, but I encourage her to rise up against the tyrant that is Cowden’s Syndrome – and she does.
If Cowden’s Syndrome were her boss, she would sit idly by while the pain persisted; in the knees, the ankle, the shoulder, the wrist or whatever joint it currently is attempting a choke hold on.
But, since its not – she goes to dance class on Monday, Swim practice on Tuesday, Music and Movement on Thursday, and Swim Meets on the weekend. She often cries in pain in the hours following these events. But never once does she talk of stopping.
You see, Cowden’s Syndrome is not the boss of her.
Cowden’s Syndrome would have her hide in a corner, ashamed of an “orphan” disease that no one can really understand. But hiding is not for my girl. Instead she asks for a denim ribbon necklace. She learns about the Global Genes Project, she understands “Rare Disease Day,” and she actively participates in the “Wear that you Care” campaign. She makes thousands of denim ribbons, and informational fliers. She gives 2 speeches at her school. She even wrote a book about it. HA! Don’t tell her no one really knows about Cowden’s Syndrome – because she will take it as a challenge, and fix it.
https://www.facebook.com/photo.php?v=10200149863021946 (To see Meghan’s speech)
Cowden’s Syndrome – with its biopsies and cancer risks would like to leave us terrified. Instead, we are empowered. Meghan got the anesthesia she needed and deserved, to have her last thyroid biopsy with dignity. The terror is gone. We will have anesthesia next time too. And, if the cancer hits – we are ready. We are empowered.
Cowden’s Syndrome – You’re NOT the boss of us.
You certainly don’t rule me. 85% risk of breast cancer – yeah, so? Endometrial cancer? Nope – don’t need that either. Thyroid cancer – half gone already, and checked every 6 months. Melanoma – nope. And annual skin exams just to be sure. Colonoscopy – did that. Clean enough to wait until 2015. My spleen – well. That’s still in limbo. But you know what? Whatever. I have stared down worse.
Just came back from my girl’s first swim meet. Time to relish in the satisfaction that something normal happened here today. We will handle the pain, with the smile of knowing – she’s pretty fast.
I know you’re staying Cowden’s Syndrome. I know we can’t ever get rid of you. But, seriously. Unpack in the basement closet and stay away from us.
Cowden’s Syndrome – You’re NOT the boss of US!
Waking up before the rest of my family on a vacation day – 2 cups of caffeine.
Filling the car with gas- $50.
Traveling through the Brooklyn Battery Tunnel $13 roundtrip.
Parking for 4 hours – $25.
Two doctor Copays $20 each.
Trip across the Verazanno Bridge… about $6 with my EZpass.
But, the news from the dermatologist that I can stretch the visits a whole year, combined with the news from the breast surgeon that “everything looks great and I will see you in 6 months!”
ABSOLUTELY PRICELESS!
So we cross small hurdles gleefully.
We had 7 appointments carefully scheduled for this week to avoid time off from work/school. Three doctors apparently realized last week they have kids at home and cancelled. So this concise week of appointments will stretch a bit, but I have begun scheduling the 11 doctors and 4 scans I can remember that are due in June/July.
I will do everything in my power to consolidate them.
Cowden’s Syndrome WILL NOT run our lives.
We are actively preparing for RARE DISEASE DAY…. (FEBRUARY 28th – Get your denim ready!)
Until Friday when we see the vascular surgeon about that pesky AVM…
I cried today. Yep. That was it. Couldn’t hold it in one second longer so I pulled the car into a lot. Thankfully I was alone. And I rolled up all the windows, locked the doors – and sobbed.
It only lasted about 10 minutes, but I caught a wicked headache, and a bit of stress release from that good old-fashioned hissy fit.
I generally make a habit of not allowing them. I am a look at the bright side of life kind of girl. I like to remind myself about others who have it worse, and try to put myself in other people’s shoes. It usually works.
Today the emotion got the better of me. And its OK.
Work was stressful.
Supporting my dear husband while he works his tail off three nights a week at school is well worth it, but stressful for all of us.
Homework. Constant. Ever changing. Tests that need to be studied for. Worry about things not yet complete. Yep, its only 4th grade. The teachers are lovely. The stress is really almost unreal.
Today we went to the Urgi center for X-rays of a foot and ankle that has been bothering Meghan since dance class Monday. She limped for 2 days before I thought – negligent mother should have a doctor take a look. Sprained. Takes time. (Besides the 2 hours out of the afternoon.)
In addition to Cowden’s Syndrome, Meghan has a few other neat things. One of her diagnoses is “Benign Hypermobile Joint Syndrome.” Great – if you can manage your flexibility. If you can’t it leads to all sorts of random injuries. We keep a really good PT around… just because.
But, if I am really really honest – I don’t think any of these things pushed me over into that screaming sobbing cry I so desperately needed. I think it was sadness. Sadness, mixed with raw fear.
Last night I sat with a friend and her 7th grade son at the wake for the little boy who died last week. I couldn’t for a minute imagine that any more sadness could fit in that one room. I had a lot of time to think while we sat. Maybe too much.
I looked first at his family. Mom and Dad poised, and carefully greeting each on the never-ending line. Big Brother and Little Sister, beautiful, supportive, composed. I told you. They could have been any of us. And I am sure they never in their worst nightmare imagined they would be standing there.
And I looked at the police officers, standing in honor. Each one with red eyes as they tried so hard to remain stoic. Undoubtedly they had kids of their own, or they knew the young man well – or both.
Children. Everywhere. Out of order for a wake. Except this time it was theirs. It was their friend. The kid they sat in class with. Young preteens – so many of them former students. Faces raw with emotion. A night they will never forget.
Tomorrow my friend and I, we will go to the funeral mass. We will represent our school. We will try to keep ourselves composed. But, her thoughts will wander to her boys, and mine to my little girl. I will think of the “close calls” we have endured, and the many the Cowden’s Syndrome has on the horizon for us. I shudder at the horror… at the potential.
And yet, if I let it consume me, what life will that be for my girl; my beautiful, generous, compassionate young lady?
If I let the tragedy overwhelm me with the reality that at any moment, any of us could be this family, I will lose track of what I have.
If I lose track, if I stop cherishing the blessings I have, I do not give any honor to the memory of this little boy.
Instead, I hug tighter. Try to strengthen the duration of my patience. Smell the flowers. Say I love you. Believe in angels. Remember what really matters.
I can not comfort this family. My words are useless. They have to find their way.
But, I am quite sure now why I cried, and why I had to cry, and why I continue to cry. I can weep and mourn, with them and for them.
I can hug my little girl, and then hug her again. I can make memories that matter.
Maybe if we all take some time to show some extra love. Maybe then we can find a way to keep his memory alive forever.
God, hold them in the palm of Your hand – tomorrow, and forevermore. Amen.
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!
And that is how the day began.
Anxiety in full swing before 7 AM. Never a good sign. Especially when the panic attack is coming from your 9 year old.
See, I have a problem with this. And maybe it is where some of my anger comes from. I don’t have a problem with Meghan. I am not upset with her, or her anxiety. I am really just PISSED OFF at the cause of her ceaseless worry. It is against the balance of nature that a nine year old should have to have this much to be concerned about. It is absolutely unnatural that I have to soothe her fears while desperately making sure my words don’t form any type of lie. She is too smart. And her memory is way too good.
Sometimes, on mornings like this one. I have precious little to say. So, I hold her, as my stomach lands somewhere around my ankles, and I have a tremendous desire to (as an online support group friend suggests) lay on the floor and throw a massive fit.
And while she is crying about the huge overgrowth that on her gums where she lost her last tooth. I am trying to convince her that maybe, if we brush like the orthodontist said, it will go away. (“LIAR” I hear my inner voice scream..)
Once, a few months ago, soon after the braces were on and the gums were flaring in the full on overgrowth of Cowden’s Syndrome, the kind orthodontist made a general statement in the room where Meghan and I were. He said he was not familiar with Cowden’s, but (thankfully) he believed Meghan to be carefully caring for her teeth. However, if the overgrowth continued she would need to see an oral surgeon to have her gums cut back.
Yep. He is a nice man. But, he obviously doesn’t know my daughter doesn’t miss a beat. She was all over that comment for weeks on end. We already had her gums cut once in 2008 for an odd thing that grew over her front tooth. She may not have a solid memory of the day… but she remembers enough to know she never EVER wants to do that again.
So, what is a Mom to say, at 7:15 AM when the anxiety is impossible to manage? I need to soothe her AND get her in the car (as the NYC School Bus Strike continues) in the next 15 minutes.
At least she laughed. It’s nice to have a smart kid. One who can respect that there just isn’t anything else for me to say. Some days we have to push on. Even when we are worried and scared. Even when we don’t want to. Even when it’s not fair.
Doesn’t change the fact that she is scared, and I am mad, and the permanence of this whole Cowden’s Syndrome thing really just stinks.
So she got to school and I kissed her and wished her luck on her math test, and she took her aches and pains, and her heavy heart, and her big brave smile, and headed off into school.
They are nice to her there. Really they are. But I cried on the way to my school, just a few minutes away. I am in a rut. I have to get past this anger… for both of our sakes. But lately I just feel mad.
Of course that’s not who you see when you meet us. You don’t see worried, and mad. You see our smiles. See we get life. Both of us do. On different levels of course, but we get it. We know there are so many people who suffer. We know how blessed we are. Our prayer list is endless. But some days we just “keep swimming…” and…(we)
I got the message at about 12:45. Meghan’s school nurse had called. I called her back to hear the familiar voice that I have come to trust tell me that Meghan “didn’t look right.” She was complaining of lights in her eyes. She was “off.” After 5 years in that school, I have received limited phone calls. When they call – I answer. So, with permission I headed out early.
I got my girl home. We sat in the dark room. I rubbed her eyes. She had a bit to eat. Eventually she tarted to perk up…the anxiety had gotten the best of her. All the makings of a migrane at 9. DAMN this syndrome. Leave her ALONE!
And as we wrapped up for the day. Much calmer than when we had started, there was happy chatter of girl things, and talk of sleep overs and normalcy. With a kiss and a smile she headed to bed. God, I love that little girl.
I got in the car to check in on my grandparents. The phone was off the hook. This is an ongoing event, and one we share lots of laughs about. I arrived to find them in their recliners, watching TV. The phone was in Pop‘s pocket – on.
I asked about their night and Pop told me the story of how he “pulled over a mat and snaked the toilet, a little bit at a time.”
“How old are you?” I asked.
He winked and smiled, and told me he forgot.
I guess it didn’t matter because everything was working just fine. But some days I feel like I might as well be 93 and he, 39.
As I drove home I thought about genetics, and environment and all those biology classes I hated in high school. I may not have inherited their PTEN gene, but I grew, and learned, and was taught in their environment. I grew up in a climate of a “can do” attitude. We did… because that is what needed to be done.
Still, at 92 and 93 my grandparents do what needs to be done.
I decided while I did not gain all their good genes, I gained their drive and determination. Their faith,stamina, and hopefully some of their wisdom.
I will get out of this rut. Cowden’s Syndrome will not own us. It will not win. We can do it, and we will.
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!
beatingcowdens 