Just Let Me Know if I Can Do Anything….

Spoiler alert…

If they are messed up enough from something, a loss, a trauma, or literally ANYTHING that prompts you to ask that question, they are likely INCAPABLE of figuring out what they need, let alone asking you to do it.

My advice to you – SHOW UP.

My further advice is if you are not prepared to listen, sometimes to heavy things, or if you are not prepared to leave your judgment behind, and support them, KEEP GOING. When you offer to do ANYTHING, many times it will not be a THING. Many times it will be letting them talk out their pain, anger, grief, recovery, fear, difficult decision…etc.

But if you truly want to show up, and are prepared that they may actually reply in a way that requires you to do so, then I offer these examples of showing up in increasing levels of challenging in case you like to start small:

*When you are checking on someone, whenever possible, check DIRECTLY on them. Use their own cell phone. Text them. Call them. Checking on someone by proxy may be easier for you, but it’s not helpful to the person suffering.

  • Text. Even If you don’t know what to say. Text anyway. There a million cute emojis that can signal to a human that they are on your mind. Don’t assume they know. Again, if you were prompted to make the statement above, they are in a whirlwind of pain. They literally can’t tell you what they need. Except knowing you’re thinking of them helps. And they can’t know without you reaching out because they are not psychic. One. Single. Emoji. Counts.
  • Text words. Even if you don’t know what to say, but you are more daring than the emoji only suggestion above, use words. Simple words. I’m thinking of you. I hope you see a pretty flower today. You are loved. Or any variation of the above.
  • Text invitations for them. This gets a little trickier because you may have to try a few times. But, “Hey, I’m free for a few, do you want to vent?” Or “Feel like chatting? I can call.” Or, if you live close, “I’d love to pick you up and take you for an ice cream, cup of coffee, loud scream in the park, swing on the swings….” etc. are all good suggestions. These invitations make someone feel valuable, and not pressured. They make them feel like they are on your mind and worth your time. They are currently doubting this while feeling like they are “too much” for human contact and worried that they will drag you down into their abyss.
  • Call them. Now to some this is terrifying, but here is a spoiler alert. Cell phones make it easy to bypass calls that come at difficult times. So if you call them, and they can’t talk, leave them a voicemail telling them they are on your mind, and invite them to call or text you. Hearing your voice may be just what they need.
  • Offer to meet them. Doing something they like. On terms that are good for both of you. Maybe a walk in the park. (Someone did that for me last week and it was so amazingly helpful. 🙂 )Anything that no one feels cornered by works
  • Stop by. Yep, it might seem freaky in this age of minimal contact, but try it. Showing up in person to just sit with someone in their pain is amazingly therapeutic, and might make you feel good too. And when you stop by, be content to sit in a messy, chaotic space and need only a glass of water.

They likely do not want an opinion or a suggestion, or a platitude. If you feel compelled to give those… you may want to refer to paragraph 4 above the picture.

They may never choose to offload their burden, or they may do it repeatedly. I have found once you allow the “elephant” to sit in the room with you, and you acknowledge it is there it becomes an understood, albeit unwanted guest. But only once you have offered that “elephant” a spot in the room, and acknowledged that you see it, can things move forward. At that point, topics change for a time, and sometimes people even laugh. It’s incredible. And when the person needs you again it is so much easier, because they know the “elephant” a bit. They know it is there. No one needs to start from zero again.

If you have truly decided to show up, then whatever way you decide to show up. Do it. Don’t make yourself feel better by saying “I didn’t want to bother them.” They’re bothered. Their life is in turmoil. Your caring will not make them feel worse. I can almost guarantee it.

The older I get the less I understand social dynamics, and the more of a recluse I become.

I am pretty in touch with real life. I am totally aware that other people have epic chaos in their lives. As a matter of fact I would dare to say, when given the chance, I am a pretty good listener. To be honest, I enjoy the opportunity to listen because it means someone cares enough to share their life with me. But chronic illnesses are, well, CHRONIC. Genetic disorders are FOREVER. And I am finding that people, the same ones who can be so supportive in the moment, experience fatigue over the CHRONIC nature of Cowden’s Syndrome. I mean, there’s a pretty good chance every time you speak to Meghan or I there is a new chapter in the life of medical drama.

Sometimes we want to talk about it. Sometimes we want to ignore it. Sometimes we want to sit under a table in a dark room and cry. Sometimes we want to scream. Sometimes we are sad. Sometimes we are scared. Sometimes it’s an ugly combination of all of the above.

Most of the time we feel lonely and isolated.

Yet, we dust off and keep moving forward. Not in a quest for a medal or accolades, but with the fervent desire to do what we can to live the life we’ve been given to the best of our ability in these often faulty bodies.

A screening scan in August that was less than stellar tipped off a lengthy week in October that will bridge to another surgery for Meghan in January.

One day soon we will share more about it.

But for today I will leave this here…

Whether you are reading this because you know us, or this found its way into your path because you have someone in your life to whom you have said “Just let me know if I can do anything…,” please show up for them. In some way, shape, or form, show up.

I hate a lot of things about cell phones. I love the ease with which we can show up for each other.

Never in the history of text messaging have I seen or heard of someone who felt angry or sad that someone checked in on them.

In this age of disconnectedness… SHOW UP….

Tuck and Roll

Somewhere in the middle of Tuesday night when they were pulling blood pressures like 68/37 I started to adjust my head that we were not headed home Wednesday. I had hoped, planned and packed for Wednesday, but it was to be another “tuck and roll” kind of experience.

Overnight Tuesday was a different world from Monday. It was not because the pain was gone by any means, but because the pain care team here worked until they got her to a place where she could rest. You can’t heal if you can’t rest.

The problem with all these meds is many tend to lower blood pressure. Her’s runs low anyway. Those two things combined together to create a bunch of nervous PCAs, a whole lot of “redo” action by the nursing staff, and a bunch of pages to ortho and pain management. The good thing is she slept through most of that.

Over the last few days we have pieced together where a lot of the ancillary pain is coming from. Monday’s surgery was over 3 hours and had to be done with her face down. The bruising thought her chest area is extensive, and the numbness on the front of her legs can be attributed to this. Those things are likely to fade away well before the leg.

The leg though…

This surgery, although we knew it might be coming, kind of snuck up on both of us the week after Meghan arrived home from the semester.

This leg, and especially this tumor had been causing her grief since 2019. At the time she asked the orthopedic surgeon, who has been a regular part of her team since 2016, for an MRI of her upper leg. He agreed because anyone who knows Meghan more then 5 minutes understands that she knows her body, and something there was giving her grief.

When the scan was reviewed and the doctor started to brace us for an unusual finding, I remember Meghan saying, something to the effect of ‘Thank God you see it.’ As she showed him with her finger exactly where this beast was buried in her thigh. He was impressed that she was so on point as he verified with the MRI images, but not surprised. She was grateful for the validation that she was feeling a real “thing.”

The next few years we tried everything to get at this beast. First we tried ignoring it. Then we scanned. Then it grew. We asked about removal and were cautioned that it would be akin to “filleting” her thigh through a huge open incision. That was definitely not choice one.

By the summer of 2021 as she was preparing to leave for college, she had reached a place where this precariously placed tumor (in between the femur and the sciatic nerve) could no longer be ignored. We got a hematologist with an interest in vascular malformations to see her virtually the week she was leaving. She headed off to college with a script for lyrica. We tried to go slowly but relief wasn’t coming easily. Still, she did her best to do the things college students do, for better or for worse.

She is the epitome of, ‘Those who say it can’t be done should move over for the people getting it done.’

That year was for studying and for swimming and for trying to titrate a dose of this drug. It would likely not have mattered if it was a magic bullet (it was not) the side effects were just too much and by 2022 it was ditched and there was s new plan and a new interventional radiologist.

In 2022 and in 2023 – he worked to shrink this beast with cryoablation.

It shrunk the tumor a solid amount- by more than half.

But the pain. It has proliferated every aspect of her day to day existence. It is hard to know – until you know. Chronic pain changes you. This beast got in the way of anything that required too much moving, sitting, or just about anything else. It’s hard to be 20. It’s harder when you are trying to relate to people who don’t need pain meds just to exist. It’s like you’re side by side with them speaking two totally different languages. At some point you either learn the other language or move on. Very few people are fluent in pain.

This transition Meghan and I are working on, where I am trying to transition her into primary responsibility for her care, it is a delicate one. This year was difficult for Meghan for so many reasons, but the reason swallowing her up was the pain. I knew the call would come, and it did.

She called and asked me to schedule and MRI – just to see what was happening. She was stating that another cryoablation was not the path she would go, but she reached out to her interventional radiologist to try to troubleshoot the images. From his lens the tumor was markedly smaller, decreased by almost 2/3 from its original 4.5cm. He could not figure out why her pain was so much worse. He called and spoke with the orthopedic surgeon.

We got word that we should head to ortho to review his thoughts on the most recent images. We were expecting advil 800. He led with – Let’s get it out of there.

Tuck. And. Roll.

When it was almost 5cm he dared not touch it. Now at its current size he thought he could get it. One of the smartest men we will ever meet stared at her MRI images and described the constant pain caused by the location of this ugly beast. HE said to her, all the things SHE has been saying. He said that is in a terrible spot, between the femur and the nerve. He spoke of his access to nerve monitoring technology to ensure the motor nerves were not damaged. HE said she won’t feel relief until it’s gone and cryoablation took us as far as it could. I swallowed hard.

I knew at some point she’d need to let him try. Too many things stood to get BETTER if she got THROUGH to the other side. The surgery now on a markedly smaller tumor was going to require a smaller incision and made it seem attainable.

And before I knew it the surgery date of June 3rd was set.

The only way out is through.

So here we are. Night 3 in the hospital. Another additional dose (on top of her heavy regimen) just got administered as the pain started to creep out of control again.

She needs to move before she can go home. She knows. She needs to move because it is just better for you. She know this too. And she will, but she can’t yet.

There is no frame of reference for this surgery. It’s nothing typical. There is nothing to base the experience on. Just Meghan. We have to let her body lead.

Occupational Therapy got us through a wardrobe change and a move to the chair in the room.It was a 20 minute session of activity. The muscle spasms on the back end of that, would have been enough to make me want to stay still forever.

But tomorrow she will move again. Residents and rounds and PT and OT will visit. The pain care team will come too. What I’m almost certain will not come are our discharge papers. And that is ok. As much as I am desperate to leave, I can not take her home too soon. There are times in our lives where we have to tuck and roll. These times are no strangers to us.

On Monday the surgeon dug in, literally to the bone and extracted two inches of muscle along with this tumor beast.The hope is that once this very ugly painful time passes, that maybe the tumor pain, and the chronic sciatica, and all the other ugly after effects of this beast will go too.

But,not today. And not tomorrow. I am trying my hardest to trust the process….

I am working on managing expectations. My goal is to find a sweet spot in this parent recliner…

The last of the dilaudin is in. That is my clue to close my eyes….

Milestones

When I started this blog just about two and a half years ago, it was to serve as therapy for me.  It took a while before I even started linking my posts to facebook.  I didn’t pay much attention to the stats of the blog, except to occasionally marvel at the random countries my blog was being read.

This week while searching the year that was, I happened to notice that this little blog has cleared over 100,000 views!

100000_thumb

Stunned.  Amazed.  Humbled.  Grateful.

I think of the people who have reached out to me through this blog.  People looking for an ear, or a point in the right direction.  I think about the newly diagnosed who have come my way a few times, and have been relieved to learn everything can be ok with Cowden’s Syndrome.

I think of the blogs I follow, of people with and without Cowden’s, and all I have learned.  Most especially that WE are not alone.

I think that spirit of companionship, whether it comes from a country across the world, or a city nearby is a factor in what motivates me to keep writing.

But, mostly blogging is my therapy.  My free therapist.  The computer is my listener.  Where I can air my thoughts and ideas, and worries and hopes and dreams.  And then I can edit myself into the positive mindset necessary to press on.  This blog keeps me away from the negativity and the despair that can sometimes accompany this life.

smile-its-free-therapy

And yesterday as I recapped “The year that everything broke…”  I was reminded of all the blessings that came our way in 2014.  And despite the lows, there always seemed to be someone, somewhere, with some random act of kindness, who was able to help us turn things around.  For all of these people – and they know who they are – accept my gratitude, OUR gratitude.  For really this is our story.

Although I am not much a fan of “New Year’s Resolutions,” or proclaiming that things will be drastically different in the minute it takes to pass from 11:59 PM on December 31st to January 1 at 12:00 AM…  I wanted to highlight some of the positive things that have gone on for us in 2014.

We began last year, much as we will begin this year, preparing for Rare Disease Day.  In February there was an assembly at my school.  We gave out ribbons to all the students.  Meghan and another family, two dear boys who had been affected by a different rare disease spoke.  They opened some eyes that day.

cropped-movie-night.jpg

And in the midst of that assembly Meghan met Borough President Oddo.  The two struck up conversation like old friends.  Meghan immediately respected and admired him, and he has become a mentor of sorts.  They are in Email contact, she has been to Borough Hall to visit a few times.  He was really the impetus behind Meghan believing there is no limit to the difference she can make in the world.  He continues to encourage her as she plans Beating Cowden’s First “Jeans for Rare Genes” fundraiser on February 15, 2015.  I feel so fortunate for her to see such a positive role model who changes the lives of so many just by being himself.

Meghan chatting with Borough President Oddo!
Meghan chatting with Borough President Oddo!

Meghan's friend has been a great support in so many ways.
Meghan’s friend has been a great support in so many ways.

We had a fundraiser last year as well, and raised several thousand dollars which was donated to The Global Genes Project.  Satisfaction.  “For the babies who really need it, Mom.”

In February also in the midst of what was almost a train wreck around a bad snowstorm and a carefully orchestrated thyroidectomy, I frantically called in desperation to get us into NYC the night before the surgery.  Ultimately we ended up with the greatest gift, as we were privileged to spend a few hours at Ronald McDonald House in NYC.   The facility, the employees, the organization – all phenomenal.  Our Guardian Angels were active that day!

Ronald McDonald House

Our Room
Our Room

Meghan received some awards this year that made us very proud.  In the Spring she was selected as “Staten Islander of the Week.”  At graduation, she received the “Portrait of Courage” award.  In the summer she received a nomination from the Global Genes Project for their “Teen Advocacy Award.” On my birthday she received a “Kid of Achievement” award from the Staten Island Children’s Museum.   She was starting to get the idea that SHE can make a difference.

Meghan 2014 Nominee for Global Genes Project Teen Advocacy Award
Meghan 2014 Nominee for Global Genes Project Teen Advocacy Award

2014 Kid of Achievement - Staten Island Children's Museum
2014 Kid of Achievement – Staten Island Children’s Museum

In July the Borough President’s office arranged for Meghan to throw out the first pitch at a Staten Island Yankee game.  And this girl who had never thrown a ball before received a crash course from some great friends.  Not only was the pitch a success, but the number of friends and relatives who joined us at the game, wearing “I love someone with Cowden’s Syndrome” T-shirts, was beyond touching.  We are loved.

SI Yankee 2014 B1

August saw the overcoming of a lifelong fear of roller coasters, for both of us.

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And in the fall we saw the first glimmer of hope that Meghan’s dream for a denim ribbon necklace was steps from being realized.  Exciting times all around.

It looks like it will happen- SOON!
It looks like it will happen- SOON!

We capped the year off at the Stone House at Clove Lakes, with another family with a different rare disease, lighting their Christmas Tree to help raise awareness of rare and genetic diseases.  Meghan’s intermediate school chorus came out on that chilly night to support the cause.

Meghan and Uncle Chris at The Stone House
Meghan and Uncle Chris at The Stone House

So Cowden’s Syndrome, while it creates more than it’s fair share of heartache and obstacles, also creates opportunity when we look for it.

Just like we notch off and remember each surgery, and the milestone of overcoming the recovery, we also acknowledge, enjoy, and savor the positive milestones.

We remember that “everyone has something.”  We are grateful for the blessings in our lives.  No one’s life is perfect, and far too often we all suffer from the belief that someone else’s “grass is greener.”

May each day hold for you enough positives to counteract the negatives, and the ability to look for the good in all situations, people and places.

That is my wish for my family and friends near and far, not just for the new year – but for every day of your lives.

Visiting Daddy at work on the New Year's Eve Ball
Visiting Daddy at work on the New Year’s Eve Ball

 

Champions of Hope – Global Genes Project

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

I have always wanted to be a doctor!
I have always wanted to be a doctor!

Puzzle Piece

I remember being much younger and loving puzzles.  We would set them out on the table at home and everyone would take some time trying to get it going.  They were big and had lots of pieces and were often slow going at first.  Everything looked the same, and sometimes it could take hours to fit in a few pieces.

Then, over the next few days, and sometimes weeks, with everyone taking a turn, slowly the picture would start to take shape and the puzzle would come together.  It was always so exciting once you could make out the features, and so much easier to plug in the missing pieces.

puzzle 2

I remember the feeling of satisfaction as one would be completed.   There was something especially gratifying about those last few pieces.  It was that feeling of satisfaction.  We set out minds to this.  It took a few of us, but we got it done.  We figured it out – together.

By now you can probably see where I am going with this.

Today marks one year since I wrote my first blog post in 2012.

one

In one year the posts I have written have been read over 30,000 times.  People have stopped by to read some – or all of our journey with Cowden’s Syndrome.

30,000

I have met other Cowden’s Sufferers through this blog, and on the internet.  I have received messages, and corresponded with quite a few.  I have learned their stories, and heard about their puzzles.

puzzle 3

I have also “met” a few with other puzzling disorders,figuring life out and getting by one day at a time.

I am sometimes  forever humbled, and amazed by the odd and abstract idea that people who I don’t know have gotten to know us, and used us as pieces to help complete their own puzzles.

I noticed a link on my blog today from “pinterest.”  Having never been to the website, I clicked the link to find a picture of my family.  http://pinterest.com/pin/290974825894950598/

I was pleased that it was used in its proper context, and was mentioned in terms of rare diseases.  But, I was still amazed.  Someone had read, and linked, and…

Well, the possibilities are endless.  Thank goodness for the internet.

Where else would I meet people from all over the world,. and swap stories about a genetic disorder with an occurence rate of 1 in 200,000?  Where else would I find organizations like

PTEN

PTEN World https://www.facebook.com/ptenworld?fref=ts

Or

hope its in our genes

The Global Genes Project https://www.facebook.com/globalgenesproject?fref=ts

This last year of blogging has been an awakening for me.  It has opened my eyes to so many other people, their stories, and the world at my fingertips.  Since our diagnosis in the fall of 2011 it has become so important to become aware, to gain support, to advocate for others, and for ourselves.

I remember working on puzzles as a little girl.  I remember that feeling of satisfaction when the puzzle was complete and the picture was clear.

I don’t do those kind of puzzles anymore.

Now I figure out how to prepare 2,000 denim ribbons and get them distributed on time for Rare Disease Day.

denim ribbons

Now I work on helping my girl find her place in this world – trying to be a “regular” kid, yet undergoing so many more stressors than any 9 year old should.

I work on puzzles that lead us from one doctor to another, dropping them like leaves off the trees on a fall day.

I work on puzzling questions, and I persist until I get answers.

puzzle 1

I get overwhelmed sometimes – looking for the pieces I can’t seem to find.

Sometimes I want the puzzle to have its edges all done, the way I learned.  I want it to be neat.  I would like all the matching colors to go together

But, that isn’t how life is designed to be.  Not with Cowden’s Syndrome.

Not for any of us really.

Maybe it’s not a puzzle – but more of a domino game… branching off in so many different directions.  Occasionally stopped by a dead end – only to find another path.

Or maybe it’s just a puzzle of an “atypical” sort.  Not one that actually fits in a box.  One that requires patience, time, dedication and focus.

Thinking_Outside_The_Box_by_mclelun

In front of me tonight are 22 pages of blood work drawn on my daughter over the last month.  There are some definite issues.  My phone consult with her doctor is a week away.  In the mean time I am left to try to put it together the best way that I can.

I handle each piece delicately, gingerly.  I don’t want to damage anything, or miss anything either.

There is no picture, no model to duplicate.  There are no directions.  No guide.  Just instincts.  Prayer.  Love and support of friends far and near.

broken pieces into masterpieces

Tonight I will study until I can figure out one more piece.  Then there will be tomorrow.

The journey is long.  The puzzle evolves.  I am not going anywhere.

Thanks for sticking around.