Rare Disease Day- Video Recap

World Rare Disease Day is February 28th.  People all over the world will work to raise funds and awareness for over 7,000 Rare Diseases worldwide.  In our house things are buzzing, as we prepare to teach the world a bit more about Cowden’s Syndrome.rdd-logo-2

There will be so much time to write.  Soon.  Right now we are preparing for Rare Disease Day 2017 and “Jeans for Rare Genes 3.”  All the preparing brought me back to her video from last year.  And then I looked at the year before, and the one before that.  And I was struck by how much she has grown, not only in her technological ability, but also as an advocate, and a voice, and a human.

There will be no video this year.  It was time for a change of pace.  But, I thought it appropriate to post these here, now.  She keeps me grounded.  She keeps me going.

And then there was this…

http://blog.silive.com/gracelyns_chronicles/2017/02/inspirational_staten_islander.html

Together we remain

#beatingcowdens

Enjoy!

World Rare Disease Day – Advocacy and Awareness

World Rare Disease Day is February 28th.  Although the actual day is February 29th (the rarest day…)

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It is a day of raising awareness across the globe about the 7,000 rare diseases that plague 1 in 10 people.

Our fundraiser has ended for the year.  Our checks have been sent.  All that’s left for tomorrow is our denim ribbons and our shirts.  This day is right up Meghan’s alley.  Meghan, whose entire platform has become raising funds and awareness, relishes a day set aside for just that.

Although some days I suspect it would be easier to be an advocate, rather than a patient AND advocate, I suspect   am sure that we are more effective advocates BECAUSE we are patients too.

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I get that not all diseases, ailments, or medical issues are “RARE.”  I also fully understand that that doesn’t make one more important than the other.  It’s just that when you have a chronic illness, life is really challenging.  When you have a chronic illness BECAUSE of a RARE disease, that really has NO treatment, and definitely NO cure, some days the hill seems insurmountable.

I love someone rare

I texted my husband yesterday afternoon to let him know I was going grocery shopping.  He told me I was nuts.  A week post-op from vascular surgery that put 25 incisions in my right leg, he might have been right.  Except he didn’t argue.  Timing would not allow him to go.

Grocery shopping in my house is an endeavor.  I cross a bridge, and hit not one, but two stores – miles apart before returning home after about a 4 hour round trip.  It’s one of the few things easier in the winter – as I don’t have to pack ice!

Why such a journey?  Meghan.

Among other things I have learned from my daughter, she has inadvertently schooled her parents on the value of nutrition.  Meghan has had food “issues” since birth.  Slowly we have played and peeled away and adjusted her diet to be free of Gluten, Casein, and Soy, as well as most dyes and preservatives, and highly acidic foods.  She takes digestive enzymes with every meal, and a host of nutritional supplements.

She went from grossly behind in speech/ language to miles ahead.  She surpassed extensive sensory issues.

I don’t cook.  Ever.  But, I shop.  And it’s my job to make sure the tools are in place to whip up tasty meals for Meghan, and all of us.  My husband never disappoints.  He is creative, tasty, almost passionate about Meghan having a culinary experience she will enjoy.  He is fantastic.

I shop at Wegmans.  And at Whole Foods.  Most things Meghan eats are organic, and  by default a lot of ours is too.   My grocery bill is usually about half a mortgage payment every 3 weeks by the time I feed the dogs too.  It is the sole reason we don’t settle all out debt.  And it is worth every penny. Nutrition is without a doubt the best investment I have made into the health of my child.

The game changer was the addition of a nutritional cleansing program I have come to trust into her diet.  Felix has been using it for almost three years.  Meghan and I for about 18 months.

Felix needed to lose weight.  But almost as an after effect, after losing 50 pounds, he noticed he felt great.  I cautiously introduced the product to Meghan in slow, low doses.  Once I was clear she had no reaction, I went all in.  For well over a year now she has had a protein shake for breakfast every morning, and since starting school she takes a meal bar for lunch on school days.  Over 40 grams of healthy, well-digested protein a day, and this child has done nothing but grow!

Growth spurt?  Maybe.  But the hair, the skin, the nails, the teeth.  She glows of good health.  She missed her shake for 2 days a month ago.  She had a tough swim and felt awful.  Coincidence?  Maybe.  But she’s not even taking chances any more.

In my house we have a protein shake every morning, and Meghan has some organic, home-made waffles too.  We don’t just trust any protein shake.  Ours is high in whey protein from “happy cows” in New Zealand.  And my girl who can have no dairy at all without severe pain – tolerates these like nothing.

isagenix shake

Leaves a mom to wonder- maybe it’s not a “dairy” allergy, as much as a “what’s fed to the cows” allergy?

I could debate processed vs. natural vs. organic all day.  What I have here is results.

When you are fighting a rare disease, you need to have the best food in you as possible so you can battle like a champion.

Meghan got out of swim practice tonight.  She never gets out of the pool.  Her coaches know that.  I know that.

“It hurts Mom.”

Dropping stomach, smiling face…

She knows.  All of it.  Whether I say it or not.  She misses nothing the doctors say, and despite my wishes they ALL talk right in front of her.

She has earned the right to sit out.  Her coaches know how hard she works.  She waited for starts – to get a few in before Sunday’s Silver Championship meet.

On the way to the car she told me she wasn’t sure the knee would hold till May.

strength

I am still waiting for a call back from the orthopedist from last week.  Apparently her notes are being typed.  He can’t possibly speak to her case without them.  He saw 65 patients the day we were there.

The knee is swollen.  We will try ice.  Hopefully that’s it.

“What if it’s blood?”

“What if it’s not?”

That’s kind of how the conversation went.

Truth is, neither of us know.  So we will press on.  We have the main plan – the one that lasts till May.  And we have the back up.  The one where we just yell “plot twist!”  and go with whatever happens.

Why did I go grocery shopping last night?  For Meghan.  For her food.  And so she sees me press on.  Despite being hurt.  Because if I don’t press on through tough times, how can I ask the same of her?

My Mom may not have a “rare disease,” but I learned stubbornness, stamina and work ethic from her.

Rare Disease Day 2015.  It’s not so much about “celebrating” as it is about advocacy and awareness.

Because the under diagnosed, the underfunded, and the often ignored – matter.  Very much.

We are BEATINGCOWDENS… One day at a time…

Global Genes hit this one spot on!
Global Genes hit this one spot on!

The Speed of Life

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I am always amazed by the speed of life.

I don’t know why at this point I’m not used to it yet.  But, as I sit here with my leg elevated recovering from a vein stripping on Thursday, I find it hard to imagine it hasn’t been quite a week since “Jeans for Rare Genes” took place.

Rare Disease Day Fundraiser

Acknowledgements have been sent by Email.  Some are waiting for the mail, and others will be delivered to the local businesses that supported us in the next few days.  We wanted everyone to know that what we considered a lofty goal of $10,000 to be donated to the PTEN Hamartoma Tumor Syndrome Foundation, and The Global Genes Project has been surpassed.  The checks are still being counted, and the final payment from eventbrite is due any moment.  But it looks like the total will clear $12,000 before we are through.  Not too shabby for the vision of a feisty 11-year-old who has already begun to make tentative plans for what we will do even better “next year.”

PTEN logo global genes logo

And as I’ve digested the success, and have processed the overwhelming pride of a mother, and expressed our gratitude to family and friends near and far, (like the Yokleys from Colorado!)  I’ve taken some time to reflect.  Standing before a room filled with 150 of our friends and family on a bitter cold February morning left my insides warm and toasty from the love surrounding us.

Life moves quickly.  For all of us for different reasons.  But, with this syndrome x2 life seems to be literally swallowed by doctors, and tests and surgeries, with every spare moment trying to shove “normal” into the cracks.  We miss stuff.  A lot.  We miss friends, and gatherings and social events, and celebrations, and ordinary get-togethers.  We are absent more than we are present.  Our friends and extended family are often neglected as immediate family has to occupy any moment that isn’t already full.  I don’t actually remember the last time we had friends for pizza, or a casual summer gathering on the deck by the pool.

And I think about the pure innocence and wisdom of Meghan and Connor, as they finally met.  Two friends from miles apart, with a life altering syndrome in common.  Two bright, funny kids who have seen more than their fair share.  Two kids who get compassion, and understanding, and life.  Two sets of parents, immediately at ease with each other because we understand.  And sometimes that’s all you need.  And if you missed the two articulate, wise beyond their years, kids talking to the local news – click here.

I think about Georgia, a world away in Australia, and how she and Meghan have hit it off in a way only girls who share such a bond ever could.  I think how wonderful it will be one day to get them together too.

And I think about Ashton, older than Meghan, but a girl on a mission all the same.  And I think of all she has to offer the world, as she endures her 14th procedure on a stubborn AV fistula in her brain this week.  I think about all the prayers we say, and all the questions Meghan asks.  And her Mom.  My peer.  A Cowden’s patient too.  A school teacher turned full-time mother later in life.  Because it was meant to be.  I think about the hours spent texting and messaging.  And how I already feel so comfortable…

And I know that the room was full for them too.

I am grateful beyond measure for the ones who understand.  Who don’t give up on us.  Who stand with us, beside us, behind us, or just about wherever we need them to be.

help from my friends

I will resolve to try to reach out more.  I just don’t know how many more hours I can squeeze out of a week.  But I will try.  Because the speed of life is astounding.

Sunday some of my college friends were delayed to the fundraiser.  They were in the hospital with one, as her father was very ill.  Yet, they found the balance.  They stayed with her, and then came to us.

Thursday as I came out of I think my 7th vascular procedure I got the texts on my phone that things weren’t good.  Her Dad passed away Thursday morning.  My heart hurt.  It was ironic really, as I had felt my own Dad ever-present as I got checked in and prepped.  I got to thinking that out of 5 of us from college that I really stay in touch with, three had already lost a father, and one a mother and a brother.  How did we get to this stage?  How did life move so fast?  And although my own recovery will keep me from making it to her side tomorrow, – I know she will feel the love in my heart.

friends uplifts-the-soul

We have to try to slow things down.  Sometimes.

But, I’m not sure when.  Or how.  Because yesterday I sat in the back seat with my heavily bandaged leg, and we made the trek to Cohen’s Children’s Hospital on Long Island.  And we saw an orthopedist about Meghan’s knee.  Her vascular surgeon suggested we go – before the next embolization procedure in her knee.

Her MRI shows some damage to the knee structure.  “Blood is a terrible irritant, even in small quantities…” And I would imagine that this AVM, probably active since birth, has been slowly eroding the knee.  So there is swelling in the bone marrow, and issues with the patella, and all sorts of explanations as to why it keeps hurting.  There is no real solution, but a synnovectomy will get him in the knee.  He can “clean out” some of the scar tissue, and we can pray that gives relief and doesn’t provoke a “hyper healing” Cowden’s type response.  But we have to try.  They have to see.  It’s time to get a real baseline.

So they will present her case next week.  And we will hope that the recommendation is for the vascular surgeon to do his work on the AVM at the same time the orthopedist does his work.  Because the recovery from the embolizations is tough.  This one promises to be outright nasty.  “At least a week on crutches.  Minimum 4-6 week recovery.  PT to build back the strength in the thigh muscle.”  They will fill the knee with saline to get a clear view…

So he asked about her activities, and approved of swimming.  Almost relieved when she told him she had given up soccer and dance because they hurt too much.  He asked what strokes in swimming, almost tentatively, as if he was hoping for the answer he got.

“Butterfly is my favorite!”

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And he looked relieved as he explained to Felix and I that butterfly kick was best on the knees.  Meghan chimed in, “because you kick from your hips!”

We were once again impressed by her instincts and her depth of knowledge of her own body.  She gravitated to a stroke most hate because it probably hurt her the least.  We got the nod to let her continue freestyle and backstroke.  But breaststroke is off-limits.  Probably forever.  Ironically – she never like that one much anyway…

We asked about the timing of the procedure.  He thought before he spoke and told us he wanted to hear what his colleagues had to say.

We pressed him for early May.  The tail end of the CYO season.  The week after her first play, “Hairspray” at school.  He told us to take it very easy.  And if she doesn’t have another bleed before then, that’s probably a reasonable time frame.

“If… Probably…”

We should be used to all this by now.  But, I think you never get used to watching your child get beat up over and over again.  That’s why we pushed to try to plan… to try to squeeze in all the normal we can.  Because she can’t keep having the fun taken away for the medical.  It’s not ok.  But, we plan very tentatively.

The speed of life can be overwhelming.

Thankfully we have so many of you along for the ride.

Next Saturday, February 28th is World Rare Disease Day.

Next Sunday, March 1st is Meghan’s first championship swim meet.  Silvers.  For the 100 butterfly – naturally.

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