#raredisease – Kelsey's Kaleidoscope

#RareDiseaseDay2022

Imagine that all of a sudden, your world stops.

Your family’s focus becomes a single, life-threatening topic. Home becomes the only place that is safe or manageable. Your physician is on speed dial. Doctors’ offices are the only place you have been in a while.

You monitor symptoms, wondering if one will lead to more. You think, “This will pass soon,” but weeks, months, even years drag on. Your only hope for change is out of your control, resting with specialists. Questions linger.

Rare Disease Day is celebrated each year on February 28 to raise awareness and celebrate the many faces impacted by Rare Diseases.

Every day life with a rare disease can be challenging. A rare disease during the pandemic has been something new and different. As we hope our global pandemic comes to a close, remember that rare diseases surround us.

Our Kelsey is our reason and our rare. We love her and thank you for supporting her rare.

#RareDiseaseDay #BeBrave

#RareAsOne

Mark Zuckerberg, Facebook Founder, and his wife, Dr. Priscilla Chan, committed to the challenge, “Can we cure all diseases in our children’s lifetime?” Daunting. Amazing. Fantastic idea! Can they do it? Here is to #hope…

On Monday, the couple announced one step in the right direction to conquer the challenge set forth in 2016. They will offer grants to 30 recipients to advance research, training, and awareness. Of the 30 selected, the dada2 foundation is one of the recipients to benefit from this large grant along with other resources over a two-year time period.

Wow. We only hope our small community of dada2 patients grows and the resources lead to a cure for our girl and the many others we know with dada2. Here is to hope and generosity in 2020…

#RareAsOne

Brave Day – THANK YOU!

Samuel Mickle Elementary School holds Brave Day for student with rare disease

This is how we braved:

Click here to read NJ.com’s story on Brave Day in support of Kelsey!

Thank you for your love and support!

Oh, the Places…

Oh, the Places You’ll Go! is a family favorite. Recently, while reading aloud before bed in anticipation of Dr. Seuss’s birthday, we thought, not only of all the places we hope our children will go. However, we also considered Oh, the Places We’ve Been…

You’re off to Rare Places!
You’re off and away! (Like it or not)

You have genes in your body.
and a rare disease to face
You steer yourself
in directions you don’t choose

You’ll look up and down google. Look it over with care.
About some you will say, “I don’t want to click there.”
With your legs full of scars and your joints full of pain,
you wish for the smartest to keep you all sane.

And you may not find any
who’ll want to treat you.
Rare can scare doctors
Rare means something new.

OH!
THE PLACES YOU’VE GONE!

You’ve been admitted and poked!
You’ve had labs and IV frights!
You’ve transfused Christmas Eve right through midnight.

Sometimes, you’ve lagged behind, because you’ve lacked the speed.
You’ve cried with the gang and hoped for a new lead.
Wherever you’ve traveled, you’ve wanted the best of the best.
Wherever you’ve gone, you sometimes just want to rest.

I’m sorry to say so
but, sadly, it’s true
that Hang-ups and Bang-ups
have happened to you.

You’ve had some unpleasant bumps.
And you’ve been in a Slump.

And when you’re in a Slump,
you’re not in for much fun.
Un-slumping yourself
is not easily done.

You have been to a place where the docs are not sure.
Some think to test this way and others want to treat that.
A place you could biopsy your groin or your chin! Thigh or ankle, please carefully pick.

Simple it’s not, I’m afraid you will find,
for some med-maker-uppers to make up their minds.

Sometimes you move toward a most useless place.
The Waiting Place…

…for people just waiting.
Waiting for a call to come
or a lab to process
or waiting around for a Yes or a No
or the results to show.
Everyone is just waiting.

Oh, the places you’ve been!
But on you will go
though the needles be foul
On you will go
though your vessels may prowl
On you will go
though the dosage is due
Onward up many
a frightening path, too
though your legs may get sore
and your body feels weak.

So be sure when you step.
Step with care and great tact
and remember that Life’s
a Great Balancing Act.
Just never forget to positively think.
And never mix up your white pills with your pink.

So…
be your name Kelsey or Maggie or Hallie
or Trey Ali Vanessa Anna Maria,
you’re off to Great Places!
Today is your day!
Show your stripes and get on your way!

The Story Behind the Smile

The story behind the smile… the story behind the photo is one of a child with a rare disease on the first day of school who found excitement covered by fear.

In this photo, large red lesions covered the skin of an otherwise smiling face and joyful young woman. A sweater on the 92 degree day was worn to mask the red posts along with high socks and a long dress strategically placed around the worst of them. Her positive and calm demeanor were met with anxious feelings and fear about what the other children would say if they saw.

She told kids they were bug bites. Then she was sick of that story so she said they were rug burns to others. Overall, she was scared. She told a story because she did not want to get into her disease with everyone (so she said).

The lies she had to tell others to feel confident on her first day of school were challenging to hear as a parent.

Consequently, the parents of a child with a rare disease felt anxious and were at a loss for words. Their brave child embarked on a new year in a way they never experienced before.

Sometimes the smile a child is wearing is not reflective of the feelings they face inside.

The story behind this photo is one we will not forget, but one we are proud to share to remind us all to share a kind word to make someone’s day. You never know what is going on behind the smile.

Uncertain normalcy

When you come home from two days of testing and consultations from the NIH with a positive outcome, you smile. Life is good. When your child wakes up the next day with new marks, you feel disenchanted. You feel like this cannot be happening (again).

You hope these new marks are just bug bites. You were just tested. You were just given a positive report. You send the pictures anyway and await symptoms or the onset of something else. You are in disbelief.

You shed a tear the next morning when the marks spread.

You start to worry more once the marks look like those you saw two years ago when lethargy and pain took over your daughter’s tiny legs.

You see the spread, you see the onset, you fear everything in front of you.

The village of support that surrounds you allows you to get through this hurdle, test appropriately, and inject as necessary.

You are scared and you are unsure of where this leads you.

Daily injections return to bring a sense of normalcy to an otherwise abnormal state of affairs.

You hope, you are grateful for all the doctors you have on standby, but you cannot help but feel … something words cannot truly describe.

Storms we hope will pass

Each Tuesday night is unique. The worry is constant and fear, worry, and sometimes anger are typical discussion points for most of the evening.

Tuesday evening was no different this week. The marks all over the belly and the back were. After a nice walk around a park and calming conversation, we thought our bedtime ritual would contain the easing of fears and the notion of sweet dreams ahead.

Instead, photos were taken, prayers were issued, and we are once again reminded of the mixed emotions we know the morning will bring.

The thunder outside echoes our inner fury and angst.

We hope the rain relieves the heat and our morning medication subsides our worry for another day.

Wednesday on Saturday

Wednesday Addams… a classic television character was the recent choice of a party we were invited to with an Addams Family Theme.

Wednesday, “the dreaded day” seemed fitting in many ways for Kelsey. The mention of the weekday sends a jolt of fear and frustration to Kelsey each week. We were surprised that she decided to dress the part, but being Wednesday “the worst day of the week” on Saturday made her smile.

Kelsey said that this was the first and probably last Wednesday she would enjoy talking about.

Wednesday on Wednesday does not have the same sentiment, but at least she found a way to smile for Wednesday (on Saturday).

Global truth

Though the passage of time in summer months seems fleeting, this summer is one where we are trying to savor the moments we have together in sunshine or rain.

As a week of storm clouds captures our summer days and nights, we have found time to walk/ride bikes in the rain, make slime, play games, and smile despite our recent fears.

Our social media connection to other patients around the globe has recently found several cases of dada2, the genetic condition which manifests as Polyarteritis Nodosa for our Kelsey, in India. Each story is unique and this global connection makes us feel a mix of deep sadness, empathy, and hope.

Each time a new patient reveals his or her struggles, strokes, or current health concerns, a sense of fear strikes internally. I read their stories with tear-filled eyes most of the time, wishing there was more I could say to ease their fears or comfort their frustrations.

The truth can be more sobering than we want it to be at times. This week’s stories and patient truth has certainly done that for our family.

We hope and pray for all families that they will not continue to face these fears and our global partnership will lead to the cure we all desperately pray for day after day.