Rare Disease Day 2024

You know what today is? Leap Day, February 29th, the rarest day of the year, recognized as Rare Disease Day.

In years past I have been on the local news, sharing Cooper’s journey with the community:

February 28, 2015

In years past, we visited the Colorado State Capitol to advocate for those with Rare Diseases:

In years past I have been in DC, speaking with congresspeople about how to better serve those with rare diseases:

In years past, I’ve attended conferences to learn how to advocate for rare diseases. Later I helped lead advocates to Capitol Hill to do the same.

Rare Disease Week Conference – February 26, 2019

In years past I have been at Cooper’s school, doing activities and handing out cookies, raising awareness for Rare Disease Day.

Today I don’t have the energy to beat that drum. I hear the drumbeat – people around me on social media, my mom handing out cookies and raising awareness at church this morning, my memories popping up in what seems to be a million meaningful photos.

I feel guilty that I haven’t done a darn thing for it this year, so I guess here it is:

I’ve been at this for 10 years now. I’m done praying for a cure. Instead I pray for mercy. I pray for empathy. I pray for compassion and understanding. I pray that I can wholeheartedly embrace the present and lift Cooper up the way God intends me as Cooper’s mom. I pray that I am a good example of how to treat others.

I imagine I have a different filter on life than most people. I want to spread that filter to better help humanity, not just Cooper and those with rare diseases.

So yea, it started with Rare Disease Day and a bunch a statistics:

70% of genetic rare diseases start in childhood
5% of the population are currently affected by rare diseases (that’s 300 MILLION people worldwide living with a rare disease)
1 in 10 Americans have a rare disease
There are over 6000 identified rare diseases
72% of all rare diseases are genetic

Cooper is the face of those statistics. I’m making a difference NOW, with an impact bigger than our rare disease community. How about you?

Let’s start this way:

Embrace and include those with differences
Don’t stare, say hi instead
Don’t look away, say hi instead
Listen
Refrain from being judgmental
Smile

We are still funding Morquio research – answers and better treatments are out there and I hope that they are in time to help Cooper. But my time and energy is here with these awesome kids today.

All the feels for Valentine’s Day

February 14th means a lot to me.

4 years ago today, we were blessed to graduate from Team Training with Velocity, Cooper’s Service dog from Canine Companions.

Service Dog Velocity and Cooper on their match day, Feb 2020

10 years ago today, VIMIZIM was approved by the FDA for the treatment of MPS IVA. Cooper was diagnosed with MPS IVA in January of 2014, so we’ve been strapped into this rare disease roller coaster for a decade now.

Velocity is the first household member to wake every morning. This morning she waited until she heard my alarm to greet me at my bedroom door. I was so excited to rub that wiggly, tail-wagging butt this morning. It’s the anniversary of our “gotcha day”, and every day I am more thankful for her sweet soul, what she’s done (and continues to do) for Cooper and the joy she brings to the whole family.

Remembering our first plane ride home with Velocity, I started thinking about all the other plane rides she’s had – to all the surgeries, as well as a couple vacations and hockey tournaments. I remember being so concerned for her first few plane rides – did she need to pee? Is she comfortable? Is she disturbing anyone? Now she’s the least of my worries and by far the easiest member of our family to travel with.

Velocity’s first plane ride with us, Feb 2020

Thinking about all that Velocity has seen Cooper go through – four surgeries, hundreds of infusions, dozens of appointments. Makes me wonder what else she’ll see – what else we’ll see – what else Cooper will endure. We don’t know. We have ideas, but we don’t know. That’s the nature of this roller coaster.

Cooper and Velocity after Cooper’s surgery, July 2022

I’d like to say I’m a pro at this roller coaster by now. But I’m not. My stomach rolls when there is talk of possible medical interventions. I cry watching friends navigate their rare disease journies. I’ve learned that sharing our journey is therapeutic for me and connects us in ways I didn’t know we needed.

Today I am grateful for where we’re at. It’s been hard. I pray we can continue this roller coaster with the smiles, prayer and good fortune we’ve had thus far.

July 2022, enjoying a Wilmington Blue Rocks game before Cooper’s surgery

I can’t even sum up my feelings in a title

Today I left Cooper’s doctor appointment feeling devastated. I choked back tears as I dropped Coop at school, four and a half hours late. Why? WTH? Can we please get a frickin’ break?

In my head, today’s regular 6 month check in was going to be easy – check the boxes. Hug the specialists who have been taking care of us for nine years. Surgery recovery is complete and Cooper is feeling good! We’ve been seeing specialists this summer and have more visits upcoming. I think we are on top of it!

But this disease doesn’t stop. There is no respite.

Time to beef up Occupational Therapy and Physical Therapy. Have the Physical Therapist fit Coop for devices.
Too long since we’ve seen ENT – especially with Cooper’s new “loud breathing” I’ve been hearing.
Then there was discussion regarding a surgery that MAY be far in the future to help the breathing. Not going there yet, but we’ve scratched the surface, on the same day Coop complained the edges of his scars from July’s surgery are itchy with scab and stitches still there.
Hard discussions about mental health.
Notes to watch for symptoms of spinal compression. Imagine hearing this after you’ve been through two spinal decompression surgeries already.
Sleep study needs to be scheduled.
Do it all sooner rather than later.
Reminders to a picky eater and his mother to eat fruits and veggies. How did I not notice he’s dropped weight?

It is hard to process. It’s just so much. Relentless. As always, I will make lists and phone calls and we will drive all over to get the things done – to get us closer to the next step. I always thought the end of the list got us to a break, but it only brings up the next thing. It just sucks. And this is how I process it.

Thanks for hearing me out.

So what do we do next? Our friend Marty always says “There are no coincidences”, and I believe him. We happen to be going to Louisville, KY this weekend for the Rooting for Robert gala. But even bigger, Cooper gets to meet Robert, a little boy on the same Morquio journey we’re on. And our friend Colin will be there too – he’s fighting the same battles Coop and Robert do. Three rare little boys, one gala, hundreds of people lifting them up – raising money for Morquio research. Building community. So it’s no coincidence that after a hard appointment we get to gather with our community on Friday. And on Saturday, we’ll let the boys be “normal” kids again when we visit the Louisville Slugger museum. And they can be boys. No infusion, no surgery, no appointments, just normal boys checking out baseball bats. Sunday will be yet more fun – home again for Cooper’s birthday party, with a Savannah Banana’s theme.

I pray that one day Cooper and all those affected by Morquio will feel “normal”. I know Cooper wishes for it daily.

If you are interested in a great cause, check out Rooting for Robert.

You’ll find a familiar face in their video…

Hiding

Today, May 15th, is MPS Awareness Day.

Ever since Cooper was diagnosed with MPS IVA , this is a day I’d advertise on social media, at school, at the hospital. I’d ask friends and family to wear purple and post photos of all the purple. We did “Planks for MPS”, an ice bucket challenge, I jumped in a pool while wearing a dress. We’ve made boats and paper airplanes. Mom has made cookies for Cooper to share at school. Teachers have gone out of their way to recognize the day and wrap Cooper in support.

The day is a repeating appointment in my calendar. It’s there every year. I knew it was coming. Did I do anything? Plan anything? No. I’m wearing a purple shirt only because it’s one of my favorite workout shirts.

I don’t know if I’m hiding or fighting back. I don’t want Cooper and I to be defined by MPS anymore. It defines us enough. It has a grip on us – weekly infusions, yearly surgeries, what seems like a million extra appointments. Constant heartache as we navigate our son’s life with never ending challenges.

Every fifth grader at Cooper’s school gets to do a Ted Talk. the first line of Coopers talk is “ It’s hard being a 3 foot tall 5th grader” watch the rest of it here:

It’s hard being a 3 foot tall 5th grader

So it appears this is my MPS Awareness Day campaign. MPS sucks. Lift those affected by MPS and all rare diseases with your support. Your humor, shoulders to cry on, special moments of joy. Donate to research and support causes (Rooting for Robert or MPS Society) if you want and can. Pray for grace, peace and patience for the families.

I’m not donning the purple this year. I need to change out of this purple workout shirt and get to Cooper’s school. He has rehearsal for the talent show in 35 minutes, and I’m going to put my energy into that (and moving his 8 piece drum set upstairs, to the car and into school).

Overwhelm

When I feel overwhelmed, I just want to shut down. Can’t keep my eyes open. Its hard to breathe deep and I want to hide in my bed. This feeling scares me, because my usual response to stress is to jump into action. But not with overwhelm. We are only 10 days into this crazy month. The end of May means the end of school, end of Campbell’s hockey, many less commitments, projects, appointments and activities. Perhaps being overwhelmed this early is going to give me perspective for the rest of the month.

I’m fine. Everything is fine. Just sharing with y’all, because I know some of us are in the same boat. I’m here with a life vest, and an afternoon caffeinated beverage.

Exploring the gray area between “Hell Yes!” and “Hell No!”

I’ve been living by a new motto lately, “If it’s not a hell YES, it’s a hell NO.” It’s been liberating.

Then last month I was asked if I’d like to represent the MPS IVA community at the University of Minnesota Medical School’s Mucopolysaccharidosis Newborn Screening Meeting, providing perspective on what a newborn screen would have meant regarding an early diagnosis for Cooper.

Do I want to travel and spend a few days in Minneapolis?
Do I want to catch up on work at night while I listen to Newborn Screening topics during the day?
Do I want to watch my family coordinate what appears to be more complicated than the moon landing to cover for me while I’m gone?
Do I want to re-live Cooper’s diagnosis, feel all the things, share my feelings and experience with a room (and internet) full of people?

Not really. But is it important? Yes. I’m here.

Tomorrow is my 15 minutes of fame. So, what would having known Cooper has MPS IVA at a few days after he was born (instead of at 16 months of age) have meant?

earlier treatment (weekly Enzyme Replacement Therapy infusions)
connecting with the right folks (National MPS Society, Children’s Hospital Colorado) earlier
less symptoms for Cooper (medicine would have had 16 more months to work)
no diagnostic odyssey

Cooper had symptoms at birth, but we and his pediatrician didn’t know the symptoms to look for. Cooper was diagnosed relatively early. I know of other MPS IVA families that have had a horrific journey finding the correct diagnosis, and in the meantime, missing out on years of treatment. MPS does irreversible damage. Treatment slows/stops the damage – it can’t reverse it. So if there is treatment, and a way to diagnosis it, let’s know about it right away, OK?

While in Minneapolis, I figured I’d treat myself to the Minnesota Wild hockey game. I’ve been to NHL games by myself in new cities before – this would be fun and exciting! I love ice hockey! But after the last session today, I came back to the hotel. I took off my shoes and flopped on the bed. I took a nap. I watched reruns of The Office. I played a game on my phone. I lounged on the bed for four hours. I beat myself up for not checking in on work, not participating in the happy hour, and not going to the Wild game. But I was reminded I needed to relax. I deserve it. So my pampering today looks like a hotel room with the remote all to myself. Not the beach or spa I have in my mind when I think of “getting away”.

After my lavish downtime this evening, I put my shoes on, found dinner and drinks in the hotel bar, and watched the Colorado Avalanche game while I caught up on work.

Tomorrow I’ll share my experience alongside others in our situation – we have a treatment but had to find the diagnosis on our own. Then I’ll go home and participate in what I call “re-entry”. Just like a spacecraft coming back to Earth with astronauts, I’ll jump back in to family life.

Cooper called me while I was at dinner tonight. He needed to know where the note cards were. He is working on his Ted Talk that every 5th grader at his school does. Cooper’s first line is, “It’s hard being a 3-foot-tall fifth grader”. He goes on to talk about his disease, all his surgeries and how he feels when people gawk at him. Our short conversation made me realize this mission to Minneapolis was a “hell yes”.

Running on Empty

We’ve had a whirlwind of fun in our family this week.

First, an exciting (albeit frigid) trip to Toronto to cheer on 13-year-old Campbell and her hockey team as they competed in the International Silver Stick Tournament. We enjoyed the hockey hall of fame, ate poutine, fell in love with Tim Horton’s, visited Niagara Falls, and did each step in the warm embrace of our hockey family. Oh, and we watched hockey. We cheered with every ounce of our soul. As parents, I argue that we experience more stress watching than the girls do playing hockey – although I’m sure they burn more calories. We want so badly for each of them to succeed, to be proud, to win. I swear I have a new heart condition from being a competitive hockey parent. Which is competitive, the hockey or the parent? I’ll let you decide.

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A post shared by Christine Tippett (@caktippett)

The day after our return (Tuesday), Cooper, Velocity and I made the trek to Fort Collins, visiting Colorado State University’s chapter of Canine of Companions, Collar Scholars. Collar Scholars are CSU students who raise and train puppies for Canine Companions. It was Cooper and I’s first time visiting a Collar Scholars meeting, but guess what? Velocity was raised at CSU, so this was a return to her alma mater. She was a rock star, on her best behavior. I shared our journey – Cooper’s rare disease, his surgeries, appointments, infusions, struggles, and why he qualifies for a service dog. Cooper spoke to a room full of college students as if he had been practicing for it for years. We thoroughly enjoyed our visit with both the people and the puppies.

I guess we could say it’s Cooper’s first college visit? Check it out:

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A post shared by CSU Collar Scholars (@collar_scholars_csu)

Wednesday afternoon, Cooper and I visited DJs Slacker and Steve at Alice 105.9, to participate in the Alice Cares for Kids Radiothon benefiting Children’s Hospital Colorado.

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A post shared by Children’sHospitalCOFoundation (@givechildrensco)

Coop and I had met with them previously via Zoom, sharing our entire story. An audio montage was created from the Zoom call. I had the opportunity to listen to the montage prior to Wednesday’s visit, and I’m glad I did. I cried big, gut-wrenching sobs. Every time I share our story, it’s like picking at a scab. Remembering all of the appointments, the heartbreak, the fear and the diagnosis digs deep into the past, into my heart, into my head. Hearing our montage, the scab came off – way before it was healed. (It’ll never heal.) So Wednesday night we visited for the on-air interview. Prior to the interview, they played the montage. I’ll let you listen. It was a really fun and special event.

Montage of our journey:

Live interview:

ps. I’m sorry Cooper said he doesn’t think the Avalanche will win the Cup this year. I just hope we aren’t run out of town for his comments. LOL

So, as you can imagine, I’m a bit drained. The week has had intense emotional swings that have taken a t toll. I occasionally nap during the day. I’m exercising, drinking water and making sure I fuel my body appropriately. I am held tight by those who lift me up, but my soul is tired.

My task is not complete. My task will never be complete. Our journey won’t be hidden, forgotten or swept under the rug as “a bummer”. I share our journey to educate, to teach empathy, to embrace others with a similar path.

The last day of February is Rare Disease Day. I’ll participate in Zoom calls with our legislators and share our story again. I’ll ask for legislation that will help people with rare diseases. We’ll “celebrate” it at Cooper’s school and raise awareness there. I’ll draw energy from the excitement and then crash. And then do it all again (while cheering on Campbell, because I’m her mama too.)

Life Has Impeccable Timing

Today I held back tears as I watched Cooper walk into school. My 10 year old’s awkward gait and short stature really struck me as the sun accentuated his silhouette on the way to the door.

He’s now recovering from two surgeries – the spinal decompression and fusion in July as well as the hernia repair last week. As far as the hernia repair goes, Cooper can do whatever he feels up for, but the spinal fusion is still holding him back – no twisting of the spine/back allowed. Which means he still can’t play hockey, swing a baseball bat, or get into a basketball game with his buddies. He’s sad about missing his favorite sports. He tearfully wishes, “I just want to be like everyone else”. From my viewpoint, Cooper’s short stature is his biggest heartbreak. He wants to be on sports teams with his peers. No matter the size of his will and heart, he can’t keep up with competitive kids 18″ taller than him, and at this point, his spine isn’t ready for activity with other kids yet. Every day my heart breaks for him, but especially today.

An hour after drop off, this popped into my inbox from Children’s Hospital Colorado Foundation….

Yes, I have more than 400 unread personal emails. I just need a few moments to catch up on life…

But the article makes me cry. It’s beautiful, and it’s beautiful because it’s our story. (Click the title below to read it)

Child Life Specialists Help Cooper Feel at Home

And darn it – we won’t see those Child Life Specialists or any of our nurses this week. I don’t know when we’ll see them next. We’ve decided to move to home infusions. The Children’s Hospital Colorado system is so inundated with sick kids (lots of RSV), that Inpatient has taken over the Infusion Center space at the South campus hospital. So if we want to bring Velocity to a hospital’s Infusion Center, we need to go to North campus’s Infusion Center, an hour away.

Nope. I’m done.

We’re moving home. A nurse will come to our home and give Cooper his infusion there, hopefully after school. No more missing school. Definitely no more driving. Sweaty time won’t be confined to our room. These are all good things. But we’re going to miss the community at South campus. The community who wrapped their arms around us, stood us up and made us laugh for the last 5 years.

Moving to home infusions isn’t a simple task. From what I understand it’s an impressive amount of paperwork, approvals, insurance letters, and doctor’s responses. We hope to be set up for home infusion sometime in December.

So this is an ode to our medical community. We are eternally grateful. We love you and look forward to seeing you inside or outside the hospital very soon. And if we are outside the hospital, oh the fun you can have with Velocity!

Please consider donating to Children’s Hospital Colorado’s Child Life Services on behalf of Cooper and his friends at infusion. They’ve made a world of difference for Cooper and our family, and do so for every child they connect with.

The bottom of the hill

This morning Campbell and I took the dogs on a walk. Our sweet old mutt, Roscoe, is almost 14 years old. His hearing is going and his back legs don’t work as well as they used to. But he loves going on walks and barking at anyone who walks by our house. I feel like he’s living on borrowed time.

Our dog walk route is down the street, turn left, down Dutch Creek to the park at the end of the street. At the end of the street today Roscoe‘s back legs gave out. Repeatedly. He wasn’t in pain, but it was heartbreaking to watch him try to get up again and again. He managed to remind those back legs how to walk again and we made it home (very slowly), but at the bottom of the hill, the floodgates opened.

I wept. Watching Roscoe was the pin that poked the balloon. I cried about him, but then everything came to the surface. I sobbed about Cooper’s surgery (I don’t want him to need it. I don’t want him to go through it. I don’t want him to have the anxiety and the recovery.) I sobbed about how I don’t want to go camping, and that ruins my family’s plans. (I don’t want to tweak my back. I’m scared of the uneven surfaces and my partially broken ankle. I am crushed that this makes me sound old and broken.) I sobbed about Johanna’s red Subaru and how it’s totaled. (Here’s the lunatic part – just this morning I saw Johanna’s post about the Subaru. Am I attached to the Subaru? No. Last time I was in the Subaru? 7 years ago. But I am channeling all of the emotions today and I feel you Johanna.) I cried about it all. And more.

How ironic is that? At the bottom of the hill, needing to climb all the way up. One foot in front of the other, I cried all the way home.

I try to be a robot – strong, doing all the things correctly. But today I am human.

I have so many emotions after my last blog post. It’s hard to put myself out there. Sharing our experience is the easy part – it’s processing the events – after they happen, again when writing, then again in conversations that takes a lot of energy. I bottle up the feelings that comes with processing. But the emotion is real and needs to happen to get me to the next step.

I am grateful for my community. Everyone who reads my ramblings, reaches out, makes me smile, hugs me, assists in our journey. Thank you.

Although we have this hill to climb, I know we have a support team. In my mind, our team looks like the support car that follows a Tour De France rider. But ours is a like a clown car, because there are so many people crammed in there. ♥️

Cover photo (Dutch Creek with rocks and blue sky) courtesy of Campbell.

The Truth Hurts

You know the saying, “if you don’t have something nice to say, don’t say anything at all?” Today I’m wishing the parents at the pool would have taught that gem to their children.

I’m nervous in new places with Cooper – the stares, questions, comments. Due to his rare disease, my sweet, funny, sporty 9-year-old has many skeletal deformities and is only 38” tall (among other issues). Today I figured I’d get in trouble with the lifeguards for letting what looks like my toddler play in the deep in the end of the pool without a parent in arm’s reach. But instead it was a comment Cooper overheard from a child that ended the pool day.

Cooper came hobbling from the pool with his imperfect gait, grabbed his towel and curled up on a lounge chair to cry. He didn’t want to tell me what happened. I assumed it had to do with a pool noodle and his big sister. Cooper mentioned something about “everyone was bullying him”. I initially dismissed it. “Oh, buddy, I’m sure no one meant to hurt your feelings”. He said that what he had heard was so terrible, he didn’t want to repeat it to me. Somehow I got it out of him. He had heard, “He’d be a better swimmer if his chest wasn’t that way”.

I don’t disagree – he’d be a better swimmer if his chest, ribs and spine weren’t deformed. He’d be a better swimmer if his arms didn’t have a limited range of motion. He’d be a better swimmer if he were the size and shape of a typical 9 year old.

But those words hurt. They hurt so bad Cooper declared he didn’t want to be in public anymore.

He recovered. He chatted and snacked and laughed with our friends who were at the pool with us. As we left I noticed two boys staring at Cooper as we walked out. I perked up and said “Hi guys! Have a great day!” I was hoping it would be enough of a distraction, but also an example – let’s use words to be kind.

Are you ready for more truth that hurts? Cooper needs surgery again this summer. Spinal decompression and fusion, this time in the thoracic spine. (For those counting, that’s surgery #6). The good news is that recovery for this is one of the “easiest” ones yet! 5 days in the hospital (AI Dupont in Wilmington, Delaware), no brace, no cast, probably no physical therapy. He’ll be up and running again in a month. But this truth is so hurtful that we aren’t telling Cooper until mid-July. Please be mindful of this in your interactions with us! We want him to be happy, carefree and have fun this first part of summer break – not to be anxious and sad.

3 summers ago, Cooper had spinal decompression and fusion on his cervical spine – had the neck brace until February!

So today’s story gets better. We went to watch Cooper’s friend play baseball, and ran into more of Cooper’s friends and stayed to watch them play too! Watching Cooper be surrounded by the kids he knows and loves – that’s what we needed to end the day. One of Cooper’s friend’s grandfathers approached and wanted to tell me how he loves how Cooper gives his ALL in everything he does. True, this man had seen Cooper play basketball and not clean his room…. But yes, this kid has a heart a million times the size of a typical 9 year old.

So we need to protect his heart. We’ll tell him about surgery when the time is right. Until then, we make plans in stealth mode. Flight to Philly, 2 weeks in a hotel, rental car, hopefully time with friends and family the weekend before surgery. I pray for peace for his heart (and ours) as we navigate these decisions. I pray for smooth surgery and recovery. I pray for smooth travel. We’ve “been there, done that” with this trip, so we know the hotel, the road to and from Wilmington and the shady spots at the Wilmington Blue Rocks baseball games. If you are motivated to help our travel, we could use Hilton points or Southwest miles. But really all we need is support. Lift up our little guy. In prayer. In spirit. Good vibes. Be an example of kindness to and for people who are different.

I suppose Cooper may find this blog some day. Cooper, everything we do for you is out of love. I think you see it that way anyway.