Category: Rare disease advocacy

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.

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:

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.

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.)

Reflecting on our journey

On infusion days, Cooper can be found WIDE AWAKE long after his bed time. He’s happy and chatty. Tonight, he couldn’t fall asleep in his bed, so he grabbed his book and crawled into our bed to read until I could join him. He finally wound down and closed his eyes. As I watch him peacefully sleep after a long day at the hospital, with Rare Disease Day quickly approaching, my heart had some things to say…

Thank you Lord for this journey with Cooper.

For the empathy it continues to teach me.

For finding my voice as an advocate for Cooper, and figuring out how to advocate for myself at the same time.

For the compassion I have grown to have for people in all walks of life.

For the angels on earth we meet along the way – those who lift us up.

Please give me strength to fight the battles.

Please give me wisdom to know which battles to fight.

Please give me grace to be the mother I need to be for both Cooper and Campbell.

Please give me the energy, words and actions to pay it forward and adequately recognize and thank those angels among us.

Thank you for this journey. Please continue to show us the way.

Amen

Reflecting on Rare Disease Day on Capitol Hill

This last February, I participated in Rare Disease Day on Capitol Hill. For Rare Disease Day – February 29th (the RAREST day of the year or the last day in February), rare disease advocates visit their legislators asking for NIH funding, we asked for MPS related language in the Appropriations Bill, and voiced our support of the OPEN ACT. This was my second trip to DC to participate in Rare Disease Day on Capitol Hill. It was logistically easier than the first time, but the second time provided emotional challenges I didn’t expect.

After my appointments with my legislators, I aimlessly wandered around the park outside the Capitol. I had done everything I came to do. I knew I wanted to take the following photo, and it surprised me that I had to choke back tears when I pulled out my “I advocate for #SuperCooper” sign.

I stalked a couple of older gentlemen lingering in front of the Capitol, and judging from one of the guys’ Wyoming baseball cap, figured they’d be friendly and help in my quest for a photo. Turns out one of them lived in Littleton and went to my rival high school. Small world.

This was my first take of the “I advocate for #SuperCooper” photo. Photo credit to the Wyoming guy and the Littleton guy, who should not be in charge of tourist photos, as evident by the landscape crew who appear to be standing on my head.

After parting ways with my photographers, knowing I would take a better photo later, I put my phone away and just stood there, dumbfounded. The tears were back, in full force. What was this emotion? Was I proud? Sad it’s over? Missing my family? In an attempt to clear my head, I aimlessly walked some more.

I’m a glass half full person, always have been. Telling our story – Cooper’s story, every time – it takes me back to reality. “Cooper is suffering from a rare, progressive, life limiting disease.” This is what I told every legislator I met with. As I see the other person’s face fall when I describe my 5 year old’s pain, and what is happening to his organs and his skeletal system, I bring them back up with, “He’s the biggest sports fan I’ve ever seen”. I regale them with tales of playing football, hockey and baseball in the hospital’s hallways on infusion day. Then I move on to how we are blessed that Cooper’s disease is one of the 5% of rare diseases that have a treatment. And I have faith the treatment is helping his organs. We’ll address the skeletal issues with big, scary surgeries. But we’ve still got Cooper, and he’s loving life. So I leave the legislators on a high note, because that’s who I am.

On this trip, I had time to sit and connect with parents who aren’t so different than I, but their son or daughter can’t play sports anymore, or is fighting for their life, or has gained their angel wings. The reality is back, and it can’t be fixed by a quick change of subject to Cooper’s sports craze. It’s amazing and inspirational to see the light that these parents bring.

In sharing with the other parents, we were often surprised when we heard they had OTHER kids! Unaffected kids. And then we cried together over the guilt we felt for overlooking the unaffected sibling. I am certain those siblings are going to be fine. Dealing with a rare disease brother or sister has given them a skill set that life doesn’t usually hand out.

I tried to digest all these thoughts as I wandered through the park. I realized that in order to get what we need for Cooper, and others like him, I must strip away the smiley emoticons, and remember the terror of diagnosis. I must share the tragedy of a rare disease. I need to be real. And the simple motion of pulling the sign out of my purse and reading the words made it all very real again.

I advocate for Cooper. I advocate for MPS families. I advocate for Rare Disease.

Photo credit: young lady who was snapping selfies and complimented me on my tennis shoes (that I have cropped out of the photo)

So for life in general, the optimist can come out and we move forward in a happy place. But when the medical decisions get difficult, when we need help from our elected officials, and when we work on how to support our MPS families, I know what the truth is, and how to address it.