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”.