The yellow brick road feels a bit different for rare disease families.

There’s No Place Like Hope.  There’s No Place Like Hope. 

You might be right to say we at Global Genes got a bit cuter than necessary with our 2024 RARE Advocacy Summit theme: There’s No Place Like Hope.  True, the event in Kansas City is actually in Missouri not in the state of Kansas. But the metaphor found in the Oz story tracks very well with the experience of finding yourself in a strange, unfamiliar (and sometimes magical) world after getting a diagnosis of a rare disease and feeling desperate to find your path to help.

I’m not the only one who thinks so. 

Check out the blog post below from Effie Parks of the podcast Once Upon a Gene. She wrote this before she knew our event’s 2024 theme.

Then continue on to read a similarly themed piece I wrote after attending my very first Global Genes Summit in 2015.

And of course I needed to hear the thoughts from someone at The Yellow Brick Road Project, so I asked Dr. Nicole Glenn. Her gorgeous parsing of how the many Oz metaphors fit rare disease families rounds out our trilogy.

 A Journey Down the Yellow Brick Road: Rare Disease Edition

As I write this, I’ve just returned from our second international CTNNB1 conference in Ljubljana, Slovenia (which I will share more about soon). For someone who never got to travel as a child, this has been a remarkable journey. Growing up as one of 13 children, even Disney World was an unattainable adventure. Instead, our childhood was filled with the simpler pleasures of the “good old days” – camping at the lake, sledding down steep hills we had no business being on, and playing outside from dawn till dusk. Yet, deep down, I always longed to be a jet-setting traveler, mysterious and worldly.

It’s funny how life works. It took having a child with a rare disease to turn me into a globe-trotter. My son’s condition has led us on multiple adventures across the world, attending numerous rare disease conferences. And I must say, the best kind are the family conferences. There’s simply nothing like them. These gatherings impact not only the families directly affected but also all the stakeholders who show up in various ways – from sponsors to presenters.

At every conference, I brace myself for the inevitable, heart-wrenching question: “Will this therapy make a difference for my child since they’re older?” Sometimes, the experts provide a flawless answer. Other times, even a simple “we don’t know” can go a long way in ensuring parents don’t lose hope and disengage from the rare disease community.

One of my passions is ensuring families understand the value of the bigger picture, even when it’s not directly about their child. My son, too, might be “too old” when the time comes for effective therapy. I’m fully aware and practice to be at peace with that outcome. But knowing this possibility only fuels my advocacy, pushing me to leave a better world for future families. For that day when families have no idea who we are, who fought so hard to make their landing softer, they might think it was the work of some magical man behind the curtain, not realizing it was the entire kingdom of Oz – from the Lollipop Guild to the fearless Lion – who made it possible.

They’ll never know about a five-year-old named Lizzie who wanted to sell all the vegetables in her Grandma’s garden to make money for her friend Ford. This act of kindness sparked bake sales across the country among people inspired by a child’s initiative. They’ll never know that Ford is independent in his wheelchair because of those kids who sold carrots and rice crispy treats for him.

Every time I see a parent agonizing over this issue, I make sure to try and say SOMETHING useful, SOMETHING to keep them in the hot air balloon and prevent them from crashing. I hope that the rare disease community, who is literally creating the science and treatments behind the disease, will make it all seem like a dream. For us and for them. Although, maybe it will be an epic blockbuster movie with all the giants in our community who trailblazed for its success. I’ll take either. I just care that people don’t give up. That they feel the purpose and growth from helping in any capacity to make a change for the future.

Hope floats.

Leaders, don’t stick to the narrative that you’re doing this all alone and that your families don’t help. Families, don’t think your leaders have it all figured out and will grant your wishes. The quest is in ALL of us, and we can’t reach the end alone. Period. We must all show up, give something of ourselves, keep hope, encourage each other, and carry each other. We will wake up from this confusing and horrible dream one day, I know it. We will wake up and know that the next day, and the one after that, are gifts. We are courageous and can transform anything. We will not see the suffering we see now.

Let’s not wait for someone else to solve the problems we face. Let’s all be part of the solution. Whether it’s by attending conferences, participating in bake sales, or simply offering a kind word to a struggling parent, every action counts. Together, we can make a difference. Together, we can ensure that one day, waking up from this nightmare will feel like stepping into a magical, new world. Let’s be the heroes of our story, the ones who make the landing softer for those who come after us. Together we can make the impossible possible.

Together, we can turn our dreams into reality.

-Effie Parks, Once Upon A Gene

The Last Best Hope in Your Rare Disease Journey

Last week I was at the Global Genes conference for advocates of rare diseases. Hope was not only a theme or a tagline there, it percolated through even the most dire discussions of the roads ahead. For many facing a rare diagnosis, the road to hope (of treatment or a cure) goes a bit like this: identify a patient population, identify a gene, fund research, get a clinical trial, then phase 1, phase 2, 3 etc. For my son’s rare disorder Menkes disease, I suppose we’re fortunate to be pretty far down that road. We know the gene, have a clinical trial, have a treatment.

If you have a disorder rare enough to be in need of treatment through a clinical trial, you’ve likely been through some version of hell. You have a disorder with no proven safe treatment. Somehow after getting the dire news of your rare diagnosis you found out that your last best hope is through a clinical trial. Your journey to get a diagnosis undoubtedly had its own scares and worries, and shining like the light at the end of your dark tunnel comes the word: there’s a clinical trial for this disorder, and you might qualify.

The Wizard of Oz turns out to be just a man.

And it gleams like hope, your hope against hope. It shimmers like the Emerald City of Oz. Where just a day or two before you felt there was nothing to be done and nowhere to turn — your hell, like Dante’s had a sign reading “Abandon All Hope Ye Who Enter Here” — now the golden path unfolds before you. You need to go see the Wizard; he can help.

Until this moment you’ve probably been researching and hitting dead ends. Your local doctors have admitted to being out of their depth on this condition. Your friend knew a specialist you should talk to. You did and she turned out to be a specialist in not exactly what you need. When at last you’ve found the expert, the one to whom all the other doctors defer on this disorder, it feels like reaching the happy end of a long quest.
I don’t want to dash anyone’s hopes who may be on the road trying to get a clinical trail for their disorder.

But the clinical trial isn’t the end of the quest, and it may not be happy. Entering the clinical trial, like entering Emerald City, may bring you help, but it will likely bring you some disillusionment too. And the help you get might be far different than the help you were seeking.

– Finish reading this piece by Daniel DeFabio on The Mighty.

A Quest For a Cure Down the Yellow Brick Road
In 2016, four strangers found themselves metaphorically far from home, faced with the challenge of navigating a rare disease journey they never asked for nor expected. It’s incredibly difficult to walk such a a road by yourself, and so, united by their children’s ultra rare genetic disorder, these strangers came together to form The YBRP founding families.

As one of the families on this journey, the metaphor to the Wizard of Oz and the Yellow Brick Road couldn’t be more appropriate in my opinion. Rare disease is like a tornado, as it twists and turns your life upside down. It throws us off course and all we want to do is get back home, like Dorothy wanted so desperately to get back to Kansas. 

In order to do so, you have no other choice but to start on this journey, no matter how scary it can be.  And Dorothy dealt with a lot! Flying monkeys, wicked witches, sleep-inducing flowers, lions tigers and bears, oh my! Our road is so similar, fraught with seizures, hospital stays, surgeries, regression, medication side effects, and just the fear of the unknown.

Traveling the yellow brick road.

Like Dorothy, we start this journey so very alone. But along the way, if you keep an open mind, you will  meet those who will want to help you. The rare community is here to walk with us. Each advocacy group has their own goal in mind, their own reason for trying to reach Oz. Though the reasons may be different,  journeying together makes us  stronger. As the saying goes, alone we are rare, together we are stronger. 

The metaphor of the yellow brick road for HNRNPH2 neurodevelopmental disorder was chosen so perfectly by our founders, as it relates to the overall experience. It also perfectly applies to our children.

Like the scarecrow, our children struggle with neurological impairment, seizures, and cognitive impairment. The tin man struggles to move his body, so stiff and uncoordinated, which represents the physical struggles our children experience such as motor impairment, low tone, and orthopedic problems. The lion desires courage, like our children, who struggle with intense anxiety and fear trying to navigate a world with a body that limits them and makes them unable to trust their senses. And as a parent, I also relate to the lion, trying to find my courage to continue moving forward  for them.

In the end is there a wizard who will make it all better and get us home? We all wish there was, but we know there isn’t. The quest helps us realize that we, the parents, our children, and the community are the answer.  We empower each other, help each other realize what gifts we have, and partner with the “wizard” that is the medicine and science to help build treatments and maybe someday… cures.

– Dr. Nicole Glenn, international delegate for the YBRP 

• Effie Parks will speak at RAS 2024 on the panel:  Activate Your Community
• Daniel DeFabio will speak at RAS 2024 on the panel:  Help for Rare Caregivers
• Nicole Glenn spoke at RAS 2023 on the panel: I’m an Expert, Too! Communicating with HCPs
  
  

Kim Aldinger, Mike Porath, Daniel DeFabio and Nicole Glenn at Summit 2023