Rare disease patient groups – Saving Case at World Orphan Drug Congress USA

In Uncategorized by Caroline Hornby

Melissa Hogan of Saving Case kindly provided this guest blog post. Melissa attended this year’s World Orphan Drug Congress USA, and presented at the conference.

Last week, I was incredibly blessed to attend and speak at the World Orphan Drug Congress USA. Why did I go? First, because of course I’ll take advantage of any opportunity to speak about Case since he’s so wonderful. Second, I feel a responsibility to represent Case and our boys since they cannot speak up for themselves. Pharma and government need to try to understand how rare disease affects children and their families, especially when it is a terminal, incurable disease with a short lifespan. And finally, I want to absorb and learn more about all of the issues that affect the rare disease community and the pharma and other industries that serve it. I feel that that deeper knowledge and connection to the entire community can only serve my son and others better.

With that being said, it was an immensely helpful conference. The attendance was great, the topics were often insightful, and the connections with representatives from other patient groups, pharma companies, and vendors will be long-lasting.

I promise this post will not be a dry rendering of conference material, and you will appreciate reading to the end.

20120418 003419 Case enjoyed the World Orphan Drug Congress (& so did I)

Case was "speaking" with me as the first speaker of the 2012 US World Orphan Drug Congress USA

Case even made a number of appearances at the conference….. I confess, I cannot speak without a lovely picture or video of my son. So when asked to do so for my five minute speech, I could not bear to go on without him. So… what is better than a four-foot life-size cutout of an MPS child? Nothing, of course. Case stood with me for the entire speech, then made multiple appearances around the hotel (a la Flat Stanley, I’m told).

So here is my run-down of my experience at the 2012 World Orphan Drug Congress USA:

Tuesday: I left home on a 6am flight and arrived into BWI a little tired, took about an hour taxi drive (lots of traffic at morning rush hour) to the hotel, and was able to check in early. After a little prep time, I sauntered over (and when I say sauntered, I mean walked a …very…long…walk) to the conference area of the hotel to join the Siren Interactive folks for a workshop they prepared on Social Media and Rare Disease.

I was to be the patient speaker at the workshop and I have to say, the exercises really hit home to me as being in a family that self-diagnosed their child, a not uncommon group in rare disease. The participants began with a list of symptoms and were encouraged to use the internet as a means to diagnose their child and connect with others.

20120418 003458 Case enjoyed the World Orphan Drug Congress (& so did I)

Case met John Crowley of Pompe Disease research and current CEO of Amicus Therapeutics, made famous in the book The Cure and the movie Extraordinary Measures

A flood of familiarity swept over me. I remember having that list of symptoms and searching the internet. You may or may not know that in the two years before Case was diagnosed, I did collect some of his symptoms and google for a result. Mostly at the suggestion of my mom, who wisely knew all along that something just didn’t add up. I googled what I thought were his main symptoms at the time – laryngomalacia, pectus excavatum, persistent pulmonary hypertension of a newborn (PPHN), and choking. Here I was, thinking that I was using the proper “doctor” terms to search and the result was nada.

The result is still nada.

Now, one might question whether each of these is indeed a symptom of MPS, but my experience with other families is that each definitely are. Laryngomalacia is a clear symptom of MPS and the choking is often a result of that. Pectus, while not listed in the normal grouping of symptoms is a bone malformation, which is a symptom, and I have seen significantly more pectus in our MPS children than in the regular population. PPHN and other lung complications at birth are also more common, although one might not see them in a list of symptoms.

So the exercise of searching for an answer really hit home with me.

Then I spoke to the participants about our diagnosis story with Case. First, his symptoms, how he was diagnosed, then the effect that diagnosis then has on your life, your family, and your schedule for the foreseeable future.

Then I spoke about our story with respect to social media. I had what I thought was a really cool timeline that showed how what I call “lightening events” like diagnosis, and entering a clinical trial spur you on to action, whether it be in social media, fundraising, awareness events, or via some other means.

20120418 003709 Case enjoyed the World Orphan Drug Congress (& so did I)

Case was a fabulous greeter for the event

For me, it did create a flurry in social media, especially after Case entered the clinical trial. I spoke about how it felt urgent in me to share the experience since it was something our community had waited so long for and was so eager to see the results. Because another mom had shared her experience online, we were more willing to enter the trial.

So entering the trial rolled into a new blog, website revamp, Twitter, Pinterest, and the like. I think, and hope, that these connections have been helpful to others. I know they have to me.

The participants concluded their experience with additional work on connecting with providers and finding other resources online, as well as insightful thoughts from Wendy White (founder of Siren Interactive and a rare disease mom herself) and Eileen O’Brien.

This was a great introduction to the conference for me.

Tuesday closed out with a great dinner discussing the workshop and conference events with the Siren folks who had invited me to participate in the workshop. Great insights from that team.

Wednesday: I sure didn’t feel much pressure when I was asked to speak at the conference, especially a five-minute speech, right? But when it dawned on me that I was the first speaker and to be introduced by John Crowley no less, a legend in our field of parent fighters, I was a bit daunted. How do you inspire, motivate, share, and tell the wonderful story of your child in five minutes?

The answer is that you simply can’t.

20120418 003743 Case enjoyed the World Orphan Drug Congress (& so did I)

Case even got to explore the amazing Gaylord National resort

I did the best job I could to explain why I see Case as a success story in progress. He was diagnosed early (although we could get a lot earlier, like say, newborn screening?), there was a treatment for his condition (less than 5% of rare diseases have specific treatments), his treatment is covered by insurance, and now he’s in a clinical trial that we sincerely hope will save his life.

But my point in all of that was this…. Why can’t we strive for that same success for all those suffering from rare diseases?

We need to build the newborn screening programs.

Greater funding needs to happen.

We need accelerated approval pathways for rare disease drugs.

Pharma companies need to continue to try to translate their research across platforms to other rare diseases so more treatments can be available.

We need to move from treatments to cures.

20120418 003919 Case enjoyed the World Orphan Drug Congress (& so did I)

Flat Case meeting Flat Michael

I hope that my five minutes was valuable. Maybe all they did was stare at my cutout of Case and think of how cute he looked in his monogrammed doctor’s coat and stethoscope. If they did, that’s fine, as long as it made them think, “Wow, he’s doing so great. Let’s keep pushing so we can have the children themselves standing on this stage one day.”

I would love that.

I would love for Case to stand there and thank them for all their hard work, show them what it means to move from what many feel is a death sentence to a manageable condition.

If he can come with me to this event say, five years from now, that would be my goal.

So after me spoke Angus Russell, the CEO of Shire, the pharma company that makes and supplies Case’s intravenous drug, Elaprase, as well as his clinical trial drug, termed by me as Miracase. You can gather the meaning.

He spoke of the obligations of pharma companies to their patient populations and he, as well as the speaker after him, Mike Astrue, currently the Commissioner of the Social Security Administration, but formerly involved with TKT, the company that originally developed Elaprase and was acquired by Shire in 2005, spoke of the origins of Case’s intrathecal drug development.

20120418 004112 Case enjoyed the World Orphan Drug Congress (& so did I)

Case thoroughly enjoyed the dancing fountains at the resort

It was fascinating to hear about the beginnings of something that has now changed our lives.

So this was only the beginning of the conference. There was much, much more and I encourage you to check my Tweets page to review and follow along with my thoughts at the time of the conference. There were several insightful moments from speakers.

But some of the best moments were ones not in the brochure.

I met Lori Sames from Hannah’s Hope Fund. Did you know they won two $250K Pepsi Challenges and are poised to begin human clinical trials for gene therapy for Giant Axonal Neuropathy, a condition that may affect only 25 people in the world?

I met Megan O’Boyle from the Phelan-McDermid Syndrome Foundation. Did you know she wears a shirt that says “PMS: It’s not what you think”? And did you know that she was so kind as to drive me around Arlington to pick up a few items?

I met Sharon Hesterlee from Parent Project Muscular Dystrophy. Did you know she has fantastic ideas about conferences and website resources?

I brainstormed with these strong and smart women about how we best focus our efforts to help our children. Is it better conferences? Is it every ounce striving and giving toward gene therapy? Is it a registry so we can better collect the data of our children’s condition? Is it advocacy and awareness via the web?

20120418 004229 Case enjoyed the World Orphan Drug Congress (& so did I)

Playing hide and seek among the jungle

The answer is…


All of these moms, including myself, and the many other parents out there focus our efforts in different ways, and in the end, we’re all trying to provide better lives for our children and the children of others. This may come in the form of different efforts by different folks and different levels of time, funding, intensity, and direction, but we all have the same goal.

And that is why it didn’t matter that Lori’s daughter has GAN and not MPS, that Megan’s daughter has PMS, and not MPS. We are all the same. In the end, we are MOMS.