Last Thursday, we packed up what felt like all our earthly belongings and headed down the coast to San Diego for the 2018 SBP Rare Disease Day Symposium and CDG Family Conference. (I say that because our car was packed to the brim with all of Emmett’s stuff, and he comes with A LOT of stuff.) The usually-sunny San Diego decided to turn cold and rainy for the weekend, so many of us Californians spent the weekend trying to convince those visiting the state and country that “it’s usually not like this!” It was an incredible three days for us anyway, as I’m sure it was for everyone that attended. We left energized and super happy to have found such a caring community for Emmett’s rare disease.
Some highlights from the trip:
- For the first time, we met other CDG families in person. We saw the range of outcomes possible for CDG children, spoke to other parents about the challenges and bemoaned the hardships our babies have had to endure with medication after medication. It’s an understanding only other parents who have children with complex medical issues can have, outlined with hope that only science and research can provide. Talking to these families, some of whom have been dealing with this for years and years, and seeing how it has increased their strength and compassion, is truly motivating.
- We met Matt and Cristina Might, whose son was the first to be diagnosed with a type of CDG – NGLY1. We spoke with Matt last month to get his thoughts on the treatments we were exploring for Emmett, so it was great to finally meet him and Cristina in person. Back in 2012, Matt wrote a blog post – Hunting Down My Son’s Killer – which quickly became viral and is still one of the most fascinating scientific journeys I’ve ever read. (Of course, I’m probably biased since Emmett went through a similar journey.) Two years after that was published, the New Yorker wrote an article about them which is available here: https://www.newyorker.com/magazine/2014/07/21/one-of-a-kind-2. Matt and Cristina have helped to put NGLY1 on the map, spurring numerous research efforts dedicated to it, and they’ve been an inspiration to us from early on.
- We reconnected/connected with the top physicians in the CDG space. The medical team from NIH, the doctor we saw in Seattle, Dr. Eva Morava (someone we’ve been wanting to meet), etc. It was like the culmination of all our consultations this past year.
- We found out a couple days before the conference that Dr. Murakami, one of the scientists in Osaka, Japan, who is helping with developing Emmett’s cell line for in vitro testing, would be there. So it was wonderful to meet her in person and have lunch with both her and Dr. Watanabe, premiere experts in the GPI-anchor field.
- We learned about different ways to think about researching treatments for a CDG. That includes looking at other genes that might impact the deficient gene [one of the projects being done for NGLY1 by the Chow Lab (http://www.chowlab.org/)], or thinking about other ways to allow the needed protein to be expressed.
- Steve and I participated in our first ever poster session like the true fake scientists we are. We actually got some interest and questions (yay!), which was great considering we were the only GPI-anchor family who attended the conference. (Andrew was able to attend the conference also, but he has been in poster sessions before so it wasn’t as novel to him. 😉 )
- We met Dr. Hudson Freeze, a glycobiologist and CDG expert who has been working to diagnose and research CDGs for the last couple of decades. Dr. Freeze is a professor and director at the Sanford Burnham Prebys (SBP) Medical Discovery Institute, who was a primary sponsor of the CDG Conference.
- We met Andrea Berarducci, who is the president of CDG Cares (that I mentioned in my last post). She is the mom to a daughter with CDG and a wonderful advocate for the community.
That’s just the tip of the iceberg, since the whole weekend was spent attending lectures, chatting with other families, scientists and physicians, and checking on Emmett (who my mom came last-second to look after) since he has been battling two different infections and the flu in the past 2-3 weeks. (This trip almost didn’t happen because his 105° fever landed us in the Emergency Room just 36 hours before we were supposed to leave for the trip.)
Walking away from the conference, I’m more confident than ever that there is a treatment that can be found for Emmett’s PIGA mutation.
There is a cure out there.
We just need to find it. CDGs, in particular CDGs in the GPI-anchor pathway (where Emmett’s mutation is), simply have not been well-studied, well-diagnosed, and well-known enough to create the awareness and raise the funding needed to make it a priority for more scientists and physicians. So that’s what Steve and I hope to help do. ❤
p.s. A couple people have asked me how they can follow the blog. Here are the instructions from WordPress:
How to Follow Blogs
If you have a WordPress.com account, when you are logged in, click the Follow button that appears in the bottom right-hand corner of all WordPress.com sites:
All new posts published on that blog will now show up in your Reader. You will also receive email notifications of new posts. You can change your settings to Immediate, Daily, or Weekly delivery, or opt-out of email notifications.