When we got Teddy's diagnosis back in 2015, it was an extremely bleak prognosis with no treatment plan because none existed. Seriously, we were referred for a handful of tests to make sure he didn't have issues with his heart or his kidneys because the research papers indicated those systems could be affected. But that was the extent of what we gained from his diagnosis from a medical standpoint.
More than a decade after PIGN-CDG was first diagnosed, no treatment exists. The reality is that so few people are diagnosed with PIGN-CDG (less than 100 known cases) that there's minimal interest in researching PIGN-CDG, much less researching and developing treatments. However, we have a unique opportunity to have a team research treatments for the disorder.
We first connected with Ethan Perlstein of Perlara through the World CDG Conference. Another PIGN family spoke to him, gauged his interest and availability to work with our disorder and coordinated a call for other PIGN families. Perlara has worked with other families and organizations to development treatment models, probably with the most well-known and promising one that I'm aware of being Maggie's Pearl for a different type of CDG.
In essence, there's not a single genetic mutation that results in PIGN-CDG. A handful of known affected individuals share the same mutation, but even within the same family the mutations can manifest differently. In Teddy's case, part of his gene from Dave was missing a piece whereas part of his gene from me had broken apart and reattached in the wrong location (a splice site).
Scientifically speaking, the PIGN gene is a common gene that is found in many other organisms, including yeast cells. This allows scientists to replication the mutations in yeast cells and then perform testing on the yeast cells. They can test existing drugs on yeast cells to see if they find promising results and can repurpose an existing medication to actually treat PIGN-CDG rather than just treating the symptoms that result from the disorder. (Tmost common and significant treatment is often for seizures, although many have a multitude of medications to manage a variety of symptoms).
This research is truly about doing the science and seeing where it takes us. There is no cure for CDG and likely will never be. There is not even a guarantee at finding a treatment. However, this is the single best hope we've seen in the decade since PIGN-CDG was discovered to find a treatment.
We don't know if this will result in a treatment that benefits Teddy. There's a possibility, although the skeptical side of me acknowledges it's more likely that a treatment will help other PIGN individuals more than Teddy who are more severely affected. Yet, it's an opportunity to help others, to give hope and to perhaps make this road easier for others in the future ... and best case scenario easier for Teddy.
So we're going to be diving into fundraising efforts in the next couple months. The researchers at Perlara have limited capacity for projects, and we just squeaked in with the PIGN project. The trick now is to raise the funds necessary to do the first two phases (develop the yeast cells and begin drug repurposing testing) in short order. We do need to act quickly, so that we don't lose essentially our place in line.
I'll share more in the upcoming weeks on fundraising opportunities, but I'm starting with simply sharing our fundraising page: CDG CARE (givelively.org) Your donation is tax deductible. Please consider a donation or share this post with others to raise awareness.
If fundraising is your jam and you're interested in helping in this adventure, please let me know. I'd be happy to chat with you, even if it's to learn from you.
Perhaps we should do accordion concerts for donations. If you don't pay to join the concert, I'm sure you'd donate to end the concert!
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