Ashley: Hi, I’m Ashely Johnson, this is the HealthMakers Show. I’m joined today by Monica Weldon with Bridge the Gap – SYNGAP Education and Research Foundation. Thank you so much for joining me today.
Monica: Well, thank you. I’m really excited to be here and I’m thankful for the opportunity to share.
Ashley: Awesome. So, tell us, tell us your story about Bridge the Gap – SYNGAP.
Monica: Oh, my goodness. Well, I’ll put it in a nutshell. My son was diagnosed with this disorder in 2012. He was the first one diagnosed at Texas Children’s Hospital. We kind of went in for the diagnosis and the doctor handed us one paper and said, ‘We only know that he is going to have intellectual disability.’
Ashley: What do you call this disorder?
Monica: It’s called SYNGAP1 syndrome and it’s a single gene mutation that’s on the SYNGAP1 gene that makes the SynGAP protein, which is short for Synaptic GTPase-activating protein.
Ashley: So, what did you do next?
Monica: Well, after I got the diagnosis I reached out to the physicians and started researching. Then, I started blogging, and as I was blogging, putting our diagnosis as SYNGAP1 in the blog, I put tags, and I had a parent of a child with SYNGAP that was diagnosed reach out to me. When she reached out to me, that’s kind of when it all happened on a two-hour, midnight conversation of two people who no longer were alone in the world.
Ashley: So, it must have been super emotional to meet somebody else in the world going through this. Tell me about that.
Monica: It actually was. I think I was jumping around the house telling my husband that, ‘Beckett found his girlfriend! Oh my God, he’s got his girlfriend! We have another SYNGAP little girl.’ I was so excited, and we ended up making a—we got on a phone call maybe two nights later when we had time, and we were on the phone, I think, until 2:00 am in the morning just talking and comparing. Just that connection made all the difference in the world to keep moving on, and even if you had no treatments it still was something that you could never feel alone walking through.
Ashley: So really, this is how the foundation all began, right?
Monica: That is pretty much the cornerstone is finding this parent, and in the United States, even though she lives 1,000 miles away it was still something that we grew on. As we began the Facebook page, and we started interacting with the doctors that I had found, that is when everything started to congeal and come together, and we were like, well, the only way we can make anything happen is we actually have to start an organization. There was no other organization in the world. My husband thought I was crazy because—
Ashley: It’s not easy.
Monica: No, it’s not. He was like, ‘Do you know what you’re doing?’ ‘No, I don’t but I have to do it.’ So, I told him that’s what I was going to do. I studied, I taught school at the same time, I ran the organization for two years until I had to quit my job. My husband was not a big fan of me quitting my job, either, to run the organization, but I knew in my heart that this was the calling that I had and if I didn’t do it I would never have forgiven myself in the long run to try to find a way to help these children and help my son at least have a chance at a better life.
Ashley: How big is the organization today?
Monica: Well, today we are in our third year. Our fourth-year anniversary is coming up in September. We have 8 scientific advisory board members. I have to honestly say they’re the best in the world neurologists, and when the FDA says I have a super star-studded scientific advisory board, I believe them. We have 8 board members. Currently, we have 250 patients identified world-wide, which is incredible. I took last year to try to get this gene on any gene panels for genetic testing, and since then, and since we started the organization we went from 24 patients in our Facebook group to now we’re probably about 170 in the Facebook group, because not everybody does Facebook. The recorded number of cases is about 250, and moving forward, our scientists believe we’ll have anywhere from 200-300 new cases every year, from here on out.
Ashley: Now, is that just because of the new education?
Monica: It’s education and also genetic testing is becoming more readily available.
Ashley: So, is Beckett’s girlfriend and parents still part of the organization?
Monica: Absolutely. She’s the one who keeps me in check. She’s actually our patient advisory director, so she’s our patient engagement person, she’s the one who is the link to the families. She doesn’t like to be on camera—I love you. She goes, ‘You like all that stuff, so you go do it,’ but she is family oriented. We have a stellar board. Everybody offers their unique talents and skills and keeps us going. We’re small but we’re mighty.
Ashley: So, what’s the outlook in making progress?
Monica: Oh wow. Well, I have to say that when you talk to people in the research and the rare disease space, our organization is pretty much moving at light speed, which I’m shocked, because I don’t know any different. You just kind of do what you need to do to get there. Currently we have close to about $22.5 million dollars in research going on that I didn’t have to raise personally, but we back that and support our scientists with any kind of data they may need to support their research as well. Hopefully, within the next two years we will have some kind of drug target that we’re looking for right now with the grant that one of my scientists just won last year. If we hit on a target, it’s on. I mean, then we can really start looking into the biotech industry and pharmaceutical companies to hopefully maybe even create some kind of medication.
Monica: We’re in what we call drug discovery stage right now, or pre-clinical, where we’re trying to set ourselves up to get to a clinical trial. We’re just waiting for that drug target hit, and if we can come up with it, or even in possibly in gene therapy, which is very popular right now and the FDA is looking at certain different trials and other things, like in retinal blindness, and stem cells, and all these other—the technology is incredible. We’re hoping it doesn’t take 30 years to find a drug, because that’s the normal life expectancy of trying to find a drug is it takes 30 years. So, we’re trying to do it smart, we’re trying to strategize and get there as fast as we can but as smart as we can too.
Ashley: So, say somebody is watching this right now and they want to get in touch with you. What’s the best way for them to reach out?
Monica: The best way to reach out to us is you can go to our website at www.bridgesyngap.org, or you can email me at firstname.lastname@example.org.
Ashley: Thank you so much for joining me today, Monica. I really appreciate it. You’ve been wonderful, I hope that we can help you progress. This is Monica Weldon with Bridge the Gap – SYNGAP Education and Research Foundation. This is the HealthMakers Show and I’m Ashley Johnson.
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