Making connections

I’ve been in lots of groups for Moms of Special Needs Kids on Facebook and have followed the many rare disease mom hashtags on instagram, sometimes exchanging messages or meeting for coffee. Being a rare disease parent can be isolating, but it really helps to connect with other parents who get it. Moms who are used to the wild range of emotions: sadness, acceptance, anger, exhaustion, and joy that repeat in random order and can change at any second.

Last week I came across a rare disease mom named Amber Freed, who started a foundation to seek gene therapy for her son. After reading her story and watching her video, I was brought to tears. She was doing exactly what I wanted to do, so I reached out to her on LinkedIn and email. She graciously agreed to talk to me and we spent an hour on the phone last week about what I’d need to research in order to see what materials we have to push forward basic science in understanding, and potentially treating, Olive’s condition. I learned about the need to find mouse models for Olive’s gene + phenotype, natural history studies, a bit of 101 on gene therapy, and was encouraged to do what Amber did: email every researcher who wrote a paper about Olive’s gene and ask for a meeting. So that’s what I’m doing!

Amber also introduced me to Terry Parovolakis, and I had listened to his incredible story on the Once Upon a Gene podcast earlier that day. It was either a crazy bout of serendipity or I had really started to find my people. I guess it was both!

At the same time, I connected with another rare disease parent and long-time advocate Sharon King, who founded Taylor’s Tale and has since been involved in advocacy efforts to push forward research and gene therapy treatment. I reached out to her and learned she would be in DC in a few days for the NORD (National Organization for Rare Diseases) Summit, so I signed up for it. My boss was gracious and encouraging, and I spent the last two days listening to talks about rare disease, treatment options, how to work with the FDA, and learning about the work of patient advocacy organizations and biotechs. I met many moms like me who had started foundations and were actively pursuing the creation of treatments for their children where there were none.

Today I also met with Dr. Joseph Gleeson of UCSW, who published the original (1 of 3) study on Olive’s gene and an associated phenotype (aka symptoms) after finding two families in the middle east. He answered my many questions about Olive’s gene, and confirmed gene replacement therapy is really the only option for her. Dr. Gleeson also happens to be the Chief Medical Officer of the n-Lorem foundation, a non-profit that offers free ASO therapy for nano-rare diseases, meaning those impacting less than 30 people in the world. We’re not certain that ASO therapy will work for her condition (it involves injecting mRNA to produce proteins in the body, and although it has shown amazing impact for children with Angelman syndrome, Dr. Gleeson wasn’t convinced it showed promise for treating cases where the gene is not functional at all — but we actually don’t know if Olive’s gene is partially functioning).

I’ve learned quickly to question everything and take nothing as a fact, and this work is actually quite similar to my job — taking in a mix of data, opinions and using my gut to solve a set of problems that have no perfect solution.

Tomorrow, Andy and I are meeting with another scientist who studied Lunapark, and I’m excited because he mentioned that there were things he’d like to share with me that weren’t in the original paper. But I’m cautiously optimistic, because I know I’ll probably talk to more folks like this before I can find the one who might be the right one to partner with us.

I’ve also got Dr. Chen at UTSW (a leading gene therapy expert and led the lab responsible for Terry’s treatment) reviewing Olive’s case, to see if he believes gene therapy is worth pursuing.

So I’m basically at the cap-gun release at the beginning of a marathon, at the base of Mt Everest, or am walking through the jungle … or some mixture of all three. But I’m energized by what I’m learning and there is no greater cause than our sweet Olive. So we’ll see where this takes us.

More to come…