The Clatterbuck family approached Marietta Community Foundation when they needed help to attend a medical/rare disease conference, STXBP1 Summit+. By partnering with the Washington County Board of Developmental Disabilities, the Jim Christy Fund for Kids at Marietta Community Foundation made this opportunity a reality.
Following the conference, Jennifer sent this update reporting on their experience:
"At the most basic level, this trip to attend the conference in Philadelphia was what we needed on an emotional level. Emma has some very complex medical needs and there are few places we can go locally without being stared at and made to feel uncomfortable and even at times, unwelcome. Spending an entire weekend with 100 families who live the same day to day challenges, 80 researchers from all over who have dedicated their time to helping my daughter and others like her, and Neurologists who want to be the best for their STXBP1 patients, was as close to magic as you can get nowadays. It was informative, inspirational, and so hopeful. I haven't heard my daughter squeal that much with happiness in a long time. But Friday night during the family and researcher dinner and dance party, she couldn't stop. We left knowing that we are important, we are worth someone else's time and energy, and that many people see her as special, not different.
The hotel treated us like royalty and even rolled out a red carpet in front of their elevator. They didn't seem the least bit perturbed by the happy screeches, outstretched hands, random hugs, constant rocking, and crazy requests.
During the research talks, I learned that:
STXBP1 has been cured in mice and they have already looked at how that could be translated to humans. Next step: natural history study, which they have begun enrollment for, and then human trials.
They are beginning to work on building iPSC lines for my daughter's specific variant, which is very exciting because she is the only one known to have this variant. The iPSC lines will allow for personalized research, giving them the clinical picture involved with her variant (which will be helpful since we have suspected she may have another diagnosis, but STXBP1 is always blamed for everything) as well as providing a way to test drug toxicity and effectiveness without putting her or her health at risk.
The first human drug trial with an already FDA-approved drug called 4-Phenylbuterate has been largely successful in treating seizures. Currently my daughter suffers from daily seizures. I had the opportunity to speak with the researcher running this trial and he is hopeful he could get the drug approved for her through insurance. We are planning to schedule an appointment with him to follow up on this and get the process started.
There is a newer drug that could be an option to treat Emma's seizures.
I am also on the board of the STXBP1 Foundation and am one of six parents who started it. So along with receiving support from the community, I was able to help plan activities for the families to socialize, get some families acclimated to eye gaze communication (my daughter has done very well with it and there is little support for our families to get their children started with it), and offer support and encouragement to families with babies newly diagnosed with this serious, scary rare disease. I was able to share the load with the fellow board members, who are also parents and volunteer their time to make STXBP1 family's lives easier and to push research forward.
Emma also had a follow up appointment with her mitochondrial specialist while we were there, who was able to write a letter, giving her local doctors guidance on handling illnesses and surgeries with her. Coming out of a serious hospitalization, this visit was very important to Emma's care going forward. This doctor is also going to facilitate running Emma's whole exome again, for free, to see if we can figure out what her secondary diagnosis may be.
I know this is lengthy, but honestly, there isn't much your gift of paying for our hotel didn't give us. Being able to attend this conference and make it to Philadelphia was everything.
I am so grateful to you,
Jennifer Clatterbuck"