How your Child’s Medical History is a Tool Towards a Cure
To My STXBP1 Family:
Mom Lila Grieb and son Rowan
Being a part of this ‘genetic’ family for the last 2+ years has been a dream come true. I searched for 12.5yrs for the cause of all Rowan’s problems...to give his cluster of diagnosis’ an overall name...to give us this community where our daily struggles made sense to other families. On the day I received the genetic report I found the community online...the Foundation website, the Facebook groups, and most of all other people I could pick up the phone and speak to right away, and I did.
Inside of two months, I was fortunate enough to attend the first ever STXBP1 Investigators & Family Meeting at CHOP in June 2019. The seminar was full of information and time with other parents and research scientists all wanting answers to the big question...How can my child be treated/cured? I am myself a retired research scientist, so from day 1 I understood that what we all needed to answer that question was data....data about what each person with this genetic mutation goes through, compiled in an organized manner, so that the doctors and scientists treating and researching our children could access it easily.
This culmination of data is called a Natural History Study. Simply put it is the medical history of our children compiled and organized electronically in a format that is accessible for researchers and medical doctors alike.
Our Foundation has chosen to work with Ciitizen, a company that can take basic information from us as parents, and then THEY seek out all those dusty records from all the doctors your child has seen over the years. No more hunting for that 10yr old report of a visit to a long ago neurologist, or any other medical professional our children spend so much time visiting.
Once they get all the records, they will organize it in a manner usable for researchers, doctors, and families alike. And we have access as parents as well! An electronic record of every document so we can copy and present when required. With this data readily available, researchers can find answers to some of our biggest questions, not the least of which is this: What commonalities exist between our children that are specifically caused by the STXBP1 mutation and what others are just comorbidities? What are the hallmark symptoms of people with this rare genetic disorder STXBP1 Encephalopathy?
This is a necessity for any disease in the infancy of research for a treatment/cure. I call it the background information, a great springboard to other studies and clinical trials down the line. It is so easy to participate as parents! To actually aid in the research of our children is what we all want, to say we were able to do something in the fight for a cure. The Foundation has all the resources needed to help families participate, a webinar, a Q&A Facebook page, and people to help you at every step. Please continue the fight by participating in this natural history study and become part of the Race for a Cure!
~Lila Grieb