Research: The key to action
Research begins with observation and, inevitably, one noise and a statement: Huh, that's curious. Which then leads to action.
Usually, the first action is to identify similar traits or symptoms between patients. With KBG Syndrome those first traits were defined and labelled and entered into a database at the National Institute of Health for other researchers to find and build their own case studies based on their patient observation.
When you have only one patient with a unique set of traits, it could be a single mutation or multiple mutations but it is still only ONE set. And ONE does not a priority make. That is not to say that an individual will not get proper and timely care, it simply means that there are less resources assigned to finding out what to do about the unique features and maybe, if there is no beneficial outcome for a group of individuals, then treating the symptoms becomes the best option.
Community: Enlarging the pool
The next step for KBG Syndrome was to find out if these unique traits had something more under the hood. Was there a genetic component?
Researchers believed that KBG was autosomal dominant, meaning a 50/50 chance of the child of someone with the mutated gene would inherit the condition. More case studies, additional research on traits were performed and, in 2011, that gene was identified.
But it didn't stop there! Why would it? Researchers were on a roll!
More patients were identified using the new gene marker, and the pool for resources grew. We no longer were looking at a few people that would be affected but now dozens, and maybe hundreds, if we can find them. With that gene identification, came a new question: What does THAT mean?
Additional research concluded that C-terminus has an impact on protein regulation leading to the mutation. Why is that important? If you block C-terminus can you override the mutation? More research is needed. More unique people need to be found to help answer some of theses questions and expand the resource pool to create more action in potentially curing KBG Syndrome. We need to find all the KBG family and help find out even more about the syndrome and how best to treat it.
Now, imagine if those researchers did not say: Huh, that's curious?
The future of KBG
With more patients for researchers to learn from, and with gene editing in its infancy, the cure for KBG is no longer a dream but a very real, and tangible possibility. The KBG Foundation is working toward that goal. We are sharing our stories to raise awareness and encourage testing, we are providing support and advocacy for not just KBG but other rare conditions as well and we are building relationships to help our KBG family.
Please help us find all of our family members, if you suspect you or a loved one may have KBG, ask your Doctor about testing. Find out and let us know so we can help! The more we know the more likely a cure can be found.