Meet the Board Monday Questions

Name:Annette Maughan
Hometown: Ogden, Utah
Title: CEO

1. When you joined the Board, how did you see yourself contributing? Has that changed over time?

Before I joined the Board of Directors for the KBG Foundation I was told by a rare friend and leader:

‘You need to put your message out there, you need to find others and learn more about KBG Syndrome. Yours is ONE experience, what are others experiencing that could potentially help you all?  You will be stunned by the response.’

My mission was/is to get our story out, to find more people, and build a Board of Directors and Scientific Advisory Board. I envisioned this to be my sole purpose for many years. My contribution would be to build the Foundation.

It hasn’t changed much. I still eat, breath and sleep, KBG Syndrome and I am nearly wholly consumed with a singular focus: Get our families help! Including our son.

But, I am no longer a simple storyteller, I am (surprisingly) a published researcher and Mom/Grandma (not surprisingly) to all my KBG Family and as such, I am more emotionally invested and logically bound to these wonderful people.

2. How does KBG Syndrome affect you personally?

Aside from our son being diagnosed with KBG Syndrome, the effects of his diagnosis are profound on our family and many others. We alter our daily activities to accommodate his needs while still trying to be as typical as possible for our other children. Our son’s diagnosis has led to help for hundreds, if not thousands of others.

3. What would you say to a family dealing with their new diagnosis? What advice would you give?

Give yourself time to adjust; it’s a shock to have a diagnosis. Even after years of looking, actually finding something like KBG can be a kick to the gut. Give yourself time to learn about KBG and also to grieve and then realize: not much has actually changed except you now have a proper name to curse at. Nothing about you or your child is fundamentally different except you can say: KBG Syndrome.

While we work on finding better treatments, we need to remember that we are pioneers. No one has done this before, and we must allow ourselves to be successful and accept that we may also make mistakes. But we need to stay the course and not be afraid to share our stories about living with this syndrome. The more we raise awareness, the more help we can provide for others and ourselves.

4. What do you feel is the most important result of raising awareness about KBG Syndrome?

Support for other families with this diagnosis. It can be so isolating hearing that you have an ultra-rare syndrome, some of that is self-imposed because you suddenly feel very different, you feel outside of the world and alone. Being pointed toward the Foundation when you receive your diagnosis removes that isolation. Emotional support can mean the difference between moving forward and accepting the diagnosis and languishing in the unknown; doing nothing.

Having that tight family group also means research possibilities intensify. The Families are engaged, pro-active, sharing research and helping each other. When researchers and Doctors ask me what I know about KBG I can honestly tell them: more than you thanks to these families and then we learn together.

5. Where do you see KBG Syndrome in 5 years? In 10 years?

I see a supportive, caring family of people who happen to share a similar genetic mutation. The Foundation isn’t just a company, it’s a home. I envision this home filled with laughter and love, overflowing with emotional support. I know the Foundation will lead the research into KBG, I know the Board will ensure that more is understood about KBG and its place in the world than history has told us. We will continue to grow and we will continue to lead and we will do it with our KBG Family Pioneers.