OUr Mission
The mission of the BPES Foundation is to provide organized information, resources, and stories to provide support and awareness to people affected by BPES and medical professionals.
Contact Us
If you have questions, comments, additional information, or would like to share your story on the blog please contact us at [email protected].
contributors to the bpes foundation
Meet Anela. In 2014 when my daughter was born we were told that she was "just taking some time to open her eyes," but I knew something was different about her. I was lucky to be referred to a great Pediatric Ophthalmologist who gave her the diagnosis of BPES at 5 months. I was filled with questions and fear of what this meant for my daughter. After months of internet research, I finally found the BPES Facebook community and began to connect with people who had similar experiences. I began to learn about the various approaches people take with surgery (including no surgery!) and I also began to see images of adults with BPES who were thriving and the amazing things parents did for their children, like create "small eyed" dolls or make stories about "doctors painting on your face" before surgery. It took me a while (about a year) to understand the syndrome enough to have peace with it, and to grow an appreciation for how special it makes my daughter. One person I met on facebook was Sara who comforted me by sharing her experience and motivated me to begin to make this resource to help people and their families during times that BPES can be scary as well as times when it is celebrated. Thank you for visiting!
Meet Sara. Hi! My youngest daughter and husband both have BPES. My husband didn't actually know he had a diagnosed condition until our second daughter, Mackenzie, was born. My gut instinct told me something was wrong when she hadn't opened her eyes by the next day but the doctors tried to tell me it takes time for some newborns to open their eyes. When I told the pediatrician, who was giving her a final exam before releasing her from the hospital, that I was concerned that she wasn't opening her eyes, she replied, "Well, at least you know she has eyes.' And that was it! After a week of feeling uneasy we decided to take her to our pediatrician where he diagnosed her with congenital ptosis and referred us to a pediatric ophthalmologist. In the meantime, we received the medical records of my husband stating he had BPES (before then we only knew that as a very young child he had surgery for droopy eyes). We were bombarded by a whirlwind of emotions. Then we were referred to an oculoplastic surgeon for her first sling procedure at 6 months because her case was so severe. The slings fell 2 weeks later and the surgery was repeated. I researched everything I could but was unable to find very much information on the syndrome. However, I did find Facebook groups where I could talk and ask questions with other people and parents who shared our circumstances. On one group I found a different surgeon for my daughter who uses a different technique. She had the slings taken out and then had the Levator Resection surgery (muscles shortened). She also had Epicanthoplasty (the inner corners cut) and will probably need 2 more surgeries as her face matures. I tell her she has designer eyes!!!
Meet Cindy. My name is Cindy and I have twin sister Wendy and we were both born with BPES back in the late 60's. Our eyes were extremely small and wouldn't open. Back then no one knew what we had or what to do until our parents found an incredible doctor who took our case on. Our parents were told that we were the first documented case of twins being born with all four eyes having this condition in the world. At 13 months we had our first operation done in an gallery operating room with about a hundred doctors there from all over the world. Our case is documented in the medical world journal of medicine.
We had all of the surgeries done for BPES that there are and spent many summers having operations during our school years growing up. Yes, we went through everything! The bullying, the emotional issues, the looks, being rejected because we were different... It wasn't easy by no means but we had each other and it built our character to what it is today. We didn't let it be a disability in any way.
We were both born with BPES1 so we both went through early menopause, neither of us could have children and we already have osteoporosis so we are dealing with those issues. For all these years we could not figure out why we were baron until I came across the BPES Facebook page and started doing research about a month ago. Finally...answers! And to find that we are not alone was an amazing find and very exciting! We feel very connected now and have a whole new family; people who really understand what we have gone through!
Both my sister and I have overcome a lot in life and both went on to have very successful careers and now are semi retired. We both have been blessed with wonderful spouses and great support systems. We have a lot to offer and would love to share our experiences and help others with BPES.
We had all of the surgeries done for BPES that there are and spent many summers having operations during our school years growing up. Yes, we went through everything! The bullying, the emotional issues, the looks, being rejected because we were different... It wasn't easy by no means but we had each other and it built our character to what it is today. We didn't let it be a disability in any way.
We were both born with BPES1 so we both went through early menopause, neither of us could have children and we already have osteoporosis so we are dealing with those issues. For all these years we could not figure out why we were baron until I came across the BPES Facebook page and started doing research about a month ago. Finally...answers! And to find that we are not alone was an amazing find and very exciting! We feel very connected now and have a whole new family; people who really understand what we have gone through!
Both my sister and I have overcome a lot in life and both went on to have very successful careers and now are semi retired. We both have been blessed with wonderful spouses and great support systems. We have a lot to offer and would love to share our experiences and help others with BPES.
Meet Jessica. I am a board certified genetic counselor and although I have a background in genetics, when it comes to BPES I am first a mother. When my son was diagnosed with BPES at four months of age, I went through all of the steps any new parent faces when they learn something unexpected about their child’s health-denial, anger, grief, guilt, fear, and finally acceptance. It was obvious to me from the day he was born that something was different, but he and his twin sister were born early and his doctors kept reassuring me that preemies were sensitive to light and that he was just sleepy. With time, my son has shown me that there is absolutely nothing that will hold him back and he faces each new situation that he encounters with enthusiasm, bravery, and a huge dimply grin. I am passionate about providing information, resources and support to families adapting to and living with a genetic condition. Even though I had the background to understand his diagnosis and navigate through the medical steps to manage the BPES, what I needed most was the support of other families who had been there before, to tell me what I now know and want to share with others—that everything will be more than okay.
Meet Stephanie. When my son was born in 2018, one of the nurses said that he had small eyes. When we asked her what that meant she said she didn't know, but that it "may be some kind of syndrome." The days that followed were filled with some of the greatest joy, biggest fears, and most intense research I had ever experienced. I was told that my son may be blind, I found a host of possible diagnoses online, and my mind and emotions ran wild. We were lucky to have an incredible care team who got us to the right doctors and at only five days old my son was diagnosed with BPES. In all our research and conversations with doctors, we never came across BPES during those first five days. But since learning about my son's diagnosis I do as much research as possible and we have visited numerous doctors to find the right fit for us. But what has helped me the most is the online community I have found that is full of information and support. It is the stories from people living with BPES and parents in similar situations to me that have helped me navigate this new adventure with my son. I am thrilled to be able to share my experience with others and hopefully help someone who may be facing those same struggles I did.
Meet Gabe. Bio coming soon!
Other contributers
Rick Kuwahara of 31 Digital, Online Support
Maile McCarthy, Illustration
Samantha Stone, Amber Hunt, Cyndy Somerset, Caroline Davey, Grant Muller, Elaine Unger, Dale Dorrell, Claire Franke, photo contributions
Tara Wenger MD, PhD, consultation
Maile McCarthy, Illustration
Samantha Stone, Amber Hunt, Cyndy Somerset, Caroline Davey, Grant Muller, Elaine Unger, Dale Dorrell, Claire Franke, photo contributions
Tara Wenger MD, PhD, consultation