How many, their stories, how you can help
Patients with BOS
Number of Patients with BOS
We often get asked "what is the approximate number of patients with BOS?". According to our MAB, a non-scientific guess would be 150-200 cases worldwide. A parent suggested a form that was public for everyone to keep track. We have listened and created the form below.
This public form was created to track the approximate number of patients with Bohring-Opitz Syndrome. Information provided on this form is shared to a public spreadsheet and on the BOS Foundation website for the sole purpose of tracking the approximate number of patients with BOS. Completion of this form/questions on the form is voluntary. The BOS Foundation is not responsible for information shared on the form.
If you are a parent/caregiver and would like to be added to the form, please email taylor@bos-foundation.org.
Responses can be found here.
Stories to Share
Below are some stories from BOS families. Sharing stories really help the BOS community raise awareness. Would you like your child's story to be heard?
If so, please email taylor@bos-foundation.org for more information.
My biggest advice to families going through this, whether you have been living it or are just beginning this journey, is to never loose hope. Grieving a living child is real and raw. It’s frustrating. It’s shattering, at times it feels unbearable. But never loose hope. Take it day by day, minute by minute and sometimes second by second. I often tell others that Grayson made me more human and alive than I could have ever dreamt of. I think I needed him more than he will ever need me.
Share your story by emailing taylor@bos-foundation.org
“Since we have known what syndrome our little angel was affected with, we have been even more admirative and proud of Eva, and of her fight. But we do not understand why our children must experience this. We are sure of one thing : Eva has transformed us forever and has filled us with love, not only us the parents, but also all those around her. She positively changed our vision of life and of the afterlife, forever. “
Despite the many medical challenges that Theo has faced, he continues to be a happy child. He has a very sweet and energetic personality. He loves anything with lights and music and is always smiling and laughing during his periods of health. Theo is overcoming his vision and hearing loss by working hard through his many therapies.
The doctor indicated that Daniel’s presentation fit mitochondrial disease and dismissed his dysmorphic features as nonspecific. We had our answer . . . or so we thought. At age 18, the testing came back, we finally had an accurate answer as to Daniel’s genetic status. He had Bohring-Opitz Syndrome.
The area she struggles with most is seizures. In 2012, Campbell had a prolonged seizure (status epilepticus) where she suffered hypoxic brain damage after undergoing CPR for 20 minutes. Some of her current symptoms and level of function are a result of the hypoxia versus BOS. For example, she was hypotonic (low muscle tone) prior to the seizure and now is hypertonic (high muscle tone). She also received a tracheostomy due to her airway collapsing when they attempted to wean her off the ventilator.
#StorySunday #BOSFoundation #BOSaware
Meeting my baby for the first time wasn’t at all what I was expecting; his eyes were bulging his head was a funny shape and nearly twice the length it should have been… I was in shock… Where was my perfect new-born baby? I was assured by the nurses that everything was ok, he was just born quickly and that it would all go down. Once my family had gone to give me some rest I was left to hold my baby wondering what had happened, what had gone wrong and how long it would take for him to look normal??
#StorySunday #BOSFoundation #BOSaware
Rosemary is now 27 years old! She is a very social and happy girl! She is non-verbal, but can make some of her needs known to us through gestures and vocalizations. She is able to eat and finger feed herself most foods. She can make choices when given the opportunity to do so. She sits up on her own and crawls on her own!
#StorySunday #BOSFoundation #BOSaware
BOS Patient Registry
We really encourage families to participate in the ASXL Patient Registry. Patients and families (including angels) with BOS or mutations in ASXL genes are enrolled in our study which is approved by the hospital ethics committees. Parents complete simple questionnaires online about their child’s medical history and may submit photographs as well as test results and notes from their physicians. The information is kept on a secure server. Identified information can only be accessed by the researchers in charge of the study. Deidentified content may be available to other researchers, members of the registry advisory board, and the study participants.