The first organization that we would like to raise awareness about is the Bohring-Opitz Syndrome. A percentage of ALL proceeds from the month of April will go directly to the Bohring-Opitz Syndrome Foundation.
The Bohring-Opitz Syndrome Foundation, Inc.- a 501c3 non-profit organization- is dedicated to improving the lives of people affected by BOS through the establishment of a medical advisory board, awareness initiatives, and parent/patient advocacy.
What is BOS?
Bohring-Opitz Syndrome is an extremely rare genetic syndrome. There are fewer than 80 cases in the world. This syndrome is diagnosed by genetic testing and is a mutation in the ASXL1 gene. The leading cause of death is respiratory infections. Children with BOS can have feeding difficulties, recurring respiratory infections, sleep apnea, developmental delay, failure to thrive, abnormal hair density and length, Wilm’s Tumors, brain abnormalities, silent aspiration, and the list goes on.
One precious angel's story with BOS:
We were thrilled to find out I was pregnant with a baby girl! During my first trimester, our beautiful baby made me so sick I could barely get out of bed and I was hospitalized twice for acute dehydration. During this time, we found out I had a single umbilical artery (SUA)- This condition only impacts 1% of single pregnancies and our doctors could not explain the cause. We were relieved by the odds that 75% of babies born with SUA are healthy. Of the remaining babies, some studies suggest that about 25% have birth defects, including chromosomal and/or other abnormalities and difficulty growing. Because she wasn’t showing growth during my weekly checkups, I was labeled a “high risk pregnancy” and assigned bed rest. To put our minds at ease, we were offered the MaterniT21, a blood test for the most common chromosome disorders including Down syndrome. Again, we were relieved to find out the results were negative. Our doctors weren’t concerned and we were told Mia was going to be a smaller baby and should catch up by her third trimester. To monitor her development, we had 100 level two ultrasounds through the duration of my pregnancy-all reinforcing positive results for a healthy baby.
I was feeling much better during my second trimester and into my third and we made it to our scheduled C Section at 37 weeks. Our precious Mia was born and everything was perfect. Mia came out screaming with a head and body full of hair, big blue eyes, and ten fingers and toes. She passed all of her newborn screening tests and we were thrilled she weighed 4lbs and 14oz at 17 inches in length. We were even allowed to take Mia home a day early because we both felt great and she was symptom free.
MIA is HOME!:) A couple days after arriving home, we started to notice Mia having difficulties eating. She wouldn't latch to the bottle and it would take us two hours to feed her 3oz. We tried everything; adding cereal, made the hole bigger, using an eye dropper, etc. but she wasn't sucking and it became clear she could not swallow. We took her to several specialty doctors and were dismissed- “A lot of babies have difficulty eating, nothing to be too concerned over,” is the feedback we received. We were prescribed acid reflux medicine from the GI doctor and told to check back in.
Four months later, Mia has gained NO weight from our initial follow up visits with GI and her Pediatrician. To put it into perspective, she is 4 months old weighing 7lbs and severely delayed. She cannot roll over, sit up, hold her head, or achieve any developmental milestones. One night she started throwing up so we took her to the ER. Again, we were told nothing was “wrong” but as her parents we knew something was wrong. Three ER visits in three weeks and we still had No answers. We were frustrated and scared and Mia was still struggling to gain weight. We were told by a friend to demand a swallow study test. The test showed her aspirating everything she was eating and was immediately checked into Joe Dimaggio Children's Hospital for a Fundoplication and G tube surgery. We finally had some answers.
We spent a full month in the hospital in hope that Mia would start to thrive with her new feeding tube. During our time in the hospital, we met with many specialty doctors including a geneticist who ordered a Microarray test (chromosome test) and we were happy to learn the test was negative, but I couldn’t shake the feeling that something was still wrong. We were discharged from the hospital and sent home. Mia slowly started to gain weight, but fell further behind in her milestones. I was referred to a Facebook group for families with children who have eating difficulties, syndromes and other special needs from all over the world with over 13,000 members. One night I decided to post Mia's pictures on Facebook along with her symptoms and received a message within 10 minutes from another mom. I will never forget this message or this mom- She confirmed my instincts and I learned for the first time about Bohring Opitz Syndrome (BOS). From that point on, I knew Mia had BOS, I could tell by photos, symptoms, and my gut told me. I immediately brought this up with my doctors and they suggested one last test to confirm. The test needed was Whole Exome Sequencing. WES testing is a very expensive genetics test and you need multiple doctors to submit your child's symptoms before getting approved. We were finally approved in December 2016 and had our results in early March 2017 confirming that Mia did have Bohring Opitz Syndrome. BOS is a caused by a mutation in the ASXL1 gene and 1 in 94 million children are impacted in the world. The leading cause of death is respiratory infections. Children with BOS can have feeding and severe learning difficulties, sleep apnea, developmental delays, failure to thrive, low muscle tone, excessive hair growth, difficulties seeing, silent aspiration, Wilm’s Tumors, birth defects, cleft lips, and the list goes on and on. There are less than 85 documented children in the world with BOS. Please share Mia's story to help bring awareness to this syndrome and hopefully we can help another family who might have unanswered questions. Follow Mia on Facebook
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