Bohring-Opitz Syndrome Foundation, Inc.
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BOS Patient Stories

Bohring-Opitz Syndrome Patient Stories


Hi! The Galloway family wanted to share Lennon’s struggles for the first year of her life before receiving her diagnosis of Bohring-Opitz Syndrome at the age of one.  Our daughter, Lennon, was born premature at 34 weeks on August 23, 2014 at Holy Redeemer Hospital.  She was delivered early due to poor fetal growth in the womb and was diagnosed with IUGR (Intrauterine Growth Restriction).  Lennon was 3lbs 4 ounces at birth.  Within the first few hours, Lennon needed a (1/3) blood transfusion due to red blood cell concentration.  Lennon displayed respiratory distress and failed to thrive during her stay in the NICU at Holy Redeemer Hospital.  

Lennon was transferred to St. Christopher’s Hospital on October 20, 2014 with the following diagnoses: Respiratory Distress, Polycythemia, Hyperbilirubinemia, Growth Failure, Choanal Atresia and Laryngomalacia.  She was transferred for the purpose of awaiting surgery to correct her Choanal Atresia and Laryngomalacia.  On October 24, 2014, Lennon had her first surgery for a repair of choanal atresia (closed left nasal canal).  This procedure was repeated on October 31, 2014.  These procedures did improve her respiratory distress: however, the repair of her laryngomalacia (floppy airway) was unable to be performed because of Lennon's small size.  So, Lennon’s three main issues continued despite these surgeries:  her inability to feed, respiratory distress, and failure to thrive.  Meanwhile, the feeding therapists at St. Christopher's Hospital were also unable to advance Lennon's ability to feed due to her uncontrollable reflux.  From birth, Lennon had been eating through a feeding tube inserted directly into her intestines due to her feeding intolerance. She refused to keep the tube in and was always pulling it out even though there "was no way she would get it out".  Due to these continued issues, Lennon had another surgery for a G-tube placement and a Nissen procedure on December 10, 2014.  The Nissen helped Lennon with her severe reflux.  Shortly after these procedures, Lennon was discharged from St. Christopher's on December 20, 2014 after being in hospitals for the first four months of her life.  

Four days later on December 24, 2014, Lennon was readmitted to St. Christopher's Hospital due to emergency respiratory distress.  Lennon contracted the Rhinovirus, which caused an extensive amount of damage to her airway and lungs.  Over the course of the next few months at St. Christopher's, Lennon battled a series of illnesses that were classified as "from an unknown origin".  These illnesses caused consistent high fevers and a further compromised respiratory system.  Several more attempts were made to repair her Laryngomalacia, but were unsuccessful.  On March 13, 2015, Lennon had a fourth surgery for the placement of Tracheotomy tube due to her ongoing respiratory distress and chronic lung disease.  Lennon now had the assistance of a ventilator to apply air pressure, aiding with the expansion of her lungs to help her breath at a normal rate. Lennon was then discharged from St. Christopher's Hospital on April 3, 2015 after another 3 1/2 month stay.  From April until August 2015, Lennon made small improvements and began to gain weight.  Finally, there was a sense of ease and relief for Lennon.  

On August 22, 2015, we had Lennon’s first birthday party.  She was so happy that day.  We will never forget her face when she looked at all of her cousins singing happy birthday to her. Before she went to bed, my husband and I told her that we would set our alarms for 2:14 a.m. so we could wake up and sing happy birthday to her.  That night, at 2:10 a.m., within minutes of the time of her first birthday, Lennon had two unexpected prolonged seizures.  The seizures were caused by a quick spike in temperature from 98.6 to 104.7 with no warning signs or symptoms.  The first seizure lasted for 25 minutes until Lennon was finally stabilized at Aria Hospital.  Almost immediately following the first, Lennon had another seizure  that lasted for another 15 minutes.  Lennon was then transferred to St. Christopher’s Hospital shortly after these events.  Lennon’s body went into septic shock and her liver began to fail.  Over the next few days, she was placed on sedation and paralytic medications to keep her comfortable. Lennon had an MRI done  that revealed profound brain damage, as a result of Hypoxic Anoxic Brain Injury.   Due to Lennon’s respiratory issues, her brain was unable to receive the proper amount of oxygen and blood flow during her seizure events.

Lennon was then transferred to Children’s Hospital of Philadelphia on August 26, 2015.  The Neurologists at CHOP confirmed the MRI findings and told us that Lennon's damage was so profound that they did not believe that Lennon would ever be able to function independently and would live life in a vegetative state.  They did not believe Lennon would be able to see, hear, interact, move, etc.  Lennon's team of doctors stated that they needed to wait one week from the brain injury event, when Lennon’s brain swelling would go down, to begin to determine what type of person Lennon had become and what abilities (if any) she would have left.  Over the course of the next week, my husband and I met with numerous groups of doctors and specialists and discussed the possibility of letting Lennon go.   We did not want our little girl to have a life where she was trapped inside her own body unable to communicate with us. We wanted Lennon to have a lasting impact on this world, like she had done for us and our family, so we decided to have her organs donated.  We were ready to let Lennon go and we wanted to help another family, so they did not have to go through what we were going through during Lennon's one-year battle of mostly "unknowns."  

In the meantime; however, Lennon did what she always did, she refused to give up and stop fighting.  On that Saturday, August 29th, she opened her eyes and began responding to our voices, as well as slightly moving her limbs.  The doctors believed all of these movements to be involuntary.  Each day; however, Lennon got a little better and stronger.  On Tuesday, September 1st, the Neurologists at CHOP confirmed the suspected profound brain damage with a repeat MRI; however, certain parts of Lennon's brain were less damaged than anticipated.  Lennon's doctors still believed that Lennon will be blind and unable to walk, but they were unable to predict what exactly her limitations will be at that point.  Lennon's progress (or lack thereof) will occur over the next few months or years.  We were told that Lennon will continue to progress daily more and more until she reaches her limit and all improvements would eventually cease.     

The CHOP infectious disease doctors were unable to determine what caused Lennon’s initial fever spike which caused Lennon's seizures on her birthday.  After the last test results came back negative, they told us that Lennon could go home.  Lennon was discharged from CHOP on September 4, 2015 after returning to her baseline ventilator settings, feeding regime, and medication regime with only two added medications for seizures and muscle spasms.   

Early on during Lennon's time at St. Christopher’s Hospital, geneticists tested Lennon for various syndromes, but were unable to identify a particular gene that was affected.  They always believed that her issues and defects could be explained by a genetic abnormality, but tests results continued to come back negative.  After accepting the fact that Lennon may pass away, my husband and I requested a full genome sequencing panel study with the possibility of receiving an answer as to why all of this has happened to Lennon, which would hopefully help us deal with the loss of our daughter.   The normal eight-month study was expedited for us and we were told it would be completed in two weeks.  

On September 14, 2015 the results of Lennon's genome panel came back.  Lennon was diagnosed with Bohring–Opitz Syndrome (BOS).  They were able to see the mutation in the ASXL1  gene that causes the syndrome.  This is a syndrome characterized by a specific craniofacial appearance, fixed contractures of the upper limbs and abnormal posture, feeding difficulties, intellectual disability, small size at birth and failure to thrive.  Lennon does not have all of the symptoms or characteristics of this syndrome, but every one of her defects is classified under this syndrome.  The gene that identifies BOS was only discovered in 2011.  The syndrome is so rare that there are only about 60 known cases in the world.  Lennon is one the youngest known cases.  Life expectancy is unknown.  Most BOS children are unable to ever fully develop and live normal lives, whatever normal means.     

Now that we know what caused Lennon’s defects and medical struggles, we now know how difficult the road ahead will be for Lennon.    In addition to her BOS diagnosis, Lennon gained another strike against her when she suffered her Hypoxic Anoxic Brain Injury.  Lennon is not the same type of baby she once was the first year of her life.  She is unable to do the then-limited things that she was doing before her brain injury.  All of this is meaningless to us and our other children.   Our baby girl is alive and fighting and we want to do everything we can to give her the best chance at success and a full-life experience. We will never let a label of BOS define who Lennon is.  She has proven doctors wrong from day one and we expect this to continue.  

Lennon currently receives physical, speech,  occupational, vision, and hearing  therapies weekly at home through Early Intervention.    In addition, Lennon is being followed by many specialists including Pulmonology, Neurology, Ear Nose and Throat, Nephrology, Endocrinology, Cardiology, Orthopedics, Gastroenterology, Ophthalmology, Audiology, and Rehabilitation Services.We also anticipate future travel to specialists of BOS across the United States.

It is difficult for us to put into words the severity of Lennon’s medical needs and emergent care.  We do not know how long she is going to be with us.  We  do not know how long we are going to be able to help her fight through life and develop into whatever beautiful little girl she becomes.  We just know that we will not stop helping her and we will never give up on her.  We want her to know how much we love her and how proud we are of her for her constant fighting spirit.  We do not know how long Lennon will be with us but we do know that we are going to give her the greatest life we possibly can, even if it is just for a little while.  Thank you for reading her story.  


The Galloway Family

Jesa Galloway

Patient Support Chair

BOS Foundation, Inc.

Taylor Gurganus1 Comment