Vaughan

Vaughan

I wanted a baby. I wanted a baby so much I cried, I cursed, and I prayed. After 9 months of trying to conceive my prayers were answered. I was pregnant! According to all my doctors (I was considered high risk because I have a sibling with a congenital heart defect) my pregnancy was “perfect.” Looking back, the only “red flags” were that my little baby kept his thumbs clenched on every ultrasound and that he had over an inch and a half of hair! The doctors and ultrasound technician couldn’t believe it!  I went into labor at 39 weeks and had a NICU team standing by since meconium aspiration was suspected when the nurse broke my water.  After 15 hours of labor, my baby boy came into this world and was finally in my arms.  We instantly named him Vaughan because of the bright red birthmark on his forehead in the shape of the letter “V.”  It was meant to be! He was whisked away to the nursery to get checked out by the NICU staff and to get checked over while I settled into my recovery room.  After about 2 hours, I wanted to see my baby and to hold him again. I called the nursery and the nurse told me they would bring him to me soon. After about forty-five minutes, I called again. This time he was having a hard time passing his hearing screening. Another hour passed. I called again. The nurses were bringing him soon. After about another thirty minutes, a NICU doctor came to my room.  The doctor looked solemn and began to tell me my sweet baby boy did have meconium aspiration and that he was very sick. He was having a difficult time regulating his temperature. They had placed him in the NICU and put him on a breathing machine to help him. But there was more . . .he didn’t pass his hearing screening, he was showing significant signs of severe reflux, he had a tongue and lip tie, and a high palate. He also looked different than other babies and the doctor suspected he had an underlying genetic disorder.  MY WORLD CAME TUMBLING DOWN.  Vaughan was very sick for almost 2 weeks in the NICU and continued to have severe reflux.  We were there by his little incubator every day.

When he was well enough to come home, we were thrilled. However, he continuously would spit up, sometimes whole bottles. It wasn’t normal. Four days later, we took him to the pediatrician. He wasn’t gaining weight. His pediatrician immediately had us admit him into Children’s National Medical Center in Washington, DC for further testing.  He was in the NICU for 3 days, while teams of doctors from GI, Neurology, Cardiology, Genetics and more ran an array of tests but they all came back normal. The only test that showed anything significant was his MRI showing he had complete agenesis of the corpus callosum. Doctors assured us that could mean he would be fine, or that he might have some learning difficulties.  Since Vaughan was doing better than a lot of other babies, they transferred us to a regular room where he would be monitored and more testing would continue. Everything came back normal. The geneticist assured me that before we left, we would have an answer. What was going on with our baby? To us, he was perfect! But why was he having so many issues?   

After a week at Children’s, they discharged Vaughan. No one had an answer about why our little guy was having so much trouble. If anything, we had more questions leaving than we did when we got there! So, we followed what the doctors told us to do. We added calories to his formula, at 4 months old we got him glasses, at 5 months old we enrolled him in early intervention and got him hearing aids, and we continued to do 3 loads of laundry every day because of his nonstop spitting up/vomiting.  At 6 months old we took him to a GI doctor for a follow-up. We pleaded for the doctor to help us with his reflux, but the doctor insisted that it “was normal baby reflux” and said there was nothing he would do until Vaughan was a year old.  Only after he turned one would the doctor consider doing a Nissen Fundoplication and inserting a G-tube.  In the meantime, Vaughan’s audiologist recommended we try ear tubes. At 9 months old, he got his first set and had a sedated ABR.  Not only did the results show that the tubes worked, but that Vaughan had completely normal hearing! My baby could hear my voice!

At 15 months, Vaughan had his Nissen Fundoplication and his G-tube placed. His recovery was one of the hardest things we had to go through, but after about 2 months, he was finally getting back to his sweet, happy, cuddly self. The gagging and retching subsided and he was finally putting on weight at a rate that made his doctors happy.

April of 2014, we finally got a diagnosis for our baby.  We had to jump through hoops to have the genetic testing completed, but it held the answer.  Vaughan had Bohring-Opitz Syndrome.  It was so rare that our geneticist had never even heard of it and gave us some literature on one of the only studies ever done on children who had it.

I immediately went home and found the Facebook Group for children with Bohring-Opitz Syndrome and requested to join. What a lifesaver! I wasn’t crazy! My baby was like the other children . . .and looked almost exactly like them too! There was Okke, Jackson, Eva, Jamie and so many more!

Today, Vaughan is four years old and goes to preschool where he gets physical therapy, speech therapy, vision therapy, and occupational therapy. He also spends time with his Mimi and Pop Pop and enjoys when his Nana and Papa can come visit. His favorite things are eating pureed foods by mouth, playing in the bathtub, looking at books, listening to music, swinging and being the light of our lives.  He does not walk or talk yet, but he definitely lets us know what he wants and needs! He is one of the sweetest, happiest, funniest, kindest, and just overall genuinely wonderful children I have ever known. It’s a constant battle advocating for him when so little is known about my little man and the other children who have this condition, but I wouldn’t have it any other way. He is the reason I get up in the morning. He is the reason I work as hard as I do. He is the reason I am the fierce mom that I am. He is so special to us as well as the other families and children with BOS. Please share our story and spread awareness about this syndrome so that other families may understand us and our children better!  

Bowie

BOWIE RIX

Bowie Rix was a full-term baby from a problem free pregnancy. He was delivered on 13th April 2012 by an elective c section. Other than a bout of jaundice at 3 days old Bowie was a well child.  When Bowie reached 6 months old we realised that his development was an issue. We were reassured it was just because he was a boy that he was a bit lazy, but after persistent concerns to his health visitor, Bowie finally got assessed and referred to the child development centre. Here he got assessed more thoroughly and was linked with physio, occupational therapy, a specialist health visitor, a paediatric consultant, speech therapy, an early years teacher, neurologist and geneticist.

We were told there was a chance he had cerebral palsy but that got denied later on. Bloods were taken and all investigative avenues followed. Results came back clear until an MRI test was completed when Bowie was 17 months that showed he had Periventricular Leukomalacia, scarring to the grey matter of the brain. This was an indicator to Bowies delay, however the neurologist didn’t think the delay was consistent to the brain damage.

During an appointment with the geneticist we mentioned he has a red mark that flares up on his forehead when upset or angry. The geneticist thought of Bohring Opitz at this time and suggested we test for that.  Bowie was confirmed to have Bohring Opitz in July 2015 when he was 3 years old.

Bowies Symptoms

• Severe Global Delay            

• Periventricular Leukomalacia (brain damage)

• Slow growth

• Flammeus nevus

• Droopy eyelids

• Low muscle tone

• No verbal communication

• Limited mobility (he crawls on tummy)

• Tonic seizures

• Slight hearing loss

• Ulnar deviation

• Swallowing issues

Since diagnosis Bowie has continued with his therapies and is a typically well child. His usual medical obstacles are tonsillitis and ear infections. He is quite a calm and happy boy. He loves to flap toys, or anything that can be flapped, handbag straps, drs stethoscopes, anything he can get his hands on. He has learnt to prop on his forearms whilst lying on his tummy and commando crawls to where he wants to be. He is a very cheeky boy with an infectious smile. He has three big sisters that love him and dote on him and we his parents feel very blessed to have him in our lives. He has taught us so much. He’s our superstar!

River

After a seemingly perfect pregnancy River came 4 weeks early, on April 5th 2015 weighing 5.7 pounds. He was taken straight to neonatal ICU because I had a rough delivery and placenta abruption. The doctors suspected he had a syndrome because of his prominent eyes, clinched hands, port wine stains, small head, and downwards wrist. He got an MRI and they noticed he has partial ACC (Agenesis of Corpus Callosum). He was having breathing and feeding difficulties so he was on c-pap and had an ng tube. He had very noisy breathing and he was throwing up all the time. And ENT came to check out his airway and saw that he's got laryngomalacia (floppy/narrow airway) having the extra air blowing into his nose was helping him breathe well for a couple weeks but his reflux continued to get worse. He was aspirating the acid into his airway which let his small larynx close. He was incubated, on the ventilator, and heavily sedated after that episode. Finally, he was stable enough to get the Nissen Fundoplication surgery and G-tube at the end of May. He progressed so well after the Nissen but his airway swelling still did not go down any. He was finally able to get the tracheotomy in June after fighting off pneumonia. He came right off the ventilator a week after surgery! He was doing awesome and we were ready to come home. It took about a month for my husband and I to do all of our training to learn to take care of his trach and G-tube and to get set up with the in home nurses. Finally, after 100 day in the Hospital River was able to come home. The day before we came home the doctors brought me some print outs from the Bohring-Opitz Website and most of the symptoms matched him perfect. We have been clinically diagnosed but we are still waiting to get the gene testing done. We have plenty appointments with Gastroenterology, ENTs, Pulmonology, Eye, and Neurology in the future but these past 3 weeks River has been home and he's been gaining weight and learning.

Annessia

I found out I was pregnant in early spring of 2010. Annessia's father and I were very excited and nervous of course. My pregnancy was pretty normal. I actually enjoyed being pregnant. I never had heart burn or sickness. At about 7months my stomach started to measure small, and I also had some fluid loss so they placed me on bed rest. The doctors thought nothing of it and said they would see me a month later. At my next check up I was still measuring small and again had some fluid loss. They then decided to start giving me non stress tests and I had to be seen every week. Everything still seemed fine besdies my fluid loss. Well at my next appointment my fluid had dropped down to 8 (unsure of what fluid is measured in) but I know 5 is considered to be dangerously low. Seeing how I was full term they didn't think anything of it and sent me home. The next week came and they measured my fluid again, this time it was at 1.9!! Instead if taking my daughter emergency c section (like they should have) they induced me and left my daughter in there for another 18hrs until I gave birth. Everything seemed normal until it came time for me to push. My contractions had stopped. They thought it was machines and such but nope, my contractions had literally stopped. It was a guessing game on when to push. When Annessia was finally born her stats dropped rapidly and she did NOT cry. As you can imagine my heart sank knowing something was wrong. As the doctor was taking care of me I could her the nurses and other doctors whispering. While the grandmother and father tried to listen in, the doctor started asking me questions like "are you sure you didn't drink or do drugs?" (I did everything right in my pregnancy, I didn't drink or smoke, I drank the amount of liquids I should have, heated up lunch meat and didn't even drink pop. I was very pre cautious) I was very astonished he even asked me but I answered him "NO, check my screenings" he then had the nerve to say to me "well her eyes are puffy and she looks like she has Down syndrome" I quickly fired back in anger and sadness. Her eyes were puffy because I had a dry birth due to fluid loss.

Once I finally got to hold my baby I quickly realized her wrists looked "broken" one worse than the other. It almost looked as if she was double jointed. The nurses asked if they could take the baby to run some tests and try some feedings so we let them. Much to our surprise Annessia wasn't tolerating feeds. She would throw up and turn purple while trying to eat. Before I had Annessia I was against breast feeding or pumping. Once she didn't tolerate the formula I realized that I needed to pump breast milk. Amazingly I pumped about 2oz from each side my first time.! It was a blessing.( I produced more milk than any other parent in the Nursery) the next morning I was woken up to nurses telling me that they had to take my daughter by ambulance to another hospital that had a NICU because Annessia wasn't doing so well. I as devastated and scared. They let me say my goodbyes and they took my baby from me. Her dad and grandmother followed the ambulance to the NICU so Annessia wouldn't be alone. I however was not allowed to leave the hospital because I broke my tailbone. Annessia was born December 22, 2010. At 9:15pm she was 5lbs 7 1/2 oz and 18inches long with a head full of dark black hair (almost like a wig) Just three days before Christmas.

I was released to finally go see my baby at on Christmas Eve (December 24th) I was so afraid to hold my baby because she was so tiny. It was so unreal that my Annessia was in my arms finally. But I couldn't hold her long due to her needing to be in an incubator. She had many issues with her oxygen levels dropping, heart rate dropping and trouble feeding. Everytime I would try to feed Annessia she would turn purple. After some time we figured out that she was aspirating and they placed a feeding tube in her nose. Once Annessia started doing better she was transferred to another NICU closer to home. There we found out Annessia had a sub mucus cleft palate and that I would not be able to breastfeed when she was ready to eat by mouth. I was stuck pumping. Then we were finally introduced to Thickner to add to Annessia's liquids. They set the goal at honey consistency. It worked wonderfully. Annessia finally could eat by mouth without loosing oxygen. (It was a good thing she had a nice strong suck) at one point they thought Annessia was blind and deaf (testing proved she was able to see and hear) she also needed hand braces to fix the poor posture of her wrist. once she overcame all of those obstacles, she had another one to hurdle over before they would let us go home. She wasn't gaining any weight. Very little to none.

Annessia was released from the NICU January 11, 2011. She had to have frequent check ups for her weight gain and issues with constipation, then we had to start seeing specialist. On May 5,2011 Annessia had an MRI which determined she had missing brain cells. The Neuro that she was seeing at the time failed to tell us that Annessia was at high risk for seizures due to this. Never gave us any seizure first aid tactics or paperwork to look at. Annessia had her first seizure February 2,2012. (Just over a year old) Due to the lack of knowledge we did everything wrong and she stopped breathing and choked on her saliva. She came out of the seizure and was taken by ambulance. The doctors ruled it febrile and sent us home with rectal Valium (diazepam), again with no knowledge of seizure first aid. So we had to educate ourselves. May came along and boom, another seizure. 15 minutes long.! She was given the Valium to stop the seizure. Got to the hospital they did a spinal tap and again ruled it febrile. June came along and Annessia started twitching in funny ways. Something wasn't right, I rushed her to the ER. The doctors thought I was crazy until one of them seen the twitches. They immediately admitted her, Did a sleep study, another MRI and EEG and found seizure activity. She was placed on Keppra and we were finally given seizure first aid.! (At this time we went to a diff hospital)

September came along and Annessia had her first surgery (Adenoid removal). She tolerated the surgery very well. Her adenoids were removed because they were too large. December came along and it was decided Annessia needed leg braces to help support her weight. (Annessia has received OT, PT and speech since she was a month old) (Annessia learned to sit on her own after being a year old, she crawled at almost 2 years of age and also got her first tooth at this time, received her first pair of glasses in 2013 at almost 3 years old and started walking in a walker in 2014 at 3 years old almost 4 years)

2013 came along and it was again thought that Annessia was deaf so we got a test ran while she was asleep. Come to find out Annessia had "selective hearing" haha she only chose to listen and pay attention when she wanted. Besides that 2013 was a great year with little complications.! February 2014 Annessia said her first word "momma" it was a miracle. We were told Annessia would be a vegetable and never walk, talk, crawl, sit on her own, feed herself or anything. But she did it and still does all these things.! Then came April 21,2014. The worst day of my life. I received a phone call at work saying that Annessia had stopped breathing and that she was being rushed to the ER. Once I got there it was like a horror movie. Code pink being called over the monitor, tons of docs and nurses flying right past me... All going to her room. They warned me of what I was about to see... Annessia was intubated and not breathing on her own. It was the most heart wrenching feeling in the entire world. I felt so lost. She was life flighted to Pittsburgh children's hospital where she would end up staying for the next 5 weeks. Once there they tried to remove Annesias breathing tube to see where she stood she immediately stopped breathing right in front of me and started seizing (after being seizure free for 2 years) they quickly gave adavan in her IV and re intubated her. Annessia remained on life support for 30 full days. It didn't look good, she had HMPV (human metapneumovirus) she then ended up getting MRSA from the breathing tube, another form of staff, and tracheitous. Those infections led to severe air way swelling (also Annessia was feisty and fought sedation, thrashed in bed and self extubated 3x while sedated) which all caused the intubation tube almost impossible to be removed. Then more bad news the infections caused septicemia (blood infection) as most know the infection spreads quickly and is very dangerous and life treating. Her chances didn't look good. I prayed so hard day and night that God protect my baby I had faith she was going to pull through. On the 30th day of being intubated her tube was finally removed.!!!!!!! It was a miracle. We were told we would have a long road ahead of us with intense rehab therapy. I don't think Annessia liked that idea because she made a full recovery in just over a week without rehab therapy! Doctors couldn't believe it.! Tell me that isn't miraculous.?!! The only unfortunate thing to come from this was Annessia forgot how to say "momma" She seemed to be doing well until December, she started lashing out, biting us & her teachers, started trying to bite and harm herself. It was because of the seizure medicine (keppra) we tried vitamin B6 to stop the anger and it didn't work.

In January 2015 we made the decision to change seizure medication, we couldn't have Annessia harming herself. We placed her on trileptal and ended up having many break through seizures (clonic tonics). 3 of which almost took her life. She flat lined during a seizure and her oxygen levels dropped to 12 and the levels are supposed to be anywhere from 90-100. She ended up having 12 seizures in one day. It was a struggle for months. I have seen my child white, purple and blue so many times I can't even count. I have had the fear of almost loosing her 4x. By the grace of God Annessia is still here smile emoticon Annessia was then placed on Vimpat and klonopin which now controls her seizures. Although I have missed some things it is very hard to fit 4 1/2 years of my childs life into a story. She is an amazing little girl with great determination and happiness.! She has been through more than enough but continues to prove how strong she is.! Annessia has just recently been diagnosed after many many years of wondering why Annessia has developmental delay and low muscle tone and all the other issues we now know. On 9/9/2015 Annessia was diagnosed with Bohring-Opitz syndrome. There are only 43 cases WORLDWIDE, Annessia being 44. She is a miracle.! Thanks for following her amazing journey and supporting..!!

Some things i may have forgotten

-Annessia loves Bubble Guppies & Peppa pig

-She is ALWAYS happy and smiling

- She loves to be outside (when it's not too hot of course, we don't want any seizures)

-She loooovvvessss to swim

-Annessia has attended school since she was 3, I feel this has helped tremendously in her development

-Annessia loves to eat.!! Her fav food is Mac & cheese (like her daddy)

www.facebook.com/Annessiasarmy

Jackson

Captain Jack's  Adventures with Bohring-Opitz Syndrome

Our son Jackson was born  Feb 2012 when Mom Tracy was 39 weeks along. The Obstetrician noticed that Jack's Femur bones were not growing anymore so it was decided to induce Mom and bring Jackson in to the world . During the induction the contractions started making Jack's heart rate drop below a level that the nurses were comfortable with so they stopped the induction medicine for the night to allow Jackson's vitals to recover. The next day they started the induction medicine again and broke Tracy's water to help speed along the delivery. During the delivery the Dr. Said that she needed to use a vacuum to aid in the delivery because Jackson's heart rate was going and staying low again and he needed to be delivered ASAP.

When Jackson was born, we knew there was something not quite right. Jack didn't cry or make any loud noises and was a little jaundice. Jackson's Oxygen level was low and the nurses used small suction hose threaded though his nose to clear his passage ways. You could hear gurgling sounds when Jackson was breathing. They kept Jackson under the heat lamp to get his body temperature up. Jackson was born with a FULL head of bleach Blond Hair and long side burns down to his jaw line( I called them mutton chops).  After Jackson was born , nurses took a little blood from his heal and tested his blood sugar levels, the result came back that his level was low. They gave me a formula bottle to feed jack and he sucked down the formula like had never eaten. Shortly right after drinking his bottle Jack threw it up, this went on back and forth over the next 8 or so hours. Finally the nurse took jack  to the nursery to see if they could feed him and get him to keep the contents down.   

Over the duration of the 3-day stay at the hospital the nurses tried to get Jackson to latch on for breast feeding but he didn't have any interest plus Jackson was born with such small features (mouth, nasal passageway) that it was very difficult for Jack to breath when he had anything in his mouth.  

Two weeks after being home from the hospital Tracy brought Jackson to the pediatrician for his two week checkup. The doctor told Tracy that there is something wrong with Jack, "He looks Odd" " Like he is missing a chromosome and possibly looks like he has Down Syndrome, and told Tracy we need to schedule a MRI ASAP because  she didn't think Jack's brain was operating properly . Tracy called me from the parking lot of the pediatrician's office crying telling me what the Doctor said to her.  I left work right away and meet Tracy and Jack at home.  After Tracy and I discussed what the doctor had said, we canceled the MRI and decided to go see a different doctor for another opinion.  We found another Pediatrician and brought Jackson in for his 2 week check up. This doctor made a comment that Jack had some odd facial features, (when pressed for clarification the DR. wouldn't elaborate) and suggested that we see a geneticist. We mentioned to her that Jack was still throwing up violently after feedings. The doc said he may have reflux.  When she listened to his lungs she heard fluid so she suggested we get a chest xray. Tracy also asked the doctor about the blueness around Jack's lips (sometimes bluer the others) the doctors response was "that's normal".

After the chest x-ray they saw fluid in his lungs which they said he had been aspirating his formula when feeding.  We were then told to see a Pulmonary doc which lead us to Dr. Pryor pulmonary at Mpls Children's.  Dr Pryor brought us into his office and showed us the chest x-ray on his computer.  Jack has abnormally wide spaced ribs and 2 floating ribs on his left were fused together, and fluid on the top of his lungs. Dr Pryor sent us downstairs for a contrast X-ray(swollow study) to see what happens while he drinks from his bottle.  The images showed that once fluid was being passed down to his stomach the fluid was automatically coming right back up and being aspirated in to his lungs.  Jackson was immediately put on liquid Zantac. We noticed improvement with in a week. Dr. Pryor suggested that we see a geneticist, he said the rib abnormality could be nothing but it would worth looking in to it.

We went to see Dr. Dugan a geneticist at MPLS Children's and during her examination she said she could hear a murmur in Jackson's heart, and she noticed the blueness around Jackson's lips, She said should would like us to immediately go up to Cardiology and have an Echocardiogram  done. Tracy and I agreed and went up stairs to the cardiac department to have it done.  After the Echo was done we were directed to one of the waiting rooms. Dr. Burton our first Cardiologist came in and told Tracy and I that Jackson has a significantly large hole in his heart in the upper chamber and it is called Atrial Septal Defect (ASD). Dr. Burton said that as long as Jackson "thrives" and doesn't lose weight or plateaus they could wait until Jackson got older and bigger to hopefully repair the hole with a metal mesh patch instead of performing open heart surgery . Dr. Burton suggested that we come back in 6 month to have another echo cardiogram done to keep an eye on the size of the hole to make sure it was stable. 

Back to the genetics part.  While meeting with Dr. Dugan she that Jackson did have some type of syndrome, due to features that Jackson exhibited. Dr. Dugan pointed out the amount of hair that Jackson had on his head hair line, his back and appendages. She also noted the tilting backwards of the ears and the size of his nose. While this was all difficult to hear Tracy and I could rationalize some of Jackson's features to family traits. But we did agree to have some genetic blood tests done, and agreed to allow the department to photograph Jackson for study.  Over the next 4 years we had the following Genetics tests performed.

• Coffin-Siris syndrome
• Fragile X syndrome
• Noonan syndrome
• Exome sequencing (also known as Whole Exome Sequencing, WES or WXS)

Jackson has had 2 MRI's, 1 when he was around 1 ½  and a EEG . The first MRI showed a small Cyst on Jack's pituitary gland. But everything else looked normal. The 2nd MRI was around 3 ½ years old, and this time the Cyst was now gone. The first neurologist although nice, said that he was happy that Tracy and I were Jackson's parents  "Because Jackson is going to have a rough life".  All I could think was "really!? Thank you Einstein!  We changed neurologist and we love him!

The unofficial diagnoses that we were given at MPLS specialty department when Jackson was around 2 years old was "Severe global delay". No one really wanted to take a stand and say "yep this is the diagnosis we are going to give" and write it in his chart. 

And on 5/17/2016 Tracy received a call from the MPLS genetics department, they found a mutation on Jackson's  ASXL1 gene which confirmed Bohring-Optiz Syndrome.  As difficult as this was to hear, we were glad to finally have some type of answer to all of Jacksons issues. Now we can focus even more on how to help Jacksons quality of life be all that it can be and help spread the word of this little know Syndrome that we are sure inflicts a lot of children but have yet to have the testing (for multitude of reasons) done for it.

Thank you!

Jackson, Tracy & Russell

Lennon

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.

www.bos-foundation.org

Hazel

I had a healthy pregnancy. At my 38 week check­up, the midwives were concerned about Hazel’s vitals. They did an ultrasound and discovered she was very small. I was induced that evening. Hazel was born 4lbs9oz and was 17 inches long. While trying to feed her the following day, she turned dusky and was whisked to the NICU. She was silently aspirating. She spent a month in the NICU before leaving with a G­tube.

She immediately began getting OT for feeding. It was very challenging to find the right nipple that would work for her (she had a weak suck) and the right thickness of milk. After about six months of therapy and finding the Nuk orthodontic nipples, I was able to try to exclusively feed her by mouth. It was scary, as I was terrified she’d start aspirating again. She never showed clinical signs of aspirating, so at 9 months they let us take out the G-tube.

During this time we kept searching for a diagnosis. She was tested for Prader­Willi and had the microarray done. All tests kept coming back normal, which was both a relief and a  puzzle. She was recently diagnosed with occipital lobe seizures and takes Trileptal. She also battles constant constipation and is on Miralax daily for that.

Hazel now feeds exclusively by mouth but mainly formula and some purees. She still lacks the maturity for real solid foods, but we practice.

Hazel began rolling over after the G­tube came out, and she has head control but can tire easily and prefers to lean her head against support if it’s available. She cannot sit on her own but she’s working on it. She isn’t crawling yet, although she sure can roll across the floor!

She is starting to make new sounds, but isn’t verbal. But she can certainly communicate pleasure and displeasure!

Hazel was diagnosed with BOS at 20 months old through whole exome sequencing. We started a new journey in trying to understand this very rare syndrome.

She loves being outdoors, enjoys playing with her dad, and really responds to lights. She likes textures and feeling rough things especially. She is known for her masses of curly blond hair and her mint green glasses. She is the sweetest, toughest girl we know!