Ben

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??

 

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Vaughan

Vaughan

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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

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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!

 

 

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

 

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!