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.
Jackson, Tracy & Russell