Shortly after Coby had his first bottle, he began to show signs of unusual breathing, or tachypnea, which means he was breathing very rapidly. Coby continued to do this intermittently during his 11 day stay at the Magee Women's Hospital NICU. During Coby's stay he was given a micro array genetics exam that showed normal for all of his chromosomes. Doctors tested and examined his lungs, heart, and brain and everything came back normal. Coby also had a feeding evaluation that he passed, showing that he could successfully take a bottle. We were finally sent home with what they called, "a baby that breathes funny." And we were SO excited!
The next day, a home health nurse came to visit Coby at our house. She said she had never seen a baby breathe quite as fast as he was and not be on a heart/breathing monitor. It was then that I decided he needed to go back to a hospital, but this time we chose to take him to Children's Hospital in Pittsburgh instead. When we took him to the ER at Children's, Coby, thankfully, was surrounded by a room of doctors when he turned blue and stopped breathing for a few moments. We were admitted to the NICU there immediately.
At Children's, Coby remained a mystery for two weeks. Coby was seen by neurologists, pulmonary, and ENT doctors. He had an EEG and brain ultrasound that showed normal. He had a few different scopes of his throat, which showed that he had a clefted epiglottis and a deep interarytenoid notch which we thought could contribute to his breathing and/or eating struggles. Feeding had also become an issue for Coby at this time. He was seen by Speech & OT daily, and continued to have breathing issues after taking a bottle. Coby had a swallow study that showed he aspirates, or chokes, on thin liquids. We tried thickening his formula, but that seemed to worsen his breathing and made him congested. He also had a saliva-gram done, which showed he does not aspirate on his own saliva. All of these specialists and tests, and yet no real answers as to why Coby was having these problems.
It was not until Coby had an MRI of his brain that we found the cause of Coby's breathing. Doctors found a "molar tooth sign" on his MRI and that part of his cerebellum had not fully formed. When you add these two together, it is suggestive of something called Joubert Syndrome. It is considered rare in that there is a 1 in 100,000 chance of being born with it.
A pediatric neurologist came to speak with us and confirmed that she believes Coby does indeed have this syndrome. Coby had already had his blood sent away to a fancy genetics lab, as well as samples from Mummy & Daddy, to test all 20,000 of his genes. When his test results come back (4-12 weeks), we can confirm his diagnosis.
Joubert Syndrome, much like an syndrome, has a wide variety of symptoms. You can have all of them or just a few of them. What is important to know, is that we have no idea which part of the spectrum Coby falls on. Typically, Joubert Syndrome can impact coordination and balance, speech, & include developmental delays, as well as what feels like a million other functions we take for granted.
Coby will have his first surgery on 6/27 to place a g tube, a feeding tube, in his belly. His surgery will also include a nissen, which means they will close the gap between his stomach and esophagus to prevent any reflux. This is the safest, and temporarily permanent, way for Coby to get nutrients until his breathing issues resolve. This tube is also the answer to getting us home so we can be together as a family after over a month long stay in the NICU.
When Coby's genetic makeup comes back, hopefully it will paint a picture for what his life will look like. We won't know that for quite some time, however. For now, and always, we will treasure each day that we get to watch Coby grow and surprise us. He has a long journey ahead of him with therapies and surgeries, and we are lucky enough to get to be his parents for the ride.
We are forever grateful to our family and friends who have shown us so much love and kindness during the most difficult moments of our lives. Thank you for continuing to love on our family & wish us well. We appreciate all of it!
- Bob Gardner
- The Cooks
- Employees Eric Ryan Corporation
- Ashley Krakovsky
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