Katie was grateful that the NICU team was there to help her and her baby, although they seemed to be grasping for treatment — for example, when she shared the mouth sores Eddie had along with his fever and rash, they worried that it might be a herpes virus and treated Jack with an antiviral medication. They arranged to have him transported, which raised concerns about moving such a small and seriously ill baby. However, he went downtown to the PICU with only a little trouble.
Jack had a middle-of-the-night CT scan, which came back abnormal. There was a flurry of meetings with the PICU team that morning, with worry and uncertainty along for the ride. An MRI was revealed to be “normal” by one doctor, only to have their hopes dashed when they were visited by the neurology team. “My cousin was visiting and the neurologist asked me if I wanted him to stay,” she said. “I knew when he said that the news wasn’t good.”
Katie related, “He then gave us an explanation that will forever give this doctor the name ‘balloon boy’ in our minds. He said that the brain is like a bunch of balloons connected by strings. The gray matter was the balloons and the strings were the white matter. He told us that the white matter in our son’s brain was damaged and the damage was extensive in terms of area of the brain that it affected. I went in the bathroom and threw up.”
To top it all off, Katie was then questioned by a social worker as white matter damage is also sometimes caused by shaken baby syndrome. The social worker was very accusatory and questioned her husband separately. “I couldn’t handle this, after all I had been through,” she told us. She was also questioned by a pediatrician who specializes in child abuse who told them that if there wasn’t evidence that Jack had a fever that they would have called CPS. “I know that they have a job to do, and there are people out there abusing kids, but it was just the way that they went about it,” she said. “No one knows the lasting negative impact that that type of questioning has on someone.”
Jack was released and his parents were told that they just weren’t sure what his prognosis was, but to not lose hope. At a follow-up visit, his doctor diagnosed him with hypotonia, or low muscle tone.
“It kind of clicked with my husband and I that he might have always seemed a little ‘floppy,’” she said. “I read that hypotonia in infants could also be a result of Ehlers-Danlos syndrome (EDs), which is the connective tissue disease my husband has.” With a 50 percent chance of Jack having the gene, it started to make sense to them.
They made an appointment with a geneticist, and after a month, they had their answer. Her first son, Eddie, does not have EDs, but her husband and Jack do. “For me this was absolutely necessary to know sooner than later because the approach his physical and occupational therapists would be [taking would be] different than if it was neurologically based,” she explained. “We still don’t know the extent of his neurological complications, but at least some of it could be explained by connective tissue disease.”
After noting that Jack had started to display peculiar behavior during feeding times, she had him seen again by a doctor, as it seemed like he was having seizures again, but if he was, it was not picked up by an EEG, and the doctors had no answers. “Of course, I Googled it and immediately what came up was called Sandifer syndrome,” she said. “It is a coping mechanism that some babies use to combat the pain of acid reflux.” She had to do a lot of research and try a different formula that seemed to help, but he still had issues, and had a little trouble getting his reflux sorted out. “Things started to get better, but not great once he went on Prevacid,” she explained. “That is kind of where we are at still at. I think he is still struggling quite a bit.”
Jack qualifies for special services that come out to their home for occupational and physical therapy. “I really like it because I can ask someone what is normal or not and be evaluated in a more relaxed environment with someone who sees him once a week,” she shared. He also continues to see a GI and a neurologist for his continuing reflux and seizure issues.
Katie absolutely recommends advocating for your child if you have a question about his health or well-being. “You are the only one who is with your child all the time,” she shared. “You have to be descriptive, persistent and informed.” She also recommends joining support groups and writing down questions in advance of doctor appointments.
“I would also advise that parents take the time to enjoy the little things with their children and to sometimes step back from the medical aspects and just enjoy their babies,” she said. “It is something I struggle with a lot.”
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