This mom fought for her baby’s diagnosis

Katie’s baby, Jack, was a welcome addition to their family, but medical issues cropped up right away. Many doctors, hospital visits and tests later, they know what their little guy is facing, but it took Katie’s strength to keep pushing for Jack to get him the care he needed.

Katie’s first pregnancy was complicated and resulted in an early birth and a small baby, but he grew and thrived with no lingering issues. Her second pregnancy was also high risk, but her baby has had a multitude of issues. Katie’s keen intelligence and scientific mind helped her push hard to get baby Jack the help he needed.

Katie, born and raised in the Cleveland, Ohio area, showed a lot of interest in science and teaching from a very young age. “My mom recalls a kindergarten field trip to the park where I was identifying wildflowers whereas most kids were just running around,” she said. She and her group of friends spent a lot of their time playing school — making up imaginary students and teaching them — so it’s no surprise to her that they all turned out to be teachers.

Katie knew that her first son would be named Edward IV, as her husband is Edward III — so picking out a name was really the only easy part of her first pregnancy.

Her early blood screening took her age-related risk up to 1 out of 30, and paired with the possibility of her child inheriting her husband’s connective tissue disease , she underwent CVS, and found out they were expecting a boy.

Gestational diabetes surfaced at 20 weeks, and her blood pressure crept up starting at 30 weeks. She made it to 36 weeks, and with a blood pressure of 200/120, she was induced. Forty-two hours later, little Eddie was born at four-and-a-half pounds and with a shock of red hair. “I love his hair,” she shared. “Everyone loves it. Eddie is a character. He loves gardening, sports, going to the playground, his grandparents, his brother, Curious George and bowling!”

While not as complicated as her first pregnancy, her second was still high risk, and she went into the pregnancy knowing that complications could set in. She and her husband were confident that one child would be enough, but to see what happened — and happen it did. She conceived quickly, and while her blood pressure was fine thanks to medications for most of her pregnancy, it started to be an issue at around 33 weeks. Regular contractions and high blood pressure landed her in the hospital, and inadvertent double blood pressure meds led her straight to a C-section.

“After they pulled him out, it was so quiet, I didn’t hear cries, I didn’t see anyone trying to show the baby to me or my husband — but it also didn’t sound panicked,” she remembered. “I remember them wheeling the incubator past me just long enough for me to see his sweet, sad face looking at me.” Jack had a little trouble breathing and had to spend about six hours in the NICU before she was able to see him, and she herself had difficulty breathing after his birth. “They moved me at 3 a.m. and expected this out-of-it mother who sent her husband home because there was no room in the recovery room, to room-in solo with Baby right after a C-section, who couldn’t breathe or feel her legs. How safe is that?“

Jack’s first month was healthy and normal — until Eddie got sick. He spiked a 104-degree fever and had a rash. Eddie seemed to be fine until a few days later at church he was a little crankier than usual. That night, he felt warm — too warm. His temp was 101.4. “I Googled and found that a temperature that high in a newborn is always a medical emergency,” she said. “I knew we would be going to the ER but phoned the nurse on call, and he confirmed we would have to go in.”

The doctor on call said that they needed to take precautions with babies this young — he would need to have a spinal tap and be on antibiotics for 48 hours.

“I remember asking, ‘48 hours?’ Seriously? Like she said 48 days or 48 years.” The first night was uneventful, with the doctors telling Katie and her husband that it was just a virus, and treating with antibiotics pending spinal tap cultures. “The second night there, though, he was completely inconsolable, his fever was out of control, not responding to Tylenol, and his abdomen started to expand at an alarming rate.”

Jack stopped wanting to eat, which the doctors explained as a sore mouth, but Katie remembered telling her husband it seemed neurological. Katie noticed that he was blinking oddly — like he’d hold one eye open, then it’d shift to the other. He was in the process of being evaluated for a potential intestinal obstruction when he had a seizure. “What I didn’t know at the time was that neonatal seizures are very subtle,” she explained. “Eye blinking, barely noticeable rhythmic jerking of limbs, lip smacking. Things started to get a little frantic.”

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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 , 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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