How we knew

At this point you may be wondering how we could have known that J. had Infantile Spasms to begin with? As I mentioned in my previous post, though heartbroken, we were not surprised by her diagnosis. That story really begins when J. was one month old.

J. was born by C-section at 39 weeks and 1 day. She was 7 lbs 15 oz. A beautiful, healthy baby girl. Her birth was uneventful. She had difficulty nursing due to a tongue tie we opted out of correcting. Because of this, she was half breast fed and half formula fed until 5 months. In the hospital, she lost some weight initially. Some of the nurses were concerned and some weren’t. My C-section was bumped twice by emergency Cs, so instead of going in at 8:00am we went at 12:30pm. All the while we waited, I was receiving intravenous fluids for hydration. One nurse theorized that J.’s birthweight was inflated because of the extra fluids and that most of what she shed (13 oz in the hospital) was due to this. We agreed, that made sense to us. Still, she was jaundiced as well, so they had us supplement with formula. Once her weight came back up, I laid off the formula for a while, but succumbing to the pressures of exclusively pumping, we incorporated it back into our feeding routine at about 3 weeks.

After all of that, J.’s weight gain really took off. She’s always been a great eater, a good sleeper, and she gains steadily. She’s now somewhere between the 97th and 100th percentile for weight, and pretty high on the height scale, too. I was a heavy baby and am now thin and average height. Dad was a heavy baby and is now thin, but also 6’4”, so it’s really no wonder where Baby J.s’ size comes from.

Her first month of life was magical. I felt energized, happy. She was a calm, relaxed baby. Loved to snuggle. Never cried, unless she was hungry. We had to set alarms to wake us up, to wake her up for feedings because she would sleep for hours.

Around 6 weeks though, things began to fall apart. J. became very colicky. She cried for hours every evening and was fussy all day (that is, when she wasn’t sleeping, which she did a lot). This went on and we took solace in the notion that colic usually ends around 4 months.

At around 2 months, I started worrying about her eyesight. She never gazed at us as other babies would do. I had a friend whose son was two weeks older than J. We would go for walks in the park and he would be so distracted by his surroundings that he couldn’t concentrate on eating. By contrast, J. would stare downward, blankly. Not at me, or at the trees, just at nothing. I tried to discuss this with others--I posted on mom boards and brought it up to my partner and my friends and family--but everyone agreed it was too early to worry.

At 13 weeks she started daycare two days a week. She would be screaming every time I picked her up and it would last until she went to bed. It got to the point where the daycare teachers would meet me at the door with her and her things to get her out as quickly as possible. They were always polite about it, but the reports were usually that she’d been fussy all day.

The 4 month mark came and went and there was no change. She was still grouchy and still not making eye contact, or tracking her toys.

We took her to a pediatric ophthalmologist and that’s when the possibility of ONH was first presented to us. We were beyond devastated. On top of that, the doctor really wanted J. to have an MRI for which she would need to be put under general anesthesia. The MRI was scheduled for June 16th and J. would be only 5 months old. We panicked, briefly, and then I went into planning mode. I gathered as much information about what ONH was and what resources we would require and then I scheduled a second opinion.

That doctor asked me not to disclose was the first doctor had suggested was wrong with J. before he had a chance to assess her. Ultimately, he decided that J.’s optic nerves looked normal to him. We cancelled the MRI.

A second visit to the first ophthalmologist 2 months later produced the same conclusion. He even told us that he felt sure that J. had Delayed Visual Maturation and that her vision would soon begin to improve.

That was two days before we were admitted to the hospital.

While all of this was happening, J.’s mood had improved some. For a couple of weeks after she hit the 5 month mark she was a whole new kid. A week or two before we were admitted, however, things had begun to regress. She was becoming irritable again, she was smiling much less (at most, one smile a day) and babbling much less. She wasn’t standing up as well. She was slumping over, having trouble holding up her head. She was sleeping a lot.

Wednesday evening, after the last ophtho visit, while sitting in our living room we noticed something strange. My partner was holding J. in a sitting position on the floor and all of a sudden she shrugged her shoulders and pushed backward. We definitely noticed it and thought it was weird--we’d never seen her do something like that before--but it was just once or twice so we sort of ignored it. .

The next evening we were lying in bed with her, again my partner was holding her in a sitting position, this time on his lap and she did the same motion again. She did it a couple of times and then stopped, but this time I noticed she was pointing her toes and I knew that couldn’t be good. It wasn’t normal. I Googled “muscle spasms in babies” and the first several results were for Infantile Spasms. I read about it, but the descriptions of the spasms there didn’t sound exactly like what J. was doing. Also, it’s very rare. I didn’t even tell T. what I had read. I decided just to wait and see if the movements ceased.

The next morning, while at work, I received a text from T. asking what I had read about J.’s strange ticks. I told him that I’d read they could be seizures. He said she’d had another bout of them but this time she’d become really upset and cried. I lost all focus. I hardly did any work that day. I spent all day reading about IS and watching videos of children doing exactly the same thing J. had been doing. How I managed to keep it together until the end of my shift, I’ll never know. T. took her to the pediatrician and when I got home he told me we were going to the hospital. We packed up and left, completely unaware of just how drastically our lives were about to change.

In hindsight, all of J.’s abnormal behaviors--which we had attributed to different afflictions--can be traced back to her IS. J.’s vision therapist now believes that J. has cerebral visual impairment (CVI), a fairly common side effect of seizure disorders. Children with IS are often misdiagnosed with colic, and looking back, J. had other bizarre tics that very well could have been seizures (staring blankly for seconds at a time, head bobbing (which can also be attributed to her blindness), bowing the head and bring the hands up in a prayer-like position). Of course, I wish we would’ve known then that these were something to be concerned about, but there is no way we could have known. Our neuro team praised us for noticing her spasms as early as we did. They told us that she received the earliest possible diagnosis.

The most frustrating part is that I have always known there was something off about J. but I could not put my finger on the issue. It seemed so unlikely to me that J. happened to have vision problems, poor head control and colic and they weren’t related (plus she has always napped a lot, she had a chronic cough and was constantly--I mean constantly--rubbing her eyes). I knew that she wasn’t behaving like a normal baby and I hate that I was always told I was just experiencing normal new-mom anxiety. I was anxious. Very, in fact, I was constantly having terrible visions in my head of things happening to J., of her getting hurt, and I was constantly checking on her to make sure she was breathing. I was barely functional. Ever since she was diagnosed, however, that anxiety has abated quite a bit. One would think I’d be more nervous now that I have empirical evidence that there is something wrong with my child but I have always known there was, and now I know what it is so I can work with that. I still have my days, but it’s much better.

As a mother who has been there, my advice to you, if you are following our journey because you’re worried about your own child, is say something. Even if you can’t explain why your child does not seem right to you, trust your instinct. I wish I had. If nothing else, you will be able to say that you tried and maybe the doctor will put your mind at ease.