11 months old now, Baby J. has defied all expectations. A recent review by her therapists determined that, at 10 months of age, J. was functioning at a roughly 7 month old level. When J. was 6 months and we first received her diagnosis, we estimate she was at a 2-3 month level, so this is truly amazing.
I have to say, though, I was hoping (and maybe kidding myself a little) that J was further along than 7 months, so I was surprised and disappointed to hear that. Regardless of what age level she’s functioning at, however, her progress is undeniable.
J. is so close to crawling, she’ll be making that milestone any day now. Essentially, though, we already have a mobile baby. She’s excellent at problem solving and uses pivoting and rolling to get anywhere she needs to go. She’s becoming more social all of the time. She smiles at us, and laughs at things we do. For a long time she would only laugh if we moved her arms or bounced her in a way that she liked, but recently she laughed because I was slapping my hands on her highchair tray, and then she copied me!
She is reaching much better, too. In the bath (the kitchen sink) she’ll hold onto the edge with her left arm for balance and use her right arm to reach behind her to the left to grab her duckie. When I first saw her do this I was so amazed. Not only was she reaching across her body, but she was doing a protective motion (holding on for balance) and twisting from the waist. She’s becoming way more aware of, and comfortable in, her body and I give her occupational and physical therapists all the credit for that. Things like this really make me think about our situation. I’ve never heard anybody with a baby exclaim that their child had learned to reach behind themselves for something--for most children, I imagine, this is just a natural progression and unremarkable, but for J it’s a huge accomplishment!
The biggest change in J by far, though, has been her vision. J reached for that duckie not only because she knew she wanted it, but because she could SEE it! She can figure out how to get to things across the room from her, now, because she can SEE them and set that goal for herself. She’s smiling and laughing with us because she can finally see our faces. And I cannot describe the joy that I feel every time J looks me in the eye. I have waited so long and so patiently for this. Her eye contact is still very brief, I think she can see well enough to know that she’s not seeing all the detail that’s there, which is uncomfortable for her, but her vision is improving exponentially week by week.
In early October J was officially diagnosed by a third pediatric ophthalmologist with Delayed Visual Maturation. This doctor did a preferential looking test with J (which no one else had) and was able to determine that the potential for vision is there, it’s just not developed. We, of course, were elated. The doctor suggested that J’s vision would likely normalize by age three. He also said that he wouldn’t even recommend that we do any special vision training or vision therapy with her, as her vision will be what it will be and nothing we do will expedite or improve its development. We decided, however, to keep her in vision therapy at the Helen Keller Services for the Blind in Brooklyn just because we are already established with them and we figure, even if it serves no benefit to her vision, it can’t hurt and it’s good for her overall physical and social development.
We are thrilled with J’s steady progress and count ourselves lucky. In all of our research about Infantile Spasms, we knew early on that the prognosis was poor and that her outcome could really go in any direction. It still could, we’re not out of the woods yet and it’ll be years before J’s deficits are completely known.
Mid-November we saw a geneticist at Cornell. T and J and I all had our blood drawn for testing. We signed a form to have any secondary results released to us, too. What that means is that any incidental results found simply due to the broad nature of the test will be recorded and reported to us. The testing is called whole exome sequencing and has the potential for finding (in J.) any genetic predisposition for Infantile Spasms or epilepsy (primary findings) as well as any treatable, preventable child-onset disease (such as cancer, among other things). In T and I, any adult-onset diseases, such as cancer, will be reported to us. I was on the fence about whether or not to get these secondary results. The thought of knowing J’s or our odds of getting cancer is pretty ominous, but the geneticist assured us that anything we couldn’t do anything about (like Huntington’s Disease) is not included in the findings.
We have an appointment scheduled for mid-February to discuss the results with the doctor, as entire-exome testing takes a few months to come back.
All other tests for J up to this point have been negative.
If J’s exome testing results are negative, that will be the end of our investigation into the cause of her IS and her case will be determined cryptogenic. Dr. Bluvstein at NYU--who we finally were able to see on Nov 3rd and is just wonderful--is still expecting to find something, though, because of J’s history of developmental delay which preceded the onset of her spasms.
The more we think about it, the more confident we are that J had been having seizures for a while before we were able to define them that way. She used to have a lot of ticks that we never even knew could be seizures (and even sometimes smiled about, thinking they were cute!). The idea of having seen spasms, but never thinking it could be something serious is so frustrating, but there’s no way we could’ve known. Infantile Spasms are so, so subtle. Now every time she does something strange and repetitive it sends me into a panic. T and I both Google everything to see if other, healthy babies her age do anything remotely similar, to put ourselves at ease. Most recently she’s started shaking her head which gives me a pang of anxiety every time I see it, but which I think is a normal, new movement for her. Her eyes don’t glass over when she does this and she never fusses during or after. Most often, she’s doing it when she’s tired. A few months ago she went through a phase of hitting herself in the head when she was tired, which a quick Internet search led me to believe was not an uncommon self-soothing mechanism in some babies (I’ve read similar things about the head-shaking), and which she eventually outgrew.
At the beginning of November she had her third overnight vEEG. Our epileptologist was not there (and now she can’t see us to discuss its results until January . . . we are planning to speed up our transition to Dr. Bluvstein who has been far more accessible to us), but the on-call neurologist told us that the vEEG was near normal. I was disappointed that it wasn’t completely normal, especially since her last one was “near normal,” too, but our epileptologist said it may never be. IS can leave a “scar” of sorts on the brain, resulting in perpetually, slightly abnormal EEG readings.
Doctor’s appointments and therapy sessions have become our new normal and we’re settling into it now. I wish we could’ve known back in July, when we heard J’s diagnosis, how things would be five months later--we might have felt a little better about things. J’s future remains unclear but we’re more hopeful, and less cautiously so, all of the time. For now, J’s doing wonderfully and we’re really enjoying her first holiday season!