2 Months Post Diagnosis

Today marks the 2 month anniversary of the day that Baby J. was diagnosed with Infantile Spasms.

This month’s highlights:

• J. learned to roll from belly to back
• J. laughed for the first time <3
• She is reaching for some brightly colored toys by sight
• She can hold her own bottle
• She has been seizure free for almost 2 months!
• Therapy is starting; so far we’ve seen our new speech, and physical therapists
• J. had to go on levocarnitine to treat low carnitine levels (still taking Topamax and B6)
• We visited Maine!
• J. had her first fever which landed us [nervous parents] in the ER (she was fine)

J. is doing great. She has her less spectacular days, still, but most days she's happy and appears to be thriving. She smiles a lot, and as mentioned above, she's laughing sometimes now, too. She has such a nerdy laugh! We love it.

Despite all of these positive developments (nevermind the fever thing), it’s been a very difficult month for me. I can’t speak for T., but I can tell you a little about what I’ve been going through (in other words, please allow me to confuse you while I complain about being half-assed parent, and defend myself at the same time).

I am thrilled that therapy is finally starting. When I think about how J. was diagnosed two months ago, though, it feels like we’re getting such a late start. We’ve only seen two therapist so far, two have not contacted us yet and our Early Intervention coordinator has not been able to locate an available vision therapist for us, which is the therapy we need the most.

J.’s last vEEG was a week ago. It was only an hour long, and our neurologist has yet to call us with the results. We have a meeting scheduled with her for next week, which we set up ourselves, to discuss our concerns with J.’s progress, the timing of her appointments and inconsistent communication with her doctors.

The neurologist did not inform us that the third vEEG would be so brief, or that she would not be there to talk to us, and J.’s been presenting with some old behaviors that make me worry she may still be having bouts of hypsarrhythmia that would not necessarily show up on such a short EEG. The monitor was in a separate room, so we don’t know what it looked like.

Lately, I feel like we’ve been too complacent, too patient. Like we have not hounded the doctor enough, for answers, or kept on top of what I like to call, “all this medical hooey.”

We forgot to call in J.’s Topamax refill and were on the phone for an hour or more trying to coerce a pharmacy miles away (the nearest that had Topamax in stock) into advancing us a few capsules to tide us over until her refill could be authorized by the doctor. J.’s still behind on her vaccinations because we kept forgetting to ask the neurologist if she can have them now. She hasn’t seen her pediatrician in two months (we now have an appointment set for after the neuro meeting next week). The neurologist recommended we see a geneticist to uncover the underlying cause of J.’s IS, but when her nurse finally (after a week of calling twice daily) gave us the name, she said we couldn’t schedule an appointment until the last genetic panel they ordered came back. We’re still waiting for those test results. The neuro also recommended we see a neuro-ophthalmologist to get a solid diagnosis for J.’s vision problems, but never gave us his name (even after many, many calls). At this point, I’m tired of calling and I’m waiting for our appointment, at which time I will arm myself with a few choice words I’ll immediately forget the moment I see her.

This makes us sound like irresponsible parents, but the truth is, all the phone calls, the chasing doctors, the appointments, the therapy sessions, the medications--organizing and scheduling all of this could be a full time job. Plus T. and I are each home with J. three or four days out of the week, most of them we’re alone with her while the other is working as we’re both employed full-time, and caring for her alone is a big job, too. Of course it’s excusable if we drop the ball once in a while, I know that, but as a mother of a special needs child, I feel like I can’t be dropping the ball. Every passing day that we don’t know the answer to an important question, or haven’t heard from one of her therapists, I feel like we’ve lost precious time we could’ve been building a better future for her, a better outcome. But the calls and endlessly being told we’ll be called back (we never are) is exhausting. We need days off from all of that to pretend we’re a normal family, or we’ll really go crazy.

On Monday I spent some time (at work) frantically Googling Infantile Spasms specialists in New York. I found only one, at NYU. She’s not available to meet until November and I’m kicking myself for waiting so long to get a second opinion. Isn’t that the first thing you do when faced with a rare diagnosis? But, back then, everything was happening so fast. Now that things have slowed to a crawl, I suddenly feel like we need a new doctor, who will treat J.’s case with more urgency and be more communicative. In reality, we will never find a doctor who is as focused on J. as we want. We’ll never find a doctor who feels as personally responsible for her wellbeing and developmental outcome as we do.

Probably because, no one really is responsible for that (her outcome, not her wellbeing, we are definitely responsible for that!), and, unlike me, the doctors already know that.

On some level I do know that we really are doing everything we can for her. We can’t make that damn doctor answer the phone. What’s two more weeks when she’s already two months behind on vaccines? An extra half-hour session with a therapist this week is not suddenly going to improve her outcome.  

T., and I, and her grandmother, work with her every single day, doing vision exercises, PT and OT ourselves. I have to keep reminding myself (and try to believe) that parents who love their child as much as we do could not fudge up so badly as to destroy her future. It just can’t be possible. If we can’t have faith in ourselves, and in the professionals handling our case, then who can we have faith in?

That said, no one will advocate for our child if we don’t, so it is vitally important to keep on top of things as best as we’re able to, and we’re doing that, the best that two loving, devoted, employed, eternally exhausted parents can. And that will just have to do.