Let me state – I love all my kids equally. I just have this up because Maura takes more explaining than the others…usually…
Usually when we meet someone new, we’ll say “Oh Maura has special needs.” Short and sweet and to the point. Sometimes, that’s enough. Other times, people want more.
So here’s the “more” version –
At her one year check up, the nurse practitioner noticed Maura had some low muscle tone. Maura wasn’t walking yet, so she suggested we come back in a couple of months if Maura hadn’t started walking yet.
At fifteen months, we went in for a check up with our perfectly normal, if a late bloomer, baby girl. We left with paperwork for a karyotype, to rule out Down Syndrome (which came back normal). That was Maura’s first blood test and first genetic test. It wouldn’t be her last.
Quickly, we realized that our baby, who was considered “normal” for the first fifteen months, was actually delayed in many ways. Looking back, I can now see the signs – how she sat up late, how she didn’t seem to babble until six months, how she couldn’t do the pincer grasp. She didn’t walk until she was almost two.
As you do in this sort of situation, we started all the rounds to all the specialists who ran all the tests. Which pretty much ruled out everything. (See comprehensive “what we’ve tested for” list below.) It became this running joke that every test would come back normal. It also became clear, as she aged, that she was not going to catch up by kindergarten – an idea that was thrown out at us in the beginning. Eventually, doctors stopped using the phrase “Maybe she’ll catch up.”
One day, when Maura was 4, she had her first visible seizure. On horseback during hippotherapy (because we can’t be normal in any way.) She had started a strong antibiotic the day before, so we wondered if maybe it was a weird side effect. A few days later, we had an EEG. I remember how she sat there, probes and wires coming out of her hair, laughing and watching “Blue’s Clues”. I was positive the test – like all the others – would come back normal.
I also remember the neurologist walking in, pointing to a spot on her head and saying “She’s having seizure activity right here.” I spent the rest of the visit stunned – partially because Maura actually had a test that had results. For the first time in her life, we had a name for something. Of course, it seemed really scary. Turns out, it was a good thing. A few weeks after starting the medication, Maura was beginning to speak more, could balance on a swing, pedal a trike. The area the neurologist had pointed to was between memory and motor planning. So much made sense finally, but it wasn’t the answer to all our questions. It didn’t fix everything, but it fixed a few things that made life more enjoyable for Maura.
Last year, her neurologist noted that she hadn’t had a visible seizure in over a year, and we successfully weaned her off seizure meds. In doing so, we saw a slight leap in skills, just like we did when she started the meds. That slight leap let us know we were doing the right thing, that it was time for her to come off meds. I say that her epilepsy is in remission, because I know it could come back.
Maura is now 12. Academically, she is about pre-school/early kindergarten level. She can count a little, knows her letters, can read a few sight words. However, she can’t quite write, button clothes, etc, because her fine motor skills are still behind.
Maura’s laundry list of things goes as follows – she has a cognitive disability, gross and fine motor skill issues, motor planning issues, apraxia, hypotonia (which causes her flexible flat feet and hyper-flexible joints), strabismus, sensory issues, and epilepsy. Her IQ was tested to be about 48, which puts her in the high end of the moderately disabled category. (It goes mild, moderate, severe .)
Basically, on paper, Maura is pretty disabled.
When we met the new neurologist when she was 8, he was surprised and stated that he didn’t expect her to be so capable after reading her file. He didn’t expect, when he called out her name, for her to follow along, say “Hi doctor!”, get the stuff I told her to get and make her way easily into the exam room. Because from the file he read, she seemed less capable.
That’s Maura. She’s a strange combination of ability and disability. She knows her mind, knows what she likes, and often times, knows what to do in certain situations. But at the same time, she can’t take care of herself independently, not yet. She can make herself a bowl of cereal, but can’t be trusted not to scald herself with hot water. She knows what she wants to wear, but can’t quite get it all on herself. She will still watch “Wonder Pets” with absolute delight, then turn around and sit through “Doctor Who”.
Maura is a girl who loves music, loves to sing and dance. She loves penguins, and fun accessories, and dolls with long arms and legs just like she has.
I think one of the plus sides of not having a diagnosis is that we don’t know what she’s capable of. So we let her try everything. Granted, she scares the crap out of me at times because she just has to do what the others are doing, even if it’s peering over the side of a cliff. But be assured, if Maura can’t do something, it’s not for lack of trying!
As for the big list of who we’ve seen and what we’ve tested for…
We’ve seen several pediatricians/ER doctors, two neurologists, a neuro-genetics doctor, a geneticist, an orthopedic surgeon, pediatric eye doctor, pediatric psychologist, and many many therapists and teachers.
We’ve tested her vitamin levels, checked for lead, checked her thyroid, had her hearing tested twice. We’ve ruled out autism (she has never had regression or loss of skills). We had a clear MRI (that’s been looked at by 3 different neurologists I might add) and several EEG’s.
Genetic testing – we’ve done a karyotype, chromosome microarray, CDKL5 sequencing (looking for atypical Rett Syndrome), MECP2 gene sequencing and deletion/duplication analysis (Rett Syndrome), Fragile X repeat testing, and a chromosome oligoarray. Between the karyotype, microarray and oligoarray, we’ve ruled out things like Angelman Syndrome, Williams Syndrome, Down Syndrome, and Phelan-McDermid Syndrome
Metabolic – we’ve done two different metabolic panels, which tested levels of acylcarnitines, other amino acids, ammonia, basic chemistries, CPK, ketones, lactate/pyruvate, liver enzymes and urine organic acids.
At this point, we’ve sort of run out of things to test for unless we want to do muscle biopsies. Which is not worth putting Maura through unless we know for certain what we’re testing for.
And that, as they say, is that.