This is the fourth installment of the story of our journey with Maura…
At this point, you may be wondering “Gee, did you take her to a doctor?”
The short answer is “Duh.”
The longer answer is this –
My husband at the time was self-employed. Which means we had that special self-employed insurance. You know, the kind you pay hundreds of dollars a month for but didn’t cover pesky things like “lab work”?
Lab work as in the karyotype. Which, fyi, if you’re paying for out of pocket, will run you $1200.
So we were being slightly more cautious with who we went to see. We decided our best option was a developmental pediatrician, with the hopes that this type of doctor could steer us in the right direction, whether that be geneticist or neurologist. Our pediatrician sent the referral to the Behavior and Developmental Clinic at U of M. Two to three weeks later, a woman called from the department. She explained that Maura’s file would be reviewed by the doctors and they’d decide which doctor would be best to see her. She asked what my biggest concern was at that time. I answered “Well, she’s almost 20 months old and isn’t walking yet.” She took note of that.
Four months after the referral, I finally took Maura to the appointment – which was one week after she’d started walking.
It turns out that when they reviewed Maura’s file, they read “20 months, not talking” and decided to send us for an autism evaluation. I didn’t quite get this, new to the game that I was. We went to see the nice pediatric psychologist, who did a bit of an evaluation on Maura (the Early Intervention director did a more in depth one honestly) and asked a few questions. When did she start smiling? How was she with her siblings? When did she start walking? That one was easy, it was one week before, and I told her this proudly.
When she eyed Maura, who was walking about wobbly, and said “You know, for as long as she’s been walking, she should be more stable on her feet.”, I began to get a bad feeling about the appointment. I also wondered which part of “One Week” she didn’t get. I should have said that. But in those days, I was nicer.
At the end of our appointment, the doctor looked at me, with a big smile on her face and announced cheerily the words that I assumed she thought I was desperate to hear – “Well, she’s not autistic!”
I looked at her dumbfounded and said “Well I know that. What does she have?”
The doctor’s face dropped a bit. “Oh, I’m not sure. You’ll need to see a developmental pediatrician for that.”
I refrained from banging my head against the wall. I may have muttered when I paid the receptionist the $250 for the appointment that my insurance wouldn’t cover because it didn’t cover “mental health issues”.
This is where you may say “But Phoebe, surely there was a state program that could help you out!” And there was in Michigan. Children’s Special Health Care, a type of Medicaid for children with special needs. All you needed was a qualifying diagnosis. Maura didn’t have the right terminology behind her name I found out, when talking to a very nice representative of said special health care program. She said “Well, if you could get a diagnosis for her, then she could qualify.”
I replied to her “Yes, but we can’t afford to find a diagnosis without it.”
She agreed that this was a problem.
So many of us which children like Maura go through this. We need to see doctors – lots of doctors. We need to see specialists – very expensive specialists. We need to run tests. Blood tests, chromosome tests, urine tests. They can run twenty, thirty, forty tests at once sometimes. And that costs money. These kids need therapies, which cost money out of pocket because they don’t have a handy label stating “This is necessary.”. They need eyeglasses and shoe inserts or orthotics. Which may only be partially covered – if you’re lucky.
People on the outside don’t get it. You have to plan, you have to do research, and decide which path is worth the risk, worth investing in, which will give you the biggest payoff. You don’t have the option of following every trail, so you pause to think and then choose as wisely as possible.
We had made the wrong choice.
Luckily, Josh had changed jobs, so we had insurance that actually covered some stuff. Over the course of the next two years, we saw a geneticist, neurologist, ophthalmologist, audiologist and orthotics. The older Maura got, the more her issues became apparent.
The audiologist (who we saw twice, to be sure) proved that Maura’s hearing was fine. Which I did know, but we had to rule out potential hearing issues that could be the root of her lack of speech. The orthotics specialist was seen after pressuring the physical therapist Maura was seeing, into realizing that Maura walked oddly – her feet rolled inwards, and it was as if she was walking on her insteps. Soon Maura was fitted with AFO’s – Ankle Foot Orthotics. Sure, they made her run like Forest Gump, but she could now run. She went from babystepping everywhere to wandering off in a store before we realized it (she went to hang out with the Geek Squad at Best Buy.)
Our visit to the ophthalmologist was interesting. We went to him because one night, as I was going through Maura’s pictures on the computer, I realized that her one eye crossed way inwards. Once I noticed it, I couldn’t un-notice it. I looked it up, read about strabismus, what the options were. I made the appointment, prepared to hear that Maura would need corrective eye surgery. Instead, I heard that she pseudo-strabismus – meaning the epicanthal folds around her eyes just made it appear her eyes were crossed. I was gobsmacked. I had gone two steps ahead and was prepared for surgery or prisms or patches – not “her eyes are fine.”
I looked at him and said “Are you sure?”
As he looked down to say yes, Maura must have done something weird with her eyes, because he grabbed a tool and looked back in her eyes, then frowned and said “You know, I’m not sure. Come back in six months.”
For the next six months, I watched her turn her eyes in intermittently as they got worse. It got to the point that strangers would asked if she was cross-eyed. I’d say “No, apparently not.” You know, to watch their jaws drop. What can I say? Having a special needs child warps your sense of humor.
The night before the appointment, I took pictures of Maura’s eyes as they crossed, sent them to the 1 hour photo place at Target, and picked them up on our way to the appointment. I had six photos to show the doctor, all “proof” to me that her eyes crossed.
He laid out three photos. “See these? Classic pseudo-strabismus.”
He laid out the other three photos. “See these? Classic strabismus.”
She had both types. That’s my girl. We left with a prescription for glasses.
We saw the geneticist, who ran all sorts of specific chromosome tests as well as a microarray. I remember impressing him with my vast knowledge of disorders as he asked me random questions – I’d spent hours upon hours online looking up Maura’s symptoms in hopes of figuring her out. So when he started asking about regression, I said “I know where you’re going with this.” He said “Oh? What do you think I’m asking about?” I said Rett Syndrome. I was right. We both agreed that we didn’t think she had that, but ran the test anyway – because at that point, I learned that if we’re going to draw blood on Maura, we might as well run as many tests as possible to make it worth our while.
The geneticist brought no answers, though reassured us that no answers were also good, because we’d ruled out all the things with scary medical issues. Better to have no answers than one with tragic results. Eventually we got the “Well, come back in two years, maybe something new will pop up.”
Meanwhile, we were also seeing a neurologist, who did his thing, and ordered some metabolic tests. This lead to a very frustrating day at the hospital lab, having to explain that no, my child isn’t potty trained, no, she can’t pee in a cup on demand, before they finally bagged her and I sat around for an hour with four kids in a waiting room for Maura to fill said bag. The tests came back normal.
When we went back for the next appointment with the neurologist, Josh came along with me. The doctor went over results, what are next options were (MRI) and all. I remember Maura playing with blocks oddly enough. Josh, who is the kind of guy not afraid to ask the tough questions, asked this one – “Do you think she has something?”
Mind you – up until this point, everyone we had seen would be optimistic. “She might catch up…” was the theme song.
This doctor was more blunt – in a good way. I will never forget his words. “Oh! She’s got something, that’s for certain. What it is though, you may never know.” Then explained how kids like Maura – who have delays, but no regression, no major health issues – well, they’re just not that sexy to medical researchers. One child like Maura isn’t as interesting as 100 kids with autism. So they’re going to research autism. Or ADHD. Or Down Syndrome. Or whatever is the hot topic of the medical day.
Children like Maura, who have issues but are in good health, just aren’t that interesting to them. There’s no funding for them.
But this doctor was interested in Maura’s well-being, and was willing to be honest and upfront with us. Sure, the news could have been depressing, but in a way, it was actually a relief. We weren’t crazy, there was definitely something going on with Maura. And it wasn’t our fault that we couldn’t figure out what that was. We were doing all the right things – medical science just had to catch up to us.
We ran an MRI to rule out any abnormalities that might cause her delays. I was certain they’d find sunshine, rainbows and daisies in her head. What they found was a very normal looking brain. The neurologist told us how at this point, there were no good avenues left for us without getting really invasive (like muscle biopsies), but that would be Russian Roulette basically. He stated how he didn’t want to waste our time or money, so we didn’t need to keep coming back every few months, we could come back in two years. He did state however that if anything came up, to not hesitate to call him.
So after two years of tests and doctors, we hit our dead end. We’d have to wait it out for a bit.
Turns out “a bit” was actually just three months later, when Maura had her first tonic-clonic seizure.
Maura likes to keep us on our toes like that.