Pediatric Neurologist

In late April, we went to see the pediatric neurologist. I was honestly thinking it would be a huge waste of time, since she seems to be meeting all of her other developmental milestones (other than growth and eating) with no problems. So, I figured the neurologist would simply give his blessing that there was nothing to worry about with her.

I am happy to say that I was wrong about the appointment being a waste of time. He was the most helpful doctor we've seen yet regarding Elli's condition. It turns out that he works in the department of neurology and opthalmology at the local university, so he was familiar with aniridia. He printed out a HUGE packet of information related to aniridia for me. Some of that information I already knew, but much of it was new to me, and was information that I had never found in my internet searches.

Many times, I find that specialists are, well, condescending. He was not - he actually treated me like an equal that deserved at much information about Elli's condition as I could possibly get, which was wonderful!

I knew that aniridia can exist in an isolated form (where the eye condition is the only condition present), and I also knew that it can come along with a whole host of issues, including the Wilms Tumors that we have her screened for by ultrasound every 3 months. I did not know that the host of conditions that can accompany aniridia can include central nervous system issues, which can include growth disturbances, oral motor dyspraxia (hence the fact that she does not yet swallow food or drink, even though she's over 1 year old), and a bunch of other things.

Because aniridia can affect the central nervous system, the neurologist wanted to have an MRI of Elli's brain done, so that he can get a look "in there" to see whether everything is as it should be. He said he doesn't expect to find anything abnormal, since she is doing so well at meeting her milestones, but he wanted to have a baseline anyway.

We had the MRI in the middle of May, and it was pretty miserable procedure. Actually, the MRI itself was fine - they put Elli under for it, since you have to lie still. However, getting the IV in for the anesthesia was awful - it took 4 tries by 3 different nurses to finally get it done, and by then, she was screaming worse than I have ever heard her scream. Doug and I both agreed that if it hadn't happened by then, they were going to need to sedate us!!

We don't have the results of the MRI yet. The neurologist should have had it a few weeks ago, so I called this past week to see if they could give me the results, but I did not receive a call in return. We have a follow-up appointment in July, so hopefully we'll get the results sometime between now and then.

Apparently there are something like 280 different mutations that can cause aniridia, and if they can discover which mutation/deletion Elli has, they likely will be able to determine whether she's truly at risk for Wilms, whether she truly has a growth disturbance (or whether she's just not getting enough calories, since she is ALWAYS moving, but doesn't eat food), etc. As such, the neurologist also wants Elli to have some genetic testing done. He said that he would also want us to see a genetic counselor to determine whether we are at greater risk to have another child with aniridia.

Unfortunately, our insurance company has turned down the request for genetic testing. So, we now have to figure out how to fight the insurance company, and if we end up losing, we have to find out how much the genetic testing costs and whether we can afford to do it.

Overall, I was encouraged by the neurologist, and by the fact that I received so much helpful information. Although some of it wasn't great news, I felt armed for the long haul, and I felt that I had a specialist in Elli's corner for the first time.