It hasn’t been the easiest week. In fact, if I don’t think too hard about the circumstances of late October 2013 I might convince myself that this was pretty close to my worst week ever. This week we got a definitive diagnosis for Avery. From the beginning Arick and I never let ourselves truly believe that something could end up being wrong with our son. Through everything we supported each other with “He’ll be fine, look how far he’s come.” Or “He’s good, don’t think like that.” Because of this, when things began to look like they actually could be wrong, we started losing our hope and feeling defeated. The truth is that nothing could prepare us for the devastation of his diagnosis. No positive thoughts or belief in his strenghth could change it.
Avery saw the neurologist for the first time last month after his optometrist thought his crossed eyes should be further evaluated. Dr. Clark sent him for an MRI because he wanted to see just what parts of his brain were damaged and how severely. I walked into that first appointment believing that all of his obstacles were due to prematurity. Premature birth is deadly for so many reasons. An immature gut often leads to NEC, a devastating and sometimes lethal diagnosis. Lungs that aren’t ready to breathe give out. Brains not ready to be exposed to oxygen and pressure changes outside of the womb develop bleeds and can lead to brain damage. Damage to the delicate nervous system can result in cerebral palsy. For all we knew, this was what happened to Avery.
It wasn’t that simple, though. When the doctor came in he began looking at Avery systematically, as a whole, and not just in relation to his cerebral palsy. He noticed that he moved his eyes separately and slowly, not in the regular fluid motion in which they should move. After assessing him completely he decided to MRI his brain as soon as possible because he had several indicators of something called Joubert Syndrome. When I left the office I was truly speechless. I started researching and quickly decided there was no way he had this syndrome. Sure, he had a few symptoms but nothing that I felt like couldn’t be attributed to something else entirely. Ultimately, we had our MRI and I trusted that when Dr. Clark called with the results, he’d mention his subarachnoid bleed from the NICU and, hopefully, find it absorbed.
Time stood still when my phone rang last Monday. Avery was on the bed playing with his stuffed Hulk. I was wearing my rattiest Texans t-shirt, a spot of orange from Avery’s sweet potato lunch on the left shoulder. Abby was in Arick’s recliner in the living room watching Spongebob. I know because when my world went silent it was the theme song that snapped me back into reality. “Mrs. Hartman, we found something concerning on your son’s MRI. This is really the reason that we do this. I’d have never been able to guess we’d find this. We see a brain malformation called *insert long name I’d never heard before even with several medical terminology classes and being a medical parent*. I heard poly and micro and I knew those root words. It was the “gyria” that was throwing me off. He laid it out to me, patiently, three times. He described what the surface of the brain should look like and explained that Avery’s brain had an excessive amount of small folds on the right side. In addition he saw evidence of small underdeveloped optic nerves. Combined, this almost certainly indicates a genetic disorder. This again? I’d just decided that there was no way, no possible way, that my son had one.
The devastation of this diagnosis lays mostly in the fact that Avery would still be who he is if he was born on time. I say devastation only because at times we see our child suffer, and no parent ever wants to see that. This was present at birth and happened very early in pregnancy. Next week we will have the very expensive (paid for out of our own pocket, I’ve just learned today) genetic testing that will tell us whether or not this is something caused by a gene that both Arick and I carry and passed along to him or if it could have been due to an infection during pregnancy. His neurologist believes that it is genetic and there are several syndromes he could be diagnosed with. I think either way we’d want to know but because it could be genetic we NEED to know. This would rule out having more children for us because there would always be the chance that the genes could divide the same way again and we’d have another child with polymicrogyria.
We know now what we’ve needed to know for so long. This isn’t a death sentence for Avery but it isn’t a passive diagnosis. Over the last week I’ve reached out and met many people who have polymicrogyria. Some children, babies like Avery and a few adults. In some people it is mild enough that they go through their entire lives without knowing. Some will have symptoms such as CP, developmental delays and intellectual disabilities. Realistically, it is the seizures that are cause for concern. We don’t know that Avery is having seizures but for several months now I’ve noticed him “spacing out” for 30+ seconds maybe once or twice a week. He’ll just seem to be staring at something intensely. At his age it’s difficult to tell but both of his therapists have witnessed it and both thought it resembled a seizure. People with polymicrogyria often develop debilitating and uncontrollable seizures. The good news with all this is, as always, that Avery seems good. He’s learning things slowly and becoming mobile. I see things in him on a regular basis that let me know that he’s “home.” He laughs at things that are funny and has clear preferences. He recognizes his own name and who Momma and Daddy and Abby are. He’s figuring out how to actively play with toys that must be manipulated. I’m seeing unquestionable intellectual growth.
We are hopeful that his case is mild and that he will get to lead as normal a life as possible. If he can’t we certainly won’t love him any less than we already do. I can’t tell you how much we’ve learned and grown in the 16 months that we’ve been his parents. I could say it a million times- God knew what he was doing when he gave us such a special child. We needed him as much as he needed us.
So thank you for praying for our sweet boy and keeping us in your thoughts through this difficult time. I know there will be more difficulty, more tears and more joy to come and the support of loving friends and family is invaluable. We love you!