As Ron and I waited on edge for Ari’s MRI to be over, we were mostly silent. Lost in our own thoughts, trying to breathe through it all, separated from our little infant for the first time since he had been born. I remember feeling dazed. I know I was in a state of shock and utter exhaustion. I had Ari’s bottle ready for when he was done. He was definitely going to be hungry.
We had expected to be called on the room phone when Ari was in recovery and then led downstairs. The room phone rang after about 3 hours of waiting. We were told that Ari was being brought back up to us, rather than us being led down to him. I was jittery with anticipation of having him in my arms again to comfort, kiss, feed, whatever he needed!
We heard him before we saw him.
Ari was in a frantic state crying all the way down the hall and into the room. He was being wheeled on the crib bed so we just stayed out of the way until he was in the room. The doctor immediately saw the look in my eyes and reassured me “He is hungry – don’t worry. He did great!” He picked my crying little guy up and placed him in my arms. Ari was loopy for sure as he cried hysterically. I sat down and put the bottle in his mouth. He was so grateful and stopped crying for a few gulps. He started crying again, but came back for more milk. The doctor looked satisfied that Ari was feeding and happy to be in my arms again.
The doctor told me “not too much, a little at a time” and I did my best to comply! Ari was starving – it was the longest he had gone without milk! I put him up on my shoulder to burp after a round of gulps. He had gotten through half the bottle already. He seemed confused, but stopped crying eventually and was looking about. I smothered his little head with kisses and told him how brave he was and I loved him so much! I just couldn’t nurture him enough. Everyone in the room just watched and we were all relieved that Ari was responding to the bottle, to his mama, and seemed to be recovering from the anesthesia fairly quickly. He had his fill of the bottle and then just relaxed in my arms. I honestly don’t remember if he fell asleep right away or if I lay him down in his bed. It was such a harrowing thing to see him in that state of hunger and the drug-induced out-of-it way he was looking at me and everything around him.
The EEG had been a special type that was able to to remain on Ari throughout the MRI so that the brainwaves could continue to be monitored throughout. Once the MRI was done, the technicians removed the EEG electrodes so Ari was no longer all wired up. Now that the MRI was done, we had to wait for the image results which would be compared to the EEG read out that had been gathered over the 24 hour period. We were told this would happen fairly quickly and that results would be shared later that day.
I know we rested after all that. I remember falling asleep briefly on the couch/bed/thing and being woken up when Dr. Thibert came in the room with the results. I was still half asleep and had to work hard to pay attention! This is what we had been waiting for after all! We were told that Ari did NOT have a tumor, that there was nothing inherently wrong with his brain. There was a little area, in the back of his brain, on the bottom right side that apparently did not “fold” or “unfold” correctly – a “dysplasia”. A tiny little blip that was just off and the EEG readout confirmed that the activity was originating from this tiny spot. The area was causing a lot of activity that was building up to the extent of spreading through the rest of his brain and causing the clusters of seizures to happen. The good news was there was no tumor, nothing to ‘grow’ or even get worse. We were also told that they saw another suspicious area in the center of Ari’s brain that looked to be a calcified small area or ‘tuber’. The diagnosis could be more than just a “dysplasia” based on this other finding. There was a chance that Ari could have a rare genetic disorder called Tuberous Sclerosis (TSC). Now this was a little more scary. None of us had ever heard of this disorder. It causes little tubers that are non-cancerous to grow in certain organs of the body. The tubers may interfere with function depending on where they develop. It doesn’t all happen at once and they can come at any time!
Ari was given a tentative diagnosis for Tuberous Sclerosis based on the MRI results. We were also told that he would be put on anti-seizure medication. I was already against having him be put on any steroid-based medication due to what I have read about them. Thankfully, a medication had recently be approved by the FDA for infantile spasms that did not exhibit such terrible side-effects – Vigabatrin. Based on the diagnosis, Ari would have to undergo further testing to other areas of the body that are usually effected by tubers, including an EKG (heart), an ERG (eyes), a renal ultrasound (kidneys). We were referred to the best specialist at MGH who also happened to be the founder and head of the Herscot Center for Tuberous Sclerosis at MGH, Dr. Elizabeth Thiele. Dr. Thibert worked with Dr. Thiele and we were reassured that we were in the absolute best of hands. We definitely felt secure in that knowledge and the care Ari had received so far. We were given an appointment with Dr. Thiele for the following week and were told that we could take Ari home the next day!
With all this new knowledge and the possibility of Ari having a genetic disorder that could affect him for the rest of his life, it was a relief to get home. It was also difficult to NOT Google the disorder. I read a lot of things about it, wanted to know as much as I could. The prognosis was so varied as we were told. So much depended on where the tubers grew. TSC could be super-debilitating or have no real affect on lifestyle and development whatsoever. It was a lot to wrap my head around and no solid answers were going to be available until all the tests were complete.
We now had to schedule the rest of the tests for Ari. Dr. Thiele would use a Wood’s Lamp to look at Ari’s skin since this is another place that the tubers could appear. The EKG and the renal ultrasound were scheduled to take place on the same day. We wondered if this was to be our future… trips to Boston with our baby boy and growing child for tests several times a year. This is what we would have to do if the diagnosis was TSC. We even touched upon moving back to Boston in our early – and even later – conversations. It was a tough time.
We had decided not to share any of the information about the genetic problem possibility with any of our family. It could potentially impact more people than just us and we felt it was better to wait until we had more answers. If Ari was proven to have it, it could have mutated and developed spontaneously, but it also could come from one of us. If he tested positive through a genetic test, Ron and I would both be tested. If one of us tested positive, Eli would have to be tested. There was lots to talk about and more questions to be answered.
Photo Credit – All Photos: Eli Dagostino Photography
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