I have been struggling with how to start this blog. The last time I tried to start a website and blog, I was much earlier on in this journey in the world of ONH and SOD. However, today I had a friend share with me that she received some scary news at her ultrasound, and I thought, maybe I will just go all the way back to the beginning! So here we go….
I was only 21 when I became pregnant with my son, RJ. I had met a boy and we married very quickly and became pregnant VERY soon after that! My pregnancy was fairly easy overall. I had some nausea and some round ligament pain, but overall it was uneventful, until about the beginning of December 2005 (I was due January 3). I went to my regular check up and the nurse practitioner who I had been seeing the entire time, recommended I go have another ultrasound done. I had no idea this was not normal and I just went with it. I went to the ultrasound and came back home. Within a day or two, I received a call that I needed to come back for another ultrasound. At this time I started realizing something was wrong. My sister was on winter break from college and offered to come with me for support. We sat there while the ultrasound tech scanned my belly, for what seemed like hours, mostly focusing on the baby’s brain. My sister and I both noticed, but the tech remained silent. She completed her scan and went to get the doctor. A doctor came in a little while later and did some more scanning in silence. He then said to me, “Your baby’s brain hasn’t developed all the way. He could be completely normal or, well, you know.”
I was left shocked and speechless. In the moment I didn’t know what to say or what to do. I went back to my regular practitioner who was much more empathetic. She informed me that she had only sent me back for an ultrasound because of the growth progress of my belly between the previous 2 appointments. She was shocked to hear the news. She said I would see the doctor from that point on. I was quickly scheduled for additional blood work, a paracentesis, and an MRI to see if we could get more definitive answers. When I say I was “all belly” during this pregnancy, I mean it! I walked out of the hospital after his birth wearing my pre-pregnancy jeans with no issue! For this reason, among others, the paracentesis was probably the scariest test I had done. I knew the risk of doing these procedures during pregnancy, especially in the last month, but I figured if I did them while I was pregnant, maybe it would get the answers we needed so that they didn’t have to do all of these things to my newborn. Unfortunately, we didn’t gain any additional answers. They did have me switch hospitals so that I would have him at a hospital with a level 3 nursery, rather than the level 2 that was closer to my home, just in case.
RJ was pretty comfy in my belly and had no interest in coming out! Now that I think back, maybe he knew all of this poking and prodding was only going to get worse on the outside! The doctor sent me to be induced a week after I was due. I went to the hospital on the 10th and had a lengthy 37.5 hour induction before he finally showed his face on Friday the 13th! They immediately took him, but he was returned to me quickly. He didn’t need to go to the NICU and we only stayed 1 extra day in the hospital. I developed pre-eclampsia after he was born so I was on some IV medication for that and he had some issues with low blood sugar and jaundice, but it was mild enough that we were able to take him home!
We were immediately set up with an endocrinologist and a neurologist. I was taking him for checkups almost daily for the first 2 weeks. The drive was about an hour each way. My mom and grandma would join me for most of the visits and we would make a day of it. I was exhausted. He was on medication for adrenal insufficiency but things seemed to be fairly normal. He was eating fine and he was in the 90th percentile, or higher, for height and weight. Before his 2 month checkup, I noticed that he didn’t seem to be tracking visually. I didn’t know much about babies, but I was good about reading all of the information given to me and I knew most of the milestones. I brought this up to his normal pediatrician who asked me what he did when he nursed. I told her he would close his eyes and she said, “well he’s just enjoying it” and that was that. Thankfully, he had the other specialists in place already and had an appointment scheduled with them soon after. They would meet us together because they worked in the same building and wanted to make less stress for me. I really appreciated both of them. I asked them about RJ’s vision and they immediately sent him to an ophthalmologist, like that day! There wasn’t a pediatric ophthalmologist on that day, but there was an adult one who was willing to see us. He diagnosed RJ with Optic Nerve Hypoplasia (if you are somewhere where they still recognize Septo Optic Dysplasia, then he has that as well). The doctor said he had no light perception, never would, and there was nothing I could do. I was by myself with RJ on this day and I just wanted to get home. I had spent all day in this medical building. I was still nursing and we had had blood work done, eyes dilated, multiple doctor visits, etc. The endocrinologist had asked that we come see her before going home, but by the time we finished, her area of the building was closed, so I drove home. She called later and had us come back to admit RJ to the hospital for low sodium. We learned he also had diabetes insipidus. While his pituitary gland appears normal on all scans, his body has hypothalamic dysfunction (the area of the brain that signals the pituitary gland to make or release hormones) and he requires many hormone replacement medications.
This is the story about how we got his diagnosis. It was an overwhelming time, to say the least. Prior to having RJ, I had always trusted doctors. They are some of the most educated and respected people on the planet. I always had a healthy family and never saw a lot of illness or death growing up. The day I went in to be induced with RJ was the first time I had ever been admitted to a hospital. Even now, I remember my mom going in for surgery when I was a teen, but other than that, no one in my household has been admitted to the hospital in my memory. I was very naïve to the medical field. I blindly trusted what everyone told me. I have learned a lot since that time! I have networked locally and internationally, I have gone to nursing school, and I have helped in getting this nonprofit started. It has been an incredible journey over the last 17 years! I look forward to this new chapter and helping other families in this journey.
I will end this first entry with this…. No matter where you are in your journey, always trust your gut and always ask questions if you’re unsure of anything! Also, if you are in a place where you are overwhelmed, I always advise to stay out of the Google Black Hole and take some time for yourself! You are not alone, no matter what you are going through!