New developments in the realm of my little Avery. Yesterday was to be a day of “routine” checkups, routine meaning based on what we know about Avery and not expecting anything new to occur.
But occur something new did.
We visited the Cleft Palate folks at Children’s and talked about the surgery which was recommended to take place closer to a year of age due to all of her other issues, and we wouldn’t need to see them again until a few weeks before surgery. So that was checked off.
Then we went over to ENT to see how her ears were holding up, and besides narrow ear canals that needed to be cleaned, her ear drums were moving properly so no indication of fluid behind there. They also did a swallow analysis by putting a camera down her nose and had me feed her, and she actually only fussed while it was being put in place then proceeded to drink without issue or complaint. She has an inefficient suck/swallow coordination, but has adapted well so no other tests were required, as well as no follow-up unless I requested one. So that was checked off.
Then we went downstairs and had the poor baby’s blood drawn so Genetics could evaluate whether she has a syndrome or some other underlying cause behind all of these mischances. Again, she cried like mad while they were sticking her (which took two tries) but once the needle was in she was ok. Like.. while it was still in. Strange strange baby. So that was taken care of and by this time Avery was incredibly exhausted and could care less where I set her as long as she was allowed to sleep.
We packed up and went a couple blocks away to the hospital where I delivered her for their NICU Follow-up program. She was so tired that the evaluation they had originally planned for her became a discussion of my observations instead.
Early into the discussion I mentioned that she had just had her blood drawn for Genetics. The doctor, who I had failed to look at before (was staring at Avery instead) but upon looking up at her immediately recognized as the doctor who had shared the calcification as well as CMV-negative and never-mind-about-the-calcifications news, and who looked somewhat dismayed to see me, asked why Genetics wanted bloodwork done. I told her they wanted to look for a syndrome and she said, “we did that.” I had had no idea that they had tested already and she disappeared to go find the results. Granted, the results took a while to come back so we wouldn’t have gotten back the results while still in the hospital, so I guess it’s understandable it was left unreported…
She was gone for a very very long time. I know the visit started at roughly 1pm and we didn’t leave there until after 3pm, so I’m guessing she was gone for around 45 min or so. The nurse practitioner carried on the oral evaluation without her and we assessed that Avery seemed pretty normal and on track based on my observations and what I could report from her specialists’ and therapists’ evaluations.
Finally the doctor returned. She explained that she had the lab results but wanted to provide literature to me at the same time and never wanted to have a repeat of walking into the room with results and no answers as she did to me with the ultrasound results showing brain calcification. I told her that I didn’t blame her for not showing us images at that time, because when I did finally see them and then started googling it, Avery’s was bad. Bad bad. Like most of her brain, bad. So yeah, the doc was pretty wary of giving me more bad news without a whole lot of answers behind it. So she had educated herself thoroughly before returning.
Avery has Trisomy 8 Mosaicism. Or Mosaic Trisomy 8 syndrome, or T8M. However you want to research it, it basically means that some of her cells have an extra 8 chromosome. The best resource I’ve found so far is rarechromo.org.
So this is very rare and has a wide array of outcomes. There very well may be a great deal of people with it with no outward signs at all, who never discover it. There are those who discovered it later in life when trying to identify issues, but who had no developmental problems or any of the common symptoms.
But there are also those who have severe disabilities because of it. Everything from developmental or speech delays and physical deformities to mental retardation or a higher chance of developing leukemia. I’m seriously praying that she was only affected in her skin and outward signs, and not in her bone marrow or brain.
Several of Avery’s unique marks are now recognizable trademarks of this syndrome. She has the cleft palate, difficulty feeding, deep creases on the bottoms of her feet, a sacral dimple and potentially tethered cord, probably has issues with her hip joints, and was delayed in her primitive reflexes and a little late on some milestones (like social smiling).
Upon being told about this diagnosis I could feel myself beginning to panic. I didn’t want to relive the calcification/CMV nightmare. I didn’t want to be told that I was going to lose my precious baby at 8 years of age. She talked as quickly as she could to give me as much information at once as possible. That if it had been full Trisomy 8 it would have been fatal and she never would have been born, so Mosaicism is always better because not all of the cells are affected. And if it had been a different Trisomy she might have had a shortened lifespan, but it seems T8M typically has a normal lifespan. It’s not hereditary, it appears to be a fluke, spontaneous and uncertain as to why it happens. She read to me that there are lots of people who seem to be fine who have it, such as a college professor. She could be a college professor.
Once I was able to look up again and was a little more focused we had a lot of deep discussions. She and I, while being silently observed by the practitioner, and with a tiny sleeping baby snuggled on my chest, shared. I told her about my sister-in-law who had lost a baby at 22 weeks because of a genetic disorder, and how odd it was that mine was born with one. I asked if it was common, and she sighed a big sigh and said that no it wasn’t. But that she too had had 3 miscarriages, one in the second trimester due to a genetic disorder. She had lost her third baby at the same time the adoption she was planning fell through, and it was the worst Christmas she’d ever had.
I said told her it was still better than brain calcification and she told me how much she had hated telling me that. One of her peers had ordered the ultrasound and she was the one who saw the results and had to tell us. She said it was terrible having to tell us the results without having any answers. But then she relived the moment she saw the CT scan. She had been so mad at the neurological examiner when he had said, “well do you see any calcification?” as if she were crazy. She had been floored by the disappearance of it. The nurse practitioner who hadn’t made a noise during this whole time asked quietly, “what happened?” and the doctor fumbled for the words, saying “oh they said it was..” and she couldn’t think of the word, and I chimed in, “artifact.” She confirmed, “yes, that’s right, that’s the word.” I spoke into my baby’s soft hair and said, “I think that she is a miracle baby,” and the doctor said very matter-of-factly, “me too.”
So here we are.
I just keep living on this rollercoaster of emotions. One minute I feel so blessed to have a mostly-healthy baby who seems to be progressing normally and has physical issues that are correctable. Then another moment I can’t hold back the tears and I just want to feel sorry for her, and for myself. I remind myself that it’s not down syndrome, it’s not cancer, it’s not CMV or a calcified brain. The doctor said she had to tell another mother that her baby had CMV.. and the mother was HIV positive. That poor family. I have one perfect child (at least according to my motherly biased evaluation), and one child who may have every chance to be completely healthy and normal once some issues are corrected and this will one day all be a distant memory. Or maybe it will be a life changing experience that we will endure with God’s help for the rest of our lives. Who knows. I do know that God is going to provide the strength we need, for whatever may come, but sometimes I just want to cry anyway. I want to be strong and an example of giving over my burdens to God, and at the same time I want to talk about it and let down my guard and be emotionally distressed over my precious baby.
The doctor recommended I get a complete copy of Avery’s medical records from the hospital, that way I would have it to share with Children’s and so last night I stayed up late reading through it. It was really interesting to read, from the doctors’ perspectives, the evaluation of Avery over the course of those 10 days, as they observed things they wanted to evaluate further, and their notes on her progress. It matched everything I remembered and wrote about, but also had a few additional bits of information that I hadn’t been aware they were concerned about. I also read through the T8M information and finally managed to fall asleep, but then woke up really early this morning. And today I’m not doing very well at actually working.. I would rather read and write than work. What I really want is to find someone else going through this and just spill my guts to them. I reached out to the group that runs rarechromo.org in the hopes that I’ll have a support group through them, but it would be so neat to see a family with a child who started off much like Avery and just share stories.
I’ve already decided that I don’t want to tell Avery about this until she’s in her 20’s, maybe, so that she can never use it as a crutch or feel sorry for herself. I’ll keep all the feeling-sorry-for-her for myself. But who knows, it may come up at some point anyway.
My constant prayer has been for me to be Hanna – I want God to let me keep her here, but I want to give her over to God. Let her be a little blessing and light in this world. Let her plant many seeds for Him.
While still in the hospital I wrote her lullaby which doubles as my ongoing prayer for her:
My little Avery
Just so small and sweet
You are so dear to me
My little Avery
You will overcome
All that was undone
And may the Lord be true
And bring new faith through you