Happy birthday to my sweet, brave, happy, determined, smiley, strong, lovely, and wonderful Penelope! She has filled my life with so much joy, she has taught me so much, and I love her more than I could ever say.
From the moment Penelope was born, Charlotte has been a fantastic big sister. She is patient, gentle, and loving with her little sister. She is never jealous or resentful of all the extra attention Penelope has needed. To be honest, I don’t think Charlotte even realizes that there is something different about Penelope. And don’t get me wrong, I think that is wonderful and amazing and a perfect example of how kids are naturally accepting, but I’m starting to wonder if at some point, I should sit down and talk to Charlotte about how Penelope has some special needs.
This is not something I ever planned on doing- my initial idea on how to address it with Charlotte was just to answer her questions honestly as they came up, but she doesn’t really ask many questions about Penelope. I think Charlotte just thinks that all little sisters have to go to the doctor a lot and have therapy visits and special standers and feeding tubes. And I’m happy that none of that bothers her, but I’m worried that one day, when she realizes that this isn’t the norm, it will come as a big shock to her, and she might be really upset.
I guess I just want to ease her into the knowledge that Penelope is likely going to have a very different path in life compared to her. About a week ago, Charlotte made a comment about how when Penelope is in kindergarten they will be able to play together at school. I probably should have said something then, because Penelope is most likely going to need to attend a different school that will best meet her needs, but I was caught off-guard and I knew I would start to cry if I pursued the subject at that moment. Plus, Penelope is still two years away from going to school. And yet, I don’t know if I should wait two years to talk to Charlotte about it. She seems to have a vision of her and Penelope’s future together- running around at school, playing together. This is not unlike the vision I had of the two of them before Penelope’s diagnosis, and I know how much it hurt when I realized my vision would have to change. I want to spare Charlotte that pain.
This is totally uncharted territory for me. When I became a parent, I knew that there would be uncomfortable conversations with my kids one day, but there are tons of resources to help you talk to your kids about stuff like sex. Talking to your child about her sister’s special needs? Not so much.
What would you do? I know this isn’t something that needs to be dealt with urgently, but it has been rattling around in my head lately, and it would be nice to come up with some sort of plan on how to address this. For now, I think I will continue to take my cues from Charlotte, and answer any questions she may ask. I just hope I am taking the right approach.
It’s been over eighteen months, but I can still remember every detail of the day we received Penelope’s diagnosis. It was a cold day in early December. I was wearing a black tunic and leggings (this was basically my post-partum uniform). I went into the appointment feeling fairly certain that we were about to be told there was no genetic cause for her microcephaly. As we got settled into the meeting room with the doctor, Penelope began to fuss a bit, so I started nursing her. And as I held her little body in my arms, I heard the words that changed our lives: “The test results have shown that Penelope has a chromosomal deletion, and unfortunately, it is a large one, with many genes affected.”
There was a loud ringing in my ears and a lump in my throat as I tried to process that. I felt disoriented and the tears began falling freely. I was shocked, overwhelmed, and devastated. And when we were told that she was likely the only known case with this particular deletion, the feelings of isolation set in.
A rare chromosome deletion is a very lonely diagnosis. There aren’t multiple networks of information and support like there are for parents of kids with Down’s Syndrome or cerebral palsy. There are no “10q23.31-24.2 deletion” fundraising runs. There is just you and your child and a lot of fear and anxiety about the future. There is no prognosis, because no one has ever seen this condition before. There is a lot of being told, “We just have to wait and see how she does.” I now detest that phrase. I want answers, dammit! WIth a rare chromosome deletion, however, answers are not readily available. But chromosome disorders as a whole are actually not all that rare- did you know that approximately 1 in 200 babies will be born with some kind of chromosome abnormality? Sometimes the abnormalities aren’t picked up until adulthood and sometimes they have no known clinical significance. And other times, like in Penelope’s case, the physical manifestations of the abnormality are present from birth.
June 7-13th is Rare Chromosome Disorder Awareness week. If you want more information on rare chromosome disorders, there is an organization called Unique that is a great resource- check it out. And share this post- I want other parents who have a child with a rare chromosome disorder to know that they are not alone. WE are not alone and we can support one another.
SHE DID IT! SHE CAN CRAWL!! I officially have a little mover on my hands. What she lacks in speed and agility, she makes up for in sheer determination. If she sees something she wants, she goes for it. She may topple over a few times; it may take her awhile to get to where she wants to go, but she WILL get there. And she doesn’t get frustrated- she just keeps reaching and wiggling and smiling and squealing until she reaches her goal.
I can’t tell you how happy this makes me. If I had the resources to do it, I would throw a parade in her honour. There were times when I honestly didn’t think this would ever happen- like when she was over a year old and still couldn’t sit up on her own. And her newfound mobility has given me so much hope for her future; hope that someday, she may at least have a quasi-independent life. Obviously, there is still a lot we don’t know about what her abilities will be or what problems she will face in the future, but this accomplishment of hers has quieted my fears and worries for the moment.
I am just so proud of my girl. Watching her as she learned to move has taught me that with enough time, perseverance, patience, and love, anything is possible. I am now reflecting on what dreams and goals I have for myself- dreams that I previously dismissed as unrealistic or impractical don’t seem quite so out of reach anymore. Maybe I can go back to school and further my education one day. Maybe I can get serious about my writing and work toward getting published one day. Maybe these things don’t have to be mere fantasies. If Penelope, despite her physical limitations, can get herself moving, then so can I. I will just have to keep reaching as I inch toward my goal.
I hope everyone can take a page out of Penelope’s book. Don’t give up. Reach for what you want. Pick yourself up when you stumble. Even if your progress is slow and awkward, keep moving forward until your goal is met. And don’t forget to beam with pride at your accomplishment when you are done.
As most of you know, last week was March Break. Mark and Charlotte enjoyed a full nine days away from school…and I worked seven out of those nine days. But that’s okay- I worked the day shift for the most part, so I didn’t turn into the zombie I usually become when I work a lot of evening shifts. And I still got to take Charlotte to Frozen on Ice, which was a lot of fun.
Charlotte and Mark did some fun stuff like taking in a classic Disney movie, The Rescuers, at the TIFF Lightbox downtown. And they saw a live performance of Pinnochio, visited with friends, and generally had a fun and relaxing March Break.
Charlotte, Mark, and I aren’t the only ones who have been busy lately. Penelope has been working hard on her mobility! She is super close to crawling, and it is amazing to watch (part of the reason I haven’t written much in the past week or so is because I have been standing over her with a camera, waiting to capture that moment when she first crawls on film. Which probably isn’t helping her to do it any faster). Check it out:
Amazing, huh? After getting the results of that last swallow study, this has filled me with so much hope for her future. I am so proud of my determined little girl.
It has been just about a year since Penelope had her first swallow study done, where we discovered the extent of her swallowing difficulties and subsequently had the feeding tube inserted. Over this past year, she has made a lot of strides. I had been working with her on her oral feeding- giving her purees, cereals, yogurt, etc, to taste, in the hopes that her swallowing would improve and she could start taking more and more by mouth. These feeding sessions were very hit-or-miss. Some days, she would be very interested in eating, and would take everything I offered her. Other days, she would gag or choke and vomit after only a bite, and I would have to stop the session. The feeding team following her wanted another swallow study to be done to see what progress she has made with her swallowing. This was done on Monday, and the results were not good.
Penelope can no longer swallow food with even the thickest consistency. She aspirates everything she tries to swallow. Even more troubling, she doesn’t have a protective cough reflex- she aspirates her food, and there are no outward signs that this has happened. She will appear happy and want more food, which will then go into her lungs instead of her stomach. And so we have now been given instructions that she is not to have anything by mouth- in medical terms, she is NPO.
To say I was shocked by this is an understatement. I was fully expecting the study to show an improvement in her swallowing, especially given how many other improvements she has been making. I’m worried that this swallowing regression is a precursor to regressions in other areas. It’s also really hard not to feel like this is my fault, somehow. Should I have been giving her more food to improve her swallowing? Less food? Could this regression have been avoided? And then of course there is the worry about the fact that she has been silently aspirating on an ongoing basis- what if her lungs are damaged? It is a miracle that she hasn’t contracted aspiration pneumonia. I am taking her to her pediatrician next week, and hopefully he can address these concerns with me.
Clearly, it has been a rough couple days around here. I am trying hard to stay positive and focus on the good: Penelope gets enough nutrition from the G-tube, so being NPO isn’t really a big deal to her. She didn’t contract aspiration pneumonia. The living room ceiling didn’t collapse. Penelope is happy and has made progress in other areas. I know all of this, and I am thankful for it. But I am still reeling from this unexpected blow, and I think it’s going to take a few days to get my balance back.
Well, I have to say, I am feeling a lot better about Penelope’s future with special education. I mean, I’m still not loving the idea of her and Charlotte going to separate schools, but I know that we will find the best solution to fit Penelope’s needs. And I am shelving my anxieties about Penelope’s future in general, because the thing is, she’s happy. Like, really, really happy almost all the time. And that’s all that really matters to me. I want her to be happy. And she is. So why I am stressing out about things that I mostly have no control over and are literally years away from happening? I’m just going to enjoy her for who she is- and she is wonderful.