Our little family has an awful lot to be thankful for lately. I’d love to share with you some of the many ways in which we continue to be surprised and delighted by the hidden joys of raising a child with a significant disability.
The last couple of months have brought so many joyous opportunities, encounters, and gifts our way. Through these, we are learning to slow down, focus on the present, and celebrate what each day brings. Mira is progressing in more ways than we could have imagined, and we are beyond proud of how hard she works every day, always with a smile (and sometimes with borderline psychotic laughter).
I may have touched on this before, but one of the most surprising and profound aspects of raising Mira so far has been our immediate and intense bonds with other special needs families. Regardless of the child’s disability, special needs families innately understand one another and the struggles and triumphs that are part of the gig. But when families whose children share the same extremely rare genetic condition get together…WHOA.
Last month, we got to have another GNAO1 family over for dinner while they were in town from Arizona. There are other GNAO1 families in the KC metro area, but we just haven’t had a chance to connect in person yet. So we jumped at the opportunity to get to meet this family on their stop through our fair city, and let me tell ya…life changing. (And sorry to the parents in question if you’re reading this and are totally disturbed by how much we’re fawning over you…but James already sent you the world’s sappiest message, so I think you have a rough understanding of our affection for you.) Getting to see Mira and their daughter, age 4, in the same room playing together was intense and incredible. Their daughter is doing tremendously well and we were so encouraged by her progress and the testimony of her parents regarding which therapies and tools were most successful for them (spoiler alert: Mira will start therapeutic horseback riding this fall or early next Spring!). Their daughter is so gorgeous and sweet and funny that she makes Mira look like a freaking devil monster. Seriously. And if it wasn’t already enough to connect face to face with another family sharing our exact journey, we also genuinely liked these people! A lot! And really wish they didn’t live so far away so we could hang out with them! AND…they are super generous! They kindly sent us their daughter’s old UpSee which she had outgrown, so now Mira and I can practice walking without the $500 price tag. They also lent us a special vest and bodysuit called a DMO (wearable orthotics, basically) to try out with Mira and see if they might be helpful to her. This package of all packages also came with a rudimentary communication system to try, and a beautiful hand-written note…that was totally destroyed because the package arrived in a terrible rainstorm and we weren’t home so we have no idea what it said. But we’re 99.9% sure it said “WE LOVE YOU.”
Using the new UpSee at the lake! Practice makes perfect!
And speaking of glorious gifts…can we talk about the new wheelchair??? OMG it’s so amazing! Thank you, thank you, THANK YOU to all who lovingly donated to Mira so she could obtain this incredible piece of equipment. It has already made our lives so much easier, and she has access to so much more than she ever has. As a bonus, she seems to really enjoy being in it, and even requests it pretty often! One of her favorite things to do is hold my hand while walking so I’m right beside her. We crash into things…a lot…but she likes that, too. Who would have thought we’d be so happy to have a wheelchair for our 21-month-old? Life sure is crazy.
Getting fitted for her sweet new ride and going on our first walk using it.
Another weird and wonderful new addition is our handicap tags. While we don’t have a lift van yet, finding room in a traditional parking space to pull up Mira’s big new chair on the side of the car to get her into it was really challenging. I felt kind of guilty applying for a tag at first because the wheelchair is pretty much just a big, fancy stroller, but you know what? Screw it. It helps so much to have that extra bit of space and not worry about opening our doors too wide or scratching the vehicle next to us. Also, I get really stressed out when people wait for a parking space, so being able to park in spaces that far fewer people are waiting for gives us the freedom to slow down and deal with her equipment properly, rather than rushing to get it all put away safely. Also, it keeps me from cursing loudly and sweating profusely, and given how often I do those things anyway, it’s nice to get a break once in awhile.
A more abstract gift is that of others’ devotion to GNAO1 research. A member of our small GNAO1 community and her husband have established a nonprofit, The Bow Foundation (https://gnao1.org/), which “is dedicated to supporting GNAO1 families through enhanced research and increased awareness…working to fund cutting edge research to benefit those with GNAO1 disabilities and other similar rare diseases and neurological conditions.” Through their incredible perseverance and dedication, they have secured the opportunity for a scientific panel discussion about GNAO1 research at a national neurology conference in Washington, D.C., this November. Additionally, researchers at Michigan State University are very close to determining better drug treatment options for GNAO1 patients based on whether they present with early infantile epileptiform encephalopathy (EIEE17) or Neurodevelopmental Disorder with Involuntary Movements, or NEDIM (what Mira has). This is just too exciting to even begin to describe! Go, science, go!!!
And this last little note isn’t so much a gift (but maybe it kinda is?) so much as an update, but we are now back to an umbrella diagnosis of Cerebral Palsy, attributable to a GNAO1 defect. We’ve consulted with Mira’s pediatrician about it and he’s hopeful, as are we, that having CP as her primary diagnosis will open more doors to her for needed services and supports. So you may hear us tell strangers she has CP if they ask, or you may hear us (me) continue to delve into a lengthy, unsolicited, and often emotional explanation of her specific genetic mutation. Please just bear with us as we figure out the terminology we’re most comfortable with, and thank you for being on this roller coaster with us!
So now for the really fun part: Things Mira Does Now
*She eats better! We are still almost positive she’ll be getting a feeding tube by the end of the summer as a safety precaution (don’t even get me started on my mixed emotions about this huge decision), but she will continue to eat and drink as much as possible orally. Her team at school reports that she is making excellent progress with traditional feeding therapies, and we’ve definitely seen some big changes at home! She is holding her bottle better, opening her hands and really working to bring it to her mouth. She still can’t quite hold it independently, but she LOVES trying and receiving praise for her continued effort. She’s also been taking more and more liquid out of a transition cup, moving away from using a baby bottle with a nipple. The next step is straw training, and while we initially thought there was no way she could get there, we’re seeing more and more signs that she could very well be using a straw in the future! And speaking of cups…good lord that girl loves cups. I would say if there’s one thing she likes more than pretty much anything in the world, it’s getting to take sips of whatever we’re drinking (except booze) out of a “grownup” cup. And she’s actually getting pretty dang good at it! Now if we can just kick her coffee habit…. She’s also eating a lot more and doing well with slightly chunkier textures. She loves seeing us blend up meals for her, and we love that she gets to eat what we’re eating, just in a different form.
*She destroys things for fun. Man does she love destroying things. Knocking down towers of blocks, slamming around baby dolls, clearing her desk with a malicious swipe of her arm…I even have an e-mail from her occupational therapist saying, “She really does love to destroy stuff”. I’m not making this up. We’ve also been told in an official team meeting that “she has kind of a dark sense of humor”…and we dig that. I mean she can’t ACTUALLY hurt anybody…right??
I really wish you could zoom in on her face. She’s a maniac.
*She drives a car. She finally made the connection that if she pushes the big red button on her little car, it goes forward! We have some pretty amazing videos of her showing off this new skill, and they are soooooo cute. We’re very encouraged that she will one day be able to operate a power chair! This is another of those things that I didn’t really see happening for her, so when she started chasing my sister around the front yard a few weeks ago, I was floored. I guess I’m getting lots of pretty good lessons in learning to stop doubting my child!
We made her drive to the ice cream, then told her it was time for bed. Then told her again so I could capture her frown in a photo. Parents of the year.
*She got her first word! Mira now proudly, loudly, and CONSTANTLY says “more”. It comes out like “muh”, but it’s said in the appropriate context and she’s very consistent with it. Her team at school all hears it, too, so we know we’re not making it up! The only problem with this, if it can even be called a problem, is that she says it when she actually wants more of something (like another bite), but also when she just wants something she sees. Or for milk. Or for mama. So it’s AWESOME that she can communicate all of those needs to us verbally, but sometimes it’s a little tricky figuring out what she actually wants. We’re getting better at it, though, and are just over the moon that this is even happening! Blown away!!!
*She is developing a proper gait pattern! We definitely still have a lot of work to do on this, but we’re very encouraged to see her pick up her legs in the correct pattern when practicing walking. She needs a bit of prompting (like holding one foot down to allow the other to come up), but everyone can tell that cognitively, she knows exactly what to do. It’s just a matter of getting her legs to comply with her brain’s command. It’s so cute to watch her take steps, too, because they’re very deliberate. It’s truly the most charming thing you’ll ever see. Sometimes her high/fluctuating muscle tone in her legs makes her pick them both up at the same time, but she’s getting faster and faster at putting them back down to regain her balance.
*She stands up when she’s asked to! This is so awesome to me. The most proof we have (in my opinion) that big changes are taking place. If Mira is seated and her feet can touch either the ground or a footrest (really anything sturdy), you simply have to ask for her hands (she gives them to you), then say, “Stand up!”…AND SHE STANDS UP. Like, immediately. It’s bonkers. I’m obsessed with it. So is she. 🙂
I’m sure there are many wonderful things I’m forgetting, but those are the highlights of the last few months for me, at least as they relate directly to Mira and our family’s journey with this unique disability.
I would say that the best (and most surreal thing) to happen lately, though, is that a German family somehow found our blog, and have utilized the connections we could facilitate for them to get help for their 15-year-old daughter who was diagnosed only a week ago.
Her family has spent fifteen years having no idea what caused their daughter’s severe movements and other limitations. Then they got the diagnosis, and were still at a loss as to next steps, as their girl was in the hospital due to a severe movement storm and was so sedated she could not move at all. They are now aware that there are far more cases worldwide than they or their doctors initially realized, they have a broader network from which to gain treatment insight, and have been connected to neurologists who have performed successful DBS surgery on these patients. Beyond that, they were immediately and lovingly accepted into our GNAO1 Facebook community and I hope they continue to stay connected and share in this journey with the rest of us.
As I’ve said before, it often feels self-indulgent to blog about our experiences and share our daughter’s very personal and scary reality with a largely unknown audience, especially without her consent. But this connection we made proved that it’s so, so worth it. I hope that we can continue to share our experiences so that others who may encounter similar situations, or even the same rare diagnosis, can find a safe place to connect, share, learn, and receive support.
I love my family, I love science, and I (probably) love you.