Ava’s SMC1A Journey

03/05/2022

Today we saw the ophthalmologist. Ava put up one heck of a fight! She did not want them touching her at all and squeezed her eyes shut so hard that it took 3 of us wrestling her to do the exam. She’s worn out now! But we found out a few things. First, she does still need glasses but her eyesight has improved so she’ll get a new prescription and we’ll see how that goes. Second, she’s been formally diagnosed with Cerebral Visual Impairment. This was mentioned at her appointment a few weeks back with CCVI but it wasn’t formally diagnosed, just suggested that we follow up with her eye doctor. CVI is where the brain doesn’t properly process the image that the eyes give it. So glasses won’t correct it. Today they said that at this age we can’t know how severe it is or how much it’s going to impact her vision because we can’t just look in her eyes and see it. But she does have the symptoms like staring at lights, a bit of a latency in focusing, preferring to stare at certain colors. I don’t think it is very bad, because she’s able to recognize things around her and manipulate toys and respond to people. But as she grows it’ll just be something that we might have to adapt to. They decided to go ahead and diagnose her so that she can get the resources and services available to visually impaired kids that wouldn’t otherwise be an option, if we need it.
Now, she’s taking a much needed rest.

29/04/2022

I haven’t updated in a bit but there’s been lots of things happening. Ava had her appointment with the center for the visually impaired and they’ve found that her vision has improved immensely. She still has a little weird stuff like she can’t keep up with things that move across her vision quickly but she doesn’t at all need those big glasses anymore. We’ll see ophthalmology next week to take another look but hopefully she doesn’t need glasses at all anymore.
And then today she had her first weight check since switching formula. She’s lost almost a pound so that’s no good. We’re waiting to hear back from her nutritionist on what to do next but the poor thing just isn’t able to eat enough to keep gaining. She also has a small ear infection so we’re going to get that taken care of and maybe it’ll help her eat more.
She also got her prescription to be fitted for leg braces so she can better utilize her stander and work on gaining some muscle in her legs.

14/04/2022

Took this at therapy yesterday. Ava has started sitting up nice and tall and straight! She’s not really hunching over anymore which means her core is getting stronger! She doesn’t need near as much support to hold herself up anymore either which is awesome. Today her therapist came with one of the equipment guys to work on adjusting her stander. It now fits her perfectly! They had some trial AFO braces that they put on her because she has issues with pressure on the bottom of her feet and doesn’t want to push down. With the braces she actually stood up and was smiling and perfectly happy! So we’ve called the doctor to get a referral to orthotics and get fitted for her own braces. We’re supposed to do 30 minutes a day in the stander so hopefully strengthen her legs and get her used to that pressure. She’s also started being way more vocal and they’re discussing starting speech therapy soon to help her learn to talk. Lots of new things going on. Baby girl is making such big strides.

07/04/2022

05/04/2022

The most fun part of lunch is getting to play with the spoon after we’re done. She is loving this giant tray and scratching things on it. We also scheduled her evaluation for water therapy today! It’s not until June but really that’s fine because then the older kids will be with their dad so it’ll be a little easier to work another therapy session in to our schedule. Not sure if she’ll actually like it because she doesn’t seem to be a fan of water but we’ll give it a try!

02/04/2022

Yesterday Ava got to enjoy some fresh air and use her chair outside. We watched the kids play tag which she thought was hilarious. She also figured out how to play peekaboo with her blanket. She is so adorable 😍

31/03/2022

We got Ava’s chair today. She is seeming to love it. She gets to be upright and off the floor and more interactive with every one. It helps that it hold her in pretty well so she’s getting constant squeezes, which she loves. The tray has a bit of a texture to it too which is fun for her to scratch. The seat also comes off and clicks into a stroller base so we can take it to appointments too. We think this is going to be so good for her.

31/03/2022

Ava has officially figured out rolling! She’s unstoppable now! She figured out tonight she can just flip back and forth and she thinks it’s so funny. I’m so proud of her!!!
We had lots of appointments today. First the nutritionist. She’s 15 months and still on infant formula so they want to transition her to a pediatric formula. It’ll meet all of her nutritional needs and be higher calorie so it’ll help her gain some weight. Today was also a therapy day and she pushed herself up on her hands and knees and held it for several seconds!!! She worked so dang hard, she was exhausted. Then we saw the doctor and she got 2 shots and a finger poke, which she handled way better than her brother. The doctor also wrote us referrals to start water therapy and intensive therapy so we’ll have an even more hectic schedule but it’s going to be so good for her I think!

26/03/2022

Tonight has been rough guys. We thought we were going to the ER but avoided it thank goodness. Ava spent several hours just screaming. It wasn’t a regular cry, she sounded like she was in so much pain and it was the worst sound. She was writhing and hyperventilating and nothing was helping. We called the nurse line who had the neurologist call just to make sure she’s not having an emergency and need an ambulance sent, since we weren’t going to be able to go in for a bit. Her neurologist reviewed a video that I took and said he believes it to be a dystonic event. She did calm down and immediately fell asleep so the doctor decided that she doesn’t need to go in, since all they can do is give her medicine to put her to sleep. Let me tell you guys, hearing your child scream and having not even the slightest idea what’s wrong or how to fix it is absolutely heartbreaking. Hopefully tomorrow is a better day.

25/03/2022

Today is cerebral palsy awareness day. Although Ava doesn’t technically have cerebral palsy, her symptoms are extremely close. We have found so much support and wisdom and love in the cp community this past year. In the past before her gene was discovered, people like Ava would have been diagnosed as cp and most of us assumed that’s what she had until her mri showed that she didn’t have any brain damage. Today we stand in support of every one affected and hope for a cure someday.

24/03/2022

Ava got to try something new today! Last time we tried the walker she was NOT happy. She didn’t have the core strength to stay upright and was no where near reaching the floor. She cried and tucked her legs up and it took several minutes to calm her. I mentioned before that she seemed bored so I decided to give this a try. She seems to really like it! She’s been playing with the toys on it and looking around and putting her feet down. She’s not really weight bearing but we’ll get there, the fact that she’s even relaxing her legs at all is a big win. It’s been about 10 minutes and she’s still happily looking around!

24/03/2022

Jensen got some pictures of sister at therapy yesterday (and lots of pictures of his forehead 😂). Ava did so good pushing up on her arms and reaching for things but we’ve found she seems restless and a little bored. I’m not sure if she’s just bored of her toys or if she’s tired of not being mobile but it’s definitely taking a lot more to keep her interested and motivated. Today she got a compression shirt and we found some tights that are a size too small that give her nice squeezes. As soon as we put them on her she calmed right down and seemed so content. She’s definitely a sensory seeker! Thinking we need to update her toy box with some more interesting toys.

23/03/2022

Liam asked if he could help with Ava tonight so I showed him how to do some of her therapy and stretches, he watched me do her medicines and then took over feeding her. He told me that he’s going to start helping with her every day and when he gets older he wants her to live with him. Ava sure hit the jackpot with such awesome siblings ❤️

22/03/2022

Poor thing is still teething like crazy. Just one right after the other! So she’s feeling a little more grumpy and drooly than usual. We got 2 big bags full of medicines for asthma today and then Thursday a couple of nurses are coming by to bring the rest of her breathing equipment. Hopefully she’ll be able to spend less time in the hospital every time she’s sick.

17/03/2022

Ava has gotten reeeeally good at manipulating her therapists. She pretended like she had absolutely no idea how to use this toy today even though she knows perfectly well how to spin it and has been doing it for a year. As soon as therapy was over she was happy to drop the act and play freely. Little stinker 🤦‍♀️

16/03/2022

I’m going to start posting Ava’s updates here to keep things all in one place.