Wednesday, August 31, 2016

Fever free, a little tense but cuddly

Reagan was being vocal and woke me up around 5:30am this morning. I think she was calling me to come clean her up! The leaky poos strike again. I changed her, and thankfully had put a pad under her last night that I was able to easily remove, and tucked her back into bed. We all fell back to sleep. She woke up around 7:30 being super sweet again. Shortly thereafter there was poo number two. Still very watery...looks almost like it has bits of blueberry or spinach in it (TMI?). What have you been eating Reagan?? No nurse today so it was just me and the kids. I got Ryan off to school (thankfully a friend was able to take him) and then Reagan and I just hung out. Her speech therapist came at 10 and worked on her computer. It wasn't until 10:30 that I realized that I had yet to start giving her her meds! Oops. Definitely not a good nurse. She got them all and then we spent some time cuddling on the sofa this afternoon. She was getting a little agitated (I think her tummy was hurting) but as soon as I held her she settled down and fell asleep. Grandpa picked Ryan up from school and then took him to therapy. Reagan eventually woke up and was calm again. Tonight she did have another incident where she seemed a little tense and was getting close to tears, but I held her and then she dozed off in my arms! Sweet girl. Hoping she feels better tomorrow. Today was her first fever free day! 


Tuesday, August 30, 2016

Sweet sick girl

Reagan slept well last night but woke up with a low grade fever and another big poo this morning. She's been in good spirits, just full of poo! All therapies were canceled so we decided to go on a long walk. A loooooong walk through the neighborhood (2.24miles). Reagan was great, but her nurse and I were both sweaty by the time we got back! She's been super sweet all day today (another 4 poo day). We didn't give her any fever reducer so we could keep an eye on it to see where it was headed. All day it was hovering at 99-100, but this afternoon it went back up to 102. We gave her some tylenol and then it was gone. Hopefully for good (it didn't go back up at all so fingers crossed)! She's been super precious tonight and dozed off pretty early. Hoping she gets some good sleep and wakes up feeling much improved in the morning.

Monday, August 29, 2016

Oh no...not a fever!?!?

Reagan has had a bit of a strange day today! She slept well last night but woke up with a very stinky poopy diaper this morning (we don’t even remember the last time she went on her own)! We had just finished cleaning her up and changing her when it was already time for speech! She was a little wide eyed but she seemed fine. She made it about 30min into speech when all of a sudden she broke out into tears! We’re not sure what it was, but I picked her up and held her and that eventually calmed her down. We decided to just skip the rest of speech and her nurse and I took her for a walk through the neighborhood. She was great for the walk, a little vocal at times, but I think she was just talking to us. We were home only minutes when she had another big poo! Thank you for waiting Reagan! This was perfect timing for her bath, so we immediately threw her in the tub for a thorough cleaning! The rest of the afternoon she dozed a lot. She was kinda moany/vocalizing half awake/half asleep the whole time. Then about 30min before our nurse was due to leave, she thought Reagan felt a bit warm. She took her temp and it was reading 102-103! She thought surely there was something off with the thermometer, but we changed the batteries and checked everyone else, and Reagan’s temp was still very high. We gave her some acetaminophen and her temp was down within 30min.  It was at this point that I realized I needed to notify her pregnant nurse scheduled to work tomorrow. We really don’t want to expose her to anything, so thankfully our new nurse offered to pick up her shift if we needed her. Yes, yes we do! Tonight she was good but did have two more stinky poo diapers. It’s not completely unusual for her to have a day where she poos 3-4 times, she used to do it once a week or so, but it’s been a while since we’ve seen one of those days and the fact that they’re a little mucousy and we’re also seeing a fever makes me think something is definitely going on. Ryan had a cough last week (and still has it) but no other symptoms. Ugh. I hate to think he’s already getting his sister sick after only one week of school! She was good the rest of the night and ended up dozing off on the floor and making sweet little noises here and there (even though her eyes were still closed). Precious girl. I hope she can sleep tonight and wakes up feeling better in the morning!




Sunday, August 28, 2016

Sleep the day away

Today was a sleepy day for my girl. Seriously sleepy. She slept the ENTIRE day, never waking up once. It wasn't until tonight when she had a big leaky diaper that I finally moved her out of her bed so that I could change everything out. And no...she didn't wake up. Not even for a second. She was OUT. We moved her back to her bed and she's still fast asleep, so I think we're all going to get a good night's sleep tonight! Happy that my girl got some much needed rest but hope to see that sweet smile tomorrow!

Saturday, August 27, 2016

Serious, sensitive, then sleepy!

Sleep wasn't great again last night, and then to top it off, my girl was quite serious this morning. She's had an OK day today. We've had to be careful with talking around her, but she's been otherwise OK. This afternoon she was a little sensitive and getting increasingly vocal (like she might cry any minute), so I picked her up and held her and she immediately fell asleep on my lap. I held her for at least two hours until I had to get up and then I switched places with Daddy who then held her for another good while. Eventually I took her back again and held her until Daddy finally took her up to bed. Originally she seemed to be sleeping lightly, but she's out OUT now so I think she will finally get that good night's sleep we've been waiting for!

Friday, August 26, 2016

Eyegaze and AFO appts

Reagan woke up again last night at exactly the same time as she did last night. Right around 1:45am she was vocal and not wanting to stay in her bed. I moved her to her chair where I "think" she dozed back off for a bit, but every now and then I'd here her vocalize so I know she wasn't sleeping too soundly. She did get pretty vocal again right around 5:15 before my run and this time I thought she might actually cry. I gave her a dose of oxycodone and she dozed back off. That didn't last long though, she was back awake by 6:45am and her brother was up shortly thereafter! Ryan woke up with a nice gunky cough this morning. Less than a week in school and he's already bringing home the sickies. Even with her little bout of craziness this morning, Reagan has actually turned out to have a really great day! She was pretty sensitive this morning when it came to us talking, which made things a little difficult at first during speech when we had the eyegaze rep out to help adjust Reagan's mounts. She seemed to mellow out though and we were able to get some good referrals and ideas on things we need to do with her computer. We only had about 30 min to then get ready and out the door for her AFO appt. Unfortunately it was just a talking appt and no doing (although she was a super star tolerating all of the stretching). We'll have to go back to have her recast. Her current AFOs are just "too aggressive" requiring her to stretch more than she's even capable of at this point, causing her left foot to turn in to try and compensate. So for this next pair we will try get her in on a fairly high tone day, so we know we're being realistic when it comes to stretching and we end up with a final product that she can actually spend more time in (and with her feet in the proper position). We came home and found Ryan and Grandpa swimming in the pool. We kept Reagan downstairs and just spent the rest of the afternoon lounging in the living room. She's been a lot more calm and laid back this afternoon/tonight. Happy just rolling around on the floor. Sweet girl, I sure hope she sleeps better tonight! 


Having fun playing ballerina! She's definitely got the toe point down! 






Thursday, August 25, 2016

Sweet, vocal, and a little kooky

Reagan woke up around 1:45am super vocal and didn't go back to sleep. She's still been super happy and super vocal today, a little kooky, but sweet. She had both PT and OT today and did well with both. Everyone is loving this sweet darling girl this week. Tonight she was very vocal and a little twitchy. She kept stiffening out as she was trying to fall asleep. Daddy laid down with her and she was dozing off but every time he tried to get up, she'd wake back up and start vocalizing. Ugh. Go to sleep silly girl!

Wow! Another huge difference in just a year! 💗

Wednesday, August 24, 2016

Another tooth lost!

Reagan had another great day today. She slept well last night, that is until 4:30am or so, when she decided it was time to get up! She's been super sweet, super smiley, and vocal today. And another shocker...she lost ANOTHER tooth this morning! Her upper right canine...we didn't even know it was loose! Her nurse just looked at her and saw it sitting on her tongue! So crazy. The new tooth isn't out yet, just gums, but it didn't even bleed that much (it must've been really loose). No therapies this morning, we had actually canceled speech on account of an orthotic appt that was rescheduled. Instead we took a nice little walk. Another 1.34 miles to our log (2.88 miles total). It was a little warm but windy so it wasn't too bad. This afternoon she had another session of school and vision came along. She did well with everything. What can I say, she's been a wonderful girl this week! Tonight she gave us a little grief going to bed again. Hoping we all get some sleep.

Tuesday, August 23, 2016

Finally lost her tooth

Reagan slept well last night and woke up once again super sweet and adorable! While I was at speech with Ryan this morning, she lost her tooth! The tooth that's been hanging in there FOREVER, refusing to come out even though the permanent tooth is already completely in, yeah that tooth. It finally just came out while she was getting her teeth brushed this morning! We were all SO excited! She's had another great day today. She had both PT and OT and did great with both! She's been just so sweet and so super smiley, just a joy to be around. Love this girl! Her hips have been a little poppy lately, something we need to keep an eye on. During PT she even seemed to wince once when it popped, but then seemed fine. We typically check them via x-ray once a year but I think we usually do that in October. We'll see. If we see any more wincing, then we might need to move it up. Tonight she still was an angel, but didn't fall asleep on her own like she's been doing lately. I'm hoping she sleeps, but who knows.

Monday, August 22, 2016

Awesome first day of school

Reagan had another great day today. I heard her vocalizing when I got back from my run and I was a little afraid she might not be happy. But when I walked in and peeked over the side of her bed, I found the sweetest, most smiley girl EVER! She has been ridiculously wonderful all day today. She had a busy day of therapies. Speech this morning and then OT and school this afternoon! She was AWESOME for everything. What a great first day of school. Her brother had a good day too, much to my relief! This afternoon we took another little walk around the block. We only walked two loops around our block but we made it a tiny bit further today (0.79 miles -> 1.54 miles total).








I guess you'd say he's grown some! 😳

Sunday, August 21, 2016

Sweet girl and a walk in the rain

Reagan slept well last night and woke up this morning calm but sweet this morning. We did see one little episode of head turn to the left and eyes fixed upward to the left. It lasted maybe 30sec-1min or so and then she finally broke out of it. It's been about 20 days since we last saw that so it's still definitely looking like its following some sort of hormone fluctuations. This afternoon we took a nice little walk. We're thinking of signing Reagan up for a Halloween Marathon in October, where kids can do their miles in the months leading up to the race and then the day of they do the last 1.2. Ryan rode his bike and we followed behind. We did get stuck in the rain for a bit. Reagan had a rain canopy, so she was the only one that stayed dry. Ryan took off and rode super fast, even jumping the curb trying to get back to the house quickly. We only made it 0.75 mile, but it's a start. Tonight Reagan was beyond precious! So cuddly and sweet...we just couldn't get enough of her.


Ryan playing with a worm...poor worm!

Saturday, August 20, 2016

Sleepy, sensitive, but sweet

Reagan slept in this morning until around 11:30am. She woke up tense and a little whiny and eventually needed some Lortab intervention. She dozed back off after the Lortab and then slept until the afternoon. When she woke up, she was noticeably improved. She even had a little crack of a smile! We brought her downstairs where she was good (for the most part) for the rest of the night. She did have a few little hiccups where she got upset and either nearly or actually did start crying, but we were able to calm her down pretty quickly. I think she was just a little sensitive to our excitement over the olympics! ;) Something is definitely a little off with her. She's been a little congested and had an interesting smell to her breath all day today. Still grinding her teeth. She didn't poo yesterday, not even after her enema, so I think her tummy is definitely giving her some troubles. She's also had that ongoing issues holding her pees, although she was much better today and didn't need help going even once.

Friday, August 19, 2016

Calm, serious, but holding

Reagan slept well last night and woke up just in time for speech this morning. She did OK, considering she had just woken up, working on her eyegaze and even ate a little. She's been pretty serious today (with a little tooth grinding) but calm. And all day today she's been holding her pees. We had to use the water trick multiple times today just to get her to go at all. When she goes...she GOES..but won't go on her own. Today was also her day to poo (we use a mini enema every other day to help keep her regular) and it was the first time that she didn't go. Not with the enema, not with help...not good. The crazy thing is, her body is still very relaxed, so it's not like the tone is what's interfering with everything. No idea what's going on with that little body of hers. She's been very calm and easy going though. Tonight she wasn't falling asleep on her own and freaked out when we gave her clonidine. Ugh. We just never know when it's going to work and when it's going to make her crazy. Hoping she settles down soon and sleeps tonight!

Waiting for bubbles...

Where's Ryan?

She's soooo long! :)

Thursday, August 18, 2016

Tube change and PM&R follow up

Today was a super busy day for us all! Ryan had speech therapy first thing this morning and then we came straight home to meet the teacher at his new school! After that we headed home and got ready for a even busier afternoon. We loaded up both kids in the car, dropped Ryan off at ABA, and drove to Dell for Reagan's gj-tube change. We have noticed the last several days her tube has been a little leaky and then yesterday we realized that the lock is also broken so the tube just freely spins around (making it more susceptible to popping out)...so at 4 months again it's definitely time for a change. They were able to squeeze her in at 2pm, giving us just enough to get that done and then head over to her PM&R appt. While we were waiting, I was texting with the DME rep about the carrot carseat and that we weren't sure if it needed more adjustments (this was the first time we had used it in the car), and the rep was able to just come meet us there since she was close by! So she was adjusting the carseat when they came to call us back. She continued making adjustments while we went in and had Reagan's gj-tube changed. Reagan was super calm and patient, which is good because the doctor again had an issue getting the tube out. The last time it was the balloon wouldn't deflate all the way, this time it was the tip of the tube that didn't want to come out! She was a rock star as always and just laid there being an angel. Once it was finally replaced, we took a quick video so I could document the broken lock, and then we loaded up and headed over to her other appt. This was basically just a follow up appt to talk with the PM&R doctor about the fact that the myobloc (botox B) didn't work at all this time. It doesn't really leave us with any options. In my mind, surgery is NOT an option. It's too risky that she'll have a negative reaction to the anesthesia or surgery/pain and often times kids go through these surgeries and have no lasting benefit. The oral medications aren't really a good option for her either because you can't administer them as needed and I refuse to drug her up all of the time. At this point we really just have to stretch and use AFOs to try to get her upright and weight bearing and that's the best we can do. We're not going to reverse her super pointed feet, but hopefully we can find ways to work with them! My sweet ballerina! Such a good, laid back girl today!



Wednesday, August 17, 2016

Laid back day

Reagan slept well last night and woke up sweet and snuggly this morning. Only one therapy today, speech. She did well with that. We're talking to the Tobii eyegaze people right now about getting a mount that we can use to make her eyegaze more accessible to her (so that she can use it where ever she might be sitting...tomato chair, wheelchair, etc...). The goal is obviously to give her the opportunity to communicate at all times, which means we need to find a way to give her access to the eyegaze as often as possible (not just during school or speech). A rep is coming out next week so hopefully we can come up with a solution that will work. Reagan has been good all day today. Very laid back and calm. She's got a busy day tomorrow (it'll be our first time to try the new car seat out), so I'm really hoping she gets a good night's sleep and wakes up just as laid back tomorrow! ;)



Today is my sister's birthday so I thought I'd post a picture of her and a little Reagan! 💗



Tuesday, August 16, 2016

Carrot 3 car seat take 2!

Reagan slept well again last night and woke up super sweet this morning. She's still very loose in her body. Super adorable. A little more vocal today, good vocal (a talky vocal not a crazy vocal). She had PT this morning followed by OT. She did well with both, but she did doze off at the end of OT with her gold medal in her hand! So adorable! Of course we had to disturb her a little because the DME lady came by to fit the carrot carseat to her. I have to say, once all of the pieces were added, it looked like it might actually work! We put Reagan in it and she never even cracked her eyes! She was out COLD. She did eventually wake up and was awake until 10pm or so tonight. She's been very still and very calm all day today. She's kinda been holding her pees all day today, having several really large (flooding) pees. Tonight her tummy was noticably distended, but I really think it was more gas than anything. I tried to move her around to help her get some of it out, but she ended up dozing off again in my arms. Sweet girl.




Never moved a muscle! :)



Monday, August 15, 2016

Great cardiology appt

Reagan slept like a rock last night. This morning she was still asleep when we had to finally wake her up and get her dressed and ready to go to her cardiology appt. It was just her yearly check-up, but we figured there's no better day than a sleepy day to get an echo/ekg! I'm glad we woke her up and braved the rain because she was a perfect angel. Any other day her movements might have made it tricky to get a good reading, but today she was so still and so calm and patient, she just laid perfectly still during the echo. The doctor looked over everything and said her heart still looks perfect! Not a lot of systems functioning properly for my girl, but boy am I glad this one is in tip top shape! So we'll be back in another year for another routine check up. The rest of the day we just took it easy. Another lazy rainy day. Very loose, still hands, lots of yawns...SO laid back. No therapies since we missed speech this morning. Lots of snuggles. And hopefully another good night's sleep!



Sunday, August 14, 2016

Sweet dreams, sweet girl

Today was yet another super sleepy Sunday for my girl. It seems like every other Sunday (when Grandma comes to visit) Reagan has a sleepy day. It was the perfect day for sleep though, raining off and on all day. She slept in bed the entire day, not waking up until right around 7:30pm! Thankfully she woke up and was a sweet darling girl! She wasn't awake for even a full 2hrs when Grandma came in and started talking to her, lifted her legs up and she immediately dozed right back off. Sweet dreams, sweet girl. Really hoping she wakes up tomorrow feeling much more relaxed...she's just been so tense lately.


Saturday, August 13, 2016

Sensitive Saturday and new genetic information

Reagan got a pretty good night's sleep last night. She fell asleep laying beside Daddy. When I went to hook her up to her formula, she would open her eyes for a few seconds and then close them. She woke me up around 5:30am and I then moved her to her chair. I kept it dark in hopes she would go back to sleep, but I don't think that ever happened. Her nurse got here at 7:30am and found her wide awake and laughy. She's had the crazy laughs off and on today. If you encourage it, she'll go on and on, to the point of almost tears (so we try not to encourage it). She's been pretty sensitive today to us talking and almost cried several times when we were just trying to have a conversation but forgot about her sensitivity! Oops. Excuse us, Miss Reagan! Her body is still pretty tense and crunchy. I would love to see her mellow out and loosen up soon. She's been tense for quite sometime now. So yesterday, right around 6pm I got a call from Reagan's pediatrician. Apparently some geneticist from Baylor had contacted him about Reagan's whole exome sequencing. There was a mutation that had been found that had been linked to "intellectual disability" and upon reanalysis it was mentioned that it was possibly a "damaging" mutation but neither we nor our geneticist were sure what that meant. We weren't sure what other symptoms had been found in patients with this mutation and if it could have anything to do with Reagan's health issues (which are way more concerning than her developmental delay). Well, as it turns out, this geneticist has been collecting information on several patients (4) that have this exact same mutation as Reagan c.892C>T (p.R298W) in the NACC1 gene and all of the kids had both infantile spasms/epilepsy AND cataracts. Now he wants to get more info on Reagan so he can see if there are any additional similarities that Reagan has with these other patients. So this may actually be the "cause" of all of Reagan's issues. Neither Mike nor I have this mutation (and neither does Ryan) so this is something called a de novo (new) mutation ("de novo mutations may explain genetic disorders in which an affected child has a mutation in every cell of the body but the parents do not and there's no family history of the disorder"). Now does this mean that Reagan doesn't have mitochondrial disease? Yes and no. It means that she probably does not have primary mitochondrial disease, but we know from her muscle biospy testing that she does have mitochondrial dysfunction. So at this point I think she'd be considered to have secondary mitochondrial disease. These are all things we will discuss in Sept when we have an appt with the Geneticist in Houston who is running the EPI-743 study. Of course we are going to consent to participation in this new study and hopefully we will find out more about the other kiddos that have this exact same super rare mutation.

Friday, August 12, 2016

Carrot car seat demo and box

Reagan finally slept well last night. She was quietly laying in bed when her nurse got here at 8am. She's been pretty sweet today. Less vocal. Still a lot of chorea but pretty calm overall. She only had one therapy today, PT, but she did well with that. Today was a pretty laid back day. Not a lot going on. We did have a new carseat demo dropped off. The Carrot. We've been waiting for weeks to try it, but when they dropped it off we had a huge concern. See below. The Carrot when compared to the Recaro Monza, looked as if it wouldn't even fit a toddler! After staring at it long enough, we realized that it was missing several pieces that make it a lot taller/bigger (although I'm still skeptical that it will be big enough). They called back to their warehouse and realized they had left an entire box of additional parts behind. Someone eventually brought the box by late this afternoon, but they just dropped it off and left. So we'll probably have to get our DME rep to come by next week and help us get it all put together! It looks very cushy but I just can't see that it's going to be big enough for our growing, long legged girl. Ryan was LOVING playing in the box that it came in. He was too funny! Everyone was good tonight. We're of course watching a lot of Olympics. Tonight I have noticed some neurologic sensitivity/quirks in Reagan, she's been showing some sensitivity in her eyes, a little gaggy/chokey off and on, and lots of stiffening of her arms. I'm not even going to try clonidine tonight, I'm just hoping laying down with Daddy will do the trick. Fingers crossed we all get some sleep again tonight! (I did have an interesting conversation today with Reagan's pediatrician and then a geneticist in Houston, but I will elaborate more on that tomorrow.)


THIS is what we hated about the Recaro Monza! Not enough support for Reagan. It really needed a clip in the middle to help keep the straps on her shoulder (which were also cutting into her shoulders). As is, it was not safe. 






Thursday, August 11, 2016

Similar days

Reagan made it in her bed a little longer last night. I think it was around 4am when I had to move her. I'm feeling a bit sleep deprived but she seems no worse for wear. Reagan had PT this morning and OT this afternoon. She did well with both. During PT she did an art project and made the olympic rings (see below)! Today has been pretty similar to yesterday. She's still super tense in her body, lots of movement and super crunchy, but she's been a good girl. A little serious, but good. She's been holding her pees off and on and I have noticed a slight smell to them, so all week I've been a little concerned maybe she was getting another UTI. However we've tested multiple pees over multiple days and never found anything. I was just thinking that might be a reason for her being so tense and so vocal...but I guess not. Hoping she finally gets a full night's sleep tonight! We could all use that!

Turtle position 

Wednesday, August 10, 2016

Pretty good day but not so great sleep

Sleep wasn't great again last night. It was another night of her waking up around 2am and then having to be moved her to her chair. I think she probably went back to sleep, but who knows. She had speech this morning, not the best day for the eye gaze, she's just still so crunchy! She did seem to enjoy eating though. This afternoon she had a make up session of OT and then immediately had school. She did really well with both. Overall she's been a good girl today.  Still very tense in her body but a little less kooky, which is good because all of the screaming was beginning to give me a headache! I did have a major malfunction tonight when making Reagan's formula at 12am! Ugh. What a mess. Meanwhile Mike was laying down with a clonidine crazy Reagan. It's almost 1am now and she's just now quiet. Hoping she finally gets a good night's sleep.

Here's her brother passed out cold at 5pm after a busy day. Reagan take note of this.

The mess! 😣