Cephaly

Summer, Babies, School, and Updates

I’m back after summer!  It’s been a busy one and we’re starting to get into the new Fall routine.  I’m sort of, kind of, really excited about Fall!  I’ll do a little individual updates on the family and what we’ve been up to for the past few months.

Miss Paige has been hard at work all summer with therapies and Conductive Ed camp.  The Paige Patrol t-shirt fundraiser we had for her was put to great use in this camp and we are thrilled with her progress.  Initially, we signed up for a four week camp with Paige going Thursdays and Fridays from 9am-noon but ended up attending all eight weeks! I was there with her and it was a block of therapy that basically focused on muscle memory and incorporated both gross and fine motor skills.  I describe it as conjoined Physical and Occupational Therapy.  She was in a preschool classroom environment with several peers so she had interactions with other children and adults, which I loved!

The day started with a good morning routine and introductions.  Paige enjoyed the songs and was incredibly receptive to the instructions.  Then, we made our way to the planks (slotted wooden benches) and did back and tummy workouts.  We stretched and focused on each muscle group with a different exercise.  All of the workouts seemed to be really simple but they were actually very detailed and required Paige to use her hands and feet simultaneously, head control, muscle strengthening, visual focus, cause and effect, and body movement.  The exercises were the same every single day and incorporated really fun songs, dances, and toy props that were interesting and stimulating.  Paige did a fantastic job and gained leaps and bounds with her fine motor skills and hand exploration (which has been a huge obstacle).  I’m 100% positive her favorite part was the body massage with a spiky ball at the end and I can’t blame her one bit.  She worked hard!

Next, was snack time, or as the Hungarian conductors called it, morning tea.  Each child had their own spot at the table and they sat at a bench with “their person” behind them to help them eat and drink.  We worked on using utensils and the adults used this opportunity to talk and compare notes, so to speak.  It was great to have Paige be part of a group and she really loved it.  I really loved it!

The last hour was dedicated to sitting and standing work using wooden ladders, benches, yoga balls, and props.  The conductors did a great job of entertaining the kids with songs and games and every activity has a cause and effect goal that went along with the muscle building.  Paige wore her AFOs (foot/leg braces) and her Benik vest (for back support) which helped alleviate some of the work from those areas so she could use her energy to work on the activities.

When it was time to leave, we said our goodbyes and each child had to work to get out of the door.  Paige was usually assigned to roll or army  crawl out the door.  Towards the end, we tried taking steps using the ladder and that was incredibly moving to see!

Overall, we had such a wonderful experience that we decided to enroll Paige in the Conductive Ed preschool one day a week in conjunction with CE coming to the house via Early Intervention.  Paige gets to be in a preschool environment and still continue her visual, physical, and occupational therapies at home!

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I’m super happy to report that Paige is also MOBILE!  She is rolling around as her mode of transportation and exploration.  She likes to scour the floor and usually gravitates to the dog’s bed.  We weren’t ever sure if she’d ever roll over and it’s so amazing to see and we never take her progress for granted!

Mr. Will also had a busy summer!  He attended his own summer camp through his preschool and he had an absolute blast with it.  He enjoyed exploring outside, collecting rocks, swimming, dressing and picking out his own clothes, staying up late, shopping with his mom and playing sports with his dad.  He has a really great group of friends he’s known since they were all babies, and their mom’s happen to be my best friends, so we get together frequently and had a really great summer of playdates, birthday parties, and exploring Pittsburgh.

Speaking of birthdays, Will turned FOUR on August 30th and had about 3 weeks worth of birthday celebrations.  His first was with his buds at Chuck E. Cheese’s, second was bike shopping and dinner with the Barbour side, and the third was spending a fun day at Del Grosso’s amusement park with the Shearer clan!

Our little man just started 3-4 year old Pre-K and will be attending three days a week with his friends and teachers from last year!  We’re super proud of him and we’re excited to see what he learns this year.

In other news, we found out that Will and Paige are going to be a big bro and a big sis to a baby BROTHER!  Yep, it’s definitely a boy and he’ll make his entrance into this crazy crew in mid January.  The pregnancy is going well so far and, due to Paige’s history, we’ve been monitoring the head shape and anatomy a little extra carefully.  Per our genetic report, another Lissencephaly diagnosis has less than 1% chance of happening but it’s still very nerve-wracking and I would be lying if I said I didn’t get anxious about it.  The twelve week ultrasound and the anatomy scan showed everything looked great, so far.  We are planning to do a follow-up scan at 30 weeks and a possible fetal MRI to make sure.  Our MFM doctors are pretty confident that if the 30 week head scan looks good we can forego the MRI.  I don’t know how I feel about THAT but we’re taking it one day at a time and I’m going to think positively.

**I really waffled on if I should add those extra details or not but I decided to include them because some Liss parents have asked me about my experience to take the “next step”.  Deciding to have another child after a diagnosis isn’t an easy decision and I know that I asked many parents about their experience before we decided.  I always want to be honest, so if it helps the curious, I’m all for it!

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We’re excited!!!

And some more pictures just because…

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More updates to come!

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Family Updates (sorry to leave you hanging!)

It’s been a while since I’ve posted and in my last post we were preparing for Paige’s 24 hour EEG and I apologize to have left everyone hanging with the results.

Long story short, there were no changes from her last EEG.  That’s good news!  BUT, after this one, her neurologists recommended putting her on anti-seizure medication.  While no seizures were present, Paige’s EEG showed to have a lot of “seizure like tendencies”.  After talking about the option with Andrew, we initially decided to hold off on the medicine because she wasn’t actually having them.

We’ve noticed some questionable movements from her like squinting her eyes, stiffening her muscles, and holding her breath.  We kept a close eye on them and sent videos to her neurologist asking his advice.  Her neuro called back and told me the movements we were seeing didn’t look convincing to him and he supported our decision to hold off on medication.

A few days later, however, her Occupational Therapist was working with her and noticed the clenching of the fists, holding of breath, squinting, and hunching over all at once.  Before, they were here and there and were very quick.  This time, her activity lasted a half an hour and they were hard to stop.  Paige’s OT was concerned and agreed it definitely looked like something.  We cut the session short and I decided it was time to go to the hospital.  Luckily, Andrew was on his way home  from work and I was able to take her straight to Children’s.

When we got there, Paige’s activity was still present and the neuros on call requested a 1 hour EEG.  While they were asking me questions and getting ready to start, Paige started clenching, held her breath, and definitely stiffened up.  Of course, while I hate to see this, I was relieved the neuros saw it in person.  Right then and there, we decided it couldn’t hurt to start the medicine.  Her doctors agreed she was stable enough to go home and we left with a prescription for Keppra.  The medication works on a number of seizures and has very little side effects so I was happy about that.

Paige’s regular neurologist called back a week later and said that he read over both of her recent EEGs and told me that no seizures showed up and she was NOT having them.  Again, GREAT NEWS, but it still didn’t explain her questionable movements.

Funny thing is, the medicine seems to be working in different ways!  Her “seizure like activity” has definitely lessened and she seems to be more cognizant.  When she’s mad, she’s M.A.D!  When she’s happy she laughs more.  A wider range of emotion is present and we’ve started to notice more communication from her.

Before we do anything with her, we talk to her about it and ask her questions.  Often, we know exactly how she feels about it.  She loves her bath and when we ask if she wants one, she gets noticeably excited.  When we ask her if she’s hungry she grunts and we know that means ‘yes’.  When she SEES her stander she SCREAMS!  We know she hates that.  Paige obviously gets excited over bath, food, car rides, shopping trips, and when Dora the Explorer comes on.  She does NOT like her stander, toys with loud bells and whistles, and getting her diaper changed.

This may be a pretty big goal, but I’m going to try to ‘potty train’ her soon.  I know that she’ll always be in a diaper, but I’m going to start to sit her on the potty to get her used to the feeling.  Maybe some day she’ll learn to hold it or wait till she gets the potty cue to actually go in it.  Paige constantly shows us she’s more capable of doing things we didn’t think are possible  so it’s worth a try.

Paige’s big bro, Will, is also doing well.  He got completely spoiled over Christmas and is still loving his toys.  He loves school and playing with his buds.  He’s super creative and has a wonderful imagination!  Paw Patrol and Ninja Turtles reign supreme in our house and he loves to play X-Box (using a fake controller) with his daddy.  He’s also very excited about taking ice skating lessons in March!

Next month, Andrew and I will be celebrating our 8 year ‘dating anniversary’ on a Gateway Clipper dinner cruise and will thoroughly enjoy our date night!

It Just Happened – Genetics Results

Three months after getting genetics blood work taken, we finally got the call with the results!  Last Wednesday, I was putting away groceries when I saw that I had a missed call and voicemail from a number I didn’t know.  Whenever I see the particular area code that popped up I always assume it’s a doctor or a therapist so I listened to the recording right away.  The genetics counselor said she had Paige’s results in front of her and was ready to go over them but, since it was the afternoon, she would call the other contact number (Andrew) before trying to call me back.  All the while, Andrew was on the phone with her and I was waiting not-so-patiently until he texted me,

 “the news is good..”

 

Paige’s Lissencephaly is due to a mutation on Chromosome 17.  This type of mutation is something that happens for the very first time in families and neither Andrew or I carry any gene that caused this to occur.  There is no real science behind it or explanation for why and the chance of this ever happening again is very, very, VERY, low.  Like, less than 1/1,000,000 chance of happening again low.  When it was explained to us before, it was the “genetic freak accident scenario” and it was something that just happened.

For our family, it’s probably the best news we could receive and we feel thankful.  While it eases some of our fears about future family planning, it also felt like a weight lifted off of my shoulders now.  It’s still pretty maddening to not really know why, but every bit of new information makes it easier to move forward.  This did not happen from some illness that I acquired, or from a ham sandwich that I ate, or from anything that Andrew or I did.  It’s just something that happened and it makes Paige that much more special.  It. Just. Happened.

A few of my previous posts have been written after some pretty bad and emotional days and might have come across as negative.  I do not want to be a negative person and I don’t want to spend my time worrying over things I have no control over.  In a weird and convoluted way, I think the “it just happened” explanation helped shift my attitude.   No one asked for it, but it happened, and we’ll make it work.  As we’ve said before, this won’t make our lives worse.  It will make it different than what we expected, but we will still live a full and happy life.  I sort of had a revelation after last week (scary, I know) and I came up with this…

I would be devastated if my parents were disappointed in the things that I could/could not do and wanted me to be something that I was not.  Everybody really just wants to be loved and accepted for exactly who they are – and Paige is no exception.  Paige needs me, especially as her mother, to just love her, be there for her, and celebrate her for what she is.  It really doesn’t matter anymore if she’ll ever walk, talk, or fly to the moon.  Andrew, Will, and I will help her little self get as far as she will go and, however far that is, we will be so proud.  We are already so proud – and that is something that will ALWAYS happen.

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I mean, honestly, how could you NOT love this girl?!

Tomorrow, Paige will have a Feeding and Swallowing Test done to see if she’s aspirating.  Aspiration is very common with Lissencephaly and can lead to infections (pneumonia, in particular), other pulmonary issues, and a slew of other problems.  There will be a team of doctors that will observe her while she eats.  If they find that aspiration is a problem, they will make suggestions like thickening her food, changing her bottle, or even a feeding tube, depending on how severe it is.  While Paige has been a pretty excellent eater, I’m expecting some sort of modifications.  Occasionally, she coughs during a feed and sometimes, though very rarely, she’ll throw up her food after meals.  Whatever the outcome, I’m sure that it will lead to whatever is best for Paige and our family.