Tag Archives: Rett

Sixth grade: seizures and screaming and scoliosis and Hope?

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This is not your typical beginning of the school year update. I don’t have time for nostalgia as we’re playing a thankless game of whack-a-mole and the stakes are terribly high. Where to begin….

Lily started having seizures at the end of May. We’ve been working with her neurologist to find the right medication but it’s a long process of trial and error. Seizures are scary. And they’ve been happening daily. This sucks.

Also, and likely related, she’s been getting easily overwhelmed. It started with sneezing and coughing – she’d break down crying whenever someone made an unfavorable noise in front of her (which curtailed our already limited social engagements) but now she’s been having full blown meltdowns. Daily. Usually in the afternoons. And for no known reason. This sucks too.

And as if those things weren’t enough, the latest result from the orthopedic surgeon show that not only has Lily’s scoliosis progressed, but now one of her legs is growing at a different pace. What. The. Suck.

The Hope? Well the Hope (not sure why my autocorrect keeps capitalizing this word but I like it) is that maybe going back into a familiar routine will help us all move into a new normal with less pain, less screaming, more peace.

And throughout all the hell this child deals with because of Rett syndrome, she still continues to have moments of calm and joy and positivity.

Thankfully, for her first day of 6th grade, she had a good day.

First day of school photo shoot

Rett Syndrome and a pandemic don’t mix together well

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I know that everyone can say that the last 12+ months have been a roller coaster. For us parents of kids with complex medical conditions, we were already on a roller coaster so life just got crazier and more intense.

That’s why you’ve not heard from me in a while.

Yesterday is a good example of the roller coaster of our lives. It started out with a semi-urgent scheduled appointment with Lily’s Rett specialist. And ended with a jam session (courtesy of Stephen) dance party/giggle fest. In between, we went to the botanical gardens to decompress from the hospital visit which has become somewhat of a family tradition.

So let me backtrack. There’s a lot that’s been going on with Lily. Some of it good. Some of it not so good.

The good: she’s gained 10 pounds, grew a few inches and is progressing well at school (even in a fully virtual environment).

The not so good: during her growth spurt, her feet didn’t grow right which has been impacting her ability to walk, she’s having zone-outs that are looking more and more like seizures and she’s become very temperamental.

Hence the appointment with the Rett specialist.

A lot came out of that appointment that I’m still trying to wrap my head around. Lots of recommendations were made. And with the help of Stephen and the doctor, we’ve prioritized the to-do list. Here are the headlines:

1. We will need to admit Lily for a 3-5+ day EEG to see if she’s having seizures.

2. Lily will be getting Botox treatments for her feet. The AFO’s (i.e., leg braces) which we got about a month ago to help with her gait and foot deformities aren’t doing enough. Adding Botox will hopefully assist in the mending process.

I’m overwhelmed. I’m heartbroken. But at the same time, I couldn’t be prouder of this person who is turning into a beautiful young lady, inside and out.

Double Digits

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This kid is going to be 10 in a few days.


In these 10 years, she’s beaten so many odds. She’s doing well. But there are still so many things that she can’t do.


I often think about the conversations we would be having if she could talk. I have them with her regardless, searching her face for answers. But what about the conversations she wants to have? The Tobii is great but it is so very limiting. This child has complex thoughts and feelings. I can see it in her eyes. And those thoughts mostly stay trapped in that amazing brain of hers.


And when I say that Lily is doing well, it’s not like when typical kids are doing well. Doing well for her means that she’s not having significant breathing problems, she’s sleeping (albeit with medication), that she’s still able to walk independently, hasn’t been to the ER in a while and is capable of swallowing food. She still needs 24/7 support as she’s unsteady on her feet, her hands don’t function and she’s nonverbal.


And nothing is linear. Not her growth chart. Not her capabilities. Some days her ability to swallow food gets so compromised that we have to purée her meals.


But there’s good news too. She’s getting taller, she’s gained some weight (over 5 pounds this year alone) and she’s progressing academically (even in a fully remote environment). She also continues to be super cool, super funny and silly and super optimistic.


I say to her every day ‘how did I get so lucky to be your mom? To have such a sweet, smart, tenacious kid!’ I am so proud to call her my daughter. Everyone who knows her will tell you that she exudes love and sunshine and acceptance.
And she’s busting to see all of you in person — to give giggly hugs and have dance parties and make you read her books.


Hopefully we will get the opportunity to see you at some point this year. I’ll try to send more updates through www.blueberriesandgiggles.com as I’ve been off social media for a few months.


But for now, we celebrate a decade of Lily. Ten years have flown by and I want to make damn sure that the next ten are superior to the last.
I wish I could give you a list of things Lily would like for her birthday, but she’s gotten most of the tangible things for Christmas (which was less than two months ago). If you feel compelled to give something, please donate to Rett Syndrome Research Trust as the best gift this kid could get would be a cure. The second best would be something palliative to mitigate her symptoms. Both are being researched right now.


Sending love and health (both physical and mental) to you all.


C

Winter wonderland

Sprinting a marathon

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We have been up here coming on seven weeks. In some ways, it feels like it’s flown by. In others, it seems to drag on. And on.

We are also coming on 7 weeks with no caregiver, full-on homeschooling (which ends up being about 4-7 lessons or therapies a day for Lily) and two full-time jobs that are in the throes of trying to help people through this pandemic. Thankfully we both have some flexibility in our schedules. Stephen is working mornings doing this and I’m working afternoons doing this. As we both manage global teams, our schedules can’t always stick to what we’ve tried to carve out. But we make it a point to participate daily with Lily in her lessons/therapies.

It is more work than any two people should be able to handle or be asked to handle. And as this doesn’t look like it’s ending any time soon, we’ve started to put feelers out there for temporary live-in help.

Don’t get me wrong – we are grateful. Grateful to be spending more time with my two favorite people. Grateful that we are all healthy (or in Lily’s case, healthy-ish), we have jobs, we’ve got a beautiful house to camp out in, and we’ve got a school and an army of therapists who have been working with us from afar to figure out the best way to teach/treat Lily.

But we need help. So I am putting it out there to the universe (i.e., you)… if you know of any college student tired of living at home, wanting to make money and is interested in special needs or maybe you know a therapist or a para-professional or a person who used to be a nanny or caregiver who is looking for a job and a temporary home and wants to spend the next few months living in a private cottage on 2 lovely acres with a swimming pool, taking care of the sweetest, coolest kid in the world, please send them my information so we can talk.

Fingers crossed that the universe will provide.

Take good care.

Love,

C & L and S

A day in the life

Aloha!!

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Lily’s 8th birthday was such a success. In the lead up to her birthday (and the subsequent week), she was ecstatic. Birthday parties, Valentines Day and Hawaii? All in one month? It was almost too much.

But not really – seeing her so happy and (mostly) healthy – especially at this time of year – is such a relief.

We are day 3 into our Hawaiian adventure and this kid hasn’t stopped beaming. Thank you Make-a-Wish! Here are a few shots… leaving for Honolulu at JFK, getting a tour of the cockpit with the captain of the plane at landing, riding a limo (with Urszula), relaxing at the pool/beach and partying it up at a luau! More photos to come.