Tag Archives: Rett Syndrome

Lily’s cake manifestation

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Yesterday Lily came home and was a bit cranky. So Urszula heated up the leftovers from lunch and they sat in front of the Tobii, chatting while she ate. 

Lily immediately went to the baking section and rattled off the following things:

Baking powder

Sugar

Lemons

Cocoa powder

Mixing bowl

Baking dish

Vanilla extract 

Butter

Salt

And every time she mentioned one of these words, I grabbed the item from the kitchen and put it in front of her. It made her so happy and giggly. 

By the time Elaine (Lily’s speech therapist and good friend) arrived, we had a table full of baking stuff so the two of them worked on finding a recipe that fit the above ingredients. And the entire session was about measuring and mixing ingredients – part math, part science. Lily quickly got frustrated with the process as she wanted chocolate lemon cake immediately.

So Elaine and I finished up. I popped the cake in the oven and once it cooled, Lily was so excited to FINALLY eat a piece. It was delicious!!

Unfortunately for Elaine, she had already left by the time the cake was ready and I’m not sure there will be any left for when she comes back on Tuesday. 😆

Here’s the recipe.

And here’s a photo montage from 2016 of Elaine and Lily baking together in our old Brooklyn apartment.

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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

Adventures with Mom

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Yesterday Lily didn’t have any therapies after school and Urszula had the day off. AND the weather was nice. A rare opportunity presented itself to me: taking my girl on an outing with no real agenda.

We walked up Columbus Ave to window shop, popping in and out of stores she wanted to explore. Once we hit 72nd, we went east to Central Park—Strawberry Field to be specific—where we listened to Beatles cover bands for a while.

Right now we are all a bit Beatles crazy in the house. So I’m not surprised my subconscious brought us to Strawberry Field. While there, Lily confided to me that Paul is also her favorite. (Sorry Auntie Angela – I was with you for a long time about John but after watching the Beatles documentary, I’m all about Paul!)

From there we walked through the park down to 67th. And then stopped off at a bookstore as I’m trying to find a book or two of poetry for her as I think she’d really enjoy it. We didn’t find a book but she loved exploring all the different sections, especially the photography books.

From there, we made our way back home.

It was quite the adventure and Lily didn’t tire at all – though I did a few times and so we would sit and people watch. She was smiling and happy throughout. And so was I.

#citygirls #uws #centralpark #beatlemania #rettlife

2.22.22

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On the socials, everyone was posting that it was going to be a magical day. 

I had high hopes for it as well. Not because of some particular date.  But because I was finally going to spend one full day with Lily – no caregiver, no Stephen – just us two girls, like how it used to be years ago. We were planning to buy her a new spring jacket and then head over to the history museum.  A girls day. Get dressed up. Put on some makeup. Have some fun!

I was extra excited because it was the first time in a long time that I was feeling confident about going out with her alone. No stroller (that she doesn’t fit into anymore anyway). Just reliance on our legs and public transportation (and maybe a taxi if we were in a pickle). 

The morning started off easily enough. Stephen got her ready for the day while I ran down and trained at our gym with a guy whose teaching me the Turkish getup (look it up – it’s legit). Once upstairs, Stephen headed off to work. I pulled up all the trip hazards (rugs) in our bedroom and Lily chilled in there listening to music while I took a quick shower.  Once I got out, I started talking to her about our adventures for the day. She was very excited. And was following me around. I started to put some makeup on in front of the hallway mirror and she ventured off into the bathroom to look in the mirror there. Then I heard a thud. 

And that’s when the day fell apart. Lily somehow tripped and fell into the tub. She semi-caught herself with her hands. But she still managed to bang her mouth. 

The screaming was delayed. And that’s when I knew it was really really bad. 

There was lots of blood coming out of her mouth and her two front teeth were nowhere to be found. 

Thankfully there were no broken bones. I called Stephen to come home. I called the dentist to tell her we are on our way.  None of this I remember very well. 

The rest of the day was a blur of blood and screaming and crying (including mine) and holding her so tightly and Stephen taking care of us both, keeping level-headed and calm as I was feeling anything but. 

I guess the magic of yesterday for us was that she didn’t lose her teeth. They got pushed back into her gums. Hopefully they will come down naturally. But if they don’t, she’ll need surgery. We go back to the dentist in 2 weeks to check in. And then another 2 weeks to decide about surgery. 

For the most part, Lily is well; she’s got a fat lip and a huge gap in her mouth. But last night and this morning, she was smiling and giggling. 

It’s going to take a while for me to find a place of peace. My confidence as a mother and a caregiver is shot. My heartbreak and grief over what happened to her on my watch feels insurmountable. 

But I will push forward. For her. For me. For Stephen. For us. 

This is my grief. Not hers.

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

Day one of x???

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Wild times. Unprecedented times. For everyone.

And I hope you are all taking the necessary precautions. We are. Yesterday we drove up to our house in Connecticut packed with food, clothes, books, computers. Spent the day settling in. It is truly beautiful up here. And to be able to go out, smell the fresh air and see nothing but nature, that is a real gift.

These photos from yesterday depict one of joy and calm. And during some parts of the day, it was true. For others, not so much. Lily really misses school and her friends. I miss going to work, as does Stephen. We were trying to juggle it all yesterday, and without any support. It did not all run smoothly.

I have two immediate concerns – the first is that it has been years since I’ve not had daily support for Lily. She needs a lot of supervision and guidance. She can’t run around unaccompanied or sit there and play with her dolls, or play a game on her iPad or whatever it is that typical 9 year olds do. The other is also related to Lily. It’s been years since she’s not had intensive, consistent therapy. In a typical week she has at least 20 hours of direct treatment – occupational therapy, physical therapy, speech, etc…

To sum it up: I’m most worried about my capacity to care for her WHILE ensuring that she maintains the skills she currently has. And working full time.

Thankfully we’ve got Stephen. We are very lucky girls. And I know that he and I will create a new norm – one that will work for us all. It is not going to be easy. Nor will it always go well. But together we will do our best.

Oh, and then there’s this whole pandemic thing. Health risks, massive disruptions to the community. As someone who has spent the last 8 years living in a state of near-constant panic, who has fought for basic rights, who knows that each day can bring a terribly scary turn of events, I’m empathetic to everyone who is now dealing with these feelings. It is not fun.

But we will get through it.

Sending health and peace of mind and abundance to you all.

Love,

C & L & S

Highlights from a very interesting day in the country…

Another year, another trial

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Happy (belated) New Year. 

This kid never ceases to amaze me. She went through so much last year and yet these are the smiles that we get. (See above photo for reference).

Last year she struggled with so many things such as: increased breathing issues, weight and height issues, mobility issues, challenges with her classroom setting and massive dental issues.  The last two problems thankfully were something that were relatively straightforward and remedied. The others, not so much. 

Regardless – when I look back at last year, I see it as a success. We had so many amazing adventures – from going on a Make-a-Wish trip to Hawaii to visiting our family in Florida to buying a weekend home (that has a pool!!!) to having the support that we need to manage our day to day (which is much more than one could imagine) and many other big and small wonderful things in between. 

Another important milestone she hit last year: Lily finally broke the 40 pound mark. She had been stuck at 37 lbs for over 3 years. We still have a ways to go to get her to a better weight, and we may never get there. But I’m learning to make peace with it as best I can. She doesn’t seem to mind. 

This year we have so many things to look forward to and be hopeful about. This kid is loving school, embracing her after-school therapies and is becoming much more vocal. We are seeing a lot of monosyllabic words shouted at the right times, often in cheeky manner. She’s been using her right hand relatively consistently to give a gentle pat or a hug (which is absolutely heart-melting if you happen to be the recipient).

And she’s starting one of three trials that are happening for kiddos with Rett this year. It will mean a lot more hospital visits and tests, but we are hopeful that this medicine provides her with some much needed relief. Even if I see a 5% reduction in her tension, anxiety, breathing issues, I’ll be happy with the outcome. 

And she is going to be 9 in less than a month. How is this possible? I had hoped that by this age, there would be a big breakthrough to ease the god-awful things that Rett Syndrome brings.  But we’ve not had any success. Yet.

I will never give up hope that things can get (even marginally) better for her.  If you were considering a birthday gift, the best present you could give her would be to support RSRT which is working towards helping kiddos with Rett. So if you are so inclined, you can donate here.  It all goes to the same place. Thank you in advance.  Love and peace and giggles.

THE CUTEST!!!!!

It takes a village

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It takes a village – literally – to get this kid places. Trick-or-treating is just one example. Below are a few photos of behind the scenes efforts, and a few cute ones of her thrown in for good measure.  

Lily wanted to love Halloween, and we did get a few smiles from this cool cat. But there was also tears and exhaustion and not having the energy to walk at times.

We are both so lucky to have so many angels on earth helping us, and they came out in droves on Halloween!

So we went trick-or-treating New York City style, up and down the streets of Columbus Avenue and through the cross streets that go all out with decorations (west 68th and 69th Street FYI). It was an exhausting, but mostly fun time and we got entirely too much candy. Come over and help us eat it before we turn to sugar cubes! 

Never-ending attempts for normalcy and fun memories