Rett Syndrome and a pandemic don’t mix together well

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

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

Swimming like a mermaid

This week we’ve been down in South Florida visiting family and friends. We’ve been able to accomplish so much in such little time… like mommy getting to see not one, but THREE of her high school friends. And of course spending as much time with our family as we can. And swimming. And eating. And having dance parties. And swimming some more.

The weather has mostly been sweltering. But it hasn’t stopped this kid from picking up new skills in the water. She is doing all sorts of amazing things independently in the pool. And the ocean (with the courtesy of her swimmies). Here are a few shots from our visit.

Happy summer!

Love,

C & L

Better and different

Last Friday was a pretty big day for us girls. You already caught a glimpse of Wonder Woman and heard that she was having a tough morning. But so many other things happened on Friday.  Even though this kid was feeling like crap in the a.m., she still made it to a dentist appointment.  She was brave, but man she hates going to the dentist.  Who doesn’t?

Then it was to school for super hero day, then PT and afterwards, I took her for a haircut.

She’s been wanting, and needing one for some time. And a few weeks back we had an appointment, but that was the day Lily fell at school and had to get 4 staples to hold her scalp together. Oh, that was a fun day indeed. However, I digress…

As many of you may know her hair is quite a topic of interest. We have had many conversations and even more debates about what she wants to do with it. For a while we were creating a weekly hair menu where she would plot out every hairstyle for each day of the week (see below).

But the debates about her haircut were always the most interesting. She would tell me, incessantly, that she wants bangs and short hair. To which I would reply, ‘short hair in the summer isn’t a great idea’ and wax on as to why. Her response was always quite diplomatic, ‘I can see your point’ she would navigate to on her Tobii (completely independently I must add); not that she agreed with me, but that she understood my reasons why.

In the end, she won. Mainly because the person cutting her hair cut it much shorter than was discussed. But Lily has been so pleased with the result.  She told her teacher yesterday that her hair is ‘better and different’. Why yes it is, smart, sweet, stylish child of mine.

Aloha!!

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.

Lily’s luau birthday bash

This kid turned 8 today. Can’t begin to explain how proud I am to be her mom. In anticipation of her upcoming Make-A-Wish trip to Hawaii, we celebrated with a luau!

The party was a success. It started with a ballet class taught by New York City Ballet (check out Lily independently getting her feet into 5th position in the second set of photos) and then the luau at school with pizza, cupcakes, giggles and dancing. Lots of dancing!!! After school we had a play date with her friend Xan, followed by dinner at her favorite restaurant. And then we went home, exhausted, full and happy.

A friendly reminder

Please don’t tell me you are “sorry”. When you find out someone’s child is disabled (i.e., has Autism, Rett syndrome, Down’s syndrome, etc.) do not say you are “sorry” – we understand you mean well, but it is incredibly upsetting to hear. Our child is still our child. She has not died and we are not at all sorry she exists. We are madly in love with her. As you are with your child. Every accomplishment, development, laugh, makes our hearts sing! Just as your child’s accomplishments, development, happiness, makes your heart sing. Every tear she sheds breaks our hearts. Just as your child’s tears breaks yours.

Granted, ours is not a life we likely would have chosen. And we have had to drastically shift our expectations (like continental – tectonic plate shifts). And we have had to come to terms with a life completely different than the one we had expected to lead. And it is a challenge. And it is not one we would ever expect you to understand. And it is not one we would ever want you to lead…it is hard. And we are NOT sorry. Our child gives us unspeakable joy and you saying you are sorry about her is heart breaking and painful to hear. We only wish you could see her as we see her and enjoy her as we enjoy her…So do not tell us you are sorry.

Just that.

Lifted, almost verbatim, from Jocelyn Gould Turken, super Mom and autism advocate. ❤️

Lily was featured in this years NYC Disability Pride Parade. This kid is making headlines. And changing perceptions about what it is like to live with a disability. She is my hero.

As time goes by

Lily and I just got back from a week in Florida visiting our family. It was a good trip. But a tough one. It’s not as easy to travel with her now. She’s bigger. Her symptoms have evolved. And caring for her has gotten more complex.

I’m exhausted. Lily is too. But damned if we’re going to let Rett Syndrome keep us away from our family.

Here are a few photos of our vacation. There were a lot of smiles. But there were definitely a lot of tears and frustration and really hard days and very scary moments too. They just don’t make for good pictures. So I’m only going to share the happy ones.

I’m also going to share an article from another special needs mom who writes about the isolation and exhaustion that comes with being on this path. Thank you Amy from Raising the Extraordinary for so beautifully and eloquently explaining what this journey is like for us moms.

And thank you Florida family for loving and supporting me and my girl so very much.

Stronger

The past few months have been extremely stressful so writing posts has not been a top priority.  However, I didn’t want to leave you hanging for too long.  I’m proud to say that Lily has been showing improvement in many areas.  Her appetite has come back (for the most part), her peeing has normalized (for the most part) and her gross motor function/walking has also returned (for the most part).  Her breathing is still an issue though that too seems to have gotten better.

I have been obsessed – OBSESSED – with her caloric intake.  And I’m pleased to say that a steady diet of pizza, cheeseburgers, hot dogs, rice pudding and vanilla yogurt coupled with her morning smoothies (which has a pediasure base and some raw veggies that I slip in) has helped her fill out and get stronger.  She still has more weight to gain but many days I’m finding myself not completely stressed and uptight about her eating.  It’s helped that most days she’s opening her mouth for food and is genuinely interested in eating again, though her former diet of uber-healthy food has screeched to a halt.  Whatever.  The kid is eating.

But I can’t completely relax.  We still have days that are difficult for her.  Really difficult.  Heart-breakingly difficult.  And I’m trying to shake the hangover of what she went through these past few months but I can’t completely.  Rett Sydrome is always lurking around and we just never know when it will pounce.  I can’t make this the focus of my attention as it will destroy me.

So I remain in hope.  And there’s good reason.  Last month two significant announcements were made about Rett research.  One was regarding a research trial on a drug that ameliorates a handful of painful symptoms in our girls.  And the other was regarding the path toward a cure using gene therapy.  Awareness-raising and fundraising are now more important than ever.

Until the cure comes, us warriors will continue to battle against the day to day struggles of Rett Syndrome, and we’re going to do our best to have as much fun along the way.

Love,

C and L

 

Spring Break 2017

Spring Break 2017 in South Florida with Grandma and her cousins!

Celebrating Lily’s birthday

On February 8th, Lily is going to be six years old.  In honor of her upcoming birthday and my unwavering desire to obliterate Rett Syndrome, I will match up to a total of $1500 donated to her RettGive.org page between today and the 8th.

I’m so proud of this kid – she literally smiles in the face of adversity. I see it every day when she’s struggling to stand, walk or breathe.  I see how hard she works to do – well – almost anything right now.  I pray for the day when Rett Syndrome will be just a painful memory.

For those who have already generously donated… from the bottom of my heart, thank you! Your support and love is palpable.  For those who’ve not gotten around to it yet, or don’t feel that giving $10 or $20 will make a difference, believe me when I say that every dollar counts.

Lily is the bravest, sweetest, smartest, hardest working almost 6 year old that I know. And I know that one day in the near future she, and her Rett sisters, will be cured.  But without funding, it will remain a pipedream.