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.


We have food on our faces!


Hopefully this is the last of the spa treatments for the week, a supposedly nourishing mask of oats, yogurt and honey. You see Lily and I spent the past two days in the hospital as she was finishing up the clinical trial on statins for girls with Rett Syndrome. The results will be published in August and it looks promising for some girls.  Thankfully we didn’t have to do a sleepover for this wrap-up but regardless, driving to and from the Bronx on Thursday and Friday was exhausting enough.

On Thursday she only had one ‘spa treatment’ – the breathing study which consisted of attaching 20 leads to her head, three straps around her torso, and one lead on her piggy. The set up wasn’t too difficult and it went rather smoothly. But then we had to sit there for three hours. I had to make sure Lily didn’t move around too much, or fall asleep. It was physically demanding for us both. We made the most of it – watched a few movies, read a few stories, and I even managed to give her a real spa treatment – a pedicure!


Afterwards I took her for a celebratory lunch and a stroll at the Bronx Botanical Gardens. Mommy had a glass of wine while Lily socialized with the other diners.


Friday we were back at the hospital bright and early. Lots of ‘spa treatments’ this day.  She started out with a blood draw. Brave kid didn’t even flinch when the phlebotomist put the needle in. Then we had an hour-long session with Dr. Sasha to talk about Lily’s emerging anxiety, her increased clumsiness, and her ongoing sleep issues. What many people don’t know about Rett Syndrome is that it is continuous and relentless. And my poor sweetie is struggling a lot.

After talking to Dr. Sasha and having Lily do a cognitive test (which thankfully was not at all invasive), we made our way down to the dungeon for the EEG.


The test itself was only 20 minutes long. But it took over an hour to get all 27 leads on her head. The technician was an amateur. However, Lily was a champ throughout. We were giggling and telling stories and listening to music. I told her I would take her to the zoo afterwards if she wanted. But she was so tired after the EEG that we just made our way home.


Once we got home, she had a few therapy sessions (she needed help with movement after being sedentary for such long periods of time). We had pizza for dinner. It was pizza Friday after all! However her appetite just wasn’t there. She managed to eat a few bites. Then she took an hour long bath, soaking the hospital visit out of her pores while mommy cleaned –  yet again – the glue out of her hair.

We spent the rest of the evening cuddling in mommy’s bed watching Mary Poppins. It was a struggle to get her to fall asleep (which is unfortunately the norm), but eventually she did and she slept through the night!

When she woke this morning, she had an angry looking rash all over her sweet face. I’m sure it’s all the tape and glue and alcohol and leads that has aggravated her skin. I have to go to the pharmacy later to pick up some calamine lotion because my at-home spa treatment did nothing for her.

And there’s another reason to go to the pharmacy today – I’m picking up her latest sleep medication. Hopefully this one will work. Us girls need our beauty rest, especially after this past week.

Join me on November 2nd in NYC to celebrate our amazing Rett sweeties

image In my spare time (!), I help raise awareness and funds for Rett Syndrome Research Trust (RSRT), an organization that is near and dear to my heart. Prior to last January, I had never heard of the organization, but since then, they’ve become a crucial part of my life, and my hope for my daughter’s future.

As you all know, Lily was diagnosed early last year with Rett Syndrome. It’s not a high-profile diagnosis, but it is a devastating one. Rett impacts 1 in 10,000 girls and women, and most are wheelchair-bound by the age of 2.

Lily is one of the lucky ones. This year alone, she has lost – and then regained – her ability to swallow and use her hands purposefully. She walks (or runs!), has some hand function, and doesn’t need a feeding tube. She’s also making HUGE progress in her communication skills, with the use of specialized eye gaze technology.  I want to thank you for taking part in this journey with me.  Your support through this blog – both near and far, is indescribable.

I also don’t know what I would do without her army of therapists and doctors (at last count there were over 25). They have become like family to me, as have my friends at RSRT.

Sleeping peacefully during an EEG yesterday at the hospital.

Sleeping peacefully during an EEG yesterday at the hospital.

This organization has made remarkable progress in advancing research on Rett Syndrome. A few years ago, approaches attacking Rett at its genetic root were not possible. Today there is scientific evidence that gene therapy could offer an effective way to treat – or even reverse – the disorder. RSRT is spearheading an ambitious gene therapy project to make this possibility a reality.

But we need your help to continue this scientific momentum and to support more research projects. I hope you can join me this year at the RSRT’s 7th annual Reverse Rett fundraiser to celebrate our girls and help work towards making their fugures even brighter.

Please click here for details. I hope to see you there!  If you can’t make it, please consider making a donation – any amount, small or large, helps us get one step closer to a cure.

Thank you.

A week at the hospital

Happy new year. We’ve been busy girls. At the hospital since Monday. Don’t know what day today is. But I think we can leave on Saturday. I really hope so.

We are making the most of it. I keep telling L we are on vacation – at the hospital!

Started the steroids a few says ago (to treat the ESES – a rare form of epilepsy she got diagnosed with the last time we were here). Today was my first time giving her an injection. She didn’t cry. But I sure did. My sweetie.

I’m hanging in there. One of my best friends from grad school was here with us the first two days and then the nanny came for a visit yesterday. John’s been popping in and out.  So I’ve been getting some breaks here and there. Today a friend is coming who I met at the ashram over New Years.

Exhausted. But L is doing great.

Please keep sending positive vibes this way.

C & L

ESES? Huh?

Many of you know that Lily was in the hospital last weekend for a scheduled 48 hour EEG (which turned into a 72 hour EEG).  Her developmental pediatrician and her neurologist (yes, she has both) recommended it to rule out seizures.  This is common practice for children who have a regressive form of autism (i.e., speaking and developing normally, then not – which is Lily).    I thought we were going in to just check a box.  My kid doesn’t have seizures!
Well, she’s not having seizures.  BUT she does have a rare form of epilepsy (1% of the population), in the form of having frequent electrical discharges (as much as 80% in her sleep and also sometimes while awake).  Which in medical terms is phrased ESES – electrical status epilepticus in sleep.  And in non-medical terms is phrased ‘Penelope Syndrome’ for the tale of Penelope, who weaves all day long and then when she falls asleep, it all unravels and she has to start again.
This could help explain why, after over a year of 30+ hours a week of therapy, my baby still isn’t talking.  She’s super smart (and the sweetest and bravest little thing ever) but yet her words come and go.
This also could mean that Lily doesn’t have autism.  But this new diagnosis is also no walk in the park.  The only known treatment for this is medication.  I’m not excited about putting my two year old (almost 3) on meds but I’ve read that this could be life-changing (with a lot of therapy still) for her.  Or not.  But I’m going to stick to the former.
We have numerous appointments over the next few weeks (on top of her scheduled therapies) to find out more.  I was able to find one of the only pediatric ESES specialists and make a relatively quick appointment with him (often-times, it takes about 6 months to get in with specialists.  We only have to wait 2 weeks).  Keep us both in your thoughts and prayers,
Lastly, I’m not a bible-reader but I came across this quote.  For Lily:
 “She is clothed with strength and dignity, and she laughs without fear of the future.”  Proverbs 31:25
C and L
Thanksgiving Dinner