Understanding cognition in girls and women with Rett Syndrome

In my quest to find an answer for whether or not to do the neuropsych, I came across this recent article.  Here is a relevant excerpt:

It is extremely difficult to evaluate the cognitive abilities of individuals with RTT as these are masked by their motor, apractic and atactic difficulties, which limit normative evaluation. On the other hand, many research projects have suggested that individuals with RTT are able to learn [18-21], and that the learning skills can be enhanced with appropriate motivational factors [18] as well as that learning is sustained after a ‘washout’ period of the learning program has ended [18]. It is also clear today that individuals with RTT can learn new skills [22,23], including literacy [20,21,24], and that learning ability is sustained in individuals with RTT at all ages.
The article is insightful in many levels and the premise is basically that girls and women with Rett Syndrome need intensive and constant therapy/intervention throughout their lifetime to maximize their quality of life.
I’ve seen the positive effects of intensive intervention firsthand.  And there is now some data to demonstrate that Lily is progressing both motorically and cognitively.  For example, her first progress report for the year has come in and it is the FIRST TIME that the teacher at school has indicated that Lily has made significant progress in a few areas.  It is most definitely because she has a Tobii at school now, and that her teachers and therapists are committed to engaging with her through it.

List 6 adjectives to describe the child

So… this whole kindergarten process is quite the ordeal.  It’s like applying to university.  I have to fill out 10+ page application forms and write essays, as do Lily’s teachers.  This is what Lily’s teacher wrote when asked to use six adjectives to describe her:

  1. Sweet
  2. Funny
  3. Dancing queen
  4. fashionista
  5. grumpy
  6. persistant (strong-willed)

That’s my kid!  (And quite possibly it’s a good description of me too!)

Sweet, funny, grumpy fashionista on the run!

Sweet, funny, grumpy fashionista on the run!


Lily has had a fantastic few weeks at school.  She’s been independently using the Tobii at circle time to interact with the teachers and students.  She’s been identifying letters and numbers (through the Tobii).  She’s also been speaking independently… saying things like ‘hurry up!’ and ‘hi!’ and ‘Woo back!’.  The last phrase is a horseback-riding term her hippotherapists try to get her to say when she is asked to stop the horse.  Oh, and Lily has been doing great with using a utencil too to self-feed.  Woot-woot!

Keep it up kid!

Using the Tobii to participate during circle time!

Using the Tobii to participate during circle time!


The importance of genetic testing and Rett Syndrome…

I’ve recently been approached by two families who have concerns about their daughter’s development.  And both have asked me to share our journey to an accurate diagnosis.  If you remember, Lily was given two mis-diagnoses along this journey.  So I’ve decided to dedicate a post for families who are on a similar journey.  if you’re new to this site (you found me through middle of the night googling), please feel free to leave a message below and I’ll get back to you if you have any follow up questions.

Q: I am wondering if you could share with me a little more about your journey to an accurate diagnosis, as well as any providers or evaluations that you felt were significantly helpful?

To me, what was the MOST definite and defining moment for Lily was getting the genetic test results with the Rett diagnosis.  Here are the ‘steps’ it took to get there:

Autism diagnosis August 2012

Lily was talking and social and hitting all her milestones and then BAM.  At around 15-16 months, there was a major regression. The language went away, she became super aloof and disinterested and physically started demonstrating some delays as well.  She was initially diagnosed with autism at 18 months (both through Early Intervention and a private developmental pediatrician).

ESES Diagnosis November 2013

Once we started EI services (she was getting 20 hours of ABA, plus Speech, OT and PT), it became apparent that the autism label didn’t fit.  The words started to come back (and then go away – which is still happening).   She came out of her shell and was social and interested in the world around her again.  We then had a bunch of EEG’s done to try and figure out the underlying cause of her regressions and found out she had a rare form of epilepsy called ESES.  And we thought ‘aha! this is what is causing her regressions’.

Rett Syndrome Diagnosis January 2014

But while she was being treated for the ESES (using high doses of steroids that I had to inject into her leg every day which totally sucked for us both), we got the genetic results back (which we did to see if there was an underlying reason for the ESES).  Rett Syndrome was confirmed.  All her doctors (and she has many) were surprised with the results as she didn’t fit the ‘Rett girl’ profile.  She walked, she had some hand function and she wasn’t having seizures (though she does technically have epilepsy and has epileptic episodes which I’ve been told are NOT seizures).

Q: Who did you work with to get the Rett diagnosis?

The geneticist we worked with was Dr. Marion at Montefiore in the Bronx.  And what was especially great about being at Montefiore was that there is a Rett Clinic there (the only one in the tri-state area, led by Dr. Sasha Djukic) so we were already in the Montefiore system.  It also helped in terms of scheduling doctors appointments as the Rett clinic is open on Fridays and we now just go there once a year and see anywhere from 2 to 5 specialists in a day instead of going back and forth to the hospital to see all the different doctors.
Q: Where are you today?
A Rett diagnosis sucks.  But you learn to live with it.  And knowledge is most definitely power.  I know what I’m dealing with and I can better prepare myself and my child for the road ahead.  And by the way, it’s mostly a happy road we walk.
Q: Is she on a special diet?
Lily has been following the GAPS diet for the past two+ years (though she has pizza on Fridays at school) and is on the growth charts which I believe is because of the healthy foods and supplements she takes (many girls with Rett start to fall off the growth charts by the age of two).  She sees a nutritionist regularly.
Q: What types of therapies does she receive?
She goes to a private special needs preschool where she receives numerous therapies, and has an augmentive communication/speech generating device that she navigates with her eyes (think Stephen Hawkins).  It is called a Tobii.  Actually she has two Tobii’s – one at home (which we own and were able to procure through the EI program) and one at school (which took a year of advocating through the DOE CPSE program).
Here are the services she receives through the DOE, on a weekly basis:
At school:
  • 1:1 para professional for health and safety reasons (this is imperative: our girls cannot self defend)
  • 5×30 Speech Therapy
  • 4×30 Occupational Therapy
  • 4×30 Physical Therapy
At home (she has a ‘dual recommendation’, sometimes called an RSA, and is supposedly impossible to get through the DOE):
  • 6×60 SEIT (Special Education Itinerant Teacher)
  • 3×45 Speech
  • 3×45 OT
  • 1×45 PT
  • 4×60 Assistive technology services (so that the home speech therapist can program both Tobii’s and upload course curriculum to them so Lily can follow along in class and participate).
On the weekends she goes horseback riding through the GallopNYC program and is loving it.
Yes.  It is a lot of therapies.  And yes.  It was not an easy decision to put her in to all of these therapies.  But the proof is in the pudding:  My kid is thriving.
We live a mostly happy, and always busy life.  Yes.  It is possible.
Happy Girls, Halloween 2015

Happy Girls, Halloween 2015

Not a victim

As you know, a few nights ago there was a fundraiser for Rett Syndrome here in New York City.

For this years event I brought along Lily’s team of home therapists as they are the driving force that helps my kid maintain, and gain, basic skills. And they are so deserving of a fun night out.

A mighty team!

A mighty team!

And we had a fun time! What made it even better was that my brother Matt came to the event (he was up in NYC for work this week). But… But… The word ‘victim’ was used to describe girls with Rett syndrome during a speech. And wow did it rub me the wrong way.

My child is not a victim. She is an amazing individual who overcomes – on a daily basis – obstacles that would be unimaginable to most. I see her as a hero. I see all our Rett sweeties as heroes.

I know that the presenters of this speech were not meaning to offend. I wish they would have spent more time focusing on all the amazing things our girls can do and all the wonderful things they teach us. How they inspire every single person they meet and how they light up the lives of their families and friends. That would have been the perfect thing to hear.

Anyway… Thank you to those who contributed to the event. Every dollar brings us one step closer to a cure. And we are so close!

I wonder where Lily gets her silliness from?

I wonder where Lily gets her silliness from?

The many faces of Lily

What’s a girl to do when she wants to be two very different characters for Halloween?

Luckily we had two days of celebrating. So on Friday she was Elsa at the school Halloween parade. And then on Saturday she was Elmo while trick or treating with her cousins in New Jersey.

She was adamant that she wanted to be Elsa, and Elmo for Halloween!

She was adamant that she wanted to be Elsa, and Elmo for Halloween!

She had so much fun walking up to the doors, showing off her costume and choosing the candy she wanted from the big bowls that were put on display for her.

Mommy is bringing the candy Lily collected from Halloween into the office to share with her colleagues. But fret not dear reader! Mommy isn’t heartless. Lily has plenty of Lily friendly candy (organic dark chocolate peanut butter cups) to keep her happy, courtesy of Grandma and Teetee Angela.

And oh did she love those peanut butter cups! At one point on Saturday, we took a break from trick or treating and helped our cousin Don hand out candy. Well Lily wanted some of her candy and she gobbled it up. About 20 minutes later she got a second wind and we went for a run around the block. She was on a pretty big and happy sugar high. I’ve never seen her run so fast, and for so long!

Halloween is Lily’s favorite holiday. It’s becoming mine too!