Summer, on a spring day

What a day we had today! It started at Central Park where we were meeting my grad school friends to celebrate our 15 year SAIS Bologna anniversary (for those of us who live in NYC and who couldn’t make it to Bologna).  It was a hot and muggy morning. But Lily and I had a great time catching up with old friends and

We spent four hours in the park – eating, dancing, singing, crashing other people’s parties and listening to live jazz. On the way home I took Lily for a late lunch to Playa Betty’s (her favorite restaurant on the UWS) and then we walked over to Riverside park. You see, we were on a quest to feed the birds. This is something she requested to do earlier in the week. Alas, no birds were to be found. But we will try again tomorrow.  I hear we may have another day of summer weather.

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.

Feeling grateful, and sad, but mostly grateful…

Hi family and friends,

Sorry for the long silence.  It’s been a very busy few weeks.  Doctors visits, preschool visits, a quick trip to London (just me, not L), and the general busyness of my job and life with Lily… time seems to slip away.

But at least it’s spring!  (I’m going to ignore that it’s supposed to snow on Tuesday).

Lily has been great.  She is going through a really strong phase where she’s not having any troubles holding her bottle, or pulling herself up to stand (which she did twice yesterday on my friend Stefanie’s cushy sofa – I was awestruck).  She’s trotting around (almost running) and going on long walks with her momma through the park.

To many of you this may sound like silly things to be proud of.  But for Lily, especially given her Rett diagnosis, these inchstones* are miracles.  Truly.

(*This is a commonly used special needs momma phrase.)

On March 7th, we met with Dr. Sasha Dujkic, a neurologist who has dedicated her life to Rett Syndrome research and advocacy.  Dr. D spent three hours with us that day.  Can you believe that?  A doctor who spends hours with you, talking to you, answering your questions, explaining to you this complex genetic disorder…. have you ever heard of such a thing?  (Other than my cousin Ann, of course!)

There was so much to take in that day…  I’m still wrapping my head around it.   Will try to share with you the highlights:

  1. An overwhelming majority of girls with Rett Syndrome can’t walk, talk or use their hands in a meaningful way.  Most need feeding tubes and many have respiratory issues.
  2. After Dr. D evaluated Lily, she said that Lily is likely done with the major regressive phase and that she will continue to walk (horrah!) and that her overall health looks great.  There is a list of about 10 specialists who work at the Rett Center (from orthopedic surgeons to cardiologists) and Dr. D said that Lily won’t need to see the majority of them.  HUGE sigh of relief.
  3. I asked about Lily’s specific mutation and if Dr. D could read anything into it (I had heard from other Rett mommas that you could get a better understanding the impact of the disorder on your girl from the actual genetic mutation) and Dr. D said that this is pretty inconclusive.  And then explained that Lily has the more severe form of the mutation which for all intents and purposes would mean that she would have the ‘classic Rett’ (no walking, talking, meaningful hand use) but it hasn’t presented that way with Lily.  Theory squashed.
  4. Dr. D said Lily will likely never talk or write.  This is where the doctor and I disagree.  This little girl is going to talk and she is going to write (you should see some of the art she’s been creating lately!).  Dr. D doesn’t know me…  Obviously.
  5. The big struggle with all girls with Rett, including Lily, is the issue of apraxia.  Whole body apraxia.  What is apraxia you ask?  A very good question, and here is the answer:
    Apraxia (from Greek praxis, an act, work, or deed) is the inability to execute learned purposeful movements, despite having the desire and the physical capacity to perform the movements. Apraxia is an acquired disorder of motor planning, but is not caused by incoordination, sensory loss, or failure to comprehend simple commands. It is caused by damage to specific areas of the cerebrum.
  6. Apraxia impacts everything from her ability to form words to her ability to poop, and everything in between. She has the desire to do it all and actually has all of the ‘hardware’ to do it, but her brain and body aren’t talking to each other effectively.  It’s more of a ‘software’ issue, to use computer terminology.
  7. Girls with Rett Syndrome are literally trapped in their own bodies.  They often have overly intelligent minds. And Lily is  just so smart.  I’m not just saying this because I’m her mom.  Therapists and doctors have said this from the very beginning about her.
    So how do we tap into this brilliant mind of hers?  Well, assistive eye gaze technology is something she was exposed to at the hospital visit, which she took to quite quickly.  My cousin Maria (who graciously came with us to the appointment) told me that within 5 minutes, Lily was asking for blueberries, using her eyes!  Pretty amazing.

Next steps with the Rett doctor – schedule a visit with the following specialists – GI doc (for Lily’s chronic constipation which is typical of Rett sweeties), dentist (she needs a cleaning and they have a dentist on staff there as dental issues can arise for these sweet girls), and speech therapist (to learn more about the eye gaze technology and other forms of communication).  Also Dr. D has offered to speak to the directors of the preschools Lily may attend.  It will be very important for Lily to be in a setting with verbal, social kids.  Lastly, we will have a follow-up appointment with her in 6 months.

In the meantime, Lily and I will continue to learn, giggle and eat lots of berries!

Love,

C and L

Springtime 2014

Inspiration

The below poem was written by a young woman named Gaby Valner who has Rett Syndrome.  She also has a blog and has been published in the huffingtonpost.com.
A Mind Comes to Light
From the foggy deep,
A mind chained and bound
Finds the light, a flickering dim glow.
To add to the infant flame
the mind uses kindling –
Knowledge, books;
soon, a fluorescent glow burns bright.
From the foggy deep,
A mind emerges.
I’m filled with such hope, reading about this young woman’s life, her struggles, her joy.  And it makes it feel that much more of an imperative to find the ‘perfect’ preschool for Lily.
I’ve toured one school so far – and have been blown away by it (not just because of their indoor sensory gym and location!).  There are a few more tours coming up these next weeks… So many places are already full for September.  Here’s a link to the school which is on the top of my list (for those interested!):
Fingers crossed that we are back in Manhattan in the fall!
We have another busy week ahead of us.  Lily’s 3 year check up with the pediatrician is on Tuesday, the follow-up with her neurologist is on Thursday and the much-anticipated visit to the Rett Clinic is on Friday (which is likely to be a 3+ hour appointment).
This kid knows how to keep her momma busy.
The progress that Lily has been making lately is awesome.  She’s so much stronger on her legs – she’s been running down the hall, pounding those little feet on the floor, while giggling.  She’s dancing (even doing assisted spins!) and she’s so much more interested in her surroundings (you should have seen her face yesterday when we were driving home from New Jersey – she was mesmerized by all the lights, and especially the Holland Tunnel).
However, her ability to meaningfully use her hands is not going as great.  It’s getting harder and harder for her to hold her bottle.  But you should see her throw a ball, or spike a balloon.  The pride she has on her face when we’re playing together is priceless.  (I’m sure the pride on my face is priceless too!)
Here are a few photos of us from the past two days.  Desiree (the nanny) and Hamida (the speech therapist) both called me out for dressing us in the same outfits.  This was truly unintentional.  But I am my father’s daughter after all.
Image
Sending love,

C and L

Lily’s a featured angel on the Int’l Rett Syndrome Foundation site

She’s going to be 3 years old and has had 3 different diagnoses.  The last one (Rett Syndrome) combines the first two (autism and ESES, pre-epileptic activity) and adds a few more.  But regardless…. she’s still the best.  Ever.

We are heading to the hospital tomorrow and will be there for her birthday, but will celebrate it in style.  As always.

Check out her profile here:
https://www.rettsyndrome.org/news-and-media/irsf-features/featured-angel

And there is NO need for gifts or anything of the sort for her birthday.  If you feel so moved to do something, you can always make a donation (large or small) to the IRSF.  They’re amazing and have been so helpful for us these past two weeks.

https://www.rettsyndrome.org/make-a-difference/donate-now/donate

Love,
C and L