Participating

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!

 

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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

A good week indeed

Lily came home from school today in such a great mood!  Likely because today was the first day that she had a Tobii at school (which took a year of advocating). Using the Tobii, she told her teacher today that she loves her cousin and grandma and that she wants to go home and play with the nanny.

A good week indeed!!!!  My kid has a voice at school.  Finally!!!!!!!

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