Graduation!

I’m such a sucker.  Of course I had to buy the ridiculous preschool graduation photo.  I mean, it’s the cutest thing in the world.  Second to her class photo, which was taken only a few months befimageore.

It’s been a quick two years for us.  Lily has grown so much, both physically (at least 5 or 6 inches) and intellectually (see next blog post).  We’re going to miss that little cocoon of a preschool.  The teachers, the para, the therapists, even the administrators, are all amazing there.

And I was so touched when the principal asked me to give the preschool commencement address.  I wasn’t quite sure what I was going to talk about but I knew it had something to do with all of the wonderful people I have met, because of Lily.  Thankfully my little speech went off without a hitch.

However, the run-up to the graduation was touch and go.  I wasn’t even sure Lily was going to be well enough to attend.   A week or so prior, her appetite went.  Her sleep meds stopped working (again).  She started having severe panic attacks.  And she was getting clumsier and weaker.  It was a scary period.  The morning of graduation, I wasn’t sure whether to take her to the ER or to school.

Thankfully she woke up that morning feeling much better.  She even managed to have a little bit of her smoothie.  Shamekia (her beloved nanny) met us at our home that morning and helped us get to school.  Lily did not want to miss graduation.  She had practiced so much.  And you should have seen her up on that stage, dancing and laughing and feeling like a star.  It was a beautiful sight.

I’m so glad she went because she had such a fun morning.  She was surrounded by all the people that she loves – her mommy, her nanny (mommy #2 – in the yellow dress), her para Urzsula (mommy #3 – in the striped shirt), her daddy, teachers and therapists, past and present and all of her school friends.  She had a blast.  And thankfully she started eating and drinking again that day.  And from that day forward, she’s been getting stronger and stronger.

We’re still struggling with sleep.  And the panic attacks come and go.  But damned if we’re not going to have the best summer ever.

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A different kind of learning

Lily continues to impress both her home-based and school-based teachers and therapists (all 15 of them). This kid is super smart and silly, and most days she’s doing amazing things with communicating on the Tobii. Just the other day she had a conversation with her home teacher Denise to tell her that she was ‘angry’ and ‘greedy’ at school because she couldn’t play with the computer when she wanted to. And Denise explained that Lily can’t always get what she wants when she wants.

Oh, the perils of being an only child, raised in a single-parent home and having special needs on top of it. Creating boundaries and holding to them, reminding her that yelling is not nice, that sharing is important; I’m doing the best I can. But sometimes I’m not sure it’s enough.

She continues to be (mostly) sweet and loving and loud. I’m pretty sure that most parents of 5 year olds question their parenting skills and are driven mad by the noise and the insubordination. This brings me a strange sort of comfort. Makes me feel almost ‘normal’.

But I digress. Learning. It’s different for girls with Rett Syndrome. Some days this kid is on fire – engaged, communicative and creative. But there are those other days, the days when she didn’t get enough sleep or something else Rett related is going on, that she really struggles. I’m grateful that she, and I, have such a great support system who understands her ups and downs and are so creative in their approach.

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Admiring her artwork – and her favorite ‘literary’ characters

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Snapshot of her play/therapy room (PS someone got her first big-girl tooth!)

These photos make me so happy

 

I love that Lily’s classmates want to help her, play with her, work with her.  I said in my previous post that she causes a bit of a stir everywhere she goes, and school is no exception.

Walking down the halls, kids stop by to say hi to her. The teachers, therapists and aides all look forward to seeing this kids smile.  She is such a ray of sunshine to all she meets.

 

 

Food

Here’s a note I received from L’s school speech therapist earlier today:

I just wanted to reach out to you and let you know that I offered to Lily some of my own gluten free vegan dark chocolate birthday cake here at school. I know she doesn’t eat gluten or dairy so I figured it would be a nice treat. She absolutely loved it and couldn’t stop giggling and reached out for more. The amount would be equivalent to 3 adult spoonful sizes. She very appropriately used her tobii during the activity. She let me know she was happy multiple times and said something new several times on her tobii to let me know it was different.

She had such a good time.

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This kid has ALWAYS loved her food!

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!

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!

 

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

Our Favorite Season

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It is without question that autumn is our favorite season of the year.  The weather is mild, the leaves are turning all sorts of crazy beautiful colors and we don’t have to pile on the layers of clothes.

Lily has been doing some amazing things lately, which may or may not be linked to the statins trial she is taking part in.  Yesterday when she got off the school bus, we went for a stroll in our neighborhood to look at all the leaves.  She walked a straight line for practically the entirety of our time out.  Also, the nanny and some therapists have been telling me that Lily has been much quicker to pull herself up from when she falls.  She still needs to pull her way up, whether holding onto a sofa or a table, but the way in which she is doing it looks almost ‘effortless’, at least according to the nanny.

I’ve not been able to witness her effortless transitions to stand yet but I know I will.  I had one of those weeks where I didn’t make it home in time to put her to bed – not once.  Every night was an event about the kindergarten process (except for the one evening when I went to a fundraiser for a nonprofit which was super fun).  I have learned so much this week (including that nuns can be amazing auctioneers).  And I’m feeling more hopeful that I’m going to find the perfect school for Lily next year.

In the meantime, she and I are going to enjoy the weather, prepare for Halloween, and go for long strolls through this beautiful neighborhood that we love so much.

Yes/No

This kid keeps blowing me away!

Last week, I asked L if she wanted to come to the office with mommy and she moved her head up and down.  I’d never seen her do that before so I asked her again as I was confused.  Again, she moved her head up and down.  It eventually set in that she was saying ‘yes!’!  Holy cow.

And yesterday I was on the phone with one of L’s therapists at school and she told me that Lily not only loves numbers (which I already knew) but that she can identify them and put them in order.  How did they figure this out? In her therapy sessions she has a numbers puzzle and Lily would get really upset any time the therapist would recommend starting with a number that wasn’t zero or one.  Talk about another holy cow!

I am so very proud of this sweet, amazing, hard-working, beautiful, determined little girl.  So very proud.

Visiting mommy at work

Visiting mommy at work