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 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