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?
- 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
- 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).