Rett Syndrome – Memory Lane

It took me 3 hours yesterday to organize all the paperwork that I have kept regarding Reilly’s care over the last 7 years. It was a very interesting exercise to go through all the different notes made by me and the various therapists and doctors Reilly has seen over the years. I came across one page that is worth documenting as part of the chronicles leading up to Reilly’s diagnosis. I wrote some notes on the back of a print out dated 6/20/2007.  This print out was on Angelman Syndrome.  Reilly would have been 2 years old and just over 1 month old. By this point I knew something was completely amiss with this little girl and on this day I was leaning to an Angelman’s diagnosis (the doctor’s were steadfast on saying she simply had a Global Developmental Delay).


Here are some of the notes I jotted down reflecting on the previous two months:

  • EEG was on the 18th – abnormal results for sure – she reacted adversely to the sedative (Chlorahydrate)
  • Last 3 weeks no eye rolling movements
  • Still drooling, mouthing objects
  • walking is improving – Balance is good. Dr. B considers her gait to be wide (which is a symptom of various disorders)
  • Speech therapy with Debbie is not proving to be helpful
  • Issues with heights and changing on anything other than the ground – develops panic attacks
  • Night terrors have gone in the last 3-4 weeks. She is going down at night a lot easier these days but still requires less sleep than most kids her age.
  • Increased appetite – early morning and at dinner.  She is having 3-4 bowel movements a day
  • Groping herself frequently
  • Still loves to flip books and picture albums
  • protruding tongue (last week), mouth is open a lot
  • Attention span is okay – normal for a 2 year old child

Open Items:

1. Any formal feedback on test results (EEG)?
2. Referral to ophthalmologist (Reilly had droopy eye lids)
3. Likelihood of Angelmans? Note made on the side of the page “I want/need HOPE that she does not have Angelmans”
4. Next Appt
5. Reilly’s Weight



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