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
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