Katie’s New Diagnosis

Dan and Katie May 2015This is an overdue post.  We’ve now been in the Cincinnati area for over a year and we have been slowly getting the kids settled into their new team of doctors at Cincinnati Children’s.  After meeting with the endocrinologist, neurologist and neurodevelopmental specialist, we decided to start the full testing for Katie.  Since she was about to turn 6 and was entering Kindergarten this year, we thought it was time to get the ball rolling.  We had suspicions of ADD/ADHD and of course knew about the speech and cognitive delays.  What we weren’t sure about was if she would test on the Autism Spectrum.  We had also started seeing some eye fluttering and she also lost her balance one day while trying to pull her pants down to go potty, so we scheduled an EEG just to be sure.

So off we went to a regular speech evaluation, an ADOS (Autism Diagnostic Observation Schedule) speech evaluation, an ADOS psych evaluation and an EEG.  Overall, based on my own observations, I thought she had some pretty good imaginative play skills and not a lot of stimming behaviors.  While I do see the sensory processing problems with her, I have never thought that her skills were on the spectrum.  Ultimately, the doctors decided to go with the diagnosis of ASD and Intellectual Disability.  Her Developmental Pediatrician explained to me that, though they know her delays and sensory issues are caused by the genetic mutation, giving her the diagnosis of ASD opens up therapies, grants and insurance payments that might otherwise be unavailable to her.  The doctor explained that she has enough of the markers to place her in that category.  Of course, as a mother, I had to have my good little cry on the way home from that appointment, but I finally accepted the fact that it does open up services that she needs to move her forward.

As for the EEG, she was having Absence Seizures.  The data showed that for the 45 minutes that they were monitoring her, she had several seizures.  The doctor agreed that there was enough evidence that waranted her starting medicine.  She is now on 4 ml of Ethosuximide (generic for Zarontin) to help control her seizures.  We haven’t seen any side effects.  One benefit that has been associated with this medicine is that she is finally sleeping through the night almost every night now.  Whether or not that is an effect of the medicine, the result of increasing her glyburide, the seizures stopping or just getting older, it’s hard to tell, but we’ll take it!

So to summarize, Katie now has full-blown DEND syndrome, a diagnosis of ASD and intellectual disability.  However, we are seeing an increase in her speech and a decrease in her melt-downs, but that is for another post.

What kinds of diagnoses does your loved one(s) have?  Were you surprised?  Dissapointed?  Relieved?  Feel free to share in the comments.  I love to hear about what other people are going through.

2 thoughts on “Katie’s New Diagnosis

  1. So sorry to hear about the new dx for Katie sweet friend… But I admire you in staying positive and looking out for the open doors towards her therapies. Missing you guys ❤️

  2. Awe Ailyn, missing you guys too! Do you think you’ll go to the conference next June? Hope to see you there! How are your two little monkeys doing? We are seeing a lot of progress with both kids as we increase the doses of glyburide. Hopefully it will continue as they get older. Hugs!

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