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.


I know it’s been a while since I’ve done a major update.  Life has happened.  I have been back at work full time since August of 2014 and had a part time job that felt like a full time job from August 2012-June2014.  That being said, I feel that I need to get back to blogging at least on a part time basis.  So much has happened and we have reached so many milestones with the kids in that time, but the journey is still confusing and frustrating.  I still have new families find me through my blog and I feel like having the most up-to-date information on this site will be a necessity.

Yesterday, a documentary was shown on the PBS station in Chicago.  It was called Journey to a Miracle: Freedom from Insulin.  I have not seen the documentary yet, but I hope that it shows some of the challenges that some of us face, even though we did experience the miracle of taking our son off of insulin at 21 months of age.  While I agree that was a miracle, and hope that many more families can experience this same miracle for themselves, we still wait for the other miracles every day.  I pray that some day, I will be able to talk to my son in a real conversation.  I pray that some day, my daughter will be able to go to college.  I pray that some day, my children will experience love beyond our family.  But above all of that, I pray that they will live fulfilling lives.

It seems so far off right now, but I can say that there have already been miracles.

Andy became fully potty trained (day time) when he was almost 8 years old.

Katie became fully potty trained (day time) this past summer at 5.

Katie finally outgrew the screaming in the car phase (we’re still working on the screaming at home) and we are able to take at least short trips as a family now.

Andy is now reading site words and counting to 9 independently.  He can also write his name with some assistance (holding his wrist, not guiding).

Andy 11_2_14

One of the biggest milestones has been reached in just the last few days.  I’m almost afraid to write it down for fear he will regress as soon as I type it.  Andy has chosen for the last month to not wear diapers to bed.  It was a never ending round of washing bed sheets, underwear, t-shirts, and blankets.  But he absolutely refused to wear the diapers.  And then it happened.  {cue the angels singing the “Hallelujah” chorus}!  For the last 3 nights, he has been completely dry and slept through the night!!!!!!

What miracles have you experienced lately with your special needs kiddos?

Miss Independence

The ear-piecing scream echoes in my head as I sit at the table watching her eat. She has a sweet angel-face on right now, but I know, like a light switch, she can easily flip on the face of discontent in 0.2 seconds. I persist through breakfast with a quick “a-a, eat please” every time I see the look on her face or hear the beginning of a whine.

We are in full -blown potty training mode with Katie now. Our sweet, nearly 4-year-old daughter is starting to go pee-pee and sometimes poop on the potty but still doesn’t quite have the connection to be able to tell us she has to go. It is this lack of connection and, to some extent, her inability to communicate that is causing her to rebel. Katie has an independent spirit which will serve her well in the future. But her need to assert that independence is driving us crazy right now. She doesn’t want to sit in her chair to eat (she’s perfectly fine if she sits on your lap or walks around with her food). She doesn’t want to sit in the car seat and will scream the entire time until she is extracted ( at which point she will greet you with a sweet “hi” and bat her eyes at you as if nothing traumatic has just happened).

I don’t know exactly why this is happening again (we just got done with the 2 year screaming in the car seat jaunt about this time last year). My theory is the potty training because it is forcing her to grow up. Of course it could have something to do with increasing her glyburide dose too. It’s hard to isolate the cause when we don’t experiment in the sterile controllable confines of a lab. My scientific brain is formulating hypotheses while my logical brain realizes there will most likely never be a real answer.

So for now, we wait. We persist through the screaming. We don’t give in to the inappropriate demands of our “Miss Independence”. This too shall pass!?


At Last – Potty Training Success!


Last year at this time we were very discouraged and at a loss for what to do. You see, Andy was sort of potty trained at around 5 years old but had some regression once he started having his absence seizures. Potty training with him has been a VERY LONG ROAD.

Like most parents, we started putting Andy on the potty soon after he turned two years old. At that time, we were just beginning to learn about his delays and navigate the ins and outs of IEP’s and therapy. Andy truly had no interest in potty training and was unfortunately one of those babies that would happily play all day in a dirty/wet diaper until an adult initiated the change.

For three summers and off and on during those school years, we would attempt anything from just sitting on the potty every so often to full fledged elimination records. In all honesty, we would just get exhausted and give up because Andy just really didn’t care one way or the other.  It was finally in the summer of 2010 that we started having some success.  That summer, we were able to qualify for a home care giver who came to work with Andy for 14 hours per week.  There were two young ladies who came almost every day to work on skills with Andy and on the top of our priority list was going potty.  As a bit of luck, we happened to be living in Wilmington, North Carolina at the time and we had a small 3 foot pool outside of our back door that summer.  It just so happened that Andy absolutely fell in love with “swimming” in the pool so we used that as a motivator for going potty.  That, along with going to only underwear and some other motivators brought us to being “potty trained” by the time he started Kindergarten that year in August.

Of course, I put it in quotations because I am now able to see (looking back) that Dan and I were the ones who were trained, not Andy.  We had to keep in our mind at all times how long it had been since he had last gone in the potty.  We had to remind him, take him, help him with every little step.  He still had a few accidents at school and was still not able to articulate accurately when he felt the need to go.  Still, even as we moved to Seattle, there were successes.  I remember him successfully going while we were on the plane, several times in the hotel we stayed in and even once in a park restroom while we were looking for an apartment to live in.  Granted, during that transition, we would put his underwear on with a pull-up over them, but he was still staying dry most of the time.  He even stayed in underwear throughout Kindergarten, but it was half-day and I would still put a pull-up on him during “quiet time”.

It was in January or February of 2011 when he started to regress at the same time as he started having his seizures.  We tried, unsuccessfully to keep him in underwear during 1st grade.  He was just having too many accidents for the school to be comfortable so we grudgingly obliged them and went back to full pull-ups.  Last summer, I was determined that we would be successful and I went full force during August.  We gave M&M’s and took him to the potty several times a day, no pull-ups, and made him clean up his own mess when he had them.  By the time school started in September, he was able to stay dry all morning and would try sitting on the potty in the afternoon, but refused to go at school.  As luck would have it, he had learned to hold his bladder and hasn’t had too many accidents this year.

Even with all of this success, an adult still had to remind him to go potty or ask him if he had to go.  We had him on a regular routine, first thing in the morning, trying to go at school, as soon as he gets off the bus and just before going to bed.  Occasionally he would tell us he had to go potty, but we still had to take him and he still had accidents.  Then in February, I decided to try the Gluten Free/Casein Free diet I had heard so much about over the last several years.  We had tried some foods just to see if he would eat them and we had talked to his doctor who suggested to try it and see if there was any difference.  In the first week, Dan and I reluctantly agreed that he was just a little more calm.

It was during the second week on this diet that Andy started going to the potty on his own.  I mean REALLY on his own.  I came home one Thursday afternoon to find Katie running around with something from the bathroom and Dan sitting in the recliner.  I found Andy in the bathroom, on the potty, pants and underwear pulled down, doing his thing.  When I asked Dan how long he had been on the potty, he told me he had not put him on it.  JAW. ON. FLOOR!  Skeptics that we are, we were afraid to celebrate.  But when it happened again the next day and twice on Saturday, we started to do little dances of joy.  Andy is finally able to feel when he has to go and can physically go on his own, open the door, and complete almost all steps by himself.  We hardly ever have to remind him and he has only had 2 accidents since February, once when he didn’t get a chance to go as soon as he got off the bus, and once when he drank a lot of water at school and lost it on the bus.  It’s not perfect, but I feel like we can finally move on to other skills now like wiping and snapping/zipping his pants which is a fine motor issue that may take a lot of work.  Now to work on Katie.  Our goal is to have her trained by her 4th birthday this August.  At least she shows some interest and can tell us when she’s wet or dirty.   I feel like that’s half the battle.

Now, any suggestions on night-time training?  That’s a whole other story! 😉