My Story

Ava is four years old and was diagnosed with a mitochondrial disease in May of 2009.  There is currently no cure.  

Ava loves singing and music, the beach, computer games, and her dog, "Channy".

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Thursday, July 2, 2009 3:55 PM, EDT


It has been one LONG week around here.  Whew...I've been to St. Pete three separate times now, all in monsoon-style storms.  I'm ready for a break this weekend before we do "triple duty" on Tuesday...GI here in Sarasota, then neuro and cardiology, both in St. Pete.  That will be a very long day!

Ava is still complaining about lots of intermittent belly pain.  Now it's not just with meds, it's with food and throughout the day.  :(  I hope GI might have a suggestion for us on Tuesday, but I'm not holding my breath, unfortunately.  We've had a hard time lately and there's nothing I've been able to do to help her.  :(

I don't have results of the EEG yet...I'll have those on Tuesday when we see the neuro's nurse practitioner.  I've got my fingers crossed on that one, but she didn't have one of her "episodes" during it, so who knows what it will show. 

She was SO good about the swallow study on Tuesday.  I was so proud of Ava!!!  Last year it was really tough and they never got a good representation of her chewing/swallowing since we only managed to get her to take 2 sips of barium.  This time she actually ate 2 mini marshmallows, took 5 bites of a Go-Gurt, and drank almost TEN little sips of juice for them!  :)  Hooray for Ava!!!  NO aspirations, thankfully!  They did see some "pharyngeal residue", which basically means a weak swallow, but they weren't overly concerned.  My only concern is that she wasn't fatigued during the study, and the choking is much worse when she's tired.  They did note her real lack of functional chewing skills, but Ava does a good job of adapting...she uses her fingers to push food into her teeth and gets the job done pretty darn well in her own way.  :)

Today we had our follow up appt. with the developmental pediatrician.  Ava did SO well on her IQ testing, and since I don't do it very often, I'm going to brag today.  ;)  She showed growth from last year, particularly in terms of performance and visual processing, scoring a 121, indicating "superior" intelligence and the 92%.  Toot toot tooting my own horn!  :)  Her verbal score was also excellent, at 104.  Verbal and nonverbal reasoning seem to be her forte at the moment.  She's a smart little cookie, her articulation is almost a year ahead of her age, but it's language processing that is a concern.  The dev. ped. said that we'll just have to watch it as she gets older and gets into "real" school, so we can assess what sort of impact it will have on learning.  I liked that plan and was soooo proud of Ava!  Both she and the psychologist said that Ava is a real pleasure to observe and work with.  :) 

They weren't able to get a full IQ score for Ava, however.  :(  This involved testing processing speed, with fine motor skills and some writing.  Ava wouldn't comply.  This is something that we see quite a bit of.  This is when the "I can't do it" comes out.  Fatigue is a major factor in Ava's willingness to complete a task, and if she doesn't think she can do it, she just won't...no matter how many times we tell her, "You can do anything...you're Ava Knops!"  ;)  This is something we focus on in OT (school and private) and it's just going to be one of those challenges that we'll have to face.  I have some ideas that I got from the UMDF conference and our OT also has some ideas for ways to make things easier and reduce the amount of energy needed to complete certain tasks.  So, a work in progress. 

The hard part of the developmental evaluation to take was the adaptive behavior (daily living skills) and social-emotional skills.  :(  Ava's self-help skills (and lack thereof) place her developmentally at a 2 year, 3 month level.  She is currently almost 4 years, 2 months.  Potty training is a very tough issue for us, as her GI issues make it so difficult.  We're going to work more on training, but it's so hard and a lot of the time, she just doesn't show signs of readiness.  She also has trouble with motor planning, endurance, coordination, and both muscle tone and strength, so things like undressing/dressing and other self help skills are seriously underdeveloped. 

Her social-emotional skills are that of a child that is 2 years, 1 month old.  This is especially disheartening because she has made HUGE progress socially since starting school last August.  She is beginning to "get" the interaction with other children and is really developing play skills, but she has ZERO concept of social boundaries.  She has NO fear of strangers, no concept of danger whatsoever.  She doesn't understand personal space is overly affectionate with strangers.  We're hoping that this is just something she'll pick up on as time goes on. 

We talked about the A-word (autism) that has been thrown around for so long, and honestly, Ava is not autistic.  What I now know about mitochondrial diseases and the strong link to autistic behaviors, it is plain to see that this is what happens with Ava.  It is clearly related to energy and the way the rest of her body is functioning.  The bad days are bad all around, and now that we understand that it's her body not being able to produce enough energy to keep her body systems functioning properly, we'll know to keep her resting and keep her activity level low.  Apparently, it's all about maximizing energy in and minimizing energy out...it's tough to balance, but I just hope that we can keep her healthy. 

Sorry to write a novel, but it's been a long week and it's easier than doing several updates!  Happy 4th of July!  :)

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 To help curb the out of pocket costs of testing and medications, please visit any Bank of America location to donate to the Ava Bella Knops Medical Fund (business account, not personal). Thank you!

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HOSPITAL INFORMATION

All Children's Hospital
801 6th St. South
St. Petersburg, FL 33701
United States
(727) 898-7451