Katera Elise Durovchic.... born 9-1-96 in Portland, Oregon
My pregnancy was normal, full term (overdue, actually), and the birth was uncomplicated. I was older (41) when I became pregnant with her so I had an amniocentisis which was done fairly early (14 weeks). The results of the chromosomes were normal and there was nothing remarkable about the ultrasound..... too early to see ACC.... and as we know NOW, she does actually have *most* of her CC, so they probably wouldn't have seen any problem at the time with the partial formation as that is what they would expect at that point. I have three other kids..... all boys..... that were 16, 13 & 9 when Katera was born.
I did not notice anything unusual about her at or right after birth..... her Apgars were excellent and she held her head up within an hour of her birth and looked around the room, and right into my eyes. The only thing that I can say was different was that she spit up a LOT more than my boys had..... and was VERY fussy for a brand-new newborn. Much later, it was discovered that she had had a broken collar bone on one side that probably occurred at birth so she was probably in pain. (Guilt for me!) The spitting up ended up continuing...... really bad.... and really didn't go away until she was around 2 years old.
Anyway, the first sign we had that anything was really "wrong" was when she was 3 weeks old..... one evening my husband was holding her on his lap and she was awake and looking around.... then suddenly stopped breathing and turned blue. After taking her right to the emergency room....and having it happen several more times while we were there..... it was determined that she was having seizures. An MRI was done which did show the partial ACC but later, when a repeat one was done at 3 months old, it was unfortunately mis-read. We were told that her CC was "complete and fully developed". So, we just kept plugging along.... she was on seizure medication but still having one once in a while..... and just watched her and waited. We had no real reason to expect her to be delayed but it was something that we knew to be watchful for since she did have a seizure disorder. She was alert and made good eye contact, cooed, smiled and laughed right on schedule. It was not until about 5 months of age, when she was just not trying to reach for toys or anything..... and had not yet rolled over..... that we knew, and her pediatrician suggested, that we needed to get her evaluated. That was a difficult time because, since we did not realize she had partial ACC, we did not know what we were faced with. The ped said "maybe CP"..... and our hearts began to break. She was 8 months old before I could get her into an Early Intervention (EI) program for an eval...... and she showed significant delays by then so that's when she started therapies..... physical therapy (PT) and occupational therapy (OT) that continued weekly from then on.
She made very slow but steady progress in therapy and with us working with her at home..... but then we kind of got side-tracked a lot by problems with seizure medications and more seizures..... that is a long story in and of itself. Suffice to say, it was frustrating and maddening. At almost 2 years of age, we still didn't really have a diagnosis but a few suggestions were being tossed around. She had been seen by a geneticist who did run a number of blood tests for certain disorders that he thought could be involved but the whole process was hindered by the fact that we were going forward on the assumption that she had an intact CC.... so they didn't have that piece of the puzzle.
Three months before she turned 2, we were referred to a developmental ped in Portland who felt very certain that Katera had Rett syndrome..... which they know is genetic because only girls get it but there was no test for it at that time. It is a progressive, degenerative condition.... and we could expect her to regress, lose skills and decline until eventually passing away. She would not live longer than possibly her teens. The doc was basing it on certain behaviors, characteristics (like microcephaly) and just what she looked like. She sent us to a metabolic specialist for a workup because many girls with Rett have metabolic abnormalities. He was appalled that our primary care docs had not done another MRI since she was 3 months old and ordered one immediately......which showed (TA-DA!) partial ACC. Then, when our neurologist tried to get Katera's old films to compare to, they were found to have been "lost".... and they remained "lost" for 8 months..... but when they finally were able to retreive them and compare, it was found to have been there all along (of course) and that the last report had been a mistake. When this news came to the developmental ped, she said that the p-ACC "ruled out Rett syndrome". Can you believe it?? We were THRILLED to find out that she had partial ACC!! Needless to say.... we had been on the roller-coaster ride from hell..... and it wasn't over yet.
At least we had some specific diagnostic ideas a this point..... but the next challenges had to do with worsening seizures and battles with neurologists in our HMO (Kaiser Permanente) and finally having Katera end up having a dangerous reaction to a seizure medication and landing in the ER, seizing non-stop for 2 1/2 hours as a result. I had been adamantly telling the neuro that the more of this drug he gave her, the more seizures she was having. I looked it up on my own and found out the side-effects and danger signs to watch for and brought it to his attention that she was having a reaction. He finally agreed but we couldn't get her off the drug fast enough and ended up with this long seizure, which they termed was a "status event". We spent the weekend in the Peds ICU and brought her home, relatively unscathed, right before she turned 3. We had some more medication juggling in the next year but more importantly, my hubby changed jobs and we had new insurance which allowed us out of the Kaiser system and into a new neurologist's office..... the best thing that ever happened to Katera! Working together with this new neuro, we put her on the Ketogenic Diet right after her 4th birthday, which has worked for her with nearly textbook perfection..... and she is now off all drugs and has only had a handful of seizures in the past two years or so. We couldn't be more thrilled. This is much better than she ever did on any medication.
In March of 2002, she was diagnosed with a tethered spinal cord and had surgery to release this in June. This is something that had probably contributed to many physical delays for her. She had actually started walking at age 4.5 but then quit altogether a few months later, stopped climbing up on things, developed scoliosis, etc. The surgery has resolved this and she started walking again in September at age 6, continuing to make progress every day. We did 40 treatments of Hyperbaric Oxygen in the summer of 2002 which we believe also contributed to helping her heal and regain her ability to walk.
Katera has struggled along in every area......with very significant delays all the way around. But, she has continued to make progress. What's more.... I'd say that a couple of years back, I was in a pretty dark place emotionally but now, things are much better. I am much more positive, sure of myself and really enjoying her. We have always got challenges to deal with but things seem to be smoothing out..... which helps her so much in being able to make some progress. She's certainly made me a better person!
Katera was diagnosed with apraxia of speech in 2002, which we think finally explains her difficulties in that area (she also has motor apraxia). She does have about 100 word approximations that she uses spontaneously but she leaves off all beginning sounds and is difficult to understand, but has a wonderful communicative intent, a great eye gaze that she prefers over pointing with her finger. We are presently pursuing starting an ABA Verbal Behavior home program and I am searching for a new speech therapist who knows more about apraxia. Apparently, they are a rare breed! We are currently homeschooling Katera. I do all of her OT (mostly sensory integration activities) at home. We'll be starting therapeutic horseback riding soon.
What else can I say about this amazing little mystery girl? She does not have any of the physical characteristics that some say are the "ACC look". She does not have low-set ears or widely-spaced eyes. She does not have any sign of ADHD and although she does have some sensory issues and doesn't like lots of noise, she does not have autism (or so all the experts keep saying). She is by far the absolute healthiest (physically) of my four children, is very social and has a wonderful attention span!
Patti Durovchic - January 2003