1. Pesky little brain lesions
KayTar has a sprinkling of small lesions in her frontal, temporal, and parietal lobes. To quote the magazine article,
"MRIs have revealed lesions in her brain, which are thought to affect everything, including her hearing (she is partially deaf in one ear) and her ability to eat and digest food (KayTar survives on a mostly liquid diet)."To quote the official MRI report,
"There are somewhat patchy appearing foci of increased T2 weighted signal in the subcortical white matter of the parietal lobes as well as a couple of foci in the frontal lobes. There is also a greater than expected T2 weighted signal in the subcortical white matter of the temporal regions and subinsular regions. This pattern of signal abnormality is non-specific and could be the sequela of a previous insult as might be seen with a congenital infection including CMV (although no parenchymal calcification on remote CT)...prior infection, demyelination, ischemia...less typical for a metabolic disease."I prefer the short magazine quote myself, but I know we have some of you medical types out here that might like the technical description.
2. Developmental Delays
At one point, her delays were global and severe, but as we've worked with her in therapy and at home, she's quickly closed her gaps. She would probably look like any other child if you met her these days, as long as it wasn't on the playground. She struggles a bit there. She is starting the special education preschool program next week and will be receiving speech and occupational therapies while in school, and she will be in private PT and OT as well. Although her motor delays are now the most striking, she did not qualify for PT through the district. Her orthopedist prescribed 2-3 session per week for her, so we are taking care of it privately. The private OT is meant to assist with her sensory aversions and feeding difficulties.
3. Feeding Disorder
KayTar gets the majority of her nutrition through her bottle of Pediasure. Yes, she is three. Yes, she drinks a bottle. Yes, we are okay with this. At this point, taking the bottle would likely result in a g-button, so we're just fine with the bottle. KayTar has very strong sensory aversions, especially where food is concerned. She also doesn't appear to feel hunger, either. You know how they say, "Kids won't starve themselves."? Well, she is one of the exceptions. She will starve herself and she won't even realize it. She also has a long history of vomiting. So we're left with a child who doesn't LIKE food, doesn't FEEL hungry, and strongly believes that FOOD=VOMIT...it really isn't too surprising that she doesn't eat. She snacks and picks at her safe foods, today she had a small bowl of her "Lay's Classics", but we can't even depend on her eating her safe foods reliably. Food is optional to her, there is no internal need for it, and her intake is perpetually unpredictable. On a good day, we can get her to eat a couple of stage 2 baby food jars. Thank God for Vanilla Pediasure with Fiber (which is the ONLY kind she will take), without it, she'd be in bad shape. This gets us into trouble when she is sick, because she will often stop eating and drinking completely, leaving us teetering on the edge of dehydration and at times, landing her in the hospital with an "Ivy" as she calls it.
4. Hearing Loss
KayTar has sensorineural hearing loss in her left ear. She wears a cute little purple hearing aid. The loss is moderate to severe, she can hear things like jet planes and lawn mowers, I think. Lately she has been mishearing me a lot, so I'm anxiously looking forward to her next ABR to make sure it isn't deteriorating further. The type of loss she has, coupled with the lesions, makes them think her hearing could deteriorate further, so she has bi-annual hearing tests to keep an eye on things. While we were without insurance, we had to skip her appointment and she hasn't been tested since November 2007.
This one is pretty minor really, but before starting her on the controller medication, she was vomiting nearly every night from the coughing fits. We always thought, "Oh, that's just KayTar." but once the medications took effect, we realized it wasn't just a quirky KayTar thing, it was asthma! Fancy that! The pediatrician noted some wheezing and a prolonged expiratory phase on exam, too. It took a bit to get it under control, but we haven't had to give her rescue inhaler in a while, and the last time she vomited in her bed was from an episode, I think it is working pretty well. When she comes down with something, we end up having to give her the rescue inhaler, but when she is healthy, we've got it under control.
6. Chronic Constipation
It is well-controlled with a twice daily dose of Miralax, but there was time when it was a pretty grizzly scene. It caused me to coin the term fecal midwifery, if they helps you visualize what was happening. There was one time I thought I was going to have to pack her into the car mid-delivery and rush her to the ER. Thankfully, I was able to fix it...but that was one of those lovely parenting moments I won't forget.
7. Neurological Episodes
This is the difficult one, both to explain and to live through. We believe her first one was about at 6 months of age, but she didn't have another until 14 months. Then at 17 months, they started coming quickly. 2 weeks, 2 weeks, 2 weeks. The pattern has loosened some with time. She's had 34 of them in her little life. The predominate thinking is that they are manifestations of some sort of an atypical migraine syndrome, and the way we describe them to people is "migraine-induced seizure activity". The term migraine doesn't quite convey what happens to our sweet girl. People tend to think it is a headache, but that is far from the reality of it. The presentation used to include an intractable head tilt, but is now a varying combination of pain, light sensitivity, vertigo, involuntary eye movements (rolling, jerking, appearing to be stuck in odd positions), vomiting, and always, always she has an altered level of consciousness. This is the part that rips my little heart out and stomps on it, seeing my bright and beautiful girl suddenly slip away from me, the part of her that make her HER ripped right out of her. She stops responding to us, stops moving, stops opening her eyes. That is the part that always makes my heart stop...my little baby suddenly nowhere to be found, even though I'm holding her tight in my arms.
There are other little quirks that make life interesting, but those listed above are the major players. She has a genetic mutation on her 19p13 chromosome that is thought to be inactive. Her glucose levels tank when she gets sick, but she looks just fine. She has an ataxic gait. Her joints are hypermobile. She doesn't react appropriately to cold. She has been reading for over a year. She still has those spontaneous eye movements that look like small seizures. She is wobbly. She gets sick easily and seems to have an affinity for strep. She needs to wear glasses. She's quirky. She's had MRIs, CTs, LPs, EEGs, and ABRs. She's had chromosome analysis and metabolic work-ups and labs out the wazoo. She sees a pediatrician, neurologist, geneticist, gastroenterologist, ophthalmologist, feeding disorders specialist, audiologist, ENT, and an orthopedist. We have to get her medications at a compounding pharmacy because we can't give her oral medications. She has a huge medical file that weighs as much as she does, full of questions that mostly don't have answers. In the end, though, she is just KayTar. Not too long ago she was a silent mystery, mostly shut off from the world, and we desperately grasped for answers so we might know something about her, anything at all. But as time has passed, whatever it is has loosened its grip on her and we've gotten to know her, her laughter and tears, her silliness and love for the stage, her favorite things, her little habits and quirks. We know the things all the things that really matter, so suddenly, the things we don't know don't seem to be quite as important anymore.
Quick update: It is probably time for another version of this, but as we're waiting on a couple of sets of test results, I'll just add a quick and dirty update to this post.
In November '08, KayTar had a g-tube placed to improve her nutrition and intake and is doing really wonderfully with it! She's up to 32 pounds as of her last check! She also had a muscle biopsy to test for myopathies, specifically mitochondrial disease. We are still waiting on these results to come back. She had her tonsils and adenoids out to cut down on her rate of infection. She also had an ABR that showed her hearing loss in the left ear has progressed to the profound levels, her hearing aid is no longer able to help her hear.
In December of '08, she had a fairly dramatic allergic reaction and we are currently awaiting results of her allergy tests. We now carry an epi-pen for her, just in case!
I think that is the latest!