Wow, I can't believe how terrible I've been about posting updates lately. This summer has just gotten away from us! I can't believe that school starts in two days! So here's some hopefully brief updates on Annie--she's had a lot of appointments and testing done lately, so here's the rundown.
Gastroenterology: Annie is actually doing really well in this area. It has now been a full year since she was diagnosed with c-diff resulting in a 4 month treatment with 6 weeks in the hospital. The c-diff was gone as of January, but her colon has still not fully recovered from such a severe infection. Her calprotectin (measurement of inflammation in the colon) was off the chart last year at this time--well over 2500, it was down to 1400 in January and now it's down to 780, so she's moving in the right direction. A normal calprotectin is less than 150. We've been told that it can take up to a year (in bad c-diff cases) for the colon to heal, but considering how severely Annie was infected, we aren't surprised that the effects are still lingering. She still has very loose stools but they are much less frequent than 6 months ago, or even 3 months ago. (I know, that might be TMI for some of you.) So we feel like she is slowly recovering and hopefully next year at this time she will have made a complete recovery. In the meantime, she is still on a hefty dose of colitis medication as well as a special formula.
CDC Clinic:
As part of Annie's routine annual care, we see several of her specialists at her Children's Developmental Clinic appointment each year. It makes for a very long day, but it's nice to eliminate lots of individual trips to the hospital for all these appointments. We only wish ALL her doctors participated in the CDC clinic! So here's who we saw there:
Orthopedics: Annie met with the orthopedist and the plan is to still delay spine surgery until her scoliosis curve gets even worse, hoping she can get a little older before it is absolutely necessary. They say the effects on her heart and lungs are minimal now, so hopefully we can continue to put that surgery off for a year or two.
Pulmonology: Annie is doing really well in this category. She continues to shock us by going 9 years now without a case of aspiration pneumonia! We reviewed all her CPAP settings and how she's tolerating it. We think the CPAP definitely helps Annie be less sleepy during the day. She still takes her power naps, but much less than before she started CPAP almost 2 years ago. She'll repeat a sleep study next January as a routine test.
Genetics: It's always interesting to meet with the geneticist. The first time we met with her, she brought in a printed-off paper from the internet that detailed genetic information about Aicardi Syndrome. Most people probably would have found it helpful, however, all the information she had printed off was directly from the Aicardi Syndrome Foundation website that I, myself, had helped to develop when we updated the foundation's website a few years ago! At this latest visit a similar thing happened... the geneticist brought in two journal articles that have recently been published on Aicardi Syndrome. Little did she know that we had heard those results first hand from the researcher herself when she attended our Aicardi Syndrome Family Conference last year. One publication summarized findings in a group of AS children--again, little did the geneticist know that Annie was one of those children that was studied for that line of research! It all just makes us chuckle, but it does make us realize how blessed we are to be a part of the Aicardi Syndrome Foundation and have it as such a great resource and support in our lives. That particular journal article explored facial and skin deformities in AS children. Based on the article, the geneticist recommended that Annie see a dermatologist regularly, however, I know from learning the research myself that the skin deformities found were all present at birth and did not develop later as a result of AS. So really, Annie is at no higher risk of developing skin problems than I am. She might actually be less of a risk since she's not out in the sun as much as the rest of us. We also don't feel like we're ready to add another specialist to her already long list of doctors unless it is absolutely necessary. We're already anticipating the need for a pediatric GYN or endocronologist soon.
Metabolics: Annie usually has a bone density scan each year--she is at risk of osteoporosis since she does no weight bearing--even in her stander anymore. However, this year they said her scans looked so good last year that they didn't feel like they needed to repeat the scan this year! However, they did do blood work and discovered that Annie's vitamin D levels have dropped again, so they are doubling her vitamin D dose.
Dietician: Annie's weight is still stable at about 53 lbs. She's about 54 inches tall now too. Since she's just on formula through her g-tube, she doesn't gain any weight unless we start increasing her calories, however, the dietician felt like she's still doing ok where she is. She usually hovers around the 5th percentile on the BMI charts. We all agree that to feed her more would only increase her risk for pressure sores and would make it just that much more difficult for us to take care of her. So there's no change to her diet for now. They are adding a calcium supplement however, since her formula isn't providing the recommended amount for her age anymore. They also suggested adding phosphorus, potassium, and sodium according to the daily values that she's receiving from her formula, but until we get blood work to actually show those levels, they aren't ones we want to be messing with. Blood work last fall showed all those levels are fine, and they are managed by the body anyway, so we feel like fewer meds to give her will be better if they aren't needed.
Physical Therapy: The PT at CDC met with us to review Annie's needs. She thinks Annie should still be standing every day, but there have been issues with her dislocating kneecap and the orthopedist agrees that it's fine to stop standing because of her kneecap. Ideally non-ambulatory children should be using standers until about age 12, but in this case, especially with her bone density scans looking so good, they've agreed she can stop standing! Yay! Annie will now double her closet size without her stander in there!
Occupational Therapy: The OT at CDC reviewed what Annie is doing in OT at school. We also talked about modifications to Annie's bath chair since she just isn't sitting very comfortably in it since her scoliosis has worsened. So we'll hear back later from the medical supplier if he thinks there's more options for making Annie more comfortable in the shower. The OT always talks to us about lifting Annie and getting lift equipment in our home, but we told them how badly we disliked the hoyer lift, and how comfortable we still each are doing single-person lifts.
Social Worker: We always meet with the CDC social worker too, but we are blessed to already have all the resources we need to take care of Annie. Nebraska really has been a great place to raise a special needs daughter. We are so fortunate to have so many programs that get her the help she needs as well as our main social worker (outside CDC) who works so hard for us!
Developmental Pediatrian: The developmental pediatrician was out this time, but we met with his nurse practitioner. Our only concern in this area was regarding Annie's ranula that has come back even after her second surgery in Ohio. The Ohio doctor had said if it comes back again the last option would be to completely remove both sublingual glands. We have no idea who, if anyone, has experience with this procedure in Omaha, so we discussed it with this nurse practitioner. She wasn't familiar with anyone in Omaha who does the surgery, but she did give us a name of supposedly the best pediatric ENT at the children's hospital. But first we need to hear back from the doctor in Ohio concerning the matter.
Whew! So that was all one day at the CDC appointment.
Neurology: The very next day after the CDC appointment, we met with our neurologist. It was just a routine visit that was rather uneventful, but we did discuss more seizure control options for when Annie is menstruating. Just like most AS girls, the seizures can be really bad during that time of the month and we're learning Annie is no different. While on vacation in Utah she had seizures for about 12 hours just before her cycle started and the seizures didn't even respond to our emergency meds. She got a full dose of Diastat that day in addition to 2 hefty overdoses of Ativan! The neurologist agreed that we did the right thing, but hopefully this pattern won't continue with each cycle.
Salivary Gland Sonogram: The next week we took Annie in for a sonogram of her salivary glands to help give the doctor in Ohio a better picture about what might be going on--it's also just part of the routine follow-up after having her ranula surgery in June. The technician struggled to do the sonogram and admitted that they don't really get requests for this kind of imaging. He left the room several times to speak with the radiologist about the test. So we'll wait for the Ohio doctor to get those scans and advise us on how to proceed. If we can't find anyone in Omaha that has experience with gland removal, we will definitely consider taking a third trip to Ohio. It is a risky enough procedure with facial nerves and the risk of losing her smile or causing paralysis of the tongue, that we want to make sure we have a surgeon who has a lot of experience with this rather rare procedure.
Urology: Annie also had her annual routine urology testing the same day. I was rather surprised to hear the urologist tell me that Annie has a mass in one of her kidneys, but that it was there in November as well--she had a CT scan of her kidneys last fall while hospitalized because they were worried about her kidney function after being so dehydrated for so long. Apparently they found a mass, but didn't tell us about it, or else they DID tell us about it, but we were too concerned about her just surviving her terrible infection that we weren't concerned about a little mass. Anyway, the urologist said it's definitely not a kidney stone but is made up of fat and blood vessels. He honestly has no idea what it is, but guesses it's a benign tumor. He didn't seem concerned because it hadn't really grown since November--it's about the size of a dime--but he wants to continue to monitor it with sonograms every 6 months to make sure it's not growing. If so, he'll either have to remove it surgically or treat it with radiation. *Sigh*
Ophthalmology: Annie continues to see her ophthalmologist every 3 months due to potential vision loss from her anti-convulsant medication. Thankfully, the appointments are usually pretty quick and uneventful. Annie's peripheral vision appears to be holding steady and her retinal lacunae for the most part remain unchanged. Thankfully her retinal lacunae are all around the optic nerve, so only her peripheral vision is effected by the lacunae--making her peripheral vision appear as Swiss cheese. Which is really good considering that the anti-convulsant causes
peripheral vision loss. She's been on it since she was 7 months old and we have been SO blessed to not have to play the seizure med game since then, although she still has seizures about 2-3 times a week--relatively, that is GREAT control!
Ok, I think that completes the updates on Annie. Hopefully I can stay more up-to-date now with school starting. If you made it this far, congratulations! You know more than most about all the unseen struggles of a special needs family! And I apologize for the long post! Good thing I didn't go into ALL the details of each appointment, but I didn't expect the condensed version to be quite this long either!
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