Catching Up

Biscuit is very protective of Emily . . .
He likes to be as close as possible! you can't tell because of the blanket, but his legs are actually on top of her leg.
I almost caught the whole smile!
Awake and alert

I haven't posted a medical update lately. So, here goes!



Emily has been having weekly calcium checks to keep the doctors posted on her calcium levels. She is still using the low calcium formula and extra water and her levels have been mostly in the normal range. There was one week where it was a bit high, and so we increased the free water and it came back down. It is hovering right around the high end of normal, so it continues to be checked weekly.



She is still being fed by NG tube, and the latest news on that front, is that she is only to be fed by the NG tube right now and for probably 2 more months at least. The NG tube is the feeding tube in her nose. We are currently waiting to set her up to have a G tube put in her stomach since her feeding difficulties are ongoing. We were certainly hoping she would start eating normally again after her calcium got back under control, but that, unfortunately is not the case.



The G tube will be surgically placed in her stomach and she will get fed through that tube the same way she gets fed through the nasal tube now. But all the doctors recommend it because it is more convenient, more difficult to pull out by accident (yay), and not irritating to the nose and throat. And since her doctors don't want her taking anything by mouth for awhile, it's the way to go. I was definitely reluctant to do it for awhile because it feels so permanent, but it can be removed later too when she does start to eat again by mouth.



Now - why is she not eating anything by mouth you ask? Well, her pediatrician and I noticed that she was breathing very noisily and sounded congested. So we made an appointment to see the ENT who used a scope to look down inside her throat and found that she has a narrowing of her epiglottis (or laryngomalacia). It is not so bad that she would need to have a corrective procedure right now, but the ENT wanted to have two follow up tests, an airway flouroscopy and a barium swallow study to rule out some other complications. She also wanted her to start on Zantac for some reflux.



I think the Zantac was a good idea, because without changing anything else, her noisy breathing and congestion had dramatically decreased and is almost gone!



We had the flouro and the swallow test, and it showed the laryngomalacia and some reflux, which is what the ENT saw. So nothing new there, which is good.



We also saw the feeding team at CHOP to discuss her feeding issues. The team included a doctor, nurse practitioner, speech therapist, occupational therapist, nutritionist, and a dietician. And if she had been more than nine months old, we would have seen a psychologist too! They also agreed that she should be NPO (not fed by mouth) for now. So I can let her try to suck on my finger or a pacifier dipped in water to keep her practicing her sucking. We'll see them again in two months or so.



The Occupational Therapist from the feeding team also suggested that we make an appointment with the seating clinic to get some adaptive equipment for Emily. It is getting increasingly harder to move Emily around and find baby gear that she can "sit" in comfortably due to her inability to hold her head up or sit. She has no trunk control so she slumps in anything that is not reclined, and she needs extra head support. Right now she lays on the Boppy pillow or in the rocker/chair. She may need an adaptive stroller, sitter, bath seat, or car seat. We will have that appointment at the very beginning of June.



She also recently got a molding helmet. One of our very first concerns for Emily was her head shape, so at a follow up appt in February, when the plastic surgeon noted her head shape had not improved since November, he suggested the helmet. She got it two weeks ago and has to wear it 23 hours a day. She gets to have it off for one hour while I wash her head/give her a bath. Hopefully we will see an improvement in a few months, but it has been difficult keeping it fitted well because she is always laying down.



Her spasms have been improving. She is currently on Topomax and Keppra, and is having 1-3 clusters of spasms each day that last about 3 minutes each. This is down from 4-6 clusters a day, with each cluster lasting 5-10 minutes each. We still have some room to increase her doses a bit and maybe we'll see even more improvement. Of course, we would love for her to be seizure free, but I'm not sure that that's possible. Her chromosome disorder complicates the effectiveness of the seizure medications.



She has also been having more alert/awake periods - sometimes for hours at a time. She can make eye contact occasionally, but not hold it or track for very long. She has started batting at the toys that hang down from her playgym and make the music play which is very exciting. It is mostly by accident that she hits it- but that is how she'll learn. She has been smiling more often too!





Oh, and she has a tooth!!! Just one, on her bottom left, and it's about half way through.