Medical Update

I'm going to go through each specialist, one by one. ***I am not a doctor, nor do I claim to have all of this information completely correct. But I try to understand the best that I can and I hope I have it mostly right!***

Audiology: Emily passed her newborn hearing screening, but it seems that sometimes she does and sometimes she doesn't react/respond to noises/voices. It is hard for me to tell if she's really not hearing or just not reacting like a typical child would because her visual impairment keeps her from looking at objects or voices like you would when you hear a sound. Emily has been to audiology twice now. The first time we did not do a booth test which is the typical first test done. The child sits on your lap in a sound proof booth and the tester makes sounds go off in different places in the booth and watches through a window to see if the child looks in the direction of the sound. Emily's visual impairment and the fact that she can't sit up, makes this test pointless for her. So she had an OAE and a tympanogram done. I get them confused, but I think the tympanogram is the one that blows air in the ear to measure the movement of the ear drums. Neither of Emily's were moving very much at all. The OAE is an inner ear test which picks up the child's responses to sounds, and Emily failed in both ears. However, she had a cold and the audiologist wanted her to be checked by the ENT to see if there was wax or fluid keeping the ear drums from moving. So, those tests were basically inconclusive regarding her hearing. We did see the ENT and she was able to remove clean wax from her ears. We went back for the second visit to do an unsedated ABR. This test uses probes on the head to measure the brain's response to sound. Usually this test is done under sedation, but with Emily's history of sedation problems, that was not an option for us. We had to do an unsedated ABR, meaning she just had to sleep through it. Since she sleeps a lot and very soundly it was possible. She tolerated it for about 45 minutes before waking up. The ABR showed response to low and middle range sounds, but only at higher than normal volumes. The audiologist said this is considered mild hearing loss. BUT, she also did the tympanogram and the OAE again (because she had a cough!) and it showed that one ear drum was moving a little and the other was not. So, there is one more thing to try, an ABU. This is like the ABR except the probes will go behind her ears to bypass the ear drums and take them out of the equation. This is scheduled later but may be done when she is admitted to the hospital next week (more on that below). But it looks like she has mild hearing loss at the worst which is good.

Opthalmology: We saw the opthalmologist a few months ago and got the diagnosis of cortical visual impairment. Emily's eyes are actually functioning normally, but this type of impairment is neurological, meaning her eyes can see images, but her brain is not making sense of them. She she is considered legally blind, but she has low functional vision. She receives services from the NJ Commission for the Blind and Visually Impaired and has gotten a light box (think overhead projector - minus the projector part). The flat area lights up and can be faded. There are color overlays, shapes, faces, and beads. So far she responds best to the colors and seems to really like green. By responding I mean she is actually looking at the light box, following the colors as we move them and blinking (letting images in). She can not track/follow objects like toys, and rarely makes eye contact. But the light box is really great. And the important thing to note about CVI is that her vision can improve as her neurological state improves. Less seizures, better EEG, more vision!

Endocrinology: Emily was first followed by endo in February when she got steroid induced diabetes from being on ACTH (the first seizure medicine that was actually working!!) When she went off the ACTH, the diabetes resolved and she only had to be on insulin for about 2 weeks during the taper.

Then in March, when she stopped eating and I took her to the ER, they unexpectedly found her calcium levels were sky high. She was admitted to the PICU and we started seeing Dr.D. She was originally given a shot called calcitonin (never used before on a baby at CHOP!!!) and it lowered her level, but a little too much. So she was put on a low calcium no vitamin D formula and her calcium levels were checked very frequently in the beginning. She also has an extra 8 ounces of free water added to her daily formula intake to flush the calcium out. The high levels of calcium caused calcium deposits in her kidneys as well, but they are functioning very well and there is no plan at the moment to do anything for the calcium deposits specifically. Her calcium levels have been stable for a while now, so she only has to get blood tests when we see Dr. D now, which is a huge relief because she is probably one of the most difficult babies ever to draw blood from and I, of course, get to hold her through it all!

After her g tube surgery and during her subsequent week long stay for desatting/coding (see older posts for more details on that scary situation) from the pain medications, she had a few random low blood sugars. So after her follow up visit with Dr. D. I was to check her blood sugars once a day and call if they got below 70. A few weekends ago she started having low blood sugars again , low 60s and one 56 over 4 or 5 days. So the plan was to take her off of her feeding schedule which was four bolus feeds (one hour long feedings/about 5-6 ounces) with 2-3 hour breaks in between and one continuous over night feeding, and change her to 24 hour feedings. So now she is fed through her g tube 24 hours a day at a much lower rate and her blood sugars are maintaining at a normal level, between 80-100. But, since they are not sure why this is happening she has to have a test. They call it a 48 fasting hour test. Somehow this 48 hour test is actually going to last from Tuesday afternoon until Friday!!!! She will be admitted next Tuesday, October 7th and stay until Friday. I don't have a lot of details of the test but I know it involves a continuous feeding overnight and then frequent blood sugar checks at certain intervals throughout the stay.

Cardiology - Emily has been followed by cardio for an innocent murmur that actually comes and goes. No one has mentioned it for a while. And she was released by the cardiologist because she didn't see a need for any follow ups! Yay, a short one! :)

Gastroenterology - Emily has reflux and is treated with Zantac. She rarely spits up, it is mainly the silent kind, but seems to be well controlled with the meds. She tolerates her feedings well. She also has constipation issues and takes a med for that too.

Urology/nephrology - Emily has grade III kidney reflux, which means her urine backs up into her kidneys. It can cause frequent urinary tract infections (she has only had a borderline one once in December) and takes a low dose prophilactic antibiotic every night. Kidney reflux can get better as babies get older and can even resolve completely. She will be rechecked between 18-24 months old.

Feeding Team - This is the team including a physician, dietician, occupational therapist, and speech therapist who make a plan in hopes of getting Emily to eat by mouth again. They are extremely conservative and do not want her having anything at all by mouth still, 7 months after she stopped eating. Their reasoning is that she is too high risk for aspiration because of her airway issues (more about this below) and because she is sleepy most of the time, and the last two times we went she had a cold too. Basically they have given no suggestions for oral motor exercises other than what we already do with her OT and PT through Early Intervention. So I'm frustrated with them. They also did not schedule a follow up which is usually in 10-12 weeks because they want to leave it up to her therapists when they think she is ready, and also because we were changing her seizure meds and they want that to be worked out too. Just a heads up, we may ALWAYs be changing her seizure meds. Uggh. Enough of that.

Ear, Nose, and Throat: We first saw ENT when Emily was having labored breathing and making a lot of noise (stridor) back in the winter. After upping her Zantac dose it really subsided, and she breathes very quietly now. But she does have laryngomalacia which is a narrowing of her airway. It is not significant enought to warrant treatment. She also has extremely small ear canals, making it very hard to see her ear drums.

Genetics: Emily has an unbalanced translocation of chromosomes 7 and 9. ((Don't google it, you will find hardly anything!!!)) It basically means a piece of the tip of her 7 chr duplicated and attached to her 9 chr. And her 9 chr has a piece of the tip missing. So she has two chromosome disorders really, partial trisomy 7 and partial monosomy 9. We have not had any follow up appointments with genetics; in the receptionist's words, "Dr. Z has nothing else to tell you". Nice. This condition is so rare they have no data to give us a prognosis. They can only generalize. Children with any unbalanced translocation will most likely have some form of mental retardation (from mild to severe) and physical development delays (from mild to severe).

Neurology: I'm going to try to keep this as concise as I can. It is the most complicated area.
Emily has infantile spasms, a form of epilepsy. These seizures are very difficult to control, especially for children with chromosome disorders and children who display developmental delays prior to the onset of spasms. Emily fits both of those categories. We have tried the following treatments; B6, ACTH (a steroid injection) which had to be discontinued due to the onset of diabetes, Topamax, Keppra, Vigabatrin, and Zonegran. Her seizures decreased and eventually stopped on the ACTH, but came back after the round of treatment. It was while on the ACTH that she had her one and only normal EEG (the test that tracks brain waves). We tried a second round of ACTH, but had to stop. We started Topamax and her seizures varied and then we added Keppra which helped to keep them down to clusters once or twice a day. But with her EEGs still abnormal with lots of hypsarythmia, we tried Vigabatrin. It is not FDA approved, and we had to get it from Canada. It was therefore not covered by insurance and very expensive. After two days on a low dose, Emily went seizure free for 17 days! And then they came back, even after increasing to the maximum dose, and her EEG remains abnormal. So we are in the process of weaning the Vigabatrin and the Topamax (because it is very sedating), and adding Zonegran. She is staying on the Keppra. Her doctors also want her to start the ketogenic diet because it has a higher chance of working than the medications. You have to take an all day class to start, and it is only offered once a month. I haven't been able to get there yet. But I'm working on it.

As far as a prognosis goes, they can't say either. Although the attending neuro, Dr. B. said that unless we get her EEG normalized, she will NEVER progress further than where she is now. We're willing to do whatever they suggest and whatever it takes, but most likely she will have some form of seizures her whole life. And her neurological status will keep her from developing physically and mentally. I have noticed an improvement in her alertness already with the Zonegran though. She is awake more, smiling more, and making "talky" sounds more. She also has moments, especially at night, where she gets very "busy", kicking her legs and arms and making lots of noises, sometimes really loud noises! She is getting her fourth tooth (the top right front), and is doing well with her weekly OT/PT sessions.

That is all for now. If you made it through this whole thing, thank you!!!!!! :)

Emily's new ride

Back in the very beginning of June we went to the adaptive seating clinic at CHOP to see about getting some gear for Emily that would be supportive and helpful for getting her around. Her inability to hold her head or support any of her own weight makes moving her very difficult. We were able to buy a reclining forward facing carseat for her to keep her as upright as possible while still being comfortable at Babies R Us. But, other adaptive seating devices are harder to come by.

At the clinic, the physical therapist recommended the KidKart, a wheelchair/stroller with a full head support system, side supports, etc., to keep her in a nicely supported upright position. She can only ride in the strollers we have now if she is almost completely reclined. Since she is already on her back so much, it's important to get her sitting when we can.

They also recommended a bath chair which is like a reclining lounge chair with a mesh lining to use in the bathtub. It is extremely difficult bathing her, so much so that I can only sponge bathe her because I can't support her in the tub and wash her at the same time. I've tried a few different ways, but none that really worked well.

Now the KidKart and bath chair had to be ordered and accepted by our insurance company so the process took almost 3 months. But, they were approved and we went to the clinic last week to get fitted and pick them up!

The KidKart is awesome and she can sit almost upright without the head strap for quite a while, 1-2 hours. We went to the circus last weekend and she sat in it the whole time and never fussed once. Plus, she was awake the whole time too!! She did her OT session sitting in it as well. Brenna, Carter, and Drew can play with her while she is in it too, and we don't have to worry about them climbing on her like when she's on the floor.

I can't even begin to tell you how happy I am to have the bath chair! I gave her a shower in it for the first time and she liked it and I could wash her thoroughly without any trouble. It sits up high on a base, so I was able to use the shower head for rinsing. I was so relieved I cried.

Here is Emily in her new ride





Playing with Drew and the spinner from her light box (for vision therapy)
At the circus

Sweet Ride

So we bought this super cute Radio Flyer car. Carter thought it was awesome, Brenna loves to sit in it. No problems, right? No, there weren't any problems at all until Carter carjacked his sister. Our little dude, who is often pushed aside by his strong-willed sister, was having none of it, when he saw her having so much fun in the shiny convertible. He dragged her right out and tried to climb in. We determined that the 60% off price tag warranted one toy that didn't need to be shared. Now we have TWO super cute Radio Flyer cars. More to come on Emily's new ride.

Happy Campers

A Guest Post:


One of the things Aimee and I want to do as the children get older is go camping. It was the vacation of choice for both of us as we grew up and we hope to continue that tradition with our little ones. We've been seriously looking since early June trying to find the right camper for our family. After we found it, Grandpop joined us to make sure there were no problems we might overlook. We knew we made the right decision when the seller told us it was garage kept and he would include many accessories. Although we'll likely need to wait until next season to camp in it, we know it will be a source of great memories for years to come.





The most important memory will be that this essentially was a gift from my Mom, and I know how happy she'd be to see this dream fulfilled.

"Hey Dad, Can we eat our cereal at this table?"

It's that time of year again . . .

The weather starts getting cooler, the leaves are changing colors, the kids are back in school, it's that wonderful time of year we call . . .



Fall?



Nooooo, not yet . . .

It's FOOTBALL season!

Here we are during the first official Eagles game, in which, the Eagles pummeled their opposition and went on to victory. Don't ask me details, I can't even remember who they played or what the score was. Ha!

Thanks Uncle Evan for taking the picture and Michelle for the Eagles cheerleading outfits! (Carter doesn't fit in his outfit yet!)

The Other Side

As a Kindergarten teacher for seven years, I always knew it was hard for parents to watch their kids go off for their first day of school. I sympathized, assured them their child would be fine and would have so much fun. When I became a parent it helped me become a better teacher, to understand both sides of the story.

On Wednesday, it was my turn to be on the other side; a Mom sending her first born son off to school for the first day. Oh my, only those of you who have had to do this yet, will truly understand how it feels - almost too difficult to put into words. Now Drew has been in daycare and home daycare full time while I was still working for 2 years. He's been going to camp for the past 3 summers. He even went to a half day pre school last year for a few months while I was pregnant with the babies. So, it should've been easier. And Drew is very independent and excited about school and the bus, not scared at all. So that really helped. But I still couldn't help but feel like he's all grown up, he's going to be in real school now until he's 18 years old. It's so huge!! I'm proud of him, I'm excited for him, I know he's going to learn wonderful things, his teacher seems fabulous, and he'll make lots of friends, maybe even some that will last a lifetime.
I still had a lump in my throat, and butterflies in my stomach on Wednesday morning. Amazingly I didn't cry, and I cry at everything, but deep down I knew he'd be just fine. (Of course I cried later when I checked his backpack and found a poem about the book, The Kissing Hand, and had to make him a cut out of my hand for his cubby. If you've never read this book, check it out!)

He came home (after a ridiculously long bus ride - a story for another time . . .), so happy, telling stories of his day and the lump and butterflies subsided, a little. I guess they'll never really go away completely as he goes through each new phase of his life, huh?

We love you Drewie Caboodles!!!!

Here is Drew at his table on Orientation Day.

His teacher played the accordian (cool!) and they were singing Twinkle Twinkle Little Star

A trial ride on the bus (he wanted to ride by himself!)

The REAL First Day

(the bus came so early - 20 minutes early- we had to rush and I didn't get any other pictures! Wahhh!)

Bye buddy, love you!

Big Winners!

A while back I posted about us winning an unbelievably awesome double stroller from a contest on http://www.triple-take.blogspot.com/ .

I promised I would post some pictures, so FINALLY, here they are:

Carter and Brenna in the new Chicco double stroller

We still have not gotten Emily's Kid Kart (adaptive stroller/wheelchair), so for now she uses this Chicco single stroller that was Drew's. Her Kart was approved so we should be hearing from them soon. She could ride in the double too, because each seat reclines independently.

Carter really enjoyed the photo shoot!

Again, thank you so much to Stefanie who hosted the contest! The stroller is a dream, it folds easily, opens nicely, and rides beautifully! We love it!!!

Down by the bay . . .

Well, there were no watermelons, but is was like going home! :) (I hope you know that song). When Meme, Pepe, Nicole, Joe, and Sierra were visiting we made a day trip to the "Bay Beach". It's a small strip of beach right on the Bay on Long Beach Island, and it's perfect for families with little ones. We used to go all the time as kids, so it was really nice to go now with our own kids!



Carter chillin'

Brenna sun-bathing
Daddy and EmilyDrew and Uncle Joe buliding a sand castle
Carter and Brenna actually EATING sand. Brenna only got a little but Carter kept going back for more!!!!!!
Emily had to stay in the shade
Smiley Sierra

We've had this pop up sun shade tent since Drew was a baby and it was handy at the Bay Beach. Carter loves peek-a-boo and got a kick out of this mesh window!
Meme, Pepe, and Drew under the pavillion

The Spiderman popsicle from the Ice Cream Man (and my favorite picture of the day)!!!!

I'm so glad my family was here so we had lots of extra hands. We did take the babies in the water and they liked it. Brenna crawled down to the edge and started right into the water herself as soon as we put her down!

The Most Excited Four-Year-Old

Ok, so Drew is already so hyped about Pre-K, but today presented an opportunity that couldn't be ignored. Daddy found a brand new bunkbed on clearance for less than $150 and set it up in Drew's room this afternoon. We'd been looking to buy a used one to be prepared for Carter and Drew bunking up (in like a year or so!) but this was less expensive than most of the used ones.

So for now he can touch the ceiling or spread out on the bottom bunk whenever he wants as Carter won't be ready for a big boy bed for some time.

First Birthday Party

We had the babies' birthday party this past weekend and it was so much fun! We were overwhelmed with the number of family members and friends who came to celebrate with us, and even more overwhelmed by their generosity in the gift-giving department! More on that later, pictures first . . .

Happy Birthday Emily!

Happy Birthday Brenna! Happy Birthday Carter!

We sang the song to each baby individually, and Carter had his own cake too (not pictured), made with love by Daddy.

Getting their first tastes . . .
Don't tell Emily's doctors . . .but she liked it. She started licking her lips and then her hands too. After that, she was awake!Carter really got into his cake, and unfortunately he still had a reaction to eggs baked into it. So, now definitely no more eggs for Mr. Carter!!
Brenna ate about HALF of her cake. Well, a little was on the ground!
Carter tried to give Emily some of his cake!Morgan and Drew
The cake for the rest of us
Party guests (Erin and Michelle in the "matching" pink shirts, Cindy, Nicole, Sierra, Sara, and Brody in the background)
Pepe, Aunt Nancy, and MemeLydia, Jen, and me


Joe and SierraKim and Brenna


Mama, Papa, and the Three Little Bears (I couldn't pass up these adorable shirts I found on clearance at Gymboree!!!) I love how they are touching each other; Carter's hand on Brenna's leg, and Brenna's hand on Emily's shoulder.

Drew's favorite activity of the day, the double lane slip and slide!

We'd like to thank everyone who came to the party. It was a great day, and I hope everyone had a fun time. I know we did.
The babies got lots of adorable outfits, pajamas, puzzles, books, and a few (thank you!) toys. It only took us about 2 hours to open all of them!!!!! Aren't you glad we waited until after the party to open them?