We made it

Thankfully we are all home safely. We left at 6 this morning and arrived right at 7. It took about 15 minutes to be brought back but it wasn't too long. As soon as we started back Gracie's nerves kicked in. She ended up with my mom and I going back because she wanted her Honey. The nurse was very nice and gave us the run down. We were supposed to be giving her Versed at 7:30, meeting with the "team" (about 6 different specialities) then going back for surgery at 8. Something got screwed up with one of her consents so someone needed to be tracked down for a new one. I was a little irritated that it took over an hour to get one freaking consent form but what can you do.

She went back to the OR without me (the Versed did it's trick). I anxiously sat with my cousin Ash (who works there... she was a lovely distraction) and Brian (who was busy working and not stressing). Within 20 minutes the first surgeon was on the phone and she was done. The tubes were in and the adenoids were out. Not 30 minutes later did the GI surgeon come out and tell me everything went swimmingly.

They brought me back to her after another 20 or 30 minutes and she was not a happy camper. She was so upset, screaming, in pain, just a mess. I felt just awful. She is looking at me begging me with her eyes to do something and there was nothing I could do. The nurse we had was about 800 years old and did little more than tell Grace "you're fine honey". I was not thrilled... especially since our experiences at CHOP have been so great in the past.

Anyway, it took well over an hour to get her settled down enough to stop gagging. Finally she was calm(ish) enough to get ready to go home. She had terrible belly pain because of the gas from the endoscope. They had given her morphine but that doesn't help with that kind of pain.

The good thing is that by about 11:45 we were packing up to go home. It was a long day and I am so glad it is over. Thanks to everyone who was praying for her today!

(Not the best pictures since I took them on my crappy phone but better than none I suppose.)

Waiting for her giggle juice


After a little giggle juice


Not a happy camper

Wake Up Calls

I know I have blogged about this topic before but it is something that hits home for me on a fairly regular basis. One of the things that astounds you when you go to a hospital like CHOP on such a regular basis is how hard life can really be. If you think you have it bad all you have to do is wonder the halls of that hospital for an hour and you will leave both teary eyed but also thanking God for how good you have it.

Today Abby had her 6 month allergy check-up (she is still severely allergic to eggs and milk and has developed pollen, dust and tree allergies). While we were there we had to go get her blood drawn. The lab is in the building for hematology and oncology. As soon as you walk into this building it feels like a different place. The waiting room is nothing like a waiting room, rather it is more like a living room for kids. There are computers, TV's, toys, etc. What struck me immediately was the "dirty bin" for toys. As soon as your child finished playing with something it goes in the bin to avoid germ spread. Then as a sweet little boy with no hair walked past me I had to resist the urge to hug both him and his parents.

Off to the side is the chemo room where kids can go get their treatment in a special room with beds and tv's and privacy. They try to make it kid-friendly but the parents all look so hollow, so broken, so sad. Hopefully most of their children will be okay. They will survive. But how do you measure survival when you have to watch your child battle like that. To those parents the struggle itself is probably enough to shed years off of their lives. I don't know how they do it. I have a hard time understanding how their is any fairness in it.

What I do know is that although we deal with our own set of issues, they pale in comparison. I am lucky. I am blessed. And I know it. I think I needed that reminder.

Endocrine Appointment

Today was Abby's endocrine appointment. Several of her other doctors were determined that the cause of her restricted growth was a hormone or endocrine cause. The doctor we met with came very highly recommended and was very nice. A little curt, but nice. We went through Abby's growth charts, history, diagnoses, etc. Long story short the doctor felt that although she lingers as an outlier on the growth curve she is just tiny with a very efficient metabolism. She said that because she is taller than she is heavy that the cause is likely not a hormone imbalance. So for now she just wants to monitor with no more testing. (HOORAY FOR NO BLOOD TESTS!!!)

So I am thrilled that no new tests or problems arose. That being said we go back to the drawing board with the temperature regulation, sleep issues and thirst and hunger regulation.

Gracie's GI Appointment

Today we went in for Gracie's GI appointment. She has been complaining a lot lately about stomach pain so we decided it was time to get her in. The doc seems to think she might have this thing (can't remember the medical term) where she has an allergy to something she is eating but there are no external symptoms. The irritation lives solely in the stomach and intestines. So they are going to "piggy-back" an endoscopy onto her surgery for tubes and adenoidectomy. This means instead of doing the procedure in the outpatient center we will need to go to the main hospital. Not a big deal just more traveling. We are hoping this might mean a closer surgery date so we can get the tubes in before summer comes.

On a sad note we found out today that our GI doc (who Gracie has seen since she was a baby and we adore) is leaving Philadelphia in July. We will be very sad to see him go. : (

Abby got her flu shot

I think I posted last week about Abby having to miss her flu shot. Lucky for us they called this week with a cancellation at the allergist. It was a terrible time (right smack in the middle of nap) but I wanted her to get the shot as soon as we could.

I took her over on Wednesday afternoon. It took a while to be seen and the office was jam packed. When they got us in the did the usual skin test (they put 4 different allergy tests and prick her skin). She did good with the needle pricks and we waited the 10 minutes. When the nurse practitioner came in she looked at Abby's arm and said "oh no, my first positive flu shot this year". I am thinking just great. Now she won't be able to get the shot. The good thing was it didn't mean no shot. The bad thing is that it meant two shots in one day and we had to be observed for an hour in between each. So our flu shot appointment (that takes normal kids, including Grace, all of 30 minutes) took us over 3 hours all in all. She was so ornery, tired and bored by the end of it I thought I was going to have to run away. She fell asleep in the car on the way home for about 45 minutes but it sure made for a long afternoon.

So the good news is both girls and Brian now have their flu shots. There is a shortage of shots so I can't get one now. Hopefully in a month or two.

LLLOOOOOOOONNNNNGGGGG Morning

Today Abby had an allergy appointment at the new office at CHOP. They went to bed late (GRacie was up screaming until almost 10) and I had to wake them up more than an hour early. We got ready (with a lot of whining) and I dropped Gracie with my Mom. I hit the road early.

I hate going somewhere new, especially somewhere in a major city when it's rush hour. I left about an hour and 15 minutes to get to what should take about 45 minutes. After a boatload of traffic I arrive where google maps says I should be. Of course, there's a detour. I figured my way around (since the office was sort of near where I went to grad school) and found the lot. I pull in and it's under construction. THere are narrow drive ways and very few spots. I get into a spot where it is especially narrow and I think I have it cleared when I hear the godawful sound of metal on cement. My car scraped the column and put about 7 almost foot long scratches. (Can you tell this is the point at which I wanted to cry?) So now I'm late, can't find the spot, my car is scratched and I am exhausted. I get a spot, park, get Abby out and start walking. Of course the sidewalks were closed so I had to walk about a block and a half out of my way to get to the office.

I arrived 15 minutes late and had to wait another 20. Abby was good. Her appointment was fine. The bad news is her milk and egg allergies are still severe BUT she is no longer allergic to peanuts! Yay! SO we may not be able to eat most normal things but we can now have PB & J! The doc sent us to the bloodlab to have labs run to see her allergy levels. This can be used to see in 6 months if she is improving. It gives us a glimpse into whether or not she is outgrowing her allergies.

So, after about 5 hours we arrived home. Past lunch, past nap and both of us cranky. I got Gracie and brought the girls promptly home to bed. Now I am just hoping they sleep for more than 45 minutes.

Answers are hard to come by

I have been anxiously waiting to hear back from the neurogeneticist after Abby's MRI a couple weeks back. He and I have been playing phone tag for about a week now. I had a weird feeling since he was calling himself (and not the genetic counselor who usually does follow ups) and not just having me make the appointment for blood work. Today I finally spoke with him. So it seems we have some answers... a least somewhat.

Abby has an extremely rare congenital abnormality called Rhombencephalosynapsis. It means that her cerebellum which should be separated by the two hemispheres is fused at the midline. Our doc sent me the only known research study on this abnormality; it's from Switzerland and involves only 9 subjects. The study sites only 29 known cases confirmed by MRI study. The outcomes vary from profound mental retardation to fully functional cognitive function with marked balance, gait and tone issues. So it seems we are looking at a lifetime of the balance issues we are currently battling. It also commonly associated with eye movement problems. This will likely land us back at the neuroophthalmologist in addition to the regular ophthalmologist.

So it's neither good news nor terrible. We know that it sure could have been a lot worse. For that I thank God that Abby is in the more functional group. I can't help but feel a little sad though. Sad that we will never get answers. All we know is that it is not associated with any specific gene (although we will have genetic testing run next via blood work) and it occurs in utero. I feel sad that my daughter will never be "normal". She won't walk like the other kids. She won't play on the travel soccer team.

I know, I know... it could be worse and blah, blah, blah. You don't have to say it... I already know it. I am lucky. Very lucky.

MRI Part II

Abby's second MRI is over. We arrived at 8:15 yesterday morning and went immediately to the sedation unit. The nurses and doctors were very nice. They explained everything thoroughly and were all very patient as Abby kicked, screamed, hit and cried when they came near. Once we were put in a room and took off her coat, she immediately started crying and yelling "all done" and "go, bye-bye". They gave her oral versed (sp?) to calm her down and it worked briefly. For about half an hour she acted like a silly little drunk. It was kinda funny really. Once that started to wear off she was back to pretty cranky.

When they finally came in to do the IV she was pissed. It took two nurses to hold her down. They commented about 5 times how strong she was for someone her size. We joked about how all the PT has toughened her up for situations like these. They got the line in and started the sedatives. She fought like a champ. After having more Versed, Barbitol (sp again?) and one other sedative she was still trying to sit up with two nurses holding her. Honestly it was tough to watch. She was so confused and mad and there was nothing I could do or say to help her.

They took her away and we (Brian, my Dad and I) went for a cup of coffee. We came back an hour later and no Abby yet. It turned out the needed to do contrast dye to look at a few of her functions so it took a little longer. When the nurse brought her back she had her wrapped in these huge blankets and we couldn't see her. She was hysterical. The nurse scared us a little and told us immediately not to talk or make noise. She said that she woke too early and if she woke all the way up she could have "psychotic like symptoms". Ok, what Mom wants to hear that her two year old might have symptoms that bad. :( Brian and I stood helplessly as the nurse rocked her back to sleep. The only thing I could do was put her blankie next to her face the way she likes. It sucked to be in that position.

Fortunately she went back to the deep sleep for an hour and a half and woke up more coherent. She was ready to go once she got up. She tried to pull her IV out herself. Once she was up she ate (the box of animal crackers Poppa brought for her :D) and drank juice so she was ready. They pulled her IV and we left.

The remainder of the day she was tired, crabby and very wobbly. Even hours later she still couldn't walk without toppling immediately. We're hoping a decent nights sleep will get her back on track.

We'll be calling on Monday to see what results they have.

Life sure can suck

As I sit here in the sedation room at CHOP waiting for my baby to wake up from the third time she has had to be sedated in her life I can't help but feel a little sad. As I watch the other parents walk by we give each other that same knowing glance. We all agree that watching doctors and nurses hold down our babies (no matter what their age) and put needles in their arms is awful. Having drugs pumped into their little systems kills us a little inside. Some of them will go through this once. They will feel sad and they will be done. Others of us get to do it again and again. We will feel nauseous as the smell of a hospital. We will want to cry and scream and hit someone as we watch they feel sick or hurt. There is little we can do. It's our lot in life. We wish it was us. We wish we could tell the doctors to stop. We know that our children are looking at us, their parents, and don't have a clue why we would let anyone hurt them. That hurts my soul.

I know it isn't the worst thing in the world but it sure does suck.

Details of the MRI to come soon

First OT Session

Yesterday we had our first meeting with Abby's new occupational therapist. She was FANTASTIC. She is a Mom of a special needs child herself and has suffered the loss of a child shortly after birth due to a genetic mutation. As odd as this sounds knowing that she has dealt with some of the issues we deal with endears her to me. She was so energetic and so open about her own family experiences. She was so wonderful with the girls (BOTH OF THEM!) and was a breath of fresh air after our ST experience.

We focused a lot on Abby's feeding issues. Because of her sensory issues she tends to stuff her mouth full until the point that she cannot chew. It's partly her weak chewing muscles and partly seeking sensory input. Spicier foods will help a little but we have some great strategies to work on. Hopefully we'll be on our way to self-feeding and using utensils!

We also started working on her flapping, arm and foot twisting and rigidity. I think the OT is going to work so beautifully in conjunction with her PT.

Tomorrow morning we are headed to the hospital early for her high res. MRI. She has to be sedated so she has to fast. I hate having to try to hold her off with no food. She is an eater so it isn't easy. She can have jello and juice up until 7am so we'll get her up early to load up on those things. We're just praying that this MRI yields a lot of great information for the neurogenetics team so they know what genetic tests to run. Fingers crossed...

Abby's eye doc visit

Today we went for Abby's 6 month visit with her eye surgeon. Unfortunately Abby HATES the eye doctor (pent up rage from her surgery I guess :D) and he has a tough time getting a really good assessment of her vision. We have had some concerns about one of her eyes turning in and her far vision. The doctor concluded that her left eye may be turning in slightly and she may require patching of her right eye to make sure she is seeing okay out of the left eye. We couldn't really assess her far vision at her age and because she pitches the worlds biggest hissy fit when she gets to the floor of the hospital (at CHOP) that the eye doc is on. We're hoping at her next visit we can get a better idea of what is going on.

We're officially moved!

We moved. It sucked. It's done. Enough said. :D

The girls are adjusting well to their new home. They are definitely loving all the new space to run around. I can't wait to get the playroom and the yard ready for them.

Tomorrow we meet up with Abby's eye surgeon at CHOP for her yearly checkup. They are thinking that she will likely be nearsighted but so far they have not been able to accurately test her eyesight. Hopefully tomorrow we'll get a better sense of what her vision is.

Abby's MRI

I am not sure if I mentioned that we are in the process of battling insurance to get a higher level MRI run for Abby's neurogenetics diagnosis. They want it done at a local hospital but they don't have the proper machine. I was about at wit's end when the genetic counselor at CHOP offered to handle it. I got one phone number for her and she got everything set up with insurance. So it sounds like we might not have to pay the $2,000 for the test! Yay!

So CHOP will be calling this week to set up the MRI.

Todays Appointment

This post could be about ten paragraphs to get the whole story but I am going to edit for the sake of time... I am exhausted. From the time we walked into the hospital to the time we walked out was close to 5 hours. We waited over an hour and a half to get called back and it was a LONG, LONG, LONG appointment. They asked a lot of questions in a lot of detail.

The doctor and his intern feel that her cerebellum issues have been overlooked and should not have been. The structural problems that have been discussed are her enlarged ventricles (although I learned today they are not simply enlarged but also formed improperly), her ventriculomegaly and the thinning at the back of her corpus callosum. What I learned today is that the front of her corpus callosum is also problematic. It is too thin and not properly formed. Then her cerebellum is too large and the wrong shape.

The plan is to have a higher level MRI done to get a better look at these structures. Then we will do genetic blood work once the doc knows what he wants to test for. Based on her history, her presentation and her last MRI he feels he may know what gene is mutated. It is a gene that is responsible for the development of certain structures in the brain. The good part is that NONE of this involves any of her cognitive faculties! The bad news is that once you add the cerebellum to the mix you are talking about life-long balance, tone and motor difficulties. It is very stressful to know all the nitty gritty but it is going to give us great information about what we need to keep her moving forward as she gets older and ages out of EI.

Neurogeneticist

I FINALLY was able to make Abby's neurogenetics appointment today. The doctor who we will be seeing at CHOP is world renowned and very hard to get into. We're hoping to get some more information on Abby's condition. I would really like to know as much as I can about her future so I know what to be planning on. We're always careful since we don't want to limit her. If someone told us that she would have been completely unable to walk, would we have pushed her as hard? KWIM?

So we're trying to get as much info as we can while still relying on her individuality and tough spirit. We don't see the doc until early March but we were expecting June so that is great news.

Neurology Visit

Today we had our neurology follow up for Abby at CHOP. She got measured and is still under 19 lbs. Her head size is large but they felt it was okay considering the fluid. The nurse did refer to her as a "frequent flyer" today, which oddly enough I thought was hysterical. I even asked if we get airline miles or something.

The doctor felt she is making good progress in her development. He is pleased with the interventions she is getting and wants to add OT and some supplemental classes (tumbling, swimming, music) to her repertoire. We're just waiting for her DDD to come through and the holidays to be over to start those. He is referring her to Neuro-Genetics for assessment. If we knew what caused this we might have better information in terms of her prognosis. We know cognitively she is above her adjusted and actual age. The rest is lagging and it would be nice to know what the expected outcome is. I guess we'll see. So for now, all is well and we will keep plugging along.

Appointments

Today we had two appointments at CHOP. First we saw her eye surgeon for her 6 month check up. He had some concerns over how well she is seeing but the moment Dr. A walked into the room she went NUTS; kicking, screaming, hitting, making herself puke nuts. So we couldn't do many tests. He instructed me how to do eye patch testing at home and I will call with the results. Hopefully nothing b/c I hate the thought of glasses at this stage.

It took about 20 minutes to get her to stop crying which was just in time for her allergy appointment. They did skin testing which she freaked over, tested her for the flu shot (since she is allergic to eggs) and gave her the flu shot. They also have finally diagnosed her with asthma. We knew she was developing asthma but her pedi was remiss to diagnose it formally. So now she has to take Claratin and Singulair daily and has a nebulizer for when she gets colds. The problem was that this all took about two hours and this entire two hours she was hysterical. She ended up a sweat covered, choking mess by the end of it. She kept looking at me like "Why, Mommy, Why???" which of course made me feel like crap.

She came home and slept for a while and is in better spirits now.

Poor Gracie has developed a myriad of issues from the antibiotic for her ear (yucky diapers, yeast in her mouth, etc.) so it is fun every which way.

A Quick Rundown

One of my readers asked about Abby's ventricular measurements so I thought I would do a quick recap of Abby's condition for any new readers. I just found a group that is devoted entirely to moms (or moms-to-be) with babies diagnoses with ventriculomegaly. I know that what I was told was so devastating and grim. I would like to paint a much brighter picture than my doctors did for me.

After many, many, many infertility treatments (IUI & IVF) and a miscarriage I finally became pregnant with triplets. We lost baby C at the end of the first trimester. Because I was considered a high risk pregnancy (multiples, early high BP and GD) I was monitored closely. At my 17 week scan the u/s tech detected what we later found out was a ventriculomegaly (enlarged ventricles in the brain). They diagnosed her with aqueductal stenosis, hydrocephalia and ventriculomegaly (she measured 14mm at that point). My perinatologist sat us down and explained that we should think about terminating as her outcome would likely be grim. He said that they never know but she may never walk, talk, or function for herself. Thankfully Brian quickly told the doctor that terminating was not an option and that was the end of that. I referred myself to CHOP immediately.

At 21 weeks gestation CHOP had me do an advanced MRI, cardiac studies of both babies and a high level ultrasound (which was a very uncomfortable 2 hour procedure). Then I met with the Fetal Diagnosis and Treatment team. They explained that she now measured 12mm and they found no stenosis. She did have extra fluid so they felt a shunt would be probable. I spent the rest of my pregnancy feeling nervous about what Abby's life would be like but knowing that I was blessed with the lives of these two precious girls.

The girls were born via c-section at 37w 2d and went to the NICU immediately. Gracie looked great (weighed 5lb 14oz.) and was breathing well. Abby was smaller (4lb 14oz), blue and having trouble breathing. Fortunately she never needed intubation. Gracie was in the NICU for a week for jaundice, weight loss and my gestational diabetes). Abby stayed 2 weeks for jaundice, weight loss (went down to 4 1/2 lbs), and feeding issues (NG tube). They scanned her brain in the NICU and found that the ventricles were mildly enlarged.

Abby did not meet any milestones so we started PT at 4 months. She also had strabismus (both eyes crossed in) that required glasses and eventually double eye muscle surgery. Our pediatrician did a pretty crappy job of monitoring her condition so at 4 months I decided to call the Fetal Diagnosis team at CHOP and see what needed to be done. We went back to CHOP in an emergent situation (rapidly increasing head size) and were seen by the neurosurgery team. We were referred to neurology and had a CT and MRI done. They found that she has enlarged 3rd and 4th ventricles, increased fluid in the frontal lobe and posterior corpus callosum hypoplasia/dysplasia (which means the connective tissue between the two halves of the brain is thin in the back).

Our neurologist referred us to audiology (for assessment), ophthalmology, neur-ophthalmology (which resulted in her eye surgery), Early Intervention (which has been doing since 9 months) and assessments for OT and speech.

Thankfully the outcome we expected has been shattered by all that Abby can do. She can now crawl, she babbles, she has use of all her faculties and is on target for a very normal life. She will possibly have learning disabilities (which is something that comes with her diagnoses) as well as continued tone, balance and motor issues. Considering our doctors told us she may not live after birth these things that we deal with seem so minimal.

Upper GI Series

The upper GI series went okay today. We waited FOREVER and since Gracie hadn't eaten since 7am she got very cranky. They got us in around 2 (even though we were scheduled for 1:30) and started the test. The poor little thing was already hungry and exhausted... then they started pouring barium chalky crap down her throat while pinning her down for x-rays. They "let" me stay in the room so she kept looking at me like "HELP ME MOMMY!!". I felt like crap having to stand there and hold her down. Was not a great day. Good news is no malrotation or obstruction. They did note severe reflux and poor stomach emptying. We'll see if they want to run more tests or let the meds do their thing.

GI doc

We met Gracie's new GI doc at CHOP this am. We liked him VERY MUCH! He has decided that Gracie probably has a stomach disorder where her stomach is very slow to empty which causes her the puking and discomfort. He has ordered an upper GI series for Friday afternoon to make sure there is no obstruction or malrotation. If that is all clear we will proceed with the meds and see what happens. He changed her meds to Prilosec and Reglan (instead of Zantac and Reglan). It is possible that she has a type of allergy that causes irritation in the esophageal tract but we are going to hold off on the endoscope for now (thanks goodness). All in all it was a productive trip!