Surgery and PT

Thankfully Isabel's surgery went off with out any problems. They scheduled it for 1:00 in the afternoon so getting her to abstain from food and drink was definetly the hardest part. About an hour before the surgery the anesthesiologist brings in a picture of all of the different flavors of anesthesia that they have. Of course they are pictures of FOOD! Isabel starts freaking out screaming, "Nana, Nana!!". So needless to say, we chose the banana flavored anesthesia. She gladly went with the nurse back to the operating room (I think she was getting a bit sick of me by this point) waving goodbye with a huge smile on her little face.
The surgery took about 45 minutes. The dcotor came into the waiting room with pictures of Isabels intestines, esophagus and stomach which were pretty neat. She said that Isabel did clot but that she bled for longer than expected. Her esophagus is also very red and inflammed so she is putting her on Prevacid for awhile to help with that. They took 9 biopsies and some blood to send away for testing.
About a week later we got a call saying that the biopsies were negative for celiac but to wait for the blood results for a definite answer. This past week we got the call stating that one test came back negative but the genetic test came back positive. This means that she does not have celiac right now but she has the potential to get it in the future.
So, we are back at square one with the diarreah. We are trying a new probiotic for 2 weeks and if that doesn't work we are going to put her on Flagel which is an antibiotic that kills bacteria and parasites. Dr. Y thinks that maybe they missed something on the stool culteres since they have to be so fresh. I think she may be digging for an answer but at this point, Ill try anything!
Isabel has also starting potty training this week and is doing pretty good! She is having a hard time dealing with the diarreah so I'm hoping that once we can finally get that under control it will make it a lot easier on her.
Overall things are going great right now! I don't want to jinx myself but it's been almost 3 months since her last seizure! Her neurologist is even starting to wean her off some of her meds! She has gone this long before so, we'll see what suprises she has in store for us this month!

GI

We finally met with GI after almost 4 months of diarrhea. Brian and I both love Dr. Y. Even though Isabel was quite a handful, she sat down and went over Izzy's lab results thoroughly with us and listed each of our options. It turns out that Isabel did test positive for the T-transglutaminase IGA form of celiac disease. But the doctor is not going to base the diagnosis on one blood test alone since this diagnosis is life-changing. Iz will be scoped next week at the Childrens Hospital to obtain biopsies of her small intestines. These biopsies will be tested for celiac as well as many other autoimmune deficiancies. While she is under they will also draw blood for more gentic testing to see if she has "latent" celiac. Since they can't sample every piece of her intestines the bloodwork will help show if she has celiac and is just not showing all of the symptoms yet.
Although I've been through the anethesia route many times with Caden, it's harder to think of my baby girl going under although I'm sure she will be just fine. Please send some good thoughts our way!

A Day At CHKD

On Wednesday we had Isabel's 6hr EEG. For the most part, she did wonderful. Honestly...I'm not just saying that because I am her mom and I have to, I was really impressed with her. The only part that she hated was getting strapped down to put the electrodes on. She screamed like I have never heard before, sounds came out of her that I didn't think were humanly possible. But, as soon as she was taken out of the torture device and asked if she wanted a dog or a cat backpack she answered immediately with, "Meow". So she happily put on her cat backpack and into the small room we went. They had cabinets full of toys to keep her busy so we played for awhile, watched TV for a bit then had lunch. The nurse came in and asked if I could try to get her to sleep...ha! So I made a valiant effort (which the nurse saw since we were being video recorded). The nurse came in after about 10 minutes of watching me struggle to get her to lay down and told me to go take a break and that she would try. I politely laughed at her but gladly jumped at the chance to leave the room. When I came back 20 minutes later, Izzy was fast asleep. I don't know how those nurses do it! So Iz and I took a nice hour and a half nap and when she got up we only had about an hour left of the study. The nurse came in to get us and put Iz back in the torture device to remove the electrodes. Again, screaming and scary noises came from my sweet little girl. When she got up, her hair looked like a hot mess but she was still as cute as can be. The nurse sent us back to our room to gather our things and came back in with a giant green teddy bear for Izzy and a gorgeous green knit hat for her to wear home. She said she didn't want Izzy to get cold with her wet hair but I think she wanted to hide her crazy EEG hair just like I did :)

Overall it was a long day, but CHKD make the experience enjoyable for Izzy and for that we love them!!  

New Year/New Updates

A lot has happened since my last post and I honestly don't know where to begin. Isabel started having a string of seizures...maybe one or two a day for a few weeks, which prompted her neurologist (Dr. F) to want the genetic test run on her stat. To make a very long drawn out story short, we finally got the results back. Her PCDH19 gene is mutated which is the cause of her epilepsy. At this time there is not much known about this mutation. It is only found in females and was just discovered back in 2008. Nothing new can be done for Izzy at this time but we need to watch her very closely for the next few years. There is a 50% chance that she will regress around the age of 6 and mentally stay that age forever, but as Dr. F put it...he wouldn't count out high school or college just yet. It was a devastating diagnoses for us but we have learned to take it one day at a time. Thankfully she has not had a seizure in 2 weeks!
We also went to see hematology due to her lack of clotting when she got her blood drawn and her easy bruising. After a long talk with the doctor and a few tubes or blood we found out that she has low Factor VI or Hemophilia C. It's definitely not a huge concern but something that we will need to follow up with in February when we see hemo again.
Isabel has also been waking up screaming occasionally and holding her head. The first few times I gave her some Motrin and brushed it off but after the fourth time I called Dr. F. He said that migraines go hand and hand with epilepsy so he put her a preventative migraine medicine. Since we started it, she has become a different child. No more waking at night, so much happier during the day and she is eating much better too! I feel so bad for brushing off her pain for so long.
Lastly, poor Izzy has been having diarrhea for over a month so we took her to the pediatrician. They gave us lots of cups to take home to fill with "samples" and took some blood to run some tests. A week and a half later when I received a call from the actual pediatrician I knew that the news wasn't good. She tested positive for celiac disease. I guess this also can go hand in hand with epilepsy. I was told not to change her diet until we see the GI doctor at the end of January. I will make them test her yet again because this is a major lifestyle change for my baby.
I just wish that she could catch a break. Through it all she is such a trooper...she always has a smile on her face. She is teaching me an invaluable lesson and I will never forget it, she truely is my hero.

I Saw This One Coming...

As soon as Isabel walked through the door yesterday I said to Brian that I think a seizure is coming soon. The last few days she has been miserable. She also has been waking up shaking very badly, which has recently subsided a bit. Last night she cried non-stop from the minute she got home until the seizure started, why is that? I wish she could tell me. It really did come out of the blue. I turned away for just a minute and when I looked back she was already blue. I layed her down and her eyes rolled back in her head and she went unconcious. It lasted well over a minute. She went to sleep in my arms for awhile, it is so hard looking at her pale little body. Thankfully when she came to, she was back to herself again, just a little slower...happy as can be. The transformation was amazing. We kept her up for awhile to ensure that she didn't have another seizure.
I put a call into Dr. F today and am currently waiting to hear back. I know that he is going to want to increase or add another med. I really do not want to do that. She is honestly overmedicated as it is. I want to know the route of this. We still haven't figured out where these seizures are coming from yet! I know that she has epilepsy and seizures are a normal thing but no parent should have to watch their child go through this...it's just not fair.

Discrimination?

Isabel has been in the same daycare since she was twelve weeks old. The majority of the teachers there she knows and loves. Although the room she is in now I am less than happy with. I won't get into the details but lets just say that I did not want her in it for another 9+ months. We started looking for a new center for her a few months back and found one that we really loved. A spot finally opened this week and we jumped at the chance to get her in. I had spoke with someone from the center over the phone earlier this month about Isabel's epilepsy and they seemed like it was just fine. When I went in yesterday to pay her registration fee they acted as if I had never told them about it. They said that they would set up a meeting with her teachers and myself before she started so that they would feel comfortable, I thought all was well so I gave her old daycare center the one week notice. Today I get a call saying that they will NOT take Isabel unless we hire and pay for a full time nurse to stay with her. Excuse me?! If I had the money to hire a full time nurse I would be able to stay home and hence not need your stinking daycare. I told then that Isabel is fully functioning and does not require and addidional help unless she has a seizure. I would provide instructions on what to do if that happens and everyone in that building is CRP certified. Im mad to say the least...so mad for my little girl. I wanted to reach through the phone and grab the lady on the other ends shoulders and shake her and be like, "Do you know how long we have waited for this, you said she was fine? She is not severely disabled as you called her!!" You can bet that this is not the last time that they hear from me!

October Update

We were doing so good, two and a half months with out a seizure when out of the blue they started again. We were on vacation in the Outer banks at the aquarium when the first one came, we were expecting more because normally Isabel never just has one isolated seizure. Thankfully though, they stopped for the day. They next day she had three more. The following day, two more and so on for the rest of the week. She had a total of eight seizures throughout the course of our vacation. After speaking with her neurologist (Dr.F), he upped her Topamax so she is now on 45mg in the morning and 45mg at night along with 3.5mL of Keppra in the morning and at night. Thankfully she was seizure free Saturday and Sunday but she had two more on Monday so Dr. F squeezed us in for an appointment yesterday. He added yet another medicine to her regimen...Lacosamide. We are starting off on a low dose and slowly increasing the amount. I would really like to see her off of the Topamax because she is really staring to loose her appetite. She lost one pound in one and a half weeks. I know that doesn't seem like a lot but when your only 25lbs, it's quite a bit of weight! He would also like her and us to get a blood test to check and see if this is genetic or benign. He is beginning to believe that it is genetic which really makes me sad for Izzy. I know things could be a lot worse and I am in no way complaining, I just wish that I could make it go away. The blood test is not covered by insurance and runs around 1200$...yikes! He would also like to admit her to CHKD at some point to get a 3-4 day EEG. Dr. F is amazed that Isabel is not a zombie with all of the meds that she is on, in fact she is just the opposite, she is a nut! That girl has more energy than Caden half the time!
In other news speech therapy is going very well! She is making wonderful progress and we both love her therapist. Hopefully we can get these seizures under control and this new medicine will help her out a bit!