Genetic testing

I haven't mentioned this because we didn't have official results. Now that we do I thought I'd share!  We did a bunch of genetic testing to see if we could have a reason for zoeys infantile spasms/epilepsy. We got the news that she may have a disease called Rhett syndrome. Not a disease that we wanted to deal with. Basically she would regress. No hand movements, no walking, no speaking.  It was devastating. We then ordered more genetic  testing to see how bad it could be. 

Sometimes you can miss part of your DNA and it won't affect you. So we did a lot of family time, praying, fasting and a lot of talking. What we had was a miracle. We recieved an email today from the doctor telling us that the first test was a false positive. She is not missing any part of any gene. No Rhett syndrome. While it is annoying not to have a reason why Zoey had infantile spasms, we are glad to not have a genetic disorder that could impact future kids either.  What a relief!  Zoey has come so far this last year, and is a beautiful happy child. To think she might have lost that was devastating. I know life is still going to be hard for her. It will still be hard for us, but I'm happy. We are happy!  

This family needed some good news!

Tests,tests, and more tests!

Okay here is the big update for everyone. Zoey was taking a med called zonisamide that I had high hopes for, but did nothing. Now we are on another medication called vimpat. It seems to be helping, but not enough. Instead of having seizures daily, she is having them every 2 or 3 days. After watching these seizures, I had a huge fear that her infantile spasms were back. So back to the testing games we went. She had an MRI on Wednesday which was long and made us all exhausted. Results came back good. Last year she showed some deep tissue injuries from her spasms. This time, there were no signs of injuries at all. Old or new!

Thursday we went in for another EEG to make sure spasms weren't back. Lucky for us there is no infantile spasms going on. She still shows abnormal signs which means she has seizures going on (duh!). So now we wait until Tuesday to talk to our neurologist and find out what step to take now.  I have to say she was the cutest little girl for the EEG. If you have never had one, they hold your head still then put tons of goo and electrodes all over your head. I would say about 20-30 electrodes. She was smiling and grinning and making everyone laugh. No crying or fighting. She was a beautiful little toddler making everyone love her. She is good at that! Her favorite person is joe joe her brother who continuously tries to make her laugh. 

Zoeys time

Can't believe it has been so long since I blogged! So hear is the update. We finally got into a new neurologist who has been fantastic so far. She actually was the doctor that diagnosed Zoey in the very begging and remembers her. This dr. Has made her own practice and what a change it has been. She calls back the same day when I leave messages and even gave me her email address which of course I lost, but still amazing! I talked to her all about my concerns with Zoey and starting new meds again. After a lot of discussing we settled on zonisamide. Still a scary, crapy drug but the least scary of them all and the one I felt comfortable with. So now we have been on this mes for something like 8 weeks. We had to increase her dosage because she was having early morning breakthroughs that would wake her up crying with cluster seizures. She has been on the increase for almost 2 weeks and it seems to be working so far!

Tomorrow we start another fundraiser for little miss Zoey! I know I know 2 in one year! Yes a lot but this one she was able to get into last minute and best of all I didn't have to plan it! Also it's in summer so no having to compete with christmas. Don't worry no more after this for awhile!

Also the other good news is that our hard  work is paying off! We are in a research about genetics and infantile spasms. Haven't done anything yet but I love that we are doing something productive to help others!

Dun dun dunnnnn....

Yes the dreaded day has come! My Zoey is having seizures again. What kind you may ask? If only I knew... But alas, we don't get answers... What do you do when you call your nurse and she is on vacation for 2 weeks? Call your neurologist!!! Oh wait.. She is on maternity leave... They won't give you another number, only leaving a message to be answered in 3-4 days. Good to know that seizures don't cause brain damage or anything! Oh they do?? Well we will answer you in 3-4 days still... Hmm time for a switch!! We have an appointment with a new neurologist at a new place tomorrow! Hopefully we will finally get some much needed answers about what is happening with Zoey and how we can help her. Yes, I know this is a rant, but only so much can be taken before mama bear gets poked too many times. I recently saw a movie that described my whole day yesterday when we were trying to figure out what to do. Stress paralyzed. When there is so many things to do, but you are so stressed that you can't do anything. You sit and think and stare... Luckily today I came out of it, but it was a long day!! I will keep everyone updated as soon as I know anything new or worth mentioning!

Ohhhh yeah!!!

What a funny day! Zoey's physical therapist has been telling me for weeks now that when Zoey was ready she would walk. She has been on the edge of walking for weeks now, but has refused to talk those first few steps.... Until today! Today was the day that Zoey met her grandad Burke for the first time. So how does she great him? She takes 3-4 steps on her OWN!!! Then she proceeds to give her nanny Burke a big smooch right on the lips. Must tell you that watching this little girl being so social and doing things that we didn't think were possible, such an emotional night. She saved her big moment for her grandparents! Little show off! We have been pushing her to do it and refused, but her physical therapist was right. In her own time. 

She is still having seizures, and there isn't a lot more information about that. I want to diagnose her myself with absence seizures. Those seem to look the most like hers. She doesn't have them everyday, but they are still frequent. We haven't put her on meds yet. Still trying to figures out which direction we should go. The meds are pretty rough, but we don't want to wait until she has bigger and worse seizures. All in all though, she is still her happy little self. It's amazing how many emotions you can have during the day. Right now in this very moment, I am happy and at ease with my little girl. 

Oh so happy!

I'm sure by now everyone has seen my many many pictures and videos of my Zoey doing her thing! My baby girl can crawl! Yes, it is a bit of a modified version, but oh wow she is on a roll. Today I actually had to tell her NO! Doesn't sound exciting right ? Usually she can never get into trouble because she is stuck wherever I put her. Today she scoot/crawled over to the plug while I was vacuuming and tried to figure out what it was. She then proceeded to chase me around trying to get the vacuum. How long have I waited for this! So now she is moving right along and pulling herself up on things and trying to take that first step. Bless her though, the kid needs to know how to fall down. She is so cute, when she goes to bed or is tired she puts her hands behind her head. That is how she falls back words too. As soon as she tips, hands go up behind her head. Yeah it's cute and all, but she's not a big fan. So we are working on falling on her bum. Joseph has been so fun with her lately. He loves to squish her cheeks, and for whatever reason Zoey likes it and laughs.... Most of the time. Joe joe refuses to take baths without his sister and they play and play. Visions that I had in my head of what they would be like growing up together is finally coming true. We did go and see the neurologist again just for her check up and for now, we will leave her off meds. Any sign of a seizure and we will be doing an overnight EEG with her and getting her on meds. Let's just keep the good vibs coming and say it was just a fluke with the whole fever thing! 

Ok?

Alright yesterday we finally got some results! Zoey was a bit naughty and wouldn't sleep during her EEG. That means her EEG wasn't as clear as it should have been. However, she definitely doesn't have infantile spasms. That is a good thing. They are not sure if her seizures are related to her sickness a couple of weeks ago or if now it's something else entirely. Whatever it may be, the ones she is having are very short and not harmful to her brain. Meaning she shouldn't lose anything she has learned like she did with infantile spasms. Yay! That was my biggest concern since she has been doing soooo well! The plan is to wait for 3 weeks for our next appointment and see how she does. If she has more seizures she will go on meds, but if they stop then we keep plugging away like we have been. I intend to look into the meds they will put her on so going into the appointment I will already know what I want to do. Good news is she hasn't had any seizures since Sunday so gotta keep going!

Bummer

I probably shouldn't write a blog when I feel this way, but unfortunately for everyone this is my therapy.  A way to clear my mind and maybe even get some sleep tonight. Zoey is having something going on. Spasms or seizures? We will find out hopefully tomorrow or Wednesday. Another EEG on the way for my baby girl. I knew it was a possibility, but I didn't think it would only be 3 1/2 months of being spasm free. For a little while I have seen things that made me wonder if she was having them or not, but last night was a flashback to those dark days. She woke up from sleeping and back to back to back 10-15 little body shudders and eyes unfocused. My stomach has dropped and I feel detached. She has accomplished so much these last few months! She has pretty much caught up to her age. All except the crawling which is coming soon! Now the uncertainty sets back into place. I don't want to do this again. I don't want to watch her suffer while I just have to sit and watch. I just want to either cry hysterically into my pillow or else punch a hole in the wall and I'm not sure which would make me feel better. So instead I'm asking for prayers and happy thoughts to be sent zoeys way. Long days ahead with tests and decisions.

sicky babies

Wow have the last few weeks been stressful! I know I am a bit of a germ freak when it comes to my kids. Being a first time parent, I was horrible. I don't think Joseph and I left the house for the first 6 months of his life. Over protective? oh very. However for the first 6 months of his life he didn't get sick. Not even a cold. Once I started going out, the colds came. Now with my second child, I wasn't as protective of her and the outside world until that horrible June day when she was diagnosed with infantile Spasms. Then it was germ phobia again. Only this time much much more serious. Her immunes were down, and she couldn't even get a flu shot to help protect her from the flu for the winter. She couldn't even be by people that have had their vaccinations recently! We became hermits again in our house. She had a few colds, but nothing serious. Finally, we were given the ok to go back out into the world. Within 2 weeks my little Zoey started with a fever. Small at first, I didn't think too much of it. Then she grew hotter and hotter. We went to the dr. office and she was up to 102. Within an hour it was up to 105, and was taking Tylenol and ibuprofen. I have never seen a temperature that high before. However, the thing that scared me the most was the worst thing that could happen. seizures. It started out as her little arm twitching, but as her fever grew the seizures grew worse as well. Luckily, we saw a Dr. who know all about infantile spasms and told us that these babies are more susceptible to having seizures with quickly rising temperatures. Good news in a way, but I didn't like it still.
After going to the hospital and getting blood work and an x-ray, we found she has a bacterial infection. At least antibiotics will be able to help this time! I am now back into the worry-about-everything phase again. Any time she stares at something, is she having a seizures? when she stops chatting, is she having one? I was finally getting over those concerns and now I'm back to square one. She has caught up so much since she has been off the medication! She is all caught up in her vision. Even her physical therapy is going great. She is doing exactly what she should be. The only thing we need to get her doing is crawling and then walking! She is so very close to crawling. She is up on all fours and rocking back and forth. The last couple days she is even moving her arms...just have to get the synchronizing legs going and she will be on her way! What was the point of all this you may ask? a couple of things. 1) for all those moms out there with the same germ phobia. Do what YOU think is best for your baby. Doctors know books, but you know your baby. I'm quite happy to keep my babies healthy as babies. They have their whole life to catch colds latter and though it's not fun when they are sick no matter what age, at least they can take medicine to feel better. Just my opinion, but it works for me! Also my one big regret dealing with Zoey's struggles has been that I didn't listen to myself. James and I both felt like we should try to ACTH medication at the beginning. However, talking to Dr.s and their opinion being that she would be better off with Vigabatrin, we caved and did it their way. If only I would have listened to my mommy instincts Zoey would have had 2 more months being seizure free.  If only is a dangerous thing to have floating around in your head. Sadness can consume you. You have to fight it off and be happy in the NOW! Zoey is beautiful, and happy. That's what's important. 2) Everybody has their own opinions. That's what makes life interesting. No one is the same. We don't think the same way. It's wonderful to get advice from others because sometimes you feel as though you have done everything, but a different perspective gives you more ideas. Saying that, don't judge a mom for being the mom. I understand that sometimes I am being overprotective, but seeing my past, it's what's best for my kids. Not YOUR kids. My kids.
Sounds a bit mean, but it's not meant to. I am reflecting on things that have happened during my years as a mom, and these were things that I struggled with.
Now onto happier things! We are trying to sell our home.. trying, but no luck yet. We wont be going far, just down the road, but it will be good to get a bit more room. Still we aren't in a rush and we love our house and all the memories so whatever happens, happens. The kiddos are so funny together and love to play with each other. I have such opposite kids! going into our well child checks, Joseph is 97% height and 95% weight. My beautiful brown eyed boy. Zoey on the other hand is 5% in height and 3% weight. Bless her she is tiny. Tiny, but healthy. The dr. isn't worried about her because she is perfectly proportioned and thinks she is lucky enough to get the short genes from her mom.. All in all things are getting better now, sickness is going and hopefully we will stay that way.

New Year

I have been a bit neglectful of my blog in the last month so now it is time! The fundraiser went well, but could have been better. The stupid weather didn't help us at all, along with the freezing cold building we were in... These things happen I suppose and lessons have been learned! Saying that, we actually made a HUGE amount! We ended our fundraiser with $6,637! Thanks to all who donated, your donations have been sent in to help further along the research for Infantile Spasms. I am going to leave my donation page up, you may donate as you want and as soon as I get it I will put it into Zoey's account and send them on. We now will be working with the Child Neurology Foundation closely and they can send us information while we then present it to others. This was such a big deal for our family. As a parent you feel so helpless when your child is struggling. This was something I could be in control of. Something I could DO for my Zoey. As for my cheeky daughter she is plugging away. She still doesn't have much interest in getting on her hands and knees to crawl, but she is trying to cruise now. She loves being on her feet, but balance is still an issue! She looks so tiny to be walking! This month her and big brother Joseph will be going to the doctors to get their check ups and make sure things are well from a basic view. Zoey should be able to get her vaccinations now, but mommy is still a bit nervous about her immune system and haven't decided if I want to wait a bit longer to start catching her up. She did get the clear from her neurologists though. She still has to meet with them every 3 months for 6 more months, but then, as long as no seizures happen, she is free to be free!
Christmas was a fun for our little family. We celebrated with our cousins and had a blast getting ready for Santa to come! The kids got lots of fun things, like a kitchen, play food, chef hat and apron, light up rolling ball, caterpillar, new chair and lots of clothes and even more toys! Having both josephs and zoeys birthday in December too makes it a very busy month!! I am now the mommy of a 3 year old handsome, crazy, and fun boy and a beautiful, angel, happy 1 year old girl!
We also celebrated the new year with my brother and his family finally getting to bring baby Lochlan home from the hospital! Another perfect baby that is strong and a fighter! he was born prematurely at 1 lbs. that was not a typing error. 1 lb. he is now I believe almost 6 months and around 7 lbs!  I must say that I am so very happy 2013 is gone and isn't coming back. What a stressful year for our family and I'm hoping 2014 will be much less so and full of these babies showing off all the things they can do. Watching my brother and his wife take care of this tiny little baby takes me back to months before. They looked exhausted, but their faces light up when they look at their little boy. The things we do for our children. They make you cry, and want to punch holes in the wall, but then out pops a smile on their face and all is forgiven.
Not entirely sure what the purpose of this post was for, but at today looking at my kids, I'm happy. My heart still sinks sometimes watching other babies, but when I look at Zoey, really look at her, she is perfect. She is happy. Keep moving forward and trusting that there is something more out there for her and she is going to go find it.