Quick Check-Up

Cora saw Dr Mason last week for a quick check up. He seems to think that she is perfectly on track even though she isn't saying any words yet. That was refreshing. He also said that her eardrums look great and that a lot of babies her age are as skinny as she is, which really isn't that surprising if they all run around as much as she does.

We are really looking forward to Hawaii but were nervous about the red-eye on the way home. Luckily, Dr Mason told us we could give her a little Benadryl to help her sleep.

We are anxiously awaiting her first real word. Maybe Hawaii will bring out the best in her!

Last Office Visit?

We had her follow up on Friday at the pediatric neurologist's office. She was so happy with her progress (walking and babbling) and said not to worry about her not saying any words yet since she is obviously talking in her own way. At first she didn't want to do a follow-up EEG at all but then decided we probably should just to make everyone feel better but she needs to be off meds for a month. I told her we would get one when we come back from Hawaii in Jan so just in case we do get bad news, we don't spoil the vacation. She said "That is such a healthy way of thinking and so smart, I am impressed" I was sort of surprised I said it too.

We have been so caught up in how fragile Cora is for so long that we have forgotten how to be normal. We are finally finding ourselves saying things like "she is being a pain" or "what a dork" without (huge) pangs of guilt for making fun of/being frustrated with/or mad at a sick baby.

So we can't write the whole ordeal off yet since she still has an EEG in Jan but Dr Metrick said that all the patients with IS that she has had, that have gotten healthy, have remained healthy. So that is really reassuring and we feel confident that her EEG in Jan will be normal and that we won't have to go back to see Dr Metrick.

Neato

I saw this on a good friend's (Aly) blog and I decided to make one. I think it is a really neat way to look at our little experience. The larger words were used more often.



If you want to make one go here - Wordle

We're Done!!!!

We just gave Cora her last pill! 140 days on Topamax. We don't know if our journey is over or not but it was thrilling to end the meds. She is eating so much better and in general is happier. She is also a lot sweatier. We knew that the drugs could cause her ability to sweat to decrease but we had seen her sweat so we didn't worry about it. Wow she is a sweaty little piglet and we are loving every minute of it.

She is also walking a lot now. She still thinks crawling is easier but is choosing walking more and more. Now we hope that with an increased appetite she can fill up during the day and maybe (oh please oh please) sleep through the night.

She has a follow-up with Dr Metrick on the 24th to discuss what our plans for the future are and I will update then.

YAY!!!

The Weaning Begins

Sorry it has been so long since we updated. There really has not been much going on since her last appointment. She is still seizure free, which thrills us everyday and is constantly on the move. She has taken a few quasi-steps, so we expect her to start running circles around us at any moment.

Her birthday was a huge success. She is so lucky to have so many people that love her.

We officially started weaning her today. Instead of having 2 pills this morning she only had one. The schedule looks like this-

Week 1 - 1 pill am & 2 pills pm
Week 2 - 1 pill am & 1 pill pm
Week 3 - 1 pill pm
Week 4 - DONE!!!

We are so excited and a little nervous. We just really feel that her appetite will return and she will start sleeping better when she is weaned of the Topamax. After this is all over we will have a follow-up with Dr Metrick and then a month later we will have one with Dr Mason.

Wish us luck!

The Follow-Up

Her EEG was "completely normal".

Dr Metrick was grinning from ear to ear and just kept saying that she was thrilled and excited. I thought I was going to cry. She said that the Topamax may be making the hypsarrythmia go away but the other patient who Topamax worked for didn't get a clean EEG the second time so she is confident that the Infantile Spasms has resolved. To be on the safe side we are going to keep Cora on it for another month to allow her to slowly grow out of the medication (sort of a passive weaning) and after the 4 weeks is up we will actively wean her. So now we are just hoping that it has truly resolved and that the spasms won't reoccur with weaning. We just can't believe that in 2 months we will know if this is all over for us.

Kris pointed out that we have really only received good news since we received the bad news. He is right and we feel so lucky and so proud of Cora for being such an amazing fighter...and so cute.

2nd EEG

Cora had her second EEG today. Again it wasn't a very fun process but the tech this time was way faster and Cora went right to sleep after everything was put in place. We won't know the results until Wednesday at her appt but we will make sure to update as soon as we can.

Here are some pics -
During the EEG





After the ordeal




She is such a good sport!

Off Iron

Cora is finally off her iron supplement. I am so glad that is over. Even though she was really good about taking it, I know it was yucky and I am glad to have it removed from our morning routine. I am going to keep feeding her iron fortified cereal and should probably up her veggie intake (mine too for that matter). This is prefect timing because we were almost out of drops and I don't really want to shell out the cash for some more.

72 days on Topamax

I was staring at my organizer today in awe of the number I saw - 72. 72 days on Topamax. I don't know why this number seems so huge when 71 didn't or 30 or 55. It just hit me that it has been a long road and we still don't know where the end is.

Dr Metrick's office was kind enough to give us some more free samples. They are a very kind bunch of people. It's amazing how expensive everything is right now and they seemed to understand that every little bit helps.

We had a great time in Goldendale last weekend and next weekend we get to take part in a Natural Parenting festival called Greensprouts. We are very excited to be part of the baby-wearing fashion show. We will post pictures of our time on the runway.

Just One Month To Go

We just need Cora to stay seizure free for one more month. If she stays seizure free we can get her an EEG and see what her brain is up to. We know that is isn't a guarantee that we can start weaning her off of her meds but we are still looking forward to it. Wish us luck.

Growing and Growing

Cora is standing on her own really well now. And that tooth finally made its way through today. She is a babbling fool and we can now tell when she sees Cowbell or Baron so her language skills are definitely developing.

Her iron levels are now normal and we are anxiously awaiting the okay to take her off the iron supplement.

Here are some recent pics -





To see new pics of Cora go here
http://www.flickr.com/photos/the_hoyts/
You need to have friend or family status in order to see pics, if you need help with that just email me and I will help you out. You need to sign up for a flickr membership, it is free and easy.

An artcle in Parenting Magazine

I came across this on another mother's page. Her son Charlie was diagnosed with IS in a very similar way to Cora. He is doing really really well.
http://www.parenting.com/article/-/Health/Love-and-Instinct
It is spookily similar to Cora's story and it brought me a lot of comfort.

One month seizure free

Cora has been seizure free for over 30 days. It has been so great having our little girl back to herself. She is getting into everything and trying to stand on her own. She is also getting her fourth tooth. So she has the two middle ones on the bottom and two fangs. It is hilarious.

We also found out that she is anemic. So we have been giving her iron everyday. She hates it! And I don't blame her. I tasted just a tiny bit and it tasted like I had carried gross dirty change in my mouth all day. This is totally unrelated to the IS, just one of those baby things. So we will go at the end of next week to get her tested again and hopefully we can stop giving her iron.

We are just looking forward to the end of September. If she is seizure free then she gets her EEG and her follow up appt. She also has her 12 month Well Child Check. That means vaccines but we like going and seeing Dr Mason. And of course her 1st birthday. I can't believe she is already 10 months old.

Neuro Appointment

Cora had her follow-up neurology appointment today. It went really well. Dr Metrick was thrilled that she has been seizure free for this long (21 days) and is impressed with her continued developmental progress. The plan is to keep her on the Topamax, increasing it to therapeutic doses according to weight and just keep her seizure free. If she remains seizure free for two more months we will do another EEG. If the EEG shows no hypsarrhythmia then our understanding is we will begin to wean her off of the Topamax; if it does we will continue treating in the same manner.

Dr Metrick is also pleased that no tubers were found in her eye exam. She said that the fact that there is no diagnosis is actually a good thing, it gives her better odds for coming out of this unscathed. Not that there really is such a thing as odds with Infantile Spasms. There are so few cases and they vary so dramatically that it is almost impossible to connect the dots or come up with figures. That doesn't sit well with Kris' analytical mind and my control freak tendencies but we feel that if they see some sort of connection to undiagnosable cases (idiopathic) and positive results, that is enough of a statistic for us.

We still live with the fact that we may be raising a developmentally delayed child and that it could develop into other kinds of Epilepsy (one in particular that is just as damaging as IS), but that has moved to the background quite a bit since Cora continues to amaze us with what she learns everyday. And of course how absolutely adorable she is always helps :)

Woo Hoo!

Cora had her eye exam today and they didn't see any tubers. This is hugely relieving! That, I believe, is all the testing we are doing for Tuberous Sclerosis. We know we can't be 100% sure she doesn't have it, but it really looks that way.

Also Cora has been seizure free for a week. She has learned to crawl, pull herself up on the furniture and loves to clap. It has been a really great week for us. We still need to up her Topamax to the therapeutic level for her weight (which is still a very low level) for a couple of weeks. If she is still seizure free we will get another EEG to see what her brainwaves are up to.

It's been a good week.

Cautious Optimism

It appears the minuscule dose of Topamax we are giving Cora is making a difference. She only had one episode of 8 spasms yesterday. We know that some drugs only work for a short period and then for whatever reason stop but this really encourages us that a low dose of Topamax is going to be enough.

As far as side effects go, we haven't really noticed any. She might be a little sleepier, a little fussier, and possibly it is harder to get smiles from her. However she did cut her first tooth this week and it is very likely that what we have seen (or imagined) is related to that. After all we know when one tooth comes in another follows shortly, so she is probably in a good deal of discomfort due to that. And honestly, if this is our child in the pain of teething, then we are really lucky because she is taking it on really well.

We will up the dosage on Thursday and will continue to do so for 3-4 weeks. If at that point her seizures are gone then we will get another EEG. If they aren't then we will consider another drug.

It's a small victory but we will take whatever we can get!

Our Journey Begins

On June 10th I noticed Cora nodding her head in a weird way. She did it about 6 times. Kris and I chalked it up to her being the sweet little weirdo she is and left it at that. However I saw them again two days later. I filmed them and called the doctor and they told me to monitor it and bring it up at her Well Child Check (WCC) appt the next week. They increased, and I called back. She had 4 episodes of any where between 2 and 30 "nods". They got us an appt with the doctor on call. I showed her the video; she told us not to worry but that she would refer us to a Pediatric Neurologist. By the time Monday rolled around I was a wreck. I called her primary care physician crying, saying that Thursday (her original WCC time) was too far away. They got me in that day. Dr Mason reviewed the tape and said not to worry, Cora was developing just fine. She has reached all of her milestones and is a very happy baby. He did however get us an appt at the Pediatric Neurologist for an EEG on Monday the 23rd. Although he tried to reassure us, Kris and I left feeling full of dread. That feeling only worsened as the day went on and by the next morning we were both a complete mess. I called the EEG dept and begged for a sooner appt. They got us in that day.

I know I sound like the worst sort of patient (or mother of a patient) constantly calling and making them see her sooner, but it was the only thing I felt I could influence. I couldn't change the outcome but I could try to control how quickly it was addressed. Not knowing what was going on was almost the worst part. The EEG was less than fun. No one should have to see their baby with wires bandaged to her head. However it is a painless procedure and she fell asleep as soon as everything was in place. We got the call the next day. I feel so bad for doctors when they have to share bad news. Cora had been diagnosed with Infantile Spasms, a rare and serious form of epilepsy. Although we were expecting it, it felt like I got hit by a truck. Poor Dr Mason had to try to tell me what to do next through my sobs. I don't remember anything he said besides we needed to start a drug called ACTH. I immediately called Kris and he came home from work. I called my aunt DeAnne and my mom. My mom caught the next flight of the island.

What happened afterwards was a blur of calls from insurance companies, looking things up on the internet, learning about drug treatment and of course crying. The next day we received a call from the company that was ordering the ACTH for us. They informed us that the cost of the drug with our insurance was going to be 29,000$, yes that is 3 zeros. Any composure I had left was gone. We were talking about filing bankruptcy or selling our house. It had been 9 days since I saw that first head nod and now our lives were unrecognizable. Well jumped on the phones. I called Tom (Kris' and my previous boss) to see if I could get back on the insurance that he has at his company in hopes that their Rx plan was better. We called everyone, Dr Mason, the neurologist (Dr Metrick), and the company that was robbing us blind. When we got no answer from anyone, we showed up at Dr Metrick's office. There was no time to sit around and wait for them to call us, we needed action NOW! There are other drug options out there, one in particular we were interested in and we wanted to know our options. Dr Metrick was not in but her nurse was. She wrote down all of our concerns and called us that evening saying that Dr Metrick wanted to meet with us the following morning.

Friday morning we arrived at Dr Metrick's office. She is a very sweet lady with a very hard job. She looked Cora over and asked if she had any birthmarks. I pointed out her white one. Apparently this, coupled with the IS is a symptom of Tuberous Sclerosis Complex (TSC). She asked if either of us had them and I told her I did although it had blended in now which means it is possible that I am a carrier for the mutated gene. Many people live with TSC and never know they have it. Especially if they, like Cora, have no developmental delays. If she didn't have spasms we would have no idea. We set up and MRI for Monday to confirm. The good news in all of this is the drug we were interested in, Vigabatrin, is the first choice for IS caused by TSC. It isn't approved in the US because it can cause some field vision loss but every other country always uses it first. It isn't a steroid so it is safer and we can easily get it from Canada. Oh and it is like 1.50$ a pill. Much better.

Her MRI went great. She only needed a little gas. They had to stick our pudgy girl a few times to get a good vein for the contrast portion of the MRI but all in all she came out sleepy and unfazed. We got a call from Dr Metrick's nurse, Jennifer, first thing Tuesday morning. She told us that her MRI came back perfectly normal. I was in shock. I had totally wrapped my head around the TSC diagnosis as devastating as it was. She told me Dr Metrick would call later to discuss meds. When she did call she seemed as shocked as I was. She said this was very good news and although we can't rule out TSC 100% the MRI was very encouraging. Most babies that are having seizures caused by TSC already have lesions in their brains. We do still need to get her eyes checked since lesions can show up there and it is an easy benign test to do.

We have decided to start her on Topamax, an anti-seizure medication. There really isn't a "good choice" when it comes to medication - they all have risks and side effects that are undesirable but this is a place for us to start.

We are confident that Cora is going to do marvelously. She has a huge support system and parents that are willing to do anything for her. She is such a sweet girl and we are so happy that she is seemingly unfazed by this all.