Seizure Update

A few days ago V and I took another trip to the St. Louis Children's Hospital/Washington University to meet with her neurologists/epitologist. It had been around six months since our last seizure scare and visit to the doc's but this trip wasn't due to any scare, luckily, this visit was just a check up. In fact,  I had no concerns what so ever. It was nice!

There's not much to say really, which is a great thing to finally be able to say! Vada's last known and proven seizure was around the time she started the ACTH injections, which was around a year and a half ago. Since that time there have been many questionable moments, movements, and behaviors but thus far we(I) have been wrong and her seizures have been controlled. Again, another great thing to be able to say!

What this all means is that this coming August/September of 2012, will be her Vada's two year anniversary of being seizure free! A monumental moment to celebrate! It also means tapering time, something else to celebrate but also something that has a dropped another heavy anchor into the very pit of my stomach-- even my heart is bogged down with overwhelming concerns. I keep telling myself that this too is progress and progress, no matter how difficult to endure, is good.

Currently, Vada is on three medications to help keep her seizures under control. She is on Levetiracetam (Keppra), Valporic Acid and L-Carnitine (to offset ill side effects caused by the Valporic Acid. The first step is to taper or wean her off of the Keppa and both of her doctors agree that it is time. However, they both said that if i'm not ready then we can wait. I used the inallagy of a child not wanting to have a bandage removed because they know that it may hurt, therefore, usually, its done quickly.  I then told Vada's doctors that I will never be fully ready to take this chance (I am just fine being in this comfort zone--thank you very much!), so like the bandage situation we just have to do it. Quickly, however, is not how her weaning will be done. I have been given a schedule that will slowly, over ten weeks, take her off of the Keppra.

After those ten weeks Vada will remain on the other two medications until we return for another check up in or around July 2012. If everything goes well, we will then begin to wean the remaining anti-seizure medications and by Aug./Sept. (her two year anniversary of being seizure free), she could be completely off of all seizure associated medications!

I have to keep telling myself, "one day at a time" and "slow and steady" but things are going beyond well. I pray that they continue to be so. Our lives have settled down considerably and things feel "normal". Its been nice. I don't want to go back to where we've been, I want us to keep moving forward but I guess even if we do have setbacks, that's exactly what we will do anyway..., move forward.

A Speedy Wean

Not a whole lot has changed since we have last seen Dr. Jennings. Vada has put on a good chunk of weight, which has us all a bit concerned. She is over nineteen pounds now and hasn't really grown in length. Currently she is wearing 6 to 9 months in pants but 12 to 18 months in tops because of her upper body and head size. Her weight gain is because of a few different reasons, but they for the most part, they lead back to the ACTH.

The first contributing factor is from what is called Cushing's Syndrome, not to be confused with Cushing's Disease. It is very apparent in her face, neck and abdomen. To control the CS Dr. Jennings is weaning Vada off of the ACTH quicker than planned, by one week. Her original day to be off was November 19th, now it's the 11th. There has been no signs of seizures since she was first placed onto ACTH so it seems like a safe thing to do.

Another side effect of ACTH or any steroid that I have ever been on, is being hungry all of the time. Vada wants to nurse ALL OF THE TIME, especially at night. During the days usually aren't too bad. She wants to nurse every two to four hours which is more common in a new born than at her age. She has however taken to solid foods and that also seems to subside her a bit. She wont take a bottle, which is fine, but I am trying to introduce a 'natural like' sippy cup to her, with water. Shes not too interested in that either, but on that, I will be persistent in constantly reintroducing it. By giving her water I am hoping to cut down on her calorie intake, but first she has to start drinking the water.

It's the night feedings that are the worst. Between the time she falls asleep (about midnight) and all of the times that she wakes up to nurse, her and I do not get much rest. There have been times when she has woke up seven times wanting only to nurse and nothing will calm her but nursing. Usually, its about five times though. Not letting her nurse is really not an option. When she wakes up she is in a decent mood. Tired and kind of out of it, but knowing what it is that she wants. If I try to hold her off from nursing she becomes agitated and her body movements become distorted and tightened, like she is very uncomfortable. It's not quite a tantrum like you may be thinking. It's hard to explain. It'll escalate until I do nurse her. I don't like attempting to hold her off for too long because then I become concerned with her heart issues. In my opinion she has enough stress on her heart as it is. Since the doctors know of her eating/nursing pattern and have never told me to stop what I am doing let alone change anything, I plan on continuing our nightly binge nursing sessions.

To help with her appetite we are trying the drug Topamax. If you follow my blog then this name will probably sound familiar to you. It is something that I brought up a couple of weeks ago. We were going to put her on it because she was having a hard time taking the Keppra. Actually, I was having a hard time getting her to take it. However, I figured out a way that works and we decided against the Topamax because the amount she would be taking would actually be more than if she just stayed on the Keppra. Now, however, the theory is that the Topamax has a side effect of making you sleepy and not hungry. It doesn't sound ideal when you are thinking of having a baby use it, but in our situation it sounds like the right choice. We have to wait until Monday for our pharmacy to get it in because Dr. Jenning's wants us to try the powered form that comes in capsules. He thinks by adding it to some solid food she may have an easier time ingesting it. One can only hope.

Other than the slight shift in medications nothing else was done today! Especially, no lab work! I did make it a point to ask Dr. Jennings again about when he thinks it would be okay to bring Vada back around friends, family and the general population again. Since Justin was with me I thought it would be a good thing for him to hear straight from the doctor.

On a side note..., in the beginning of all of this I had a friend who had already been through this situation with her daughter tell me about the isolation that would take place. I had my doubts in its extremeness, so because of my doubts I feel as if other may have the same ones. It does seem a bit crazy that Vada cant go to church with us or to family functions or even that we cant have anyone here at our house. A little too extreme, maybe. However, after educating myself on the situation, I will keep her away from everyone for as long as I am told to and I wont second guess it because I know how important it is for her health.

Having Justin hear it from Dr. Jennings kind of reaffirmed things for me. Since Justin had yet to meet Dr. Jennings let alone come to one of the neurologist apportionment's, I was nervous that he thought perhaps that I was over reacting..., you know, being overly protective.

Here's the deal, straight from Dr. Jenning's mouth "Not a good idea until after Easter".

Why Easter? Well, Vada has about three more weeks of the ACTH. Then she has to get it out of her immune system before her immune system can start building itself back up. Then, we have to go back to her four month vaccines and slowly start to get her "up to date".

Some of the vaccines she will never be able to get due to their history of breaking down the barrier for seizures or possibly causing them. Getting her "up to date" will obviously take time because there are several missed vaccines as well. Plus, she was already on a slower vaccine schedule due to her heart issues.

IF Vada were to catch a cold it is very possible that she would not be able to fight off whatever she caught and it could be fatal. Since we are now getting into the Winter and cold/flu season waiting until Spring is a safe plan for Vada.

So depending on the weather, how Vada is doing and how the rest of the family is feeling (because we get sick too) we are planning on bringing her back out into the public..., to church on Easter Day.

Location, Location

As most of you know Vada and I met with the Geneticist; Dr. Hoganson, yesterday. We had gone to see him because originally they thought that Vada had a condition called Methalmalomic Acid Anemia. Turns out she us has low B12, which is great, especially compared to the MMA. The low B12 is treatable.

Prior to this appointment we had gave gave Vada a weeks worth of daily B12 injections. Then they re-tested her levels and her B12 sky rocketed. So, now we are just going to monitor those levels to make sure she is doing alright. We also put her on Poly Vi Sol, which is a daily vitamin.

We kept our appointment with Dr H. just to be able to discuss any concerns or any other findings he may have had. The whole visit was quick and easy.

We also discussed my lab work that was done the week prior to this visit because we were concerned that I may have very low levels of B12 which was in return causing Vada to have the low levels. Turns out my B12 levels are low, but not too low. I also have low iron and my Thyroid is low as well. I wasn't really surprised since I have been mildly anemic since before my pregnancy with Vada and I have had Hypothyroidism since the birth of Kiliegh. All I need to do is take a better daily vitamin and bump up my Thyroid medications.

Before we left our meeting with Dr. H. I asked for a copy of Vada's Karyotypes. His staff said that they would look into it and get back to me on it.

What does having a copy of Vada's Karyotypes mean? Nothing, except I would be able to see the third, twenty-first chromosome! I don't need proof that Vada has Down syndrome, that's not why I asked for my own copies. I asked for them because the opportunity to see your own child's Karyotypes does not often come up. Most people will never have this chance, which is fine, but since I am in a situation where I can see them, I'm going to do so. Carpe diem!

After meeting with Dr H. we had to wait two hours before we met with Dr. Jennings, the Neurologist.

The visit with Dr. J. also went smoothly. No surprises, no real concerns. Everything is pretty much staying the same. We are continuing to wean Vada off of the ACTH and if everything goes well she should be off by mid November. We are changing her "maintenance" medication from Keppra to Topamax. She HATES the Keppra, it's incredibly hard to get her to keep it in her mouth let alone to swallow it. Were hoping that this new kind will be better for her to take. That in return would be better for me. It is so stressful knowing that these medications are her life line. If she doesn't take them the seizure will can come back and will take over. If I cant get here to take them, then it's my fault. Irrational or not, that's how I feel.

So the appointments were yesterday. Earlier this morning Dr. H's assistant called me to let me know on the progress of getting the copy of Vada's Karyotypes. She said something about them being archived and that it may take a couple of weeks to receive them. She also said that I needed to directly contact the hospital to sign release forms. No big deal.

The next thing she said was very unexpected. She asked if I was aware that Vada has Translocation Trisomy21. At first my heart started to race. At first I was confusing Translocation with Mosacisim . I knew what both were, I just got swept away for a second.

I was not aware that this was Vada's full diagnosis; Translocation Down syndrome. In all honesty, it doesn't mean anything different for Vada. Just an extra word to add on to one of her diagnosis.

For us, Justin and I, it could mean that every child we have from here on out would have Down syndrome. That would be, if one of us were in fact a "balanced parent". There is something like a 1 in 4 chance for that to be our situation, so for "piece of mind" she suggested that if we planned on having more children in the future, we should get genetic testing done.