Friday, May 21, 2010

Serial Casting

We are still waiting for "little sister" to arrive. Could be any day now!

While we wait, Addy is going through serial casting. This is a series of casts that will be put on her feet to try and stretch her ankles out. Each week a new cast is put on and the ankle is given just a bit more of a stretch than when previously placed in the cast. The end result is hopefully looser ankles with more range of motion. The doctor is thinking that 3 weeks worth might be good, which I am fortunate for as many children need about 6 weeks of casting. We decided to start now to get it over with before the weather gets very warm. The downfall is the weight. I could barely lift Addy before having the casts put on and now she's even heavier. She's sweating like crazy with them on and we can't give her normal baths so we have to do the sponge bath at the kitchen sink. With little walking boots put over them, she is still able to get around using her walker, just a little bit slower than before. We have tried to talk very positively about them and she was excited to go to school/daycare and show them to her friends. She's been a trooper so far.

Today we also had Addy's IEP to begin attending a POHI preschool program in the fall. This will be a program for students with physical and health impairments. Yes, exactly the type of program I have worked in for 8 years. It still seems surreal to me. It was very strange sitting on the "other" side of the table. I am fortunate that we have such a wonderful program in our county right around the corner from our house. Our goal is to have Addy attend the preschool portion for 2 years and then transfer back to her home school. That's our goal, but we know that we have to take it a year at a time and see how she progresses.

Wednesday, May 12, 2010

A new kind of "normal"

It was off to muscular dystrophy clinic today with Addy. Our first experience turned into one I will never forget. The expectation was to go and see several people (neurology, dietician, OT, PT, orthotist, nurse practitioner, genetic counselor, and equipment vendor). I expected to not have much to say to everyone other than neurology. We are already followed by many of the other specialties, so I was anxious for the neurology piece to get the results of the 24 hour EEG, talk more about the Klippel-Feil diagnosis and discuss what are next step is going to be in order to figure out what is going on with her muscular wise.

Well, neurology couldn't have come at a better time. Just as we finished talking with everyone else, the neurologist walked into the room and BAMMMMM........Addy had another seizure. This was only her second one since the one in March that was presumed to be fever/viral related. I was absolutely stunned at the fact that, first off, the seizure was occurring in the first place and secondly that it was occurring with a neurologist standing in front of me. I guess if it's going to happen, there is no better time or place.

The seizure looked much like the first lips, difficulty breathing, complete tenseness in her body, urinating herself, but eventually coming out of it okay and somewhat alert. Surprisingly, I was very calm this time around, I think because I had the doc standing there with me. Addy then fell asleep and we proceeded to talk. The EEG did show spikes in the frontal lobe area of her brain. This means that she has the potential for seizures to occur. Before the doc came in, his decision was to not start her on meds unless another seizure occurred. Well, we are now on meds. We are starting out on Trileptal with is a med given for partial seizures. Not too many side effects, just some possible drowsiness until she gets adjusted to the meds. The odd and interesting thing is that several days before the occurrence of the first seizure, Addy's speech changed and stuttering began. Over this past weekend, we noticed a change with her speech again. She was having difficulty talking and Aaron and I both noticed and mentioned it to each other. The speech change wasn't as drastic as the first time around, but there was a noticeable difference. I guess this will now be a warning sign for us.

The diagnosis of Klippel-Feil has been confirmed for sure, but the doc also thinks that there is definitely something else going on related to her muscles. The recent EMG came back normal as well as the blood test to test for dystrophy. Therefore, a dystrophy of any sort is ruled out......thankful for that, but we still don't have answers as far as the muscle weakness is concerned. Next step.....muscle biopsy. This is a procedure in which she would have to be sedated and they would actually cut a piece of muscle out of her leg to biopsy. The neurologist thinks this may be the only way to find out what is really going on. Will it change how we treat her and work with her, so with that being said, the decision now lays in our hands as to whether or not we want to go through with it. I'm torn about it. I want to know and I think it's important to have the answers for our family history, but I also don't want to put her through the procedure as I hear it's not pleasant. We will continue to talk and eventually make a decision.

We also had so many other things come out of the clinic today, but I will spare you the details as not to bore you. Maybe those will come about in another post.

So, now we adjust to a new kind of "normal". Just when I thought we were getting answers and things we going to settle down before the baby, we are hit with one more thing. All I want and pray for is that we can find this new "normal", deal with it, control it and stop finding new things.

I will leave you with a pic of "like father, like daughter"

Friday, May 7, 2010

Happy Birthday to my little girl!

Happy 3rd Birthday to my precious little girl.

Dear Addison,

3 years ago today you were born into this world. I can remember how excited your daddy and I were. How you changed our lives in so many ways on this very day:

-You made us parents for the very first time
-You brought instant joy and made our "family" complete
-You turned 2 people into grandparents for the first time and brought such happiness even for those experiencing it for the second time around

Over the last 3 years you have:
-Shown us what it means to be a fighter
-Given us strength that we never thought we had
-Brought joy instantaneously to everyone you meet
-Achieved things that some may have thought were never possible
-Allowed us to see that the simplest things is life far outweigh the bigger things
-Spent everyday with a smile on your face no matter what obstacles you might be facing

Addison, as I write this today, on your last birthday as an only child, I am forever grateful that you are my daughter. You have a smile and personality that lights up a room and I could never wish for anything more. Although we may not be able to predict what the future holds for you, I know you were given to us for a purpose and that you will go far in life no matter what direction that may be. However, I can predict the next important step for you. That is becoming a big sister for the first time. I have no doubt that you will be the greatest big sister ever. I look forward to you taking on this role and showing your little sister the best things in life as you two grow old together.

Today the tears flow. They are tears of happiness and sadness at the same time. Sadness that you are growing up and all I want is for you to forever be my baby, but also tears of joy that you are the wonderful little person you are and we are so lucky to be your parents.

Happy Birthday Sweet Girl and always, always keep that smile on your face.

Love, Mommy

Here are some pics from Addy's 3rd birthday party:

Wednesday, May 5, 2010


Well, I'm sitting here at the hospital watching Addy sleep for her 24 hour EEG. Kind of weird just sitting here watching someone sleep. Actually 2 people, since Aaron is with me so we can take shifts.

It's a video monitored EEG which means that along with her brain activity, she is being recorded on video as well. So, I am also staring at her in the monitor screen and watching to make sure the EEG monitor stays consistent. I have a button to push each time I see an odd movement from her which in turn they then go back and look at on the video and EEG to determine if it could be seizure activity. So far, no button pushes.....and I don't foresee there being any. We don't normally see anything with Addy that would indicate seizure activity, however we have never watched her sleep before and since a lot of seizures can take place at night, I guess it's at least something to watch for and rule out.

We also had her EMG testing done 2 weeks ago. This was a muscle conduction test to check for nerve velocity. The first part of the test requires a probes being placed on different muscles, which they then send an impulse into the muscle to see how it is transmitted. Each time the impulse is sent kind of feels like an electric shock. Addy was given a small does of sedative through her nose before the procedure started, but I guess it's just used as a calming mechanism and didn't actually put her to sleep. Therefore, with each impulse sent, she complained. I can't blame her. The second part of the test was worse. They actually stuck very thin needles into the muscles. She complained even more for this. However, everyone involved commented on how well she did as most kids cry a lot and Addy only complained. Coincidentally, Dr. Acsadi's wife (who is a neurologist for adults) was helping to run the test because the technician was learning the new technology. Therefore, when the test was finished, she was able to tell me that everything looked normal. The only thing found was a slight decrease of muscle function near the foot/ankle area, which could be a result of underdeveloped muscles. At this time the results of the EMG will probably read "congenital myopathy" which continues to be a very broad term and really doesn't tell us anything.

We then went for a blood test the same day to rule out any dystrophy. The nurse promised to call me with the results, but still haven't heard anything. So, while we are sitting here at Children's I already have requested a doctor to get me the results. Was told I should get them in the morning. I am hoping that the lack of a phone call means that the test results were normal.

We are heading to Muscular Dystrophy clinic this Wednesday where we will see Dr. Acsadi again. I will be able to discuss the results of the EMG, blood work and EEG there. Also will be able to find out what our next step will be. Dr. Acsadi's wife felt that a muscle biopsy would probably be suggested. I am very torn about this if that is what is suggested. It's such an invasive procedure, so I'm not sure if I will go through with it. Many questions need to get answered before I make a decision. Here are some pics of Addy during the EEG.