7.19.11

So lets see...

Since my last post what has happened...

We met with Neurodevelopmental for her regular check in with Dr Walker. It was...very confusing. This was one of three departments that wanted to see the results from her brain MRI. Neurodevelopmental was primarily looking at the development of her myelin. When we had her first brain MRI at 10 months old, her myelin was only developed to about a 3 month old stage. Now, apparently, her myelin has caught up to over a 2 year old stage in all but one area of her brain. This sounds like amazingly good news and it is good, but it apparently doesn't mean anything. Or at least, they don't know what it means. Clearly she isn't caught up or catching up developmentally, even though she has made slight progress. Dr Walker didn't have any insight into what this meant for her future.

Basically, I walked out of that office completely lost. Although I knew this wasn't the root cause of all problems, I thought it was causing several of the issues that we see in Aimee. Apparently delayed myelination is just another symptom of whatever primary issue she has. Sigh... So I feel like we know less than we ever knew.

The other doctor who wanted to see the MRI was the Genetic Neurologist (the one that had given us life expectancy, ect). I emailed this doctor to see if he had looked at the results and this was the reply I received back:

Aimee's new brain scan shows the same subtle abnormalities as on her 1st
scan, plus subtle atrophy (shrinkage) of brain tissue compared to the 1st
scan. This is quite subtle although I think it is real. This may be related
to her seizures, or might be part of her underlying condition. Hard to know
at this point. The scan does not give new clues regarding the underlying
cause of her condition.

The subtle abnormalities I see on both of her scans include mildly small
convolutions over the front of the brain, mildly small hippocampi, mildly
slow maturation of her white matter, and mildly enlarged ventricles (fluid
spaces in the brain). None of these are very specific.

We have one clinical test underway (testing the gene "CDKL5"). Some
research testing may be possible, and I will discuss this with
the other physicians in my lab.

Although I appreciate his response, it doesn't speak volumes to me. Basically, in my understanding, what he sees doesn't give him much information at all. Don't really like the brain shrinkage part, but I have no idea what it actually means.

We met with Cascade Orthotics last week to have Aimee fitted for special shoes to wear when we do weight bearing therapy exercises. We will be picking them up at a follow up appointment next week. We will also be having her fitted with elbow braces and hand mits for this purpose.

Yesterday I took her in for her first real dentist experience. It was such a great one too. Since this Pediatric Dentist is affiliated with Children's/UW, they had access to all of her records. They knew ahead of time that she gets easily overwhelmed and set up a special side room to see us in that was completely quiet. It was really helpful. She was able to stay in her chair the whole time which also really helped her comfort level. All her teeth were checked and she got her first cleaning. Always such a nice feeling. :)

There are a few exciting things coming up this next month. In 3 weeks we get to have an ultrasound for little Baby DeVoe and hopefully find out gender, ect. In about a month, we get to take Aimee in for another Swallow Study. I'm very excited and hopeful that we will get positive results from this study. How amazing would it be to work towards getting her more food by mouth! I miss feeding my sweetie.

-Aimee's new nightly activity is kicking off her bar. The tricky part is finding all the pieces when she is successful!-

7.3.11

Check out the spotlight just published
in our local phone book about Erin Cox Photography!

Aimee got her first haircut last weekend from her Auntie Jennifer (Ed's sister). I have been wanting to get it cut for about a year now and Jennifer was so kind to come over to cut it for us in our home. I had been nervous to try cutting her hair (hence the delay), but it went really great. I think Jennifer cut off a good 3 inches! It seems to have actually made Aimee's hair curlier!

My Grandma Halo went on to heaven last night. I am so thankful for the amazing memories I have of her and my Grandpa Tom. My dear Grandma taught me how to garden, sew, knit, bake, paint...so many things. Wow! I am blessed by the amazing woman she is and look forward to the day when I get to see her completely renewed as she is in heaven now!Aimee has had her first 2 speech therapy appointments over the last couple weeks and we will add that to our weekly appointment routine. It is difficult to tell so early how beneficial it will be. So far, the therapist doesn't seem to quite understand Aimee. She has brought over very odd...well things I wouldn't expect Aimee to play with. A few very overwhelming toys that blow air, play music, send balls racing through tubes, ect all at the same time! And then blocks to try to teach her to knock over...hmm... I'm sure she has great ideas and I am trying to be open to her suggestions as she learns more about Aimee.

Monday Aimee had another feeding therapy appointment at the hospital. It went really, really well. They were so pleased with her progress that we may be able to have a new swallow study done. We have to try a few things first to see how Aimee can handle a bit more challenge (increasing her "bite" size to 2 mls at a time from 1 ml and then increasing her daily taste from 12 mls to 24 mls). It has been over a year since her last swallow study and she has definitely improved in the use of her tongue...although she does still choke fairly often. I am hopeful that we will be able to increase the amount of food she can have by mouth. Maybe we'll even be able to increase it to be a portion of her daily nutrition.

Tuesday we took Aimee in for a couple tests. She had a CT scan done to look at the internal structure of her ears and then she had a brain MRI done. It is never fun to have her put under anesthesia. Thankfully the anesthesiologist was really great and gave a her much lower dose than normal and also stopped it before the test ended. She only took about an extra hour to wake up this time! Not bad at all.




After she woke up, we met with the doctor in Neurology to discuss her seizures, part of the brain MRI and her medications. The result of this appointment was an increase in the daily dose of one her medicines. We haven't seen a significant reduction in the number of her seizures, although she has not had any longer than 1-2 minutes recently. We increased the medication on Tuesday and since that time Aimee has been even more emotional, with even more hysterical moods. She gets extremely, over the top excited and then very, very sad. I would definitely qualify it is as a behavior change side effect of this medicine. Bummer.

6.24.11

Wanted to share a few pictures from Aimee's Wheels Party
last Sunday for those of you who were not able to come.
We were so blessed to have friends and family
gather together to celebrate with us!

Aimee and Great Grandma
Halo napping together

Saying a big thank you
to everyone who came

Aimee laughing at Cayla and Alex

We love Aimee's new wheels!

6.18.11

Listen to the MUSTN'TS, child,

Listen to the DON'TS

Listen to the SHOULDN'TS,

the IMPOSSIBLES, the WON'TS

Listen to the NEVER HAVES,

...Then listen close to me-

Anything can happen, child,

Anything can be.

-Shel Silverstein-

Ed and I took vacation this week, which allowed him to come with me to a couple of appointments. I knew it would be wonderful to have his company, but it turned out to be really important that he was there with me.

Monday we visited the school district, where we are considering enrolling Aimee in the Fall. We met the teacher of the 2 year old class, the therapists and the nurse. We were able to see the classrooms, the therapy room and actually visit a class for a few minutes. If anything, it actually made me more hesitant to put Aimee in school next year. The class is primarily made up of students that have autism, speech delays, or motor delays. There is only one kid in the school this year that has down syndrome. It has been a couple of years since they had a student with a g-tube and they have no students that are any where near as severely delayed as Aimee. It is really hard to imagine her getting much benefit from being in this crazy, loud environment. We have decided to try out putting her in the program this Fall for 2 months. We'll see what the class dynamics are like and if she is able to get comfortable enough in the environment to benefit from it.

Ed and I were able to stay down in Woodinville for 2 nights on Monday and Tuesday. Aimee got to play with Grandpa Steve and Grandma Starla for 2 days and I'm sure had a great time. We had so much fun eating yummy food (The Barking Frog was delicious!), drinking lovely wine (well, just Ed...but I got to smell it.), and enjoying uninterrupted time together. It was delightful!

Thursday, we met quickly with Audiology to get Aimee's new hearing aid molds fitted. For some reason, they scheduled us an appointment with Audiology on the 6th floor at the same exact time as Genetic Neurology on the 4th floor. It added a new fun dynamic to making it to multiple appointments. :)

Her second appointment, with Genetic Neurology, was with a specialist who focuses on hard to diagnose cases. He spent a few hours with us going over her history and observing her behavior. He said that he would describe Aimee's difficulties as a birth defect on the nerve level. He believes that 5 years from now they will be able to diagnose which gene was affected (he is almost positive that it is genetic). He said they are just now able to look at 95% of the chromosome abnormalities, but still don't know how to interpret everything that they see. They have already banked her DNA, but they took both of ours as well and entered us all into research studies. This doesn't really mean anything for us, because it could be years and years before they ever contact us back about research. He also thought of one other clinical test to try for her and then...well that's it for now.

He did say that he is fairly certain that Aimee's situation was a case of genetic mutation, not recessive genes. This would mean that a chance for recurrence in future children, according to his estimation, would be around 5%.

We have never had any doctor talk to us about Aimee's future before. It always seems like they are unwilling to commit. This doctor, however, felt that it was important for us to know what they expect from children that have such severe cases. He wants us to discuss how we feel and what we would want to do in the future if (or when, as he put it) difficult life and death decisions have to be made.

So, because Aimee has had so little progress and is already 27 months old, they expect her stay at this level for the rest of her life. There may be about the same amount of progress that she has already achieved, but that is all. He said that due to secondary causes (seizures and pneumonia), they see about 50% of kids like Aimee make it to their 10th birthday. They give about a 15% chance of making it to 20 and it goes down from there. Although Aimee has been really healthy and has had no pneumonias to date, they look at it as only a matter of time.

Although I do not believe in looking at her future based on these percentages, I don't want to ignore the warnings that they are giving me. We were surprised to hear that the lifespans of these children are so short. 15% chance of becoming an adult? That isn't great odds. We do want to be aware of these dangers, but we also know that God created Aimee and has a plan for her. We know that she touches other people's hearts. We don't want to allow fear to tell us that we need to protect her from sickness by not allowing her close to others. Yet, we do not want to be unwise and cause her unnecessary risks either. Definitely a life perspective changing day!

From here this Genetic Neurologist is referring us to meet with the Pulmonary Clinic and to potentially have a sleep study done for Aimee. Although she has always been a good sleeper, her excessive sleep patterns could be a sign of sleep apnea or other problems. He is also concerned about the sometimes irregular breathing that I described.

He will also be reviewing the results of the brain MRI that Aimee has scheduled for a week from Tuesday. They want to be sure that there is no deterioration in any areas of her brain and to see how much development has occurred since she was 8 months old. We are primarily having this MRI done for the benefit of the Neurology doctors, would want to see from the seizure standpoint how her brain looks.

6.12.11

Choosing thankfulness!

Things I am thankful for about Aimee:
Her smile
That she rarely gets sick
That I can put her hair in pigtails
That when she wakes up in the middle of the night, she plays
That every morning I get to spend an hour rocking her while she eats breakfast
That God provides for all her needs
That she is delightful to be with and to look at
That God chose us to be her parents
That we have so many friends and family to support us
AND...
That Aimee is a BIG SISTER! We are so honored that God has entrusted us with another child to love. We are anticipating their arrival around Christmas time. :D Lots of reasons to be thankful!

So onto the news.

We received the response letter to our application for financial aid through children's this last week. Unfortunately, we were only partially approved for this next year. We will have to pay the first couple of thousand up front. Not exactly sure why this change took place, but we are still so thankful for financial aid. That first couple of thousand has already been provided for through the photo contest and is really nothing compared to how much is spent through the hospital on her care over a year. In fact, this month she will well exceed that amount several times. God is always taking care of us.

We have decided to begin speech therapy next week. It will add another appointment to our weeks, but I am anxious to work on her ability to communicate. Primarily I would like to teach her that she can make choices and express them to us in some way. It will be really interesting to see what next steps we can take to get us there.

Tomorrow Aimee and I will be observing a 2 year class similar to the one the school district would like her to be enrolled in for this Fall. This will give us an opportunity to meet the potential teacher, school therapists and nurses. Really not sure if putting her in school is the right choice or not. Praying that a glimpse into their activities will give me insight.

We applied this week to attend a weekend conference at the school for the blind in Vancouver, Wa. According to Aimee's OT this is a really good learning opportunity that they only approve 8-10 families for each year in our state. We would stay in the student housing and learn from other families of visually impaired kids. Hoping that we are an approved family.

It has been 1 year this week since Aimee failed a swallow study and was changed to tube feedings. It is still sad to me when I remember how much she enjoyed eating and how fun it was for me to come up with combinations of pureed foods for her to sample. It was the one area that we could really tell she had some dislikes! We have been giving her between 1 and 2 teaspoons of puree in the morning while she eats breakfast. I am working with a feeding therapist at Children's with the goal of increasing her ability to swallow correctly. Unfortunately, just like every other area that we are working on, progress is hard won and slow.

5.27.11

-Aimee is having an Open House!
We'd love to have you join us to
celebrate her wheels!-

Monday morning Aimee and I were able to have a follow up appointment with the wheelchair company and received all but one of the missing pieces. The adjustments with these additional parts have made the chair fit her better. It's nice to see her sitting up so tall and straight. The only thing we are waiting for at this point is a neck piece, which will hopefully come directly to us in the next few weeks.

Monday afternoon we met with Orthopedics and Orthotics departments for a club foot treatment follow up. The doctor is very pleased with the look of her feet and ankles, which is good because we have been so faithful with using the bar every night. Not always the full 12 hours that they have asked for though. She also got a new pair of shoes from Orthotics while we were there.

Wednesday Aimee did really well in her Occupational Therapy appointment. She works so hard with the abilities that she has been given. It is amazing to see, but REALLY testing my patience. She does learn new things, but it takes a very, very, very, very long time of repetitive action. I know that I should be happy that she is making progress, but when it takes a year of work to see slight improvement...it's really discouraging.

Yesterday we met with the Audiology department to get new hearing aid molds made. It takes 2-3 weeks to get them back and the molds she has are already starting to fall out of her ears. Hoping that we will be able to get the hot pink ones again. They looked so cute on her.

Aimee has been on the seizure medications for 4 weeks now. We are still increasing the main medication every 2 weeks, but she hasn't had any major reactions to date. It does seem to be affecting her digestion some, however, the main difference I've noticed is that she has dramatic mood swings. Although, it is hard to know if this is due to the medication or if it is just those cysts in her ovaries acting up again. We'll be meeting with Neurology to discuss how the medications are working at the end of June and to review the results of the brain MRI that she is having that morning.

I contacted Neurodevelopmental last week, because I had been reading through old clinic notes and saw that there was one syndrome in particular that they decided not to do further testing for because Aimee wasn't (or we thought she wasn't) having seizures. I was able to speak with the nurse on Tuesday and we discussed having the test done. It is an expensive Chromosomal sequencing test that takes about 2 months to get results on. Aimee has all of the symptoms of the syndrome (and more), however, her case appears to be much more severe. We have decided to hold off on this testing for a couple of weeks until we meet with the Genetic Neurologist hoping that this doctor will have more insight. When I read about all these difference disorders, it really seems like Aimee either has multiple syndromes or has a very unique situation. So many symptoms to match.