what's recent

Sigh...

With the good comes the bad, it seems.

Emily's seizures have gotten out of hand again.

We went from just a hand full of seizure per week to 60-80 on one day, resulting in multiple doses of emergency meds and multiple calls to her neuro.

All day seizures for Emily equals no sleep. Most kids sleep a lot after seizures but not Emily.

Just last night she only slept maybe 4-5 hours and none of that was in a row.

She just had a sleep deprived eeg to see whats going on. When we do a sleep deprived eeg Emily can sleep from 11pm until 4am. I have to wake her up and keep her awake (fun)

We did a really good job, both of us were ready for a nap when we got home.

Her eeg showed an increase in seizure activity compared to the last eeg. There are some other changes too and she is already scheduled for a brain MRI to see whats new.

She did just pop another tooth through but she is still having daily seizures so that rules that out.

She also had another UTI when her seizures picked up, we treated that and did a recheck and her urine is clean now, so that rules that out as well.

While we are on the subject of UTI...

Emily has had several and while we do the very best we can to prevent them, (keep her well hydrated, clean, probiotics ect...) she keeps getting them.

Kids like Emily with low muscle tone can have bladder reflux where the urine goes back up into your kidneys and causes infections.

Our pediatrician suggested we do a kidney ultra sound to check for damage. If anything showed anything we would do a more invasive test.

Thankfully it was normal.



She was such a good girl during testing!

So here we are. Back to the drawing board.

We are waiting on new medicine from Canada called clobazam.

It is not FDA approved in the US, yet.

I just want to take a minute and say how thankful I am for Emily's neuro.

He makes himself available to us all the time. We have his cell phone but for after hours I don't want to bother him :) The on call neuro called him and within minutes I had a call from him wanting to know why we did not just call his cell phone to begin with.

It makes me thankful to know that someone cares for my daughter so much. He does not have to do that.

Please pray that this new medicine will help Emily.

I hate trying a new medicine, especially with all the recent development she has had.



Women of Faith Round 2/dr appts

I am leaving in the morning for the Women of Faith conference in Indianapolis. I am so excited and very much looking forward to this weekend.

Most moms can agree with me that you are never really "off". Even in my sleep I am "on". I hear beeps from monitors or feeding pumps. I wake up if she is breathing different. I can hear her paci drop.

It's not a break from Emily that I am needing, I am actually dreading the fact that this will be the first night I have spent away from her.

I need a recharge so that I can be a better mom and a better wife.

Emily is in great hands. Our wonderful nurse, Kathy, will have her Friday until Joe gets off work and then daddy gets to spend the weekend with her. Good thing for her she likes to watch football!

Please pray that it goes well, we have safe travels, and that Emily stays healthy. If anyone remembers what happened last year click here to read.

Emily had a great neuro appt. He is pleased with her progress. I still can't believe the things she is doing!

I finally got some pictures of her and her neuro, Dr. Farber. Don't worry he gave me permission to post these. ;)

We had a time getting a smile out of her.

Finally, a grin!

It really is nice to have a doctor who listens to you and really cares about your child.

We are very thankful to have Dr. Farber in our lives. Wish it were a different reason though.

Emily also had a swallow study done. She is a picky eater. We tried to warn them but they have to add contrast in the liquid and food so that they can see the food going down under the x-ray. They gave her some pink liquid  and she gagged and chocked (new that was going to happen) it was overly sweet and she does not care for overly sweet anything! She aspirated on that which means the liquid went into her airway. They tried a baby food but she would not eat it-told you picky! I did bring one of her favorite jarred food, macaroni and beef. I know, yuck, but she LOVES it! She ate that great and did not aspirate on it.

We tried her regular pediasure and she aspirated on it too.

SO, no liquids at all by mouth for now. Any baby food is allowed and we will repeat the study in 3 months.

Sucks, but not the end of the world. We have work to do. Hopefully as her muscles strengthen so will her swallow.

Love this face!

Working hard and dr appt

Emily's left leg is still very tight and sore but we are stretching it more and more each day.

She is working really hard!

She is still getting lots of pool time in her water way babies pool. She knows when she wants to swim and if you don't get her in the pool asap she will let you know!

Emily finally had her 2 year check up. We had to wait until the cast was off for it.

She hates the paper on the table!

She cringes and wiggles and fusses.

So I put her back in her chair :)

She looks so big in this picture.

She is small. 20.11lbs and 30 in long. She will probably always be little.

They were pleased with the progress she has been making and commented on how alert she was.

3 hours later we had blood drawn, urine checked (they made her mad so she peed on the wall and the nurses ha!) a swallow study scheduled, a referral to a seating clinic at Riley Children's hospital to get fitting for a stander and a plan to help get some weight back on her.

She lost several pounds while in the cast and is not tolerating the over night feeds right now. 4am puke is never fun to clean up.

I am so thankful to have a pediatrician who really listens and a case manager who really does all the work ;). It is so important you and your child's doctor see eye to eye on their care.

Still abnormal BUT........

Emily had her 1st post ACTH eeg. It was sleep deprived so that we could catch her falling asleep and then waking up.



Slap happy from keeping her up until midnight!



Love this smile!

She did great! She was not a happy camper when I woke her up at 4am (neither was I).

They hooked her up to the eeg and we wait. I am horrible about staring at the eeg reading the whole time. I can't read them but I can sort of tell the really bad stuff (I did not see that).

Normally you wait a week to get results but her fabulous neuro just happened to be there and he looked at it for us and said....

It is still abnormal (slow background and some spikes) but no seizures and even bigger NO HYPSARRYTHMIA!!!!!!!

This is huge!!!

Emily, at her worst, had over 200 seizures and hundreds of spasms in one day. Completely uncontrolled.

While I still long for her to have a totally normal eeg one day, I will take this!!!

Thank you Jesus!!!!

I promised pics last time so here are a few to hold you over. :)



Emily and her new cousin Sammy.





I had to tell Emily that she could not eat her baby cousin!





You can tell how much shorter her left leg is. It is up and out of socket :(





She is saying "Thanks Kathy for my new chair!" ha she does really well in it. I need to get a newer picture, her head control has already improved so much!! Thanks so much Kathy!!!





Loving on grandma!

She has become very attentive when you talk to her and she smiles at everything!

Emily loves the sound of a clicking pen and loves going from dark to light.

I love that she loves things, no matter how small.

 

We have so much to be thankful for and thankful we are!

 

Our God is the same in the good and bad and we praise Him the same!!!!

Prayer

We are preparing for the hospital tomorrow. Emily will be admitted for a day or two and have an overnight video eeg so see whats going on with her seizures and to start ACTH again.

Emily is weaned off the ketogenic diet now because we have decided to do another round of ACTH.

If you remember it was the very first medicine we tried when she was diagnosed with IS.

This is what it did.

She got very swollen, stopped smiling and well stopped pretty much everything else.

We are very aware of the risks but we also are VERY aware of the risks of uncontrolled spasms and seizures.

We have postponed her surgery until the swelling has gone down, so probably some time this summer is when she will have it.

So I ask you tonight to please pray. Pray that we can get our miracle. Pray that we can control these horrible, life altering, life ending seizures.

We are desperate for a cure.



Christmas, vacation, surgery and teething oh my!!

Lots and lots of updates. I will be brief though.

I need to do several post to explain everything but I thought tonight I will catch everyone up.

Christmas was nice. Quite and calm. Just like we like it.

We had an impromptu mini vacation for New Years. The three of us went to Joe's dad and step-moms (Lonnie and Brenda) house Thur-Mon. It went so well. It was a 4 1/2 hour drive and Emily did fantastic! We all felt so relaxed the entire time we were there. It was so nice to have extra hands around to help with Emily. Of course Emily loved having her grandma and grandpa to love on her too!

I am proud of us for doing it. We only forgot one thing too HER KETO SCALE!! No worries though, I made enough meals to last a few days and then we bought another from Walmart.

It is hard to travel with Emily and we can't do it often but this trip was so worth it!

As long as she had her little puppy ,Violet, she was fine. :)

We had an appointment with ortho. Emily's left hip is out of socket and most likely has been for a while.

They will surgically fix it on Feb 14th. After the surgery she will be in a spica cast for 3 month and then bracing for a while after that.

This is what the cast will look like. She will be in the bilateral long leg hip spica.



She is off of topamax now!! Yay!!! Only on phenobarb and the ketogentic diet. This is the best seizure control she has ever had!

She is having a few-20 seizures per day BUT they are all very very short and only when she is falling asleep, waking up or after a very hard cluster of spasms. If we can get her all the way asleep or wake her up she stops.

She is incredibly alert and really looks for people. You can just see it in her eyes how much better she feels!

She is cutting her 4th tooth. Two on bottom and now two on top. This 4th one has caused her more pain though. Lots of tylenol and oragel and snuggles.

I will update more soon with lots and lots of pics!

Hope everyone has had a great New Years!!!

off

I don't really want to blog right now but I am making myself.

Things have not been good lately.

Emily's seizures have picked up in spite of everything we are doing.

She has what we think are seizure-free days once or twice every week to two weeks but I am not sure that they are really seizure free.

The past few days have gotten really bad.  She is having so many seizures and we are giving her a lot of meds to TRY and slow them down but they are not working well anymore.

She is weaker than she has ever been and has not been herself in a few days.

She is twitchy and very seizurey looking.

We took her to the ped yesterday just to check labs and urine to make sure it's not something simple like an infection or off labs we are dealing with but they were normal.

I really don't want to go the hospital (especially during cold and flu season) we have oxygen and and a monitor at home and we have been using it lately. She has only needed oxygen once but we are thankful we had it.

We are taking her in to see the neuro the beginning of next week and hopefully we can figure something out.

I want my happy smiling baby back.

update time

First, our day started crappy yesterday.

At 7am I hook Emily up to her feeding pump for an hour because usually she is asleep and that way I can get an hour of sleep to. So I got up put her extension on started the pump and back to sleep I went. The pump was down an hour later and Emily was stirring around. I put my hand on her and she was soaking wet! My first thought was that she peed, I turned her to her side and the bed was soaking wet too! I instantly grabbed her extension and I did not hook it up right so for an hour 6 ounces of formula ran into my mattress!!!

Then I get her up and start getting her meds together, the nurse comes in and I get a phone call from the nursing agency. Medicaid has denied my nursing coverage. The nurse has to leave immediately. Mind you I have had 1 hour of sleep so far and Emily has a neuro appt at 1:30pm.

So quickly before the nurse leaves I took a shower and got ready and made some more phone calls and then off to the appt we go.

The appt was great. The result from her last eeg was so much better. She did not have any seizures during the eeg. This is the first time she has ever done that! We are also weaning her clonozepam (klonopin) too. Hopefully in 10days she will be completely off of it.

We also go the results of some testing she had done in Cleveland. Emily has a vitamin D deficiency which if common in kids who are not in the sun much, so we need to add that supplement. Another one of the genetics was normal, another they did not have enough blood to do it so we had to go the lab after the appt and get it redrawn. We were at the lab for almost 2 hours. I was so tired at this point. I did not leave the hospital until after 5pm. I rushed home, Joe had some dinner ready for me, I shoveled food in and fell into my bed for a few hours and now I start my day all over.

 

I am so thankful we met emily's nurse. She is more than Emily's nurse she has become a friend! Besides Joe, myself, and her nurse we have no one that can take care of Emily. No one knows anything about her diet, meds, seizures, g-tube, and therapies. So we are so thankful for her because if there is ever an emergency with Joe or myself I know we can call her.

It is hard when the people you are supposed to count on choose not to be the people you always thought they would be or should be.

It's amazing how having a sick child really filters the people in your life. At the end of the day you really know who you can count on.

Well I am hoping we can get this medicaid issues resolved quickly and get her nurse back. We are looking forward to a fun weekend!

Emily laughing in her sleep.

cleveland update

First I want to start off by saying thank you.

Thank you all so much for all of the kind words, prayers, and very thoughtful messages. It really did help us get through a horrible day. So many people love and care about Emily, even complete strangers, and for that we are eternally grateful!

Emily had a MUCH better day today. We did not see any visible seizures but with that being said since she is still on an eeg we saw many on the screen, mostly when she is sleeping or when she is falling asleep or just waking up.

She was much happier today also. We got lots of smiles and some pretty good eye contact too!

She saw the ophthalmologist, who was also great, and he said she does have CVI. Her eyes are healthy and her vision is perfect, her brain does not let her see properly right now. When we get home with will start a vi son program for her to help her see better.

Yesterday we met with the neuro/metabolic specialist, he was so great! He explained what he thought and what we are going to look for. He thinks Emily may have an early onset of Rett's syndrome or cdkl5. She has actually been tested for cdkl5 before and it was negative but apparently the lab the preformed the test is not "the best" so if all of the other testing comes back negative we are going to re-test her for that one. He was explaining that finding Emily's disorder is going to be very difficult. He described it to us like this-finding a typo in a book with 20 trillion letters in it.

Finding what is "wrong" with her may not change anything, but if we do find out we can prepare ourselves for what is to come and some disorders have other problems that arise in the future like heart or kidney issues and we can already be on top of things if we have a heads up.

So blood and urine were sent off and we should hear something in 4-8 weeks.

Also we have decided to change her diet slightly. Stacy if you are reading this I am going to email you all of the new info this weekend :)

She is currently on a 4:1 ratio *4 fat to 1 carb* and the formula that she is on has artificial sweetener and some people are much more sensitive to it so we are changing formulas and ratios to see if that will help at all.

I will leave you with a few pictures.

This is Emily's very first hotel stay. She looks pretty darn comfy.

Her eeg leads on. She did so great with them, all 4 days worth!

bad to worse

I am blogging this because it is too hard to tell 35 people the same thing over and over. Please do not get your feelings hurt because we did not call you and tell you personally. We are choosing not to call anyone right now. It is too hard to say what we are going to say. If you would like, you may call us later tonight and ask questions but right now this is how we are choosing to update about Emily.

Last night she had a really bad night. Really bad seizures that would not respond to ANY meds and they were very strong. They were getting ready to send her to the PICU-(pediatric intensive care unit) when she finally stopped.

So that was our night-BAD

This morning the neurologist-neurosurgeon/epiologist came in to give us the results of her PET scan. Emily's seizures are from everywhere in her brain. She is not a surgery candidate. He also said from monitoring her on a constant eeg the past few days she has a very severe form of epilepsy. We already knew that but we had hoped that the PET scan would show that she was a surgery candidate so that was a huge blow.

She does not respond to most meds so we are adding some meds to her already extensive list. Once she is on the new drugs well we will begin to wean her off her klonopin and then use klonopin as an emergency drug instead of ativan and diastat because neither of those are working for her.

Our new plan, since she does typically respond well to steroids (for a short time) is when she starts a big cluster of seizures we will begin a round of 3 days or so of oral steroids-starting now because as I am typing she is seizing.

We are also starting a new drug zonagran (tonight), there are only 3 drugs left he thinks could work for Emily and this is the first one we are choosing to try. We will also be increasing her phenobarb because her phenobarb level is still a little low and in higher doses she does respond for a little while.

We will also be meeting with the keto dietitian to see if there is any tweaking we can do with the diet because she is still not in large ketones. That meeting is tomorrow.

Our new goal with Emily is less seizures, seizure freedom is not realistic right now.-WORSE

The doctors here are amazing and incredible. Sadly there is just not much else to do for Emily. Only time will tell what the future holds.

This is the hardest thing to deal with because there has always been a next step, many other drug choices and tests. Now we are down to 3 drugs and that is it. We have hit a brick wall and it hurts.

So please be understanding that right now we are grieving again. It may sound horrible to say that but we are. We are grieving the hope that we had in new meds, new doctors, new tests, new outcomes for Emily.

The reason we chose not to call anyone is because this is hard enough to type let alone tell so many people. Emily does have a lot of people who love her. Again, it is not personal. It is actually selfish and right now that is what Joe and I need to worry about, ourselves and Emily.

We will be coming home on Friday probably. She is not stable for travel right now, so hopefully we will be home this weekend. We love you all so much and are so thankful for all the support we get. Please keep our family in your prayers. This is just more difficult then I thought it would be.

I love Emily so much and to see her suffer like this is beyond fathomable.

Cleveland-day one

We are in Cleveland now and Emily is all hooked up to her eeg for the next few days. They want to see all the different types of seizures she has on the monitor so they may back off some of her meds temporarily and see what happens.

It is defiantly a different world here. Don't get me wrong it seems like a fantastic hospital and they have an amazing reputation for the most modern technology it's just not our little,everyone knows you, hospital.

The accommodations are a def lacking comparing to our home hospital. We have a very tiny room and we share a bathroom with another room. There is one shower on the unit and the door does not lock (ha!) Honestly I think we are just spoiled with what we are used to.
On a positive note, they left the hospital bed in the room so we have that to sleep on and a pull out chair/bed thing. The Ronald McDonald house is full so we could not get a room but they are letting both of us stay here so we don't need it now. They have a Ronald McDonald room on the floor for all the pediatric patients family's that has a couple computers, TVs, showers and laundry that we can use while we are here.

So enough with the complaining.....We met the neurologist up here and he is incredibly thorough, he knows his stuff. Joe and I were both very impressed. He agrees that something is going on with Emily's brain that is causing her problems, seizures, developmental delays, and low muscle tone, we just need to find what. He said he finds the cause in about 60-70% of cases but even if we find out what it is it may not change what we are doing. Finding a cause may just may be just that and not being able to fix anything.

That is pretty much whats going on so far, in the morning she has a PET scan done. Unfortunately, she has to be NPO (nothing to eat) after midnight and her test is not until 11am. I am freaking out a bit because I know she will be. We were 1 1/2 hours late feeding her earlier and you would have though I had not fed her all day! Also when she does not eat her blood sugar drops because of the diet she is on so we are going to have to watch the pretty closely. So needless to say I am a nervous wreck about this. She also has to be sedated for the test.

So tomorrow is going to be a long day. We also meet with the metabolic specialist tomorrow and they had me fill out a 10+ page packet to help them fill in on Emily. Maybe they will see something no one else has so far.

I will update sometime tomorrow.

bad news

I have been holding off blogging about this just because it is hard to type.

We got the results of Emily's follow up MRI of her brain.

Compared to the MRI in Dec. her brain has suffered mild to moderate atrophy, which means it has shrunk.

We are getting a 2ND opinion within a month at the Cleavland clinic.

Another thing that could have happened is that her brain just did not grow with her skull, which is what we were hoping.

We were just so taken aback because she has actually made PROGRESS the past few days. She rolled to one side and brought her hands together (like praying). She is smiling more and laughing appropriately. She is even making more eye contact too.

So needless to say we are pretty upset with this news.

I am holding out hope though, this is one doctors opinion, and as we all now Emily is a mystery so we can't compare her to anyone else.

She started the ketogentic diet and tonight it seems to be kicking in. We have to test her blood sugar and check for keytones in her urine. The goal is to get her blood sugar somewhere in the 70's (normal is over 100) today she got done in the 80's. She is already having moderate keytones in her urine too.

We are only 2 days into the diet so I have not seen a huge improvement in her spasms. Yesterday was a very bad day for spasms but today they are not nearly as long, so maybe that is the diet kicking in.

So please pray for Emily and us. This is so hard to go through.

I just wished we had answers. None of her genetics are saying anything. We are currently waiting for the 3rd round to come back.

I love her so much. She is all we ever wanted.

One last thing. Emily's daddy ,Joe, has started blogging about his princess. Go check it out.