A JAR OF CARROTS

Today was Emmalin's first day to be able to eat a whole jar (actually about a jar and a quarter) of baby food since she started the Ketogenic Diet.  This may not seem like a big deal to you, but it is a HUGE deal to us.  For those who don't know a lot about the Ketogenic Diet, it is a very high fat, low carbohydrate and protien diet.  Since Emmalin has been on it, she hasn't been allowed to eat very many carbohydrates.  The only reason that she has been allowed to eat this many now is because we are weaning her off the diet.  We are now down to 1.5:1 (1.5 times more fat for each carbohydrate and protein that she eats) and we are hoping to be off the diet completely by next week.  I will keep you posted!

1ST DAY AT THE MEYER CENTER

Last Tuesday Emmalin had her first day of occupational therapy at the Meyer Center in Springfield.  I didn't know exactly how Emmalin was going to do because she had been up a lot through the night (she does this when she's cutting teeth).  But she did great!!  I was SO proud of her!  Emmalin's therapist, Sebna, was very nice and really "listened" to Emmalin when she would try to tell her that she needed a break.  Sebna also gave us some great things to work on for the week.  Next week we not only get to go back and see Sebna, but we also get to add in physical therapy.  It is so exciting to see what kind of progress she is going to be making in the future!!  God is SO good!


Below is a picture that has nothing to do with Emmalin's therapy, but it was SO cute that I wanted to post it! 

Emmalin and Jarrad skyping with Uncle Corey

IT JUST KEEPS GETTING BETTER EVERYDAY

As you all know, Emmalin regressed in every area while she was on the Ketogenic Diet.  From July 3rd, 2010 on, Emmalin has been getting stronger in an area of development and/or doing something new everyday!  It has been SO encouraging!!!  I wake up every day excited to see what Emmalin is going to "reveal".  Emmalin had gone from rocking on her hands and knees, to doing nothing but laying there.  I am proud to tell you that she is now rocking again and moving all over the floor (by rolling)!  She also has started vocalizing again.  She blows raspberries ALL the time and makes a lot of different noises.  


Emmalin even laughed a couple of weeks ago for the first time since March 15th, 2010 (the day we stared the Ketogenic Diet).  I have to say that there is NOTHING in this world like hearing your baby laugh!  


There are two areas that Emmalin seems to be moving the slowest in (put still progressing) are sitting up and gaining back all of her head control (again).  For the past two days (thanks to a suggestion from her therapist), Emmalin has been making HUGE headway in these two departments.  


We have a little seat called a Bumbo that you can put a baby in to help them learn to set up and to help strengthen their backs.  I haven't put Emmalin in hers for months because she had lost so much body control.  Now that she is starting to gain it back, I would try to put her in it.  But all she would do is arch her head and back backwards and lean back as far as she could go, (instead of sitting up like she was supposed to be doing).  I think part of the reason she would do this is because she didn't have any control, but the other part of it was just because she didn't want to sit up (plus she really likes leaning backwards right now).  So when her therapist was here this past Saturday, she asked if we had a bumbo, I said yes, but explained why we haven't been using it.  She suggested that we put a magazine in the back of the bumbo to keep her from leaning back as much.  A magazine, why on earth didn't I think of that?  Anyway, it has totally worked.  Emmalin still figures out how to lean around it sometimes, but believe it or not, I saw some improvement in her head control by the end of yesterday.  Yes, Emmalin still has a very long way to go in both of these areas, but she's moving forward and that's all I care about!  Today when we put her in her bumbo, she could hold herself up for longer amounts of time.  Even when she did lean over the the side, she could straighten herself back up (most of the time).  Now, this may not seem like a big deal, but it was HUGE!!!  I couldn't believe it!  She has made SO much progress in these two area in just two days!  It is SO amazing!!  God is good!  I can't wait to see what tomorrow will hold!  

EXPENSES OF A SPECIAL NEEDS CHILD

Having a baby with special needs is VERY expensive!  Right now, Emmalin is on 7 different types of medications and vitamins.  Her seizure medications make up 4 of of that 7.  Plus, we also have to make many visits to St. Louis (which is 4 hours away - one way) for doctors visits.  There are also expensive therapy cost and Emmalin is starting to need some special equipment (like standers, wheelchairs and many other things).  Plus she also has food expenses.  I know that you are probably wondering why I am listing food as an expensive cost because every child needs to eat, but Emmalin's main source of food is still a liquid, so it can get pretty expensive to find something for her age that will give her all of the nutrients that she needs.  Going through Emmalin's journey so far, we have found that when we have been told that something is "special" it has always also meant that it is going to cost a lot of money!

Emmalin in her new stander.

My sister, Jessica, had been wanting to put together a benefit for Emmalin to help with all of the expenses for a very long time, but Jarrad and I were too proud.  The way we looked at it was that Emmalin is our child and it is our responsibility to provide for her.   When Emmalin got her diagnosis and we realized that all of these costs were going to be a permanent thing.  Jarrad and I got to thinking about all of the things that she is going to be needing in the future and how expensive everything is going to be,  so we finally decided to swallow our pride said okay to Jessica.  We also decided to try for, Medicaid, as a secondary insurance, and a couple of other financial assistance programs for disabled and visually impaired kids.  We were denied for all of them.


Emmalin will be having her first benefit October 2nd, 2010 (I have posted more details about it on the right side of the page).  We feel so lucky and blessed that everyone involved with the benefit has been so gracious and amazing!  THANK YOU from the bottom of our hearts to everyone that is helping with it!  You will never know how much Jarrad and I appreciate you taking time out of your busy schedule to help us!  

Red is her favorite color!

Jarrad and I also have an amazing friend named Todd who has offered to help Jessica set up more benefits in the future.  Together, Jessica and Todd are working on several more benefits for 2011 and possibly one more in 2010.  I will keep you posted as I get more details!

I have to admit that sometimes if I sit down and really start to think about this journey, first of all I have to say that I feel very blessed to have such a wonderful husband and amazing little girl.  But thinking about all of the obstacles that we have overcome and  having just a small idea of everything that we have ahead of us, it can become very overwhelming if I think about it all for too long!  That's when I just have to step back and remind myself that God has it all under control and that it's all going to work out the way it's supposed to.  I have a hard time remembering that sometimes.  


God is good!

THE RISKS OF HAVING ANOTHER BABY

I forgot to tell you two important things.  One, Jarrad and I are not carriers of the CDKL5 gene deficiency.   The other is that this deficiency was "created" at conception.  

We asked how this happened, knowing that we weren't carries of it, and this is how it was explained to us:
One of Jarrad's sperm or one of my eggs that had a "glitch" in it.  When  Jarrad's sperm and my eggs were being created, they were being produced in a "mass production line".  While everything was "going through the line", there was a tiny glitch in one of the sperm or eggs while it was being created.  They actually said that if it was early in the "production line", there could be 100 sperm or eggs that have this glitch.  If it was later on in the "production line" there could have only been 1 egg or sperm that had the glitch.


Emmalin's geneticist, at the St. Louis Children's Hospital, told us that we have about a 3%-5% chance of having another baby with CDKL5 gene deficiency.  I know these probably don't seem like very big numbers, considering everyone has like a 2% chance of something being wrong with their baby.  But so far, we are 1 for 1, and so those are HUGE numbers to us!  


We were also informed that there will never be a way to know if it was the egg or sperm that had this deficiency and how many eggs and/or sperm still have this deficiency (if any).  We would just have to take our chances and wait until I got pregnant to test the baby.  If I got pregnant, there are three different ways that they can test the baby to see if it had the gene deficiency.  Two ways are done by tests performed during pregnancy at 12 and 16 weeks.  The third option would be to do in vetro fertilization.  When the cells multiply to 4, the doctor would take out one of them out and test it.  

So, those are our options.  Honestly if I got pregnant, and we found out that the baby had the CDKL5 gene deficiency, aborting it would not even be a consideration.   And if that baby had the deficiency, Jarrad and I wouldn't be able to live with ourselves, knowing that we intentionally brought another baby into this world, already aware of the fact that it had a chance of being created with CDKL5 gene deficiency.  We feel like it would be a VERY selfish act on our part and we don't think living with the CDKL5 gene deficiency is a life that any child deserves!  Now, saying this, please know that we love Emmalin with ALL OF OUR HEARTS, we are SO grateful to have her and we think that she is perfect in every way!  But when it comes to having another baby, and with all of the information that we have been given, it is a risk that we are willing to take.  I guess we could change our minds later, but right now, this is how we feel.


God is good!

BASIC INFORMATION ABOUT THE CDKL5 GENE DEFICIENCY

I got this from another child's site that has the CDKL5 gene deficiency.  I think it includes all of great medical information it.  


CDKL5 is a gene that is found on one of our sex chromosomes called the X chromosome. The letters are an abbreviation of the scientific name of the gene which describes what it does. The long-winded name is cyclin-dependent kinase-like 5. The CDKL5 gene was previously called STK9 and sometimes people think that the two genes might be different but they are in fact the same.

The CDKL5 gene provides instructions for making a protein that is essential for normal brain development. Although little is known about the protein's function, it may play a role in regulating the activity of other genes. The CDKL5 protein acts as a kinase, which is an enzyme that changes the activity of other proteins by adding a cluster of oxygen and phosphate atoms (a phosphate group) at specific positions. Researchers have not determined which proteins are targeted by the CDKL5 protein.

Mutations in the CDKL5 gene are have been found in girls with Atypical Rett Syndrome and boys and girls with X-linked infantile spasm syndrome (ISSX), West Syndrome and early onset seizures.

To date one girl with a milder form having moderate intellectual delay and autistic features with no seizures or physical disabilities has been diagnosed.

Some CDKL5 mutations change a single protein building block (amino acid) in a region of the CDKL5 protein that is critical for its kinase function. Other mutations lead to the production of an abnormally short, nonfunctional version of the protein. Researchers are working to determine how these changes result in seizures and the characteristic features of Rett syndrome [RTT] in affected children The involvement of CDKL5 in RTT seems to be explained by the fact that it works upstream of MeCP2, the main cause of RTT.

At the moment testing for CDKL5 is limited to children with a diagnosis of Rett Syndrome who have been tested negative to the Rett Syndrome gene MECP2 and a handful of children who have severe early onset Infantile Spasms or epilepsy onset within the first few months of life.

AND SO THE JOURNEY BEGINS

Minutes Old

Emmalin was born October, 29th 2008, and started having seizures when she was three weeks old.  As she started getting older, not only was she having seizures everyday (and still is), but she also started having major developmental delays (we are still working on sitting up and crawling, touching/holding anything with her hands), texture problems (with eating) and vision problems.  

About 4 Months Old

When Emmalin was 5 weeks old, we met with pediatric neurologist, Arie Ashkenasi out of the Pediatric Neurology of the Ozarks office in Springfield, Missouri.  He was absolutely wonderful, but couldn’t figure out what was causing all of Emmalin’s seizures activity.  After seven EEG's, three MRI's, a ton of blood work, and a spinal tap, Dr. Ashkenasi  sent us on to see Dr. Judith Weisenburg, an epilepsy specialist, at the St. Louis Children's Hospital.  There, Emmalin had her eighth EEG.  From that we were told she has about 3 different types of seizures going on in her brain almost 24/7 and because of all of the seizure activity, she has very few "normal" brain waves.  Obviously this is a big deal for a lot of reasons, one being the longer these seizures go on in her brain, the more long-term brain damage will be done.  Another is that because Emmalin has SO much seizure activity going on in her brain, it hasn’t allowed her the opportunity to be able to develop (developmentally).  

Now all of this being said, Dr. Weisenburg still couldn’t figure out what was causing all of this seizure activity.  When it came to “treating” Emmalin’s seizures, our goal was just to try to get them to slow down as much as possible!  By slowing them down, we were hoping that it would allow Emmalin to be able to “gain some ground” developmentally.

About 6 Months Old

About 6 Months Old

After Emmalin tried her sixth seizure medication, the seizures were still continuing so Dr. Weisenburg suggested that we try the Ketogenic Diet.  This is a special high-fat diet that is supposed to help with seizure control.  On March 15th, 2010  we checked into the St. Louis Children's Hospital for five days to get the diet under way, hoping to decrease or eliminate her seizures.

About 2 or 3 weeks into the diet, Emmalin was diagnosed with a CDKL5 Gene Deficiency - Early Infantile Epileptic Encephalopathy.  This deficiency is VERY rare and, from what I have found, there are a little less than 200 cases in the world.  I have been told by Emmalin’s neurologist that it’s kind of the “up and coming” deficiency, so they don't know a lot about it right now, but  they are hoping to know a lot more about it in the next couple of years.  From what I understand, for Emmalin, this deficiency means that she is going to be having very aggressive seizures on and off throughout her entire life and even when we find a treatment that will decrease or take away her seizures, the seizures will always come back eventually.  Now, please know that we are very grateful to have been given a diagnosis because we had a 75%-80% chance of never finding out what was causing all of her seizure activity.  Now that we have a diagnosis, our treatment goal is still to try to slow the seizures down enough so that her brain has an opportunity to let her develop (developmentally in all areas) and of course by accomplishing this, it should help minimize the long-term brain damage.  

1 Year Birthday Party

After Emmalin's diagnosis, we decided to continue trying the Ketogenic Diet.  Unfortunately, the diet only affected Emmalin in a negative way (which the doctors have never heard of).  Very slowly she regressed in every area developmentally; she even lost all of her head control (which had never been a problem for Emmalin in the past).  She lost ground in the eating/texture area, and Emmalin stopped vocalizing, smiling and laughing.  As the days went on, Emmalin also started to become very lethargic and got to where she would only stay awake for like 5 or 6 hours out of the whole day.  As if all of this wasn‘t enough, Emmalin's seizures had ballooned up to like 12 to 17 a day instead of like 2 to 5.  

1st Time to the Pumpkin Patch (2009)

On June 29th, 2010, we decided to start weaning Emmalin off of the diet and we started her on a new medication called Sabril (Vigabatrin) on June 30th.  

I am happy to report that on July 1st, Emmalin only had 1 very mild seizure (that was it for the ENTIRE day)!  Since that day, Emmalin has been having a couple of seizures a day, but still NOTHING like it was on the Ketogenic Diet (before the Sabril)!  Also around July 3rd, Emmalin started to slowly gain back some of the things that she had lost developmentally.  Day by day, Emmalin is starting to gain some of her old skills back and she is getting stronger and stronger.  She hasn't gained anything back completely that she had lost, but at least she is moving forward now instead of continuing to lose ground!  Like I said before, we don't really know how long this medicine will work for Emmalin before it will start losing it‘s effect and her seizures start to come back stronger.  We hope it will be for a very long time, but only time will tell.  We just thank God for everyday that she gains some of her strength back and has very few (or none) seizures and pray that she will continue to do the same the next day!

Easter Day - 2010

When it comes to her vision, we realized very early on that something was wrong with Emmaln’s vision.  Dr. Ashkenasi had told us that Emmalin had a whole lot of seizure activity going on in the occipital lobe, which is where the visual information is processed.  He knew that all of this seizure activity was probably part of the problem on why she couldn’t see very well, but he wasn’t 100% sure if it was all of it.  So he sent us to see Dr. Tychsen, the head of the pediatric ophthalmology department, at the St. Louis Children's Hospital.  We have been able to discover that she has a lazy eye, Ocular Motor Aproxia, and Cortical Vision Impairment.  On January 7th, 2010 Emmalin had both of her eyes operated on to try to fix her lazy eye.  The surgery was a success and so far, Emmalin’s eyes have stayed aligned.  We now follow up with Dr. Tychsen every three to six months to make sure that everything is still going okay.  

A couple of months ago, Emmalin was given the opportunity to participate in a clinic for the visually impaired in Springfield, Missouri ran by Drury University.  It is eventually supposed to be for all ages, birth through adults.  It is in it’s early stages and Emmalin is one of five people who are in it.  This clinic as truly been a gift from God for us!  This is the only thing like this in the Springfield area (that I know about anyway) and it is totally FREE!!  We feel SO blessed that Emmalin was given this amazing opportunity!

June 2010

As for Emmalin’s eating, we believe that the seizures have also been playing a factor in all of her severe texture problems.  Emmalin has an “issue” with anything going in her mouth.  To this day, she still can’t tolerate anything above a stage two level baby food and gags on any type of juice or water.  So this has left her main source of food being some type of formula.  Our goals for Emmalin, in this area, are to eventually eat solid food and drink out of a sippy cup (or anything besides a bottle).

Family Picnic - July 2010

Emmalin has had the amazing opportunity of participating in the First Steps Program ran through the Developmental Center of the Ozarks in Springfield, Missouri for therapy.  We actually just got it cleared to add in vision therapy twice a month.  We started it today, and it’s AMAZING!  We are so lucky to have it!  But since Emmalin is getting ready to be two, Jarrad and I talked and decided that it is time for Emmalin to be getting more than an hour a week in therapy.  So, we are getting ready to start more therapy at the Meyer Center in Springfield, Missouri in the eating, physical, and occupational areas.  We are very excited to be able to be getting these therapies started and look forward to seeing what kind of progress Emmalin will be able to make in the future!