Prayer Request & Update

Hey Family & Friends, 
Man, it's been a while since I have posted anything on our sweet Henley. I wanted to start by asking for prayers for her tomorrow. We will be arriving at Cooks at 6:00 for a LONG day of MRI's and appointments. She will go in for her 9th MRI of brain and total spine tomorrow and we will meet with Dr. Roberts afterwards. The MRI should take about an hour and a half but there is a chance that they will choose to flip her on her stomach mid-way through the scan and do the spinal MRI in two different positions. This could obviously add some extra time to the scans.  

Due to a recent diagnosis of pneumonia in August (I think this is #5 in her life). The Anesthesiologist was concerned about her lungs during sedation. So please pray for her lungs to be strong and for their to be no complications with the anesthesia process. No matter how many times we do this, putting her under still makes me a nervous wreck.  

Tomorrow we will be looking for some answers on some new little issues Henley seems to be having. One of which is that she tells us that it hurts in the middle of her back when she breathes. I mean, that's all, just when she breathes. This girl is such a trooper and has an incredible pain tolerance. She is also complaining a lot more frequently about her legs hurting and getting really tired when she walks. At this point we can not make it through the grocery store or Target without her needing to ride in the cart for most of it. She is also complaining about a new area of her head hurting on a pretty regular basis.  

We have had a few different tests this summer that lead us to believe that her issues with low muscle tone are getting worse. We have noticed even more of a gap between what her friends can do and what she can do. For instance: Henley can't balance on one foot for longer than one second. She can not pull herself out of the bathtub or pull up from a laying down position. She can't put one foot in front of the other without falling over. For a 3 year old this might not be a big deal, but she will be 6 in 2 months. She just has lots of problems with her balancing, strength, and stamina. Just the act of walking is utterly exhausting for her. We are realizing that this makes life tough when you are constantly on your feet moving in school from 8-3pm.  

We recently started up Dancing after taking the last year off. It was very apparent after her first class that she had lost a lot of strength that she used to have because she came home with ripped tights and sore knees from falling through the entire class. When I asked her what she liked best about her first day back in dance, she replied "When we got to sit down". She told me she fell a lot and didn't want to go back because it made her legs really tired. I decided after many tears that maybe I needed to take her out and look for something we could do for "physical therapy" that was actually fun.  

This brings me to our new exciting endeavor with Henley, Hippo Therapy! (Physical Therapy with Horses) Oh my goodness. Henley is SUPER excited. We went last week for an evaluation and they felt like she was a perfect candidate for this type of therapy. She actually started today and as silly as this sounds it brought me to tears to see her enjoying therapy so much. What a blessing to finally have something that she loves and is excited to do AND it's going to actually HELP her! Win Win! 


Henley also started Kindergarten last week and that is a whole other post to make. She had a really rough first week, but we are very excited about where she is in school and are hopeful this will be a great year.  

A new reality

I get the question almost weekly "How is Henley?" The majority of the time my response is "She is really good right now!" We are so thankful for the place we have been in recently and have enjoyed feeling like we have finally moved out of the routine chaos we used to live in. While we are not racing to the hospital every couple of months (Thank you Lord!) we do have some different issues to deal with. Migraines.

This week has been a very hard week for Henley. I am posting this picture because people never see Henley the way that we do. Most people see Henley smiling ear to ear and hugging everyone she comes in contact with. She is a happy child. Until she's not. As with most chiari kiddos, when the weather changes so do our children. The pressure in the atmosphere changes and the pressure increases in their heads. It's almost more than they can bare. It's just about more than I can bare too. I took this picture to explain what it looks like to have a "chiari headache" as they call them. Real. Intense. Undeniable. Pain. People ask me what it looks like for Henley to have a "bad day". THIS is what it looks like. 

This absolutely breaks my mommy heart in to pieces. Even with doing everything I can possibly think to do for this sweet baby, sometimes it's just not enough to release the unbelievable pressure in her little head. Rain rain go away!
 

Yearly Update

Man! Two years have flown by. Zane is now 4, Henley 5 and Haven is 7...going on 18. Things have been much calmer in the past few months than in years past and I am so thankful for that. Currently, Adam is on a plane headed back from China. That trip is never easy for any of us. This time he was gone for 9 days. Its never short enough and every time I can not wait to have him back in our home and sleeping right next to me. The kids count down the days and Zane actually broke out in prayer for him last night all by himself. I was floored! It was honestly the most precious moment I wish I could have frozen in time.

I'll do a quick child update:

Haven: 7-1/2 years old.

Our responsible one. Haven is in the 1st grade and loving school. Her favorite subject is Math (totally Adam's child) and she loves singing (my child!) She is so kind, a little bossy, and sweet as can be. She is one awesome kid. Haven is the one that does her homework without asking. Always has amazing citizenship at school. If there is an award, this girl wins it. She is a rockstar. She is so much fun and my "big girl". I love getting to just hang out with her and do big girl type things. She can be so girly and she can also shoot a gun and play in the dirt. Haven is so beautiful on the inside as well as the out.

The other night Haven said "Do you know what my gift is mom?" I said, what do you think it is? and she responded with "Responsibility". I agreed. She is seriously the most responsible child at this age. I trust her to do most things. Its Spring Break and we are taking it pretty easy around here. This morning Haven let me sleep until 10:30 AM!!! She got breakfast bars for the everyone and drinks and turned on a movie when they got up. I mean, what mother of three children gets to sleep until 10:30 and wakes up to a peaceful, quiet house with all of her children happy, not hungry, not fighting and nothing is destroyed in the house??? I DO! Thank you Lord for these amazing children.

Haven loves her legos, she loves crafts and art, coloring and creating things for people. She is our gift giver and is always thinking of things to give people. She is super thoughtful.
 

Henley: 5 years old

Sweet Henley. Henley is a hugger. She will run and attack any person with the sweetest hug ever. She loves to wrap herself around you and look into your eyes and tell you just how much she loves you. She is loved by every single person that has ever been in the same room with her. She just has this magnetic personality and a smile that lights up the entire building. Henley's gift is encouragement. She is so quick to hug someone who is hurting or cheer someone on from the sidelines. She is very in tune to others feelings. 

Henley can be a bit mischievous when it comes to her little brother and so this is about the only time she gets in trouble. She has been known to be a bit bossy with Zane when Haven is not around. I suppose its just her trying to control something when Haven is not around to call the shots. Henley still loves giraffes but she has also added her little cat "Pounce" to the mix and "Bambi" these are little beanie babies that she got from a couple of different hospital stays. They sleep with her and all of the giraffes in her bed at night. She sleeps with one large giraffe over her head at night because she says she is scared of the dark. Apparently that fear is alleviated by a large giraffe trying to suffocate you. 

Henley is doing fantastic from a medical standpoint. We are so thankful that some really rough years are behind us. We still have not been released from the yearly MRI's, but we are hoping that will be in the future for her. 

Zane: 4 years old

Be still my heart. This boy just might have me wrapped around his little finger. I feel like God knew that one of my love languages was words of affirmation and therefore sent me this little boy to fill my bucket. I am not kidding when I say that Zane tells me several times a day that "Mommy, you are the best mommy ever" and "Mommy, I love you!" He still loves to cuddle and snuggle and I will do that just as long as he will let me. 

I am a little afraid about what Zane is going to do this next fall when Haven and Henley are in school. He does not do well when his sisters are not around. Its like a piece of himself is missing without them. I am excited to have him all by myself at home for one year and get that one year I got with both of the girls.

Zane loves cars and legos and trains, super heros and playing outside. He has just recently started showing off some karate skills that I am certain is going to get him in trouble down the road. Zane at age 3 was already hitting a softball off the tee and across the yard so I am interested to see how that is going to go as he grows. He also LOVES to swim. He is a total fish. This past summer when he was just 3 years old he took off swimming one day all by himself. He swam about 8-10 feet underwater without coming up for air. I was terrified, but he did it like a champ and has never looked back. I think this summer might be our first summer of having three swimmers.

These three get along so well, they rarely fight and usually resolve things on their own and very quickly without having to get mommy involved. They are attached at the hip. The little ones can not wait for Haven to get home from school and they all give each other the biggest hugs when they are all back in the same house. I feel very lucky that they are all so close. 

As for Adam and myself. We are doing great. We have almost been married 11 years, and I can honestly say that I love him more than ever. I am so honored to be his wife and love the man that he is and that he is becoming year after year. Even through all of the crazy, we have always resolved to be Team Thomas. Sounds silly, but I have come to realize over the years that the vows we made on our wedding day to be a team and to fight for each other and not against each other may have been one of the wisest things we ever committed to. We have each others back and we are trusting the Lord to lead us through this crazy life.

8th MRI and update from Neurosurgery

 

Today was the Henley's 8th time under anesthesia for an MRI. Man, that is a lot for a 4 year old! As I am learning, it's not any easier today than it was the first time. We have heard all of the protocols and given her name and birth date to about a thousand different medical personnel at this point. We have even reached a point of familiarity with the nurses. Every time, we put on a brave face for Henley and tell her that she is going to be just fine, while we sit in the waiting room in nervous anticipation. 

This time in particular, I got up to go to the restroom and when I walked through the door of the bathroom, I realized I could hear Henley's MRI in progress through a shared wall. It killed me to know I was that close to my baby and she was in there all by herself. I'll admit I stayed an awfully long time in the bathroom listening to the sound of the MRI and praying for God to send an angel to be with her in that room. I just needed to know that she was not alone. After leaving the restroom, it became hard not to want to stand by the wall and listen to every beep and knock so that I would be the first to know when it was all over. I checked back about every 30 minutes for 2-1/2 hours. In between walking back and forth to that shared wall in the bathroom, I did my best to meditate on this verse that a friend put on the back of a shirt she had made for Henley. It has been one of my favorites through all of this: Psalm 112:7-8 "They do not fear bad news; they confidently trust the LORD to care for them. They are confident and fearless and can face their foes triumphantly."

When they do her MRI's, they are doing 4 of them at a time along with a fluid flow study to track the spinal fluid and how it is moving around the brain and brain stem. Once it was all over, we got to meet her back in recovery. We were running late to our appointment with the surgeon so as soon as she was able to sit up and eat a popsicle, the nurses put her in a wagon and we all went upstairs to the office visit.  
When we got back, they took her blood pressure. It was obvious that she was still really lethargic. Her blood pressure was 84/48. They said it wasn't super concerning, but that they would be watching her and would check it again before we left.  
We met with Dr. R and I felt like we had the same conversation as last time. We were concerned that she might have a tethered spinal cord due to the back and leg pain she is constantly complaining of. THANKFULLY, she does not have a tethered cord! A bonus to that info was that if she doesn't have one now, it's highly likely she will never have one. So, no need to check for that again. 

Another praise is that she still is syrinx free! In the Chiari world, that is a pretty huge deal. If she had or ever does develop a syrinx, which there is a high likely hood for, that immediately guarantees another brain surgery. What is a syrinx? Basically it is when you have a collection of spinal fluid in your spinal column. It has the capability of destroying the spinal column, which as you can imagine can cause a lot of terrible outcomes. So we don't want that...EVER. However, when you have a Chiari and everything is so compacted at the base of the foramen magnum, it is very difficult for your spinal fluid to flow properly. Consequently, a lot of times the fluid will choose the path of least resistance and end up pooling in a cavity inside the spinal column.  
So, as of this moment, Henley does not have a syrinx and we will continue to praise God for that.  

Dr. R said that her brain is still very tight/compacted down at the foramen magnum. There is a minimal amount of spinal fluid getting through and this is definitely not a good thing. Basically, the cerebellum is pushing against the brain stem and there is this teeny tiny sliver that the CSF is traveling through. As of now Henley is not having the symptoms to merit another brain surgery (i.e. throwing up, choking, gagging, and difficulty swallowing). We are mostly dealing with migraines, back pain and leg pain at the moment and that may be due to the Ehlers-Danlos Syndrome. However, it feels like we are just like a 1/32" away from having the same symptoms from two years ago. Basically, if the brain grows or moves and puts any more pressure on the brain stem, or cuts off that sliver of fluid flowing, we might likely have a big problem on our hands.

So why wouldn't we do surgery now to fix that problem? Well, because there is a chance that over time her brain might just decide to fix itself. With a developing child, it's kind of like watching a moving target. We really don't know how it's going to change over time. It would be amazing for her brain to decide to pull back up into her skull and open up all of that extra space. (We would love for you to pray for that. That would be a miracle that only God could do.)
   
SO during the appointment while Dr. Roberts was talking, Henley started throwing up. Because of the anesthesia, not because of her brain. After the appointment (about 45 min later) we went back to check her blood pressure and it was still 84/48. She was still too weak to walk, so Adam carried her to the car. She got sick one more time in the car on our way home. Luckily we are trained professionals and keep barf bags in the car. We made it home and after a little food, she perked right up and has been back to her normal self since then. 

Please keep us in your prayers. Next Wednesday we will be looking at her heart with an EKG and an Echocardiogram to, Lord willing, rule out any congenital heart defects.

Thanks for sticking it out to read my uber long updates. It's a little bit of therapy for me along with the info it carries. For those of you who love the pictures, I will post some MRI images next. 
 

4 Years Ago Today....

This day is just another day for most people. This day has been quite a day of reflection for me. August 12th. My Grandfather's Birthday is today, one of my cousins. 2 days from mine, another hot day in Texas. Days before the end of summer and the day and the start of a new school year. No big deal, just another day. But then I sat down and was alone with myself for a minute and it hit me like a hurricane. A tsunami of emotions came over me. 4 years ago TODAY. August 12, 2010. The events of that day have been permanently etched in my mind. The day I got that phone call that forever changed my life. Changed the way my heart beat, changed me as a wife and a mother and quite frankly a person. I have never been the same. Most of the time I am thankful for the changes, but some of the time I miss who I was. I miss the me that didn't think about my children's mortality. 

But God has been so good. He is such a sweet God and He knew. He knew what we could handle on that day 4 years ago. He let us experience all we could handle in that moment, and every time I think about that day I am so thankful He didn't let us have more of the information that was to come. The diagnosis "incurable brain disorder". Chiari. I had no idea what that word even meant....now I do. God knew all along. He gave us the information first and gave us time to get used to what that might look like. He gave us time to process the information before the symptoms came. He gave me some amazing mentors and women in my life to help me navigate the road before us. He knew that a year later we would start to deal with so much more and needed to have our feet in some well cured concrete. What a wonderful and loving God He is. I have felt like we have been in a period of rest with Henley, with just a few hiccups along the way. The past year has been better than the one before, and that year better than the one before it. I have felt at peace with where we are. 

Currently, I feel like I am reeving up of something. I am not sure what that is, but its just a feeling I have. Maybe everyone feels this way before school starts. Maybe its other areas of my life, maybe its with Henley's medical stuff. I am not sure, I just feel this feeling inside and feel like I am being prepared for something.

I keep my eyes always on the Lord. With him at my right hand, I will not be shaken. Therefore my heart is glad and my tongue rejoices; my body also will rest secure,

– Psalm 16:8-9 (NIV)

Road Trips....not our thing

We decided to try it again. After almost 3 years since the last roadtrip that landed Henley in the hospital for 4 days. We got in the car and made the same 7 hour drive to Louisiana to see my Mom's side of the family. The night before we left about 6:30 pm Haven started running a fever and not feeling well. She threw up in her bed at midnight and we didn't get much sleep. We put a certain group of highly anti-viral/anti-microbial essential oils on her and put her back to bed. The next morning Haven was feeling better so I went to go get Henley up and she had just thrown up in her bed!! What on earth?!? We repeated the same protocol with Henley and we cleaned up and got in the car and headed east. 


Everyone made the drive and seemed to be fine when we got there so is just chalked it up to a tummy bug and the oils doing their job once again and it was over. The kids went to sleep and woke up the next morning with no issues. While eating breakfast henley threw up on three different occasions. We got in the car and decided to try to get to Destin and get settled.
 
The next morning we woke up and were getting everyone ready to head to the beach. We were spraying the kids with sunscreen and then I headed back inside with Henley to wash hands. Henley went to the potty and then started walking out of the bathroom and stopped outside the door. I was washing my hands and heard Henley yell "MOM! MOM! WHY ARE YOU DOING THIS TO ME?" I looked over at her and she was standing in an open space with her legs in a wide stance and her arms out to the side and she was twisting side to side. I said to her "What are you talking about Henley, I am not even touching you." She did not look at me or respond when I spoke to her. I immediately knew something was not right and got down on the floor right in front of her. I yelled for Adam. I started saying "Henley, Henley! Henley!!!" and no response. She was standing there staring straight ahead and biting her lip repetitively. She appeared to all of a sudden get very dizzy and she sat down quickly on the floor. It appeared that the repetitive motions had stopped and she had "come to" after being off in space for a couple of minutes. I asked her "Henley are you okay?" She was still not looking right at me, but her eyes were open. She started saying "Mom, Mom....where are you? she was reaching out in front of her because she knew she could hear my voice but it appeared she was scared because she was not able to see me sitting right in front of her. Shortly after that she appeared to be having vertigo of some sort. Adam and I both helped her to the bathroom in case she threw up. She proceeded to lay on the bathroom floor for a while recovering. She seemed to bounce back within about 30 minutes and she was acting normal again. We decided to go ahead and go on with our day and head to the beach. We spent a couple hours there and then decided to head back to the room. On our way back to the car Henley threw up again and then fell asleep on the bench at the bus stop waiting for our shuttle. After that day Henley seemed to be fine. 

To answer your question. No, we have not had her seen by her doctors since this episode. We honestly don't know what else they can do. We know that what she had is a type of seizure, we are just not sure on the whole temporarily not being able to see me right in front of her face. That honestly was the scariest thing I have witnessed. The whole episode lasted about 5 minutes. We have done several EEG's in the past and they have never been able to catch any seizure activity on the test so we are not sure what causes them. It APPEARS that there might be some kind of trigger when we drive in the car longer than about 5 hours. We don't drive long distances a lot, but the three times that we have Henley has had some kind of episode the following day. We do not have this problem when we are flying. Only driving. Weird. 

A journey for real answers

I wanted to update everyone on something I mentioned in the last post about us going to Philadelphia. I feel like we get asked a lot….“So what’s next for Henley?” Honestly, I am not even sure we know the answer for that at this moment. We are just trying to take everything one day at a time. Every time I sit down at my computer, I have a daunting feeling come over me. I sometimes just avoid the computer all together for days at a time because every time I open it up, I think of things I need to research. 

During our most recent appointment with Henley’s geneticist, she basically said that we have this information about Henley, but the research is not at the same place as the technology. We have the technology to test for all kinds of things and to such a small molecular level…however, because we are some of the first people utilizing these extensive genetic tests, we keep finding stuff that “has never been seen before”…yet. We get the fact that Henley’s genetics and internal issues are rare and that, for the most part, you would never be able to look at her and tell there is anything wrong with her. However, that still doesn’t stop us from looking for answers for what these things mean for her and how that will affect her life. Here are the things that we know for sure:

1Henley has Chiari (Kee-are-ee) Malformation Type 1. This is what she had brain surgery for at age 2 and has the potential for facing another surgery at some point in the future. Our neurologist said recently that he feels certain that at some point Henley will need to undergo another more extensive surgery to create more space for her brain due to the amount of crowding and continued “crowding” and pressure on her brainstem. We are currently taking that one day at a time and are having the “We’ll cross that bridge when we get to it” mentality.

2.  Henley has a very rare genetic condition in which she is missing part of her 16th Chromosome. This is so rare that it does not even have a name, rather it is just referred to as 16p11.2 Micro-deletion. Several of the kids who have this micro deletion also suffer from Autism or are “on the spectrum”. There is very little information out there on how this could affect her life, and because there are not a lot of people out there with this problem, it’s hard to research. Currently, Henley is 1 out of only 307 documented cases of this in the world.

3.  Henley was also diagnosed with Ehlers Danlos Syndrome which affects her joints and makes her have hyper-mobility….just like her momma. Yep, I have this one too. I never knew it was a “thing” I just always thought I was cool because I could do crazy tricks with my joints. However, as I am aging myself, I am learning that I am having some early onset osteoarthritis and other problems with my joints that are complications from Ehlers Danlos Syndrome.  This will be something Henley inevitably deals with as well.

4.  After Henley’s WES (Whole Exome Sequencing) test we were able to look further in depth to her DNA. This test allows us to identify specific genes in Henley’s DNA that have problems or malformations that might be causing some of the clinical issues she still suffers from. In this study, we found that three of her genes have problems: one dominant gene and two recessive genes. However, we are not positive about what any of that means because those had “never been seen before” in the genetics worldwide database. In my opinion, I think it’s just because people don’t get this type of testing done all the time. The testing alone is a rare step to take, so I am certain there has to be SOMEONE else out there with these issues…. and maybe they just think they are “different”.

After our counseling session with the geneticist, her response to us was basically this, “I am so sorry that I don’t have answers for you, but we will know more over time and we will hopefully and most likely have answers to these issues before Henley decides to start her own family.” She said that if she were us, that she would be significantly more concerned with the fact that she is missing part of her 16th Chromosome and not dwell on those other genes until we know more. As we left the office, we both felt like we had hit a dead end.

In the fall of 2013, I found an organization that links families together with very rare genetic conditions so that the organization can partner with researchers and doctors who are specializing in this one thing and collect information from the families who are dealing with these specific conditions. We found out this spring that every year the organization puts on a small “family meeting”. This August, the meeting is being held in Philadelphia. Attending would allow us to meet other families like us face-to-face and also speak directly to the researchers and doctors who will be able to give us the absolute most up-to-date information regarding what it means to be missing part of your 16th chromosome and what that will mean for Henley in life, education, and as she grows. We are excited to see what might come of this trip to Philadelphia. 

W.E.S. Results...or maybe not

15 Weeks is up and we have our results back from Henley's WES (Whole Exome Sequencing). Adam and I went in today and chose to leave Henley at school to take part in "teddy bear picnic day". We felt like that was a much more important place for her to be today, rather than sitting around a conference table at the geneticist office talking about how complicated her genetic makeup is. Really, there is only so much a child needs to be exposed to in my opinion, and this is where I draw the line. I don't want her growing up constantly hearing us talk about medical stuff. I'd much rather her be playing on a playground with other 4 year olds, playing in the dirt, getting her clothes messy and having a picnic with her friends. She will have plenty of time to deal with all of this confusing stuff later on. 

So, I think we are maybe more confused than we were when we went in today. No real answers. Apparently some of these "findings" are so rare that the research hasn't been done yet, so we may not know what some of these findings actually mean or if they have any clinical significance for another few years.

What we DO know is that she is missing part of her 16th chromosome and according to our geneticist, that is a bigger deal and has more significance than any of the other things they found in this detailed test of her genes.

We are continuing to do our own research on 16p11.2 micro-deletion and will have the amazing opportunity to get to meet the other families that are just like us this summer at a family meeting in Philadelphia. We will get to speak face to face with doctors and research teams who are studying this very rare genetic condition. Not only that, but they will get to meet all the little rock stars they are doing research on!

The GREAT news is that Henley does not have any pre-dispositions to any types of cancer. What a HUGE blessing that is to know.

Thank you all for the continued prayers. We were told today that we should probably start a savings account for Henley for when she wants to have children of her own. Geez Louise!!! Let hope that is at least 20 years from now. I'm going to need that long to prepare.

Appointment with Neurosurgeon

 

Today was a long and emotional day for us. 

We saw Henley's surgeon today and were able to sit and talk with him for about 45 minutes. We talked about Henley's MRI results from last Thursday. We were able to confirm what we were pretty sure we knew last Thursday after reading the radiologist reports and reviewing the images ourselves. Here are the basics in a nutshell:

1. Henley's Chiari has gotten larger in size, which is causing more crowding at the base of her skull than it was originally...However, we are not seeing some of the same symptoms we were back then. Her Chiari started out being a 3mm (when she was 9 months old) and now it is a 12mm. Basically, what that means is that her cerebellum is falling below the base of her skull 12 mm into her spinal column. (I will attach a picture for that to make sense)
2. Henley has scoliosis now.
3. She also has an extra vertebrae in her lumbar spine. I've talked to several doctors over the past week and apparently that is weird, but not anything anyone is going to do anything about. It actually makes her lumbar look awkwardly curved.

Our Doctor still does not believe that Henley's seizures are being caused by the Chiari and gave us his medical reasoning for that. He said that if we should be most concerned about any ONE thing, the seizures would be what he would be most worried about. Good to know, because I was for sure it would be the weird extra vertebrae and the brain falling out of her head.

We talked about another surgery to make more room for the spinal fluid to flow freely and he said that we absolutely could do that, but he was not certain that it was not going to make things worse rather than better. If we continue to give the brain more space to move, rather than staying put, it could continue to sag and travel down into places it shouldn't. My response was "So are we just supposed to wait and see if she gets a build up of spinal fluid in her spine before we do something?" To which he answered "Yes, because of the risk involved in surgery may not be enough to outweigh the benefit at this time"

We also discussed her rare genetic disorder. I have not talked a ton about that on here because we know so very little about it. Her genetic condition does not even have a name yet. It's called 16p11.2. As of January, there were only 307 documented cases of this in the world. I am certain more will pop up over time, and so as time goes on we will know more about it. However, because it's so rare, there are not many doctors in general who have even heard of it, much less know how it affects the child/person who has it. For this reason, Dr. Roberts suggested we try to get a second opinion from a neurosurgeon who knows and has potentially done surgery on a child with both 16p11.2 AND Chiari. (That ought to be easy to locate...goodness!) He also mentioned that if her problems were at the cellular level that surgery might not be effective anyways.

At the conclusion of our meeting we decided to go back to 6 month MRI's instead of yearly and that we would talk again after we received the results from the Whole Exome Study. In the meantime I will be scouring the internet looking for a surgeon who we can go to for more answers.

On my way home I contacted Boston Children's hospital and they told me that our case sounded very complex and that they would have to get back with us....so I will hopefully hear back from them next week sometime.

Please keep us in your prayers as we are so desperate for them. We need strength and peace. We need direction and answers. Please beg with us that the Lord will send exactly who we need to be working with. 

Neurosurgeon Appt

We were able to get an appointment this week with Henley's neurosurgeon. We are seeing him Friday at 12:30pm for the official results and to talk through next steps. Please keep us in your prayers. I am trying my best to live this verse right now but it is proving to be quite a test.

Phil 4:6

 "Do not be anxious about anything, but in every situation, by prayer and petition, with thanksgiving, present your request to God"

EEG Results & W.E.S.

Well, sorry folks. I just realized that I never went back and posted the results of Henley's EEG from January 10th. As expected everything came back "normal" as in "no seizure activity" during the 24 hour period in which she was being monitored. This was no real surprise for us, as the other 3 EEG's she has had over the years have all come back normal. In other words, we still have no answers for the 9 seizures Henley has had to date. 

In addition to the EEG, Adam, Henley & I all had blood drawn for the WES (Whole Exome Sequencing) This is currently the most advanced genetic testing available and has only been available for the past year. It takes 15 weeks to get the results back, so we are hoping to hear something around the first week of May. This test is used for those patients who have pretty much exhausted all of their options in trying to get to the bottom of their medical problems. Since we are going on year 4 of trying to get things figured out, they felt like this second round of genetic testing would be beneficial.  

In addition to Henley having Chiari Malformation we were told before her surgery in 2012 that she had a very rare genetic abnormality. Her genetic condition is actually so rare that it doesn't even have a name. It is only known at this point as 16p11.2 microdeletion. After finding out about this in December 2011 we met with a geneticist who told us that there was really so very little known about this genetic condition, and that hopefully in a few years they would know more about it.  

As helpful as that statement was.....we were dealing with so many other things at the time, that we decided to put that information on the shelf and re-visit it at a later date when we could actually sort through and process that information. That date came two years later in January of this year (2014) when I decided to pull the micro-array genetic testing results out of a file and start digging in to see what I could find. 

I spent several entire days glued to the computer researching everything I could get my hands on having to do with 16p11.2 and what I found was shocking. I located a database that pools databases from all over the world together to link people who have the same genetic issues. After registering Henley in the database I found that she was only the 307th person IN THE WORLD to have the same deletion. I found people from every single country out there and it was fascinating. Now, that certainly does not mean that there are only 307 people to have that genetic issue, that is just out of all of the people who have had the genetic testing and been put into SOME database somewhere in the world. Either way, its pretty rare. I have sense made contact with a few other mommies of 16p kiddos in other countries and we have been comparing stories and our own research findings. We actually might have the opportunity to meet some of the other families this summer. More on that later. That is all for now.

As my best friend would say "Thanks for listening"

Procedure Day

Today was a long day. Henley had 4 MRI scans and a flow study to look to see if spinal fluid is flowing normally. Her MRI's were of brain, cervical spine, thoracic and lumbar spine. We were at the hospital from 8:30am-3:30pm. She had a bit of a rough time with nausea after coming out of anesthesia, but other than that she did fine.

We did get to walk away with the images and radiologist reports and are now just trying to decode everything we are reading in the interim, before they call us with the actual "results". Fortunately we have become familiar with some aspects of the images and know a tiny bit about what we are looking at. By tiny, I mean minuscule in comparison to a professional. I don't feel comfortable saying what we think, but would rather wait for the actual results from our dr before stating any information. I will however say that we did see some things we have not seen before and there were new possible anomalies/findings that may give an answer to some of the problems with her walking. Henley's Chiari still appears to be a concerning factor as well which we will be discussing further with the neurologist in the coming weeks. Thanks for the continued prayers.

RSV and an everyday miracle

Feb 1st. Adam and I left the kids with a sitter to go to a couples wedding shower. Before we left I went to hug Henley and the sight of her stopped me in my tracks. She was pale and did not look like herself. I asked her if she was okay and she said "I'm fine mommy" and raced upstairs. We left the house, but the whole night I knew something wasn't right with her. We came home, the babysitter left. All was silent and peaceful in the house. I went to look in on the kids and found Henley sleeping in a bed full of vomit....awesome. That girl can sleep through anything.

Adam and I ran through our standard "vomit protocol" and one cleaned up while the other bathed Henley and washed her hair.

The next morning she was definitely not well. It was freezing rain outside and there was an ice storm coming in quickly. It was Sunday morning and no doctors offices open. We made a quick decision to pack up the other kids and take them to my mom's house in case we got stuck somewhere. We dropped them off and headed to the ER with Henley. By the time we got to the ER, Henley was coughing uncontrollably. They did blood work and ran test, x-rays of her chest etc. The results came back that she had RSV....no biggie, we have done that before....until she started throwing up blood and it coming from her nose also... THAT we have not done before! It was so awful. She could literally not go more than a couple minutes without an episode. The hospital even had to locate new clothes for Henley because she ruined hers. It was AWFUL!!! After Henley made that major switch, the doctor became more concerned, and she called her neurologist office and spoke with the neuro on call. They were concerned enough about all of the blood that they ordered a CT scan. Because we were only at the Urgent care ER and not downtown and because of the crazy ice storm we waited until Thursday to get the CT and see the doctor in one shot.

They sent us home with the standard "I'm so sorry, but because RSV is a virus, it is just going to have to run its course"....are you kidding me?!?! There is NOTHING you can give us?

We made it home and Henley was so miserable. I didn't know what I was going to do other than clean up sheets and towels all night long. I called one of my friends who knows a lot about Essential oils and asked her if there was anything she knew of to help with RSV or coughing. She said she actually had a oil recipe for RSV specifically. At this point I was so desperate for relief for Henley, I told her I would try anything!! She told me what to do and so I started using this certain blend of very potent essential oils on Henley's chest, back and feet. I repeated this same thing every 30 minutes for about 2 hours while we laid on the floor watching the super bowl....commercials. I did this until she fell asleep. To my surprise, the violent coughing fits subsided pretty significantly and she was able to sleep pretty well through the night. 

The next morning she woke up and was probably about 75% better. Adam and I were SHOCKED. I decided to try the oil thing one more day and so I probably put the same combo of oils on about 4-5 more times that day. By Tuesday morning she was not coughing AT ALL....I am 100% serious, it was like an actual miracle happened in my own house before my very eyes. Craziness!! Wednesday you would have never even known what had transpired just days before and by our neurologist appointment on Thursday the doctor was so confused why we were doing a CT scan and not an MRI. (MRI's they have to be sedated for and they will not intubate children who have had any RSV or pneumonia within 6 weeks!!) CT scans are much quicker and they just have to be still for a few seconds.

When we reminded him that she had been diagnosed with RSV on Sunday, he stopped and looked up from his computer and stared at Henley. Then he said "I would have never looked at her and thought she had been diagnosed with RSV 4 days ago!" Praise the Lord is all I have to say about that one!

We went over her CT scan results and he told us that there was no cause for immediate alarm. Apparently they were worried that she had developed fluid on her brain and that was causing her to vomit blood. Because that was clear they said she was okay for the time being. However, because of her CT scan results they wanted to follow up at 6 weeks post RSV with a full brain and spine MRI and a spinal fluid flow study. Based on the CT scan, it was apparent that Henley still has some compression and this might be what is causing the seizures, her newly developed walking issues and increased pain. 

That MRI will take place THIS Thursday March 13th. Prayers appreciated. It will take about 2-1/2 to 3 hours for this procedure.


When we reminded him that she had been diagnosed with RSV on Sunday, he stopped and looked up from his computer and stared at Henley. Then he said "I would have never looked at her and thought she had been diagnosed with RSV 4 days ago!" Praise the Lord is all I have to say about that one!

We went over her CT scan results and he told us that there was no cause for immediate alarm. Apparently they were worried that she had developed fluid on her brain and that was causing her to vomit blood. Because that was clear they said she was okay for the time being. However, because of her CT scan results they wanted to follow up at 6 weeks post RSV with a full brain and spine MRI and a spinal fluid flow study. Based on the CT scan, it was apparent that Henley still has some compression and this might be what is causing the seizures, her newly developed walking issues and increased pain. 

That MRI will take place THIS Thursday March 13th. Prayers appreciated. It will take about 2-1/2 to 3 hours for this procedure.

EEG & Genetic testing scheduled

I got a call this morning that we will be doing Henley's overnight EEG and our genetic testing should all be able to take place at the same time which will be on January 10-11.

We will be needing some help with childcare for Haven & Zane as my mom will also be out of town then.

Thanks for all the prayers and sweet comments. We appreciate every one of you who reads these updates and prays for our family. We could not do this and remain semi-sane people if it were not for our community who walks with us through life! We love you all and hope you have a Merry Christmas!

Another Seizure and more questions

As I am starting this journal entry, I am emotionally exhausted due to other recent events even before beginning this little synopsis. I am sure most of you feel like that just by reading a few of these entries! ha. 

This past weekend my brother Erik got married in Houston. The kids were the flower girls and ring bearer and so we were involved in several of the wedding weekend events. At the rehearsal dinner on Friday night Henley came over to me and seemed to have a sudden outburst of emotion. I thought she was upset about something so I tried to comfort her until I saw her eyes roll back, her body stiffened and she fell to the floor and began to seize. I immediately fell to the ground with her and called out for my cousin Adrian who was sitting next to me at the time. Adrian "just happens" to be an ER Doctor here in the metroplex and was down there with us for the wedding. Now, tell me that was not provision on the Lord's part!! I completely lost control of my emotions and was also terribly embarrassed that all of this chaos seemed to flood my brothers rehearsal dinner. 

It took me a while to pull myself together, but Henley recovered much more quickly. Adrian was able to witness what happened and make sure that after it was all over that she was responding normally. We went through the rest of the weekend with no other problems.

Monday morning I called Henley's neurologist and spoke with the nurse. She felt that after the event, we needed to have Henley seen sooner than later. They were able to fit her in for Thursday afternoon.

Thursday morning I woke up with anxiety about the appointment. For some reason I was not in high hopes of things being hunky dory. 

We had not seen Dr. Aalbers since the December before Henley's surgery in Jan 2012. As you can imagine, there was a lot to catch up on. We talked about how things with Henley had improved immediately following surgery, her walking was better, her vomiting had ceased as well as some other GI issues. She began speaking more within about 2 weeks and overall she was significantly happier. 

Dr. Aalbers went over her MRI's with me and showed me that at her 6 month post-op appointment the MRI showed that she still had a reasonable amount of compression at the base of her skull. Although most of her symptoms had seemed to have been resolved, her seizures have not. She has currently had 9 seizures to date and this year she has had one in March while Adam was in China, one in June and now December. According to our neurologist, that is enough cause for concern. (Really?) He also checked her reflexes and said that her right side should have improved by now, which it does not appear that it has. He watched her run back and forth and it was obvious to both of us that her right leg sticks out and lags behind when she runs which then causes her spine to get out of alignment. This answers the question for the reason she complains of her back hurting frequently. He actually re-aligned her spine while we were there, and she has felt much better today.

Dr. Aalbers felt that we needed to do another overnight EEG to see if this time they might be able to capture a seizure on the monitors. She has had 3 before, so this will be the 4th one of these test. We also discussed doing some more extensive genetic testing which would be utilizing new technology developed within the last year. This test is called Whole Exome Sequencing (WES). It is apparently the end all be all of genetic testing as of today. Although eager to do the testing for the answers that would be helpful, it is also very possible that we will be given information about ourselves and Henley that we are not wanting to hear. For example, if we are genetically pre-disposed to have certain diseases later on in life.

The genetic study that will be done takes between 4-5 months to get the results because they will be testing over 20,000 genes in Henley's, mine and Adam's genome. In addition to the regular testing, they will test specifically for 4 or 5 epilepsy genes. This should be able to answer the question "Are the seizures she is having related to a genetic issue that is making her more prone to seizures?" or "Are these seizures being caused by the pressure in her brain from the Chiari compression at the base of her skull?" 

If everything comes back clear of any traces of epilepsy then we will have to discuss another brain surgery for her to relieve the remaining pressure. If it does come back that the seizures are greatly due to an epileptic gene then we may have to discuss medicating her for that. 

So there it is...the update. As always we are thankful for the Lord's provision and placing us exactly where we were on Saturday surrounded by family. On a lighter note. I think we should quit traveling as a family.

Skull Fracture

So it has been a while since our last entry, mainly because Henley has been doing so well over the last few months.  Apparently she was getting bored with that because we now find ourselves in the hospital with her yet again.

It started yesterday afternoon as we were walking around in Academy and Henley presumably walked into a pole and fell backwards, hitting the back of her head directly on the floor.  To any normal child this would be a bit concerning, but for Henley it is extra concerning because of her previous surgery.  The next several minutes were pretty intense as Leslie tried to calm her down and get her breathing normally again. Luckily, she did not go into a seizure, as she has done in the past.

As we were leaving the store, she fell asleep in the car and continued to sleep on our bed when we got home.  At this point, Leslie called her neurologist to get his opinion on what we should be watching for.  He said to bring her in if we started seeing symptoms similar to what we saw pre-surgery, like vomiting, choking, troubling swallowing, etc.  After about an hour of her sleeping, we attempted to wake her up so that she could eat dinner, which took almost 15 minutes of us practically yelling in her face to get her up.  Once we got her up, she ate a whole peanut butter sandwich and chips in no time and was ready to play with her siblings upstairs.  At this point, we thought she was going to be ok.

Overnight, Leslie checked on her while she was sleeping and she responded to Leslie as any normal child would while in deep sleep. Before going to sleep herself Leslie prayed simply for God to give us a very clear sign to know whether or not we needed to take Henley to the hospital. The next morning, Henley didn't really feel like eating anything and wanted to just veg on the sofa.  Then, around 9:30 am our "clear sign" appeared in the form of projectile vomiting, which lasted what seemed like several minutes.  We knew at that point that she needed to go to the ER. Leslie made the call to her dad that has become so routine, yet still alarming "We are taking Henley to the ER, we are going to need some help." So after about an hour of bathing, packing, & handing over the siblings with grandparents, we were on our way.  Luckily, we thought to bring a barf bag with us in the car because she threw up again on the way to the hospital.

Once at the ER, they did a CT scan on her.  After about an hour of waiting for the results, the doctor came in and told us that she had apparently managed to fracture her skull and that she would need to be admitted for observation. We both just looked at each other in shock. Seriously? A skull fracture? That was even remotely on our radar! Come to find out, the fracture is at the same site of her surgery.

After another round of vomiting in the ER we were admitted to the 4th floor (post-surgery/trauma floor). We got settled in our room and aquantied with our nurse Cindy. Henley has been very different than in the past when we were here. She is a year and a half older and much more vocal of her displeasure about being here and the whole process. She has been much more difficult to console and calm this time around which has made us both very sad. It is very hard watching your child potentially being traumatized by an event that you know they have to go through for their own good. 

We ordered dinner and gave Henley one bite and she started throwing up. The nurse brought in more medicine for nausea and we were lucky for her to be able to keep that down. Once the medicine kicked in she was able to finish a little bit of dinner and polish off an entire piece of chocolate cake. So far she has been able to keep that down....although she has not been given the chance to eat again since last night. 

This morning about 8:00 am we got a visit from Henley's surgeon, Dr. Roberts. He walked in and said "You guys just couldn't stay away!" He suggested that since she was already scheduled for post-surgery MRI in September to look at her Chiari, that we might just go ahead and kill two birds with one stone and do that today so that we could get a very accurate picture of not only the skull fracture, but how the rest of everything looks after the trauma. We were on board with that idea and so they said they would get that scheduled ASAP. 

They took Henley back for the MRI around 9:30am and its almost noon and we are still waiting to hear that she is out. They should be bringing her back to the room any minute so that we can see her. We will update again as we have some more infomation. Thanks for all of the FB post and comments, phone calls and texts. As always, we could not do this without the love and support from our amazing friends, family and church!

Breathe

I am not even sure how to start this entry. It's been a long time since I have updated on Henley, but we had a very small little event that brought several things right back to the surface today for me, as if to remind me that we are not quite "home free" just yet. 

Tonight just after 6:00pm I was on the phone with my friend Chesley when I heard running and giggling upstairs followed by the loudest thud of a child hitting a wall....I knew someone was hurt. Seconds later I heard screaming. It was Henley. I know my children's cries and some I don't run for, some I ignore all together, but this cry I sprinted up the stairs skipping steps as a time. When I got to the top of the stairs I saw Henley holding her head and trying to grasp for air as if she had had the air knocked out of her. It was one of those cries that you are begging your child to breathe in between hysterical outbursts. I reached out to grab her and she fell completely over to her side and started thrashing as if she was trying to catch her breath. I immediately got in her face to look in her eyes and blow air in her face to try to get her to inhale. As I was doing this I saw her eyes roll back to the left side and start shaking. I said "Chesley she is having a seizure!" and immediately lost control of my emotions. Henley quickly came back to and just started crying and wanting to be held. Zane started crying because I was crying and Haven stood to the side not knowing what to do. We all just sat there at the top of the stairs a complete mess. In the midst of trying to hold myself together, I told Chesley that Henley was fine and that I needed to call her back and hung up. Poor Chesley didn't realize how traumatic it would be to be my friend/neighbor. I hate that she had to witness all of that on the phone, but I know that God provided her in that moment for me. As soon as I hung up with Chesley she immediately called my friend Joanna who "just so happened" to be on her way to my house at the exact same time. Not one minute later I heard Joanna walk in my front door and say "Leslie, are you okay? Chesley just called me". (Thank you Father for constantly being steps ahead of my every single need)

Joanna was coming over with her kids for dinner since both of our husbands are out of town and we were planning to have dinner and chat. Well, this dinner ended up being one big sob-fest in which I think I have decided I might need some professional counseling or something. I told Joanna tonight that 99.9% of the time I feel completely fine and at peace with everything....but there is that fraction of time in which I burst into tears and wonder how in the world I can handle another event like tonight. I suppose I am and will always be a work in progress. All that said, I am not sure any mother could watch their baby have a seizure and not burst into hysterical tears and feel a sense of helplessness in the moment.

I should mention that Henley is in fact totally fine and acted as if nothing happened the rest of the night. She was able to tell me later in the evening that she hit the back of her head which may have been the cause of the seizure, but no one can be sure of that.

Adam is currently in China and will be home just in time for our appointment with Henley's geneticist on Friday of next week, and although we have had several EEG's for Henley I am contemplating contacting her neurologist to talk to them about the seizures again. I suppose I will try to fit that in sometime before or shortly after Adam's heart surgery...good grief! 

After I was able to put the kids to bed and have a minute to myself I went in our bedroom and sat on the floor and just started crying all over again. In the midst of my tears I heard the music loud and clear in the other room playing over the speakers. These were the words I heard and I knew in that very moment that God was speaking directly to me with this song.

"Be Still"

He is here for the broken and life to the one who is undone
He is peace to the wounded and hope for the helpless one
He is here, He is here

Be still my soul, be still
Be still my soul, be still
Wait patiently upon the Lord
Be still my soul, be still

When the waves rise against me and the wind tries to draw me away
I will stand on the mountain, safe in Your arms I will sing I will sing

Be still my soul, be still
Be still my soul, be still
Wait patiently upon the Lord
Be still my soul, be still

Be still I know He is God
He is here, He is here
Be still I know He is God
He is here, He is here

So be still my soul, be still
Be still my soul, be still
Wait patiently upon the Lord
Be still my soul, be still
Wait patiently upon the Lord
Be still my soul, be still

Thank you Father for showing me that you are here with me through this. 

Zane

Zane turned 1 year old this week and yesterday was his 1 year well check appointment. Going into this appointment Adam and I had talked about wanting to have him checked for Chiari. The reason we have been concerned about Zane has been grossly overshadowed by the recent events with Henley. However, we knew that this issued would be addressed at this appointment and so we chose the "cross that bridge when we get there" attitude. Since around December Zane has struggled with eating any foods with texture in them. He does fine with stage 2 baby foods and milk, but the second he tries to swallow anything with texture in it he throws up. Not just gagging, he throws up everything he has eaten within the prior 30 minutes. As if feeding all of our children was not difficult enough, I find myself crossing my fingers and holding my breath with every single bite I feed him. I certainly do not need any more vomit to clean up. 

Because there is so much evidence that supports Chiari being genetic we have been cautiously aware of the fact that Zane might also have it. So at his appointment yesterday they began taking his  measurements. His weight was 22.5 lbs! He has now passed up his sister in the weight department. His length was 29" which is exactly what Henley's was at a year and his head was 47.1 cm. Which is barely more than Henley's was at a year. When we put this stats on his individual growth chart everything looked normal except for his head. No surprise there in my opinion, but what was disturbing about it was the fact that his head had jumped significantly in size since his 9 month appointment. (Just like Henley's did). When the pediatrician came in we talked about everything and then she said. "Okay, lets talk about his head". Ugh. I always dread those words. She was concerned with the major jump in size from his last appointment. We talked about his eating. This was actually the third conversation we have had about his eating/throwing up since December. I had called her back in December to ask her if what he was doing was normal, and she said to just give him a couple more months to see if it got better and if it was just a learning curve to the new foods. After our discussion she felt like based on everything we know and what we are seeing in him, that it was probably a good idea to go ahead and do an MRI on him to see if he also has Chiari. 

Sigh. After I left the appointment with our pediatrician I called Henley's neurosurgeon's office and spoke with the nurse to ask them what they thought and if there was any other imaging other than his brain that we needed to incorporate to give them the most information possible right out of the gate. The nurse agreed that given the circumstance and what they know about Chiari presenting itself in multiple family members that it was a good idea to get Zane imaged as soon as possible. She also told me that it would be a good idea to get images not only of his brain, but of his cervical spine as well. So, all that said Zane is scheduled for an MRI first thing Monday morning. 2 days from today. 

Adam and I are doing okay. We are at peace with this decision and will both feel better when we know something for sure. We both feel like we can handle just about anything as long as we know what it is we are dealing with. Its the waiting for information that is hard for us. We know that again, just like before, that God has seen this day too and He already knows the answers. We know that He has a plan for our future and we will trust him in this moment too. Taking it one day at a time.