It's official. Henley needs surgery within the next couple of months. We are still here waiting to talk with someone about available dates and then will spend the day talking about it between our family and look over our calendars. We will update with more details later, but that's all the info I have for now. Thank you all for praying.
We made it to NYC. It’s been a really long day. Henley had a headache before the plane even took off and so I was worried about how this day was going to go. I used these special ear pressure regulator things to help with that. She seemed to do okay until we landed and got on the ground. Thanks to Just for J, this trip got a major "fun upgrade". Our family was picked as their Holiday Honorary Family and they called us about 2 weeks ago to tell us that they wanted to pay for our hotel and something fun to do as a family while we were in NYC. Our first surprise was that they arranged for us to be picked up from the airport in a sweet limo! The kids thought this was just the coolest thing ever. Our driver was amazing and took on the role as tour guide and drove us through the city down 5th Avenue, Past Rockefeller Center and through Times Square on our way to our hotel. He even acted as a photographer for us once we arrived. We got checked into our room and then went to find dinner and take a very quick walk through Times Square. Here are some of the pictures from tonight but I am adding a couple different pictures just to give you the very real perspective of what it looks like to have Chiari & Ehlers Danlos Syndrome. These are the types of changes we see on a very regular basis. It's sad and hard because there is so very little we can do to impact how she feels. Henley can literally be smiling one minute and miserable the next. She is naturally very happy and generally smiling from ear to ear around people. However, once she is back at home or away from others she will just crash. Because of her extremely low muscle tone, she gets VERY tired VERY quickly after doing what normal children would not even think twice about. Couple this with a Chiari headache that is not easy to manage anyways and you have a mess. So this was Henley after walking ONE BLOCK from our hotel to a restaurant.
Tomorrow is the big day. We are excited and anxious to meet this Doctor. We have had to assure Henley that nothing is going to happen to her tomorrow and that Dr G is what we call in our house "A talking Dr." (since neurosurgeons pretty much only talk to you unless they are in the Operating Room and the kids rarely seem to associate the two since they are not awake when they are operating) We have always been very honest with Henley even when she was 2 years old and make sure that we try to tell her everything that is going on in terminology that she understands. We feel like this is really important and we want her to know that we are going to walk her through every step of this journey and that nothing is going to come as a surprise or catch her off guard. We feel like this will hopefully set her up later in life to not be afraid, but rather to be informed about things to expect and hopefully feel empowered rather than helpless like children can often feel. We have spent the last several weeks explaining that although surgery is likely down the road, it's not happening tomorrow. I will let you know how it goes tomorrow.
This post is for all of my friends out there who are fascinated by MRI images and really want a visual. We have so many of these images and truly, I only understand the parts that I am showing here. However, I am fairly certain that it does not take a trained eye to look at these images and realize that something is not quite right. All that said, I'll explain the little bit I do know anyways.
There is a picture of a "Normal Brain" and this is where I have pointed out where the brain stem is and where the cerebellum is. The arrows you see are pointing to the black space between those very important parts of the brain. There should be a good amount of space between your skull and your cerebellum (to the right of the cerebellum) and between your brain stem and cerebellum (on the left side of the cerebellum). That space is where spinal fluid flows. Spinal fluid is supposed to flow freely all around your brain protecting your brain from impact with the skull when you move. If your brain hits your skull too hard without that protection around it, this is what can cause you to have a concussion. The spinal fluid is supposed travel on either side of the brain stem and down your spinal cord carrying nutrients to various parts of your brain and filtering out the stuff that should not be there. It's basically REALLY important that spinal fluid flows freely and Henley's is clearly NOT.
The other images are Henley's brain over the years. All of these images are Post-Surgery which was done in January 2012. To most people they probably don't look very different, but it doesn't take much compression on your brain stem or cerebellum to see some outward symptom of some kind. We have been told that often times once you start seeing symptoms, the brain has already been damaged.
So what happens if the spinal fluid can't flow? Well, it chooses the path of least resistance. Often times you will see spinal fluid collect INSIDE your spinal column called a syrinx (aka: syringomyelia...but who can even pronounce that?) A syrinx can cause all kinds of scary symptoms. It can also cause Hydrocephalus. Honestly, its hard for me to even research things right now because I always seem to end up at "can cause death due to brain stem compression". It's terrifying. My baby is walking around right now at school with hundreds of other kids with this much pressure on her brainstem. Just thinking about all the things that could happen are almost too much. It makes me want to run up to school and snatch her up, put a helmet on her and keep her in my house in a bean bag chair with a good book for the next 5 weeks until we can get to New York. But what kind of life is that for Henley if her mommy lives in fear? What kind of faith do I have if this is my response? This is something I am struggling with right now. I am feeling particularly anxious this morning after reading some things and talking to some other professionals who have called to express their concern. I can't tell you how many times I have heard "Do you think she may have had a stroke?" You guys don't know what that question does to me knowing my family history of strokes. One of my grandmothers died of a stroke, so this simple inquisition is a trigger for a much deeper fear.
So, I am begging you to pray with us. We need an army of prayer warriors right now praying protection over her. Our appointment in New York is on December 15th and yes, this is the soonest appointment we could get. I told Adam this morning that I want to jump on a plane today and just go sit in his waiting room until he can see her. However, I know that God can make anything happen so I am choosing to be patient. I also know that He can protect her in the mean time before that appointment. I KNOW that the Lord is good. I KNOW that he has got her in the palm of his hand. I KNOW that he knows the outcome. I KNOW that he loves Henley more than I can even imagine. But for those of you who know me. You know that not being able to do anything but wait is like a slow death. The waiting is what's killing me.
Thank you for how you all have loved on our family. We just need the Lord's protection right now.
So this video happened on Monday 10/31/2016. After being home from school for about 30 minutes, Henley came down the stairs and asked me "What does numb mean?" I asked her why she was asking, she said "I don't know." I said "What do you think it means?" She said "I don't know". I said "Numb is when you can't feel something on your body." She held out her right hand and said "I can't feel my hand." {insert blank stare from mommy} "Uhm. Okay. Well. That's a new one."
A few minutes later we were in the car and she was talking about it some more. I took this video so that I had documentation of this event. I've gotten to the point of trying to catch everything on video because it seems like things change and happen all the time and I want the doctors and professionals we are seeing to see what I see and not just take my word for it. I want as many eyes on her as possible so that its not just "my opinion" of an actual event, rather video proof.
I have also been recording her to catch some of the new issues we are seeing with regards to her speech. Words she has been saying for years are all of a sudden unclear. A couple days ago, she was trying to tell me about something and I just COULD NOT understand what she was saying. I asked her to repeat herself about 4 or 5 times before I just finally gave up and said "Can you just point to what you are trying to say?" She pointed to her FOOT. I mean... FOOT. She has been saying "foot" since she was a toddler. She is now 7 and I can't understand some of the simplest words. Needless to say, its all very nerve wracking because to me, this screams NEUROLOGICAL and I see giant red flags waving in my face! I am now just praying for the time to pass quickly to get us to New York because I'm not sure how long I can handle watching things get worse.
The day after we got home from Boston I called up to school to talk with the school counselor. I expressed my concerns about all of the things we were seeing with Henley and asked what we could do. By the time I got up to school 3 hours later they had already had a meeting with her teacher, principal, counselor & speech diagnostics person. They had information for me and a plan to move forward. Let me just stop there and say that this school our kids go has almost 1,000 elementary students in this building (most schools have 4-500). Let that sink in. These people are so busy and within 3 HOURS of me calling up there, they were already on it! We are BEYOND thankful for the school our children are in. When I walked into the office, most of them already knew what had happened in Boston and knew how defeated I felt. The principal said to me “You know we will help you however we can.” What a blessing to feel this supported in our community.
I felt like the day we arrived back home began a whole new chapter for me. I now had lots more information, lots more people expressing concern about Henley and I felt like I wasn’t crazy or over analyzing her all by myself. We started down a path of investigating her in every way that we could. We tested did a preliminary speech eval in the school. The Speech Therapist called me and told me that she noticed Henley seemed to have developed a bi-lateral lisp since kindergarten. When I asked her if this was something that commonly developed later in childhood she responded with “Not generally. It’s most common when a person has had a stroke, develops Parkinson’s or has some other neurological complication.” Super…that answers that.
I called and made an appointment with our pediatrician to talk with her about all of the new concerns. We met that week and I laid everything out for her that we were seeing. She helped us get a plan of action together to start checking things off the list.
First up: Speech. We decided rather than waiting on the school to do a full speech eval, we would have one of my best friends who owns her own speech clinic in the area do a full speech evaluation on her since she would be totally comfortable with her and because she also knew Henley’s entire history since she has been around since the beginning. After the test she scored the results and sat with me on the floor and explained it all. She said “I generally get concerned and recommend speech therapy if a child scores as low as a 10 on this test. Henley is at a -1.” So there’s that. I guess we add speech therapy to the list of things we need to do now.
Then we tested her for OT (Occupational Therapy). During this testing, they are looking for complications with fine motor skills and gross motor skills. That seemed to highlight even more issues we had not noticed before. Both fine motor and gross motor were of great concern. This day just keeps getting better. Add OT to the list too.
Next up was the ENT. We went there to see if maybe Henley’s tonsils were abnormally large and that was causing the recent problems with eating and swallowing. Nope. Normal size. We also addressed the headaches with her doctor and took in an MRI image of her sinuses to discuss. Apparently children don’t really even develop sinus cavities in their forehead until later in childhood. So that’s good to know. The headaches are not caused by her sinuses….because she has none.
Next up: Allergy testing. We did this to make sure Henley’s headaches were not being caused by something in the air that she was just allergic to. Nope. Not she’s not allergic to anything.
The ophthalmologist was next. Maybe the newly developed reading problems and headaches were caused by poor vision? Nope. That is not our problem either. She has incredible vision.
Frustrated about still having some unanswered questions I started writing emails. I emailed the head of the research team for Henley’s genetic disorder and also a Neurologist at CHOP (Children’s Hospital in Philadelphia) that I had email addresses for. I listed out everything we were seeing and asked if these things were related to the genetic disorder or if these seemed more neurological. The response I got from both of those people was that yes, there could be some overlapping symptoms, but these things generally were not coming on later in life, rather had always been present. They both directed us back to our neurosurgeon for consultation.
I posted all of my questions in our Facebook page for the 16p families. I got an overwhelming response that matched the two doctors replies. “Yes, we do see lots of those things, but not generally acutely onset. I would probably see a neurosurgeon, it sounds like what you are describing is neurological.” one other mother said.
I texted all of my Chiari mom friends and got their thoughts and opinions too. One afternoon I got a call from one of the other moms. We talked for a while and she told me about the new doctor they went to see in New York and how amazing he was. Another one of our mutual friends was traveling there to see him also. I got the doctors information and called his office. Adam and I talked about it and decided to get a second opinion from him. I started gathering information to send to him before we could schedule a phone consultation.
That brings me to today…
This morning I got up, got ready and was heading out to BSF when my phone rang. It was the school nurse. “Henley is in my office and crying because her back is hurting. That’s a new one. Right?” “I’ll come up there and check it out. I’m already in my car.” I went in and could tell she was kind of a mess. I knew just by looking at her that her back was out of alignment because her shoulders were slanted to one side and she was standing funny. I called our amazing chiropractor and got an appointment. We went home to wait. During the time before her appointment I got a random message from my other friend who sees the doctor in New York. Her son actually just had surgery for his Chiari about 10 days ago. They are still there and she messaged me out of the blue. She said that she had been thinking about me and Henley and wanted to just pass along some info about this surgeon who had done her son’s surgery. I texted her back a picture of my stack of papers and MRI images I was getting ready to send him for a second opinion and asked her if she could call me. She did and we talked for an hour. During that conversation I texted Adam the message she had sent me before our call and he responded. “What do we need to do to get an appointment with him?”. I responded“I think we just need to fly there.”
After our call we drove to the chiropractors office. On my drive I called the doctors office in New York and told them we had changed our minds and wanted to come there to meet with him rather than just talking on the phone. We scheduled an appointment for December 8th and that was that.
We got to Dr. Haggerton’s office and he adjusted Henley and made her back feel better instantly. He said to me “its kind of unusual for a child her age to have this type of back problem.” I reminded him of the Chiari and he said “Oh yes! Well, all of this is related to the cerebellum so that makes sense.” I asked him about some of the other things we were noticing just to get his opinion on everything from a physiology perspective. He said to me something I have never heard before and its exactly what I needed to hear. He said “Well, this only gets worse as she grows.” He further explained that when we grow our brain stays where it is and our spine stretches out and pulls on the brain. (not his words…he was much more eloquent.) With Chiari your brain is basically “falling out of your skull” already and so it just keeps getting pulled further and further down the spinal column. I asked him that if she were his child, what would he be doing every single day for her. He gave me some great suggestions to feed her brain and give it everything it needs to function properly, but more importantly he said exactly what I needed to hear. He pressed his finger on my shoulder and said “If there is pressure here in your shoulder and its causing all kinds of pain and problems and you keep growing and your arm stretches out and pulls even more on that stressor but you never release the pressure from here (where his finger was pressing), then you just keep having the same problems. You have to fix the source of the problem first and then you can worry about regenerating all the functions.”
Then he looked at me and said “I feel like the Lord wants you to know that you have done everything you can here and you are doing a great job.” “Go see that doctor in New York.”
I feel like I needed to hear everyone that I truly respect in the medical & holistic field tell me that I need to go in a direction. The SAME direction. I feel like the Lord has been so gracious in giving us absolute clarity in the way that we needed to receive it before moving forward. So here we go.
Today is the day. I finally got the answer to my recent prayer. Prayers for direction, for CLEAR unmistakable direction. I’ve been praying this prayer for months. While waiting on the Lord to give me the answers I have been wearing my investigator hat. I have been waiting to post anything until I really felt like I could wrap my head around what has been going on and what we were dealing with and how we needed to move forward from here.
I can not even count how many people have asked over the last couple of months “how is Henley doing?” If you had asked me June, I would have said “Things are great, we are in a really good spot right now and things seem to be pretty stable.” However, if you have asked me the same question since August you may have gotten a less straightforward answer. Only because I truly didn’t know what to make of the little things we were seeing at home.
Over the summer Adam and I noticed ourselves saying the phrase “What was that?”, “What did you say?” to Henley more than usual. It seemed as though something was different, but just slightly. Even Haven would be asking her to repeat things because she could not understand what her sister was saying. We tried to find a pattern. Was it when she was overly tired? Was it when her head was hurting? But really, we could not narrow it down to any specific cause. As August went on, it seemed like the speech kept getting more lazy, more slurred, more “slushy” sounding, especially when the weather changes.
Henley was also complaining about a headache EVERY. SINGLE. NIGHT. for several consecutive months. Every night we would use her essential oils, fill her diffuser and she would ask for an ice pack to sleep with on her head. Same routine. Every night. In the morning she would wake up, report no pain and run on about her day like there was not a care in the world. What do we make of this? What is causing the headaches? Is it the Chiari? Is it that she is over exerting herself and its causing fatigue headaches? Is she allergic to something in the air? Are her eyes bothering her? So many questions.
In early August Henley also started having some slight problems eating. I say slight because they were inconsistent and some times they would be a huge deal and some times not at all. Weird things too. Like all of a sudden she stopped eating the crust on her bread. And not just like a “I am 6 and I just decided today I don’t do crust on bread anymore” but more like she would put it in her mouth, chew it and chew it and then have to go spit it out in the trash can. It was like she couldn’t figure out how to swallow it all of a sudden. We even tried other breads, like a croissant. She would chew and chew and when it came to swallowing the bite she would grimace like it was painful to swallow the bite. She even mentioned a few times “It’s hard to swallow” or “It hurts to swallow”.
Henley had her yearly MRI and check up with her Neurosurgeon at Cooks the first week of September and he stated that things looked the same from last year’s MRI and that while everything is still very compressed in her head, unless there were symptoms, we did not need to intervene, i.e. have another surgery. He chalked up the food issues to a simple childhood food aversion and we told him about the headaches to which he basically told us we could put her on a migraine medicine but that was pretty much our only option. Frustrated with those answers, but feeling like my hands were kind of tied, we went on. I mean, I am no neurosurgeon….just a mom, right? What do I know about my own child?? ugh.
Henley started First Grade this year and has a phenomenal teacher who we adore. I know that she was hand picked for Henley and it’s a perfect match for her. This teacher is unique and perfect for Henley because her own 28 year old daughter has had her own extensive medical journey similar to Henley’s, and so this momma, not only has many years of teaching experience under her belt, but she has also been in my exact same shoes with her own baby and understands it all in a way that so many others just can’t. I say all of that to say that the Thursday before we left for MIT in Boston, I got an email from her expressing concern about Henley. She mentioned that since the beginning of school she had noticed regression in her reading and speech and just connecting in general. My initial thought was that we were only about a month into school and that maybe Henley just was not as comfortable with her new teacher yet and was needing more time to adjust. I asked if I could have her Kindergarten teacher pull her to asses her as well and give me her opinions too. She did and came back with the same concerns. She stated that not only did she see the same problems her new teacher observed, but that she felt like Henley wasn’t quite “all there”. In addition to that she mentioned that while walking her back to class she witnessed Henley trip 4 times in the hallway. When I asked her to explain, she said “It’s not like she is tripping over her shoes, It’s like her brain isn’t telling her feet to move fast enough”.
We went to MIT in Boston to participate in a research study being done by Simons VIP Connect that is studying Henley’s rare genetic deletion 16p11.2. This specific study was going to just so happen to be looking at how the brain processed speech with a fMRI (Functional MRI). This study is done in an MRI machine while the person is awake and they ask the person to partake in activities while watching what happens in their brain when they do. THIS did not go well. Long story short, it was traumatic. I saw a side of Henley that I have never seen before. I saw her in a full out panic attack and it was….hard. I cried, she cried. It was not happening. We were able to complete some other parts of testing they were needing, they assured me that it wasn't a totally wasted trip, but it sure felt like it to me.