Sleep Apnea?

Kyle still has something seriously wrong with him.

However, he amazes me. He is doing well (supporting his head) with his halo off. He has 2 neck collars and 1 neck collar/brace (that insurance does not cover, grrr) but Kyle doesn't like them. Keep in mind, Kyle has Klippel Feil Syndrome too so his neck is short, and apparently you need a neck for such devices because none of them truly fit Kyle.

Anyway, Kyle is just happy to be able to put his head on a pillow. However, Kyle still vomits every day. His voice is still muffled and hoarse. He still pauses in his breathing for long periods of time, consistently, while 'trying' to sleep. I've mentioned this to his neurosurgeons several times throughout the months but nothing came of my concern. So I got fed up and emailed his regular doctor at 1 o'clock in the morning on October 10th. At 8am his pediatrician told me to come see him that afternoon. At that appointment, Kyle's doctor scheduled Kyle for a sleep study to check for sleep apnea; also referred Kyle to a Head and Neck Surgeon to check out his throat.

October 12th, I took Kyle to see the Head and Neck Surgeon who used a scope down Kyle's nose & throat to see his voice box. He said Kyle's voice box cartilage is severely swollen and weak. So swollen that it is obstructive and flaps when Kyle breathes in and out. He believes stomach acid (reflux) has inflamed this area. He's not sure why the cartilage is as weak as it is but he suggested to start with medicines to reduce Kyle's stomach acid (which helps with his vomiting issue). If his voice box does not heal then Kyle will need surgery BUT the doctor said it would be an extremely dangerous and difficult surgery because of Kyle's restricted airway.

The Head and Neck Surgeon then told us he will review the sleep study, which is scheduled for October 16th, and let us know if Kyle will need a CPAP or not.

Should know more by the end of this week.

The Halo is Off

Kyle got his halo removed yesterday. He did great!!

His procedure was scheduled for 9am in the OR. Generally, a halo can be removed in an doctor's office but Kyle's neurosurgeon team wanted to removed it in the OR. I'm guessing the issues that occurred in May caused quite the stir so they wanted to be 'a little extra cautious with Kyle'.

The day before this procedure we received a phone call from the Pediatric Anesthesiologist who was with Kyle in May when that procedure went terribly wrong. He spoke with my husband and wanted to make sure we were okay with him being on the team for this procedure. My husband told him yes because he knows Kyle's history. A few hours after the phone call I received an email from the Pediatric Anesthesiologist explaining he will make sure Kyle is safe and comfortable for the halo removal. All of the fuss over Kyle's halo removal procedure does seem a bit out of the ordinary but we are happy that the neurosurgeon team is being cautious.

Kyle only took valium for the procedure. The doctors were planning on numbing each pin site with local anesthetic but Kyle refused. Kyle's dad and I was not allowed in the OR so Kyle took his video camera with him and asked one the nurses in the OR to video some of the procedure, and they did!

About an hour later we were called to meet Kyle in the recovery ward. I was excited to see him so I rushed to the ward and I forgot Kyle's bag of clothes and shoes in the lobby. ;)

He looked good! He had a collar on, hooked up to an IV and monitor leads. His long hair covered his right eye. He looked at me and said, "I feel good". He was rubbing his chest that we haven't seen in 11 months. He looks a bit soft which means he needs to tone up now that he is free from his halo.

The 10 pound halo and vest was now in pieces laying in a bag at the foot of his hospital bed.

The pin sites healed quickly. The doctor put a little circle band aid on the front two pin sites  but a few hours later the sites were nearly closed. The back two sites are hidden by Kyle's hair but they look fine too.

The neck collar they put on Kyle didn't fit. Kyle's neck is short thanks to Klippel Feil. So his doctor told us to go to the orthotist office after he got released from the hospital to have a collar and brace made to fit him.

The orthotics visit took forever! Kyle was hungry and tired but we couldn't leave until he got a collar and brace that fit him. The orthotist worked a long time on customizing a brace to fit Kyle but gave up and started working on a different type brace. It was frustrating but they finally came up with something that worked. However, when we left the orthotist office we walked to a nearby restaurant and Kyle was beyond frustrated with eating with his new brace because the brace pushes under his jaw preventing him from opening his mouth to eat. On the ride home he ripped the brace off.

Depression & Halo Issue

The month of August, depression hit Kyle. He didn't feel like eating. He didn't want to get out of bed. He wouldn't leave the house. He stopped hooking up with his friends online. He suffered from headaches every day. He vomited every day. He couldn't sleep. Part of it is the halo, he wants out.

Kyle's voice became muffled again and he is having major issues swallowing solids again. He's also congested, he's fighting mucus buildup in his throat and chest.

Why is he feeling so bad? He did well on the steroids for his swollen spinal cord. But a week after he was done taking the meds he no longer was ok.

I think, the halo is the problem. It is messing with his psyche. He's been in the halo long enough.....since Nov. 8, 2011.

By-the-way.....Is it possible to outgrow a halo?

To me, it appears Kyle is outgrowing the halo. It appears the halo is pinning him in a slightly bent position now. He won't strand straight. I can only imagine how difficult it is to swallow with a short neck (Klippel Feil) that is fused and being forced down and inwards to his chest now. The halo needs to come off. But sadly it's not up to me.

His neurosurgeons had him get a MRI and CT scan in late August. After reviewing the scans they told us everything looked fine. His swollen spinal cord healed. The pin sites were ok. But they didn't say anything about the fusion. They told us 'see you in November for another follow-up.' What? November? What about getting Kyle out of this Halo? I had to let Kyle know he might not get the halo off until November now. He screams at me. I don't blame him. I scream with him.

So I took him to see his Pediatrician. He needs help for the vomiting, the headaches, the mucus. Kyle's pediatrician puts Kyle on meds for a possible infection. Kyle has been taking amoxicillian, Flonase, Albuterol, and QVar since the first week of September. It's helping slightly with the mucus problem and his headaches eased off a bit too.

Kyle's voice is my alarm to 'something is wrong'. Losing his voice was one of his first symptoms of Chiari, before we knew it was Chiari. So it concerns me when his voice starts to disappear again, as it did in July when he had the trauma to his spinal cord.

Strangely, his voice is now mostly muffled when he is in an upright position, when he is lying down he sounds clearer. Kyle says he feels better lying down. Hmmm......

Klippel Feil Syndrome

We haven't mentioned much about Klippel Feil in this blog but it is something Kyle lives with as well as Chiari Malformation.

Klippel Feil is an uncommon birth defect. We were told it is not genetic but likely caused by a vascular problem during development. We were told that during my pregnancy (around 6-8 weeks gestation) the blood supply to Kyle got cut off, which could have been for a split second, and it effected his spine, his heart, and his kidneys (for all we know). Of course, if you google Klippel Feil you may find other reasons for it but this is what we were told by two genetic doctors about 12 years ago.

So, before Kyle turned 1 year old we found out Kyle has Klippel Feil Syndrome and his related birth defects included fusion in his cervical vertebrae (absent arch at c4 and deformed body of c3), abnormal ribs, a heart murmur, and one kidney. It wasn't until Kyle was almost 12 years old we found out he has Chiari Malformation.

Kyle is very smart and all boy. He was very, very active until he was 9 years old when he started to slow down and I believe that is when Chiari started effecting him.

How we first noticed something was wrong with Kyle was the obvious issues of short neck, his head tilt to one side, and he could not turn his head (we noticed his shoulders turned with his head.) His doctor though it might be torticollis so he had Kyle in physical therapy to "stretch" his neck. A big no-no once we found out it was a bone issue. My suggestion to parents is to have x-rays done before any physical therapy.

Kyle totally outgrew the tilting of his head and I can't really say why or how but he did. Although, when he is sick or extremely tired I notice a slight tilt in his head. What people notice the most is they think Kyle is shrugging his shoulders upwards. Which of course he's not but because his neck is short it does appear that way. His shoulders roll forward more than they should and looking at his back one shoulder blade is higher than the other. Recently we noticed his upper rib on the right side is protruding out a bit. 

We were told there are a few precautions with Klippel Feil such as no contact sports; avoid extreme flexion, extension and rotation of the neck. Although Kyle tries to defy these rules quite often.

My other main concern for Kyle is his single kidney. Kyle has to watch what he eats and drinks to keep his kidney healthy. He has always had a higher level than normal of creatinine and blood urea nitrogen (BUN) in his blood. His kidney specialist watches his levels closely to make sure those levels stay within the norm for him.

Kyle has not had any surgery for Klippel Feil. Although his Chiari surgery did have to take his Klippel Feil into consideration which made his decompression surgery difficult and slightly different from other people with Chiari.

I love my Kyle with all my heart. I hate that he has many health issues, but he is a very strong young man. Not to mention he is fun to be with and a pleasure to have deep conversations with; ask anyone who knows him! ;)

Going to England...well, my images are

I saw my doctor on Friday. He told me that he is going to England in a week to do a talk about Chiari and my images are going with him. He said my condition is so rare and severe because I have Klippel-Feil and Chiari that my surgery was complicated and I'm a good study for his talk. He said he wish I could fully understand the complexity and severity of my condition. Dr. Pang looked excited about his presentation and he offered to show it to my parents and me. After my exam and after Dr. Pang told me I have to have my pin sites moved, he took us into a conference room and showed us his PowerPoint presentation. He said the presentation is very long but he went over the highlights with us and when he got to my images he showed us everything and explained what he will be talking about in England.  My images are going to England. :)

Living With a Rare Disease

Welcome to the First Chiari Carnival Celebrating Rare Disease Day

Hello everyone. I am Kyle. I am 12 years old, in middle school, achieved green belt in Karate, and I have Chiari Malformation.

Chiari Carnival: Chiari is typically a birth defect that goes unnoticed for years or decades. When did you receive your diagnosis and how old were you?

Kyle: I received my diagnosis in September 2011 and I was 11 years old at that time. My parents knew something was wrong for over a year before we found out my condition. It took many, many trips to the doctor before being properly diagnosed. I had a MRI in September 2011 and that is when we immediately got a call from a neurosurgeon.

Chiari Carnival: Many Chiari patients have been diagnosed with other conditions. Do you suffer from any other conditions besides Arnold Chiari Malformation?

Kyle: Yes, I was born with Klippel Feil Syndrome too. So, my anatomy is different from normal people. Basically, my cervical vertebraes are deformed. We also found out I have only one kidney but that doesn't have anything to do with Chiari.

Chiari Carnival: Patients who have had decompression surgery are referred to as zipperheads. Are you a zipperhead and have you had any other Chiari related surgery?

Kyle: Yes, I'm a zipperhead. My decompression surgery was in November 2011. It was scary for me to find out I have Chiari then have surgery in less than two months later. But my case was severe. I was getting so weak and partial paralyzed. My procedures included decompression surgery then I was in traction for a week (to try to straighten my cervical vertebraes a bit). Then I had the fixation surgery (implants for fusion) 8 days after my first surgery which puts me in a halo for at least six months.

Chiari Carnival: Western medicine focuses on medicine and medical procedures. However, many people benefit from ‘alternative’ therapies. What is your favorite non-medical/non-medicinal treatment for symptom relief?

Kyle: Before my surgery, I had to lay down all the time. I didn't have strength to do much and because my parents and I didn't know what was wrong with me until September 2011 I didn't take many medicines besides Tylenol for my headaches and albuterol for my breathing (thought I was suffering from asthma but it happens to be a Chiari symptom). I don't have a favorite non-medical treatment for symptom relief.

Chiari Carnival: Since Chiari affects the brain and nervous system some patients report symptoms which are difficult to describe. What is your most bizarre symptom?

Kyle: I was getting weak on the right side of my body and I couldn't explain how it felt. My parents thought I was just giving up using my arm and they thought I needed to work out or lift weights to build muscle. But I couldn't explain why I couldn't use my arm, or why my right leg was dragging. I guess because I didn't know what was going on. Then I would fall all the time. My parents would look at me and ask why did I fall and I would tell them I tripped but they were confused because nothing was in my way to trip me. I would just lose all feeling for a moment that caused me to drop to the ground. The loss of control embarrassed me and frustrated me.

Chiari Carnival: Dealing with pain and symptoms day after day can be very challenging and many state that their loved ones just don’t understand. What would you like others to know about living with Chiari?

Kyle: I don't like to complain but....it sucks. People expect everyone to be able to do the same things. When I say I can't do something it IS because I CAN'T not because I don't want to. I want to feel good and do crazy things with my friends but I'm limited. Chiari changes you and I don't know if I will be able to go back to doing stuff that I use to do. Such as going on roller coasters, or jumping on trampolines, or snowboarding, or sparring.

Chiari Carnival: Attitude plays a huge role in feeling healthy. What activities do you engage in to keep a positive attitude?

Kyle: My friends, my neighbors, my family and all of my parents friends have said they have never heard me complain. (I do vent to my mom though). I just want to feel better and not have surgery again. I'm still in a halo and I want to get out of this halo and go back to school and be with my friends. Unfortunately, I'm expecting my neurosurgeon to tell me more surgery is to come because some of my symptoms are returning.

For now some of my activities are playing video games with my online friends from around the world;  flying kites at the park with my dad; go on walks with my mom and sisters; sweet-talk my mom in taking me to Starbucks; go to the movies with my cousins; and my not-so-fun activity of doing homework.

Chiari Carnival: A great quote can remind us to keep the faith during those dark moments in life.  Can you share a quote or saying that provides you with inspiration?

Kyle: "Learn from yesterday, live for today, hope for tomorrow. The important thing is not to stop questioning." - Albert Einstein

Chiari Carnival: On behalf of Chiari Carnival thank you so much for sharing some of your Chiari journey with us. 

Kyle: No problem! I'm happy to be a part of Chiari Carnival.

My mom helped me with this post. Thank you so much for stopping by and reading my story.

Klippel Feil

Klippel Feil syndrome is a rare birth defect that affects the spine. The doctors told my parents Klippel Feil is not genetic. There can be several symptoms associated with Klippel Feil but the most noticeable one is a short neck. I have a short neck with fusion in some of my neck vertebraes, and I was born with a single kidney. My parents told me they had a MRI done on me when I was 9 or 10 months old but they were told my brain was fine. I'm curious why they didn't notice my Chiari then.

Klippel Feil Websites: Click here or here




*note: my mom helped me with this post

What is wrong?

At first I didn't know what was wrong with me and I didn't know how to explain to my parents what or how I was feeling. Which was: I was tired a lot; I wanted to lay down all the time; I had headaches; I had dizzy spells. Then I started not using my right arm and hand. I got weaker in Karate. Then I started falling/dropping for no reason. And because I couldn't explain it and my parents didn't know what was wrong they did a lot of guessing.

They would ask me: "Why are you being lazy?" "You are not eating right, you need more vitamins and fish oil." "You need more sleep." "Try harder." "Use your right arm."

Of course, nothing changed.

I also have Klippel Feil, I was born with a single kidney. So my parents insisted something was wrong with my kidney. But nothing showed up too abnormal. So my parents started worrying that maybe my symptoms meant I had MS or Parkinson disease. They kept taking me to my doctor to find out what is going on.

Finally, nearly a year after my parents started getting concerned with thinking something was seriously wrong with me, my doctor ordered a MRI scan. The scan took 2 long, uncomfortable hours. The next day, my doctor called my parents and told them that a neurologist will be contacting them and that I should not be doing any physical activities.

We met a neurosurgeon about three weeks ago. And that is when they told my parents I have Chiari malformation.

Everything is going to change.