Kaylee and Chiari Malformation I, Syringomyelia and Ehlers Danlos Syndrome III (Part III and final part)

What is Ehlers Danlos Syndrome, Type III, hypermobility?

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002439/

Ehlers-Danlos syndrome (EDS) is a group of inherited disorders marked by extremely loose joints, hyperelastic skin that bruises easily, and easily damaged blood vessels.

Causes, incidence, and risk factors

There are six major types and at least five minor types of Ehlers-Danlos syndrome.

A variety of gene mutations (changes) cause problems with collagen. This is the material that provides strength and structure to skin, bone, blood vessels, and internal organs.

The abnormal collagen leads to the symptoms associated with EDS. In some forms of the condition this can include rupture of internal organs or abnormal heart valves.

Family history is a risk factor in some cases.

Symptoms

Symptoms of EDS include:

    Back pain

    Double-jointedness

    Easily damaged, bruised, and stretchy skin

    Easy scarring and poor wound healing

    Flat feet

    Increased joint mobility, joints popping, early arthritis

    Joint dislocation

    Joint pain

    Premature rupture of membranes during pregnancy

    Very soft and velvety skin

    Vision problems

In the months to follow we had a lot of mental preparations to make. Our faith  in God was stronger than it ever had been. I spoke to past patients and their parents of this doctor. I was finally ready to sit Meghan and Brian down and tell them everything and I cry even now thinking back at that. You have got to be ready to answer every question they may have, as honest as possible and my God I don’t think a parent is ever ready. They were very scared about the surgery but we took them to the doctor and he showed them all this brain stuff and answered questions professionally and it was a great idea to do!! It eased a lot of pressure.

  I read all there was to know about Chiari and Syringomyelia. I left the EDS for last so as not to put my brain on overload. But in the meantime we were sent for genetic testing for it. This was also something that our insurance didn’t cover. Can you believe that? Anyway this was so interesting.  Anyone was free to come in our family for $25.00 but unfortunately there weren’t any takers. Not even Chris, which made me mad but that was his choice.  I am often accused of diagnosing my family, siblings, with things they don’t have (but I think they do lol). I guess this is something that they didn’t want haha!! As far as everything came back it was found that Kaylee, Brian and I all have EDS Type 3 hypermobility, which is the one to have if you’re going to have it!!  Meghan did not. This didn’t make our chances greater for having Chiari supposedly, the tests were not considered justifiable for Brian and I to be further tested with MRI’s etc, seeing as we had no symptoms… so that was that.

The more I learned about it the more I was convinced that it was linked to how Kaylee’s brain formed in utero and how the Chiari could’ve come from having this.  This is why I was excited when I stumbled upon this most recently, on of all places, Wikipedia!!!

Syndrome of occipitoatlantoaxial hypermobility is an acquired Chiari I Malformation in patients with hereditary disorders of connective tissue.

*****[8] Patients who exhibit extreme joint hypermobility and connective tissue weakness as a result of Ehlers-Danlos syndrome or Marfan Syndrome are susceptible to instabilities of the craniocervical junction and thus acquiring a Chiari Malformation. This type is difficult to diagnose and treat.[9]*****

Normally I don’t trust it as a source, but I will take it LOL!!! It’s the first time I’ve seen it in writing and it helps me to know that it’s all connected and that I am not crazy. It also proves to me that it is hereditary and this is also good to know obviously.

I learned that it is maternally inherited which means that most likely my mother has it but not necessarily. I have already diagnosed her with it so it’s fine with her. She really just needed to have the gene and with that gene it would be a 50% chance for me to pass it to my children. Unfortunately her only sister had passed away one year before but from what the symptoms were, I was pretty sure my Aunt had it too (there I go diagnosing, but  I have stronger reasons now why I know that).  Anyway on the day of the surgery they would do a skin biopsy to be sure of what type and that was all they needed. Whatever she had, we had so that was that. We would wait.

April and May were difficult to say the least. We had some resistance from family and friends who had never heard of this. They didn’t understand “why we needed the surgery done” and acted as though it was something we hadn’t put any thought to. I tried to be understanding that it was just their way of worrying too, but I was pissed all the same at the lack of total support. That’s the thing. At a time like that we all become judges right? We all think that we have some right to decide what’s best for that child or what we would do or what we think. Here’s my advice.

Shut up. Yup I said it and I will say it again. Zip it (haha Kay would love that pun).

If it’s not you, and your decision to make then you do not know. I don’t care who it is. That child wasn’t in your womb for nine months, their heartbeat one with yours and a life that you grew inside of you waiting to meet their eye contact for nine months. A child you worried about for four years and finally had answers and were told from five doctors consistently in one year that she was in danger of being paralyzed from a fall as simple as falling off of a bike. You didn’t hold her as she cried holding her head so tight that she’d lose circulation in her hands and try to pull her hair out until she would pass out no matter where she was or what you were doing. You didn’t see that bulge on the MRI. No matter what different opinion the doctors all had, they all said not having surgery wasn’t an option. You didn’t form an unbreakable bond that ONLY a parent can have, so do not think for one second that YOU know what’s best for that child. You do not.

Rant over.

Where was I? Oh yes, May. Lovely, well not really. My husband’s father died suddenly in May of 2004, about 6 weeks before Kaylee’s surgery.  They hadn’t spoken since 1997 over ridiculous circumstances. I look back now and I say that I was probably not as supportive as I should have been for him. I was a robot really, void of any emotion whatsoever be it happiness, sadness, empathy. I was just FULL SPEED AHEAD, MOVE ON. He had to deal with that, on top of all that we were going through. That couldn’t have been easy.

Here we are at June. The days are numbered now three weeks away and as luck would have it Kaylee gets “Molluscum contagiosum”.  Here’s a link if you care, but in short they were viral skin warts.

http://www.mayoclinic.com/health/molluscum-contagiosum/DS00672

She was always getting funky skin stuff (like me and Brian) and it was Brian who came home with them one year before!! It takes at least a year to go away but you can have them removed. In Kay’s case guess where she got a pretty big one??? THAT”S RIGHT!!! Right at the nape of her neck, exactly where the incision would be made! Now, he could not do the surgery with that there. If he cut and that wart was there, the virus would spread to her brain and she would have major issues going on. Ok, find a dermatologist, right? Wrong. One after the other refused to remove it. They didn’t fit us in for an appointment or once they heard what the urgency was they wouldn’t do it. I mean they said NO. I didn't even know they could do that!! 

That is why I will shout out to the world that Dr. Josiane Lederman is an angel on Earth. I dropped Kay at school and I was just at my wits end. I went into the office and I asked to speak to the dermatologist. She took the time to talk to me. I poured my guts out, crying and confused. Why after all of this time, we have come so far and THIS is what gets in the way??? A wart??? What the hell am I supposed to do? It was all I could take, my heart just couldn’t take another thing. She said three simple words that brought me back together.

“Go get her”.

Kay was in the office 15 minutes later. Dr. Lederman, at no charge, lanced it off and sent us on our merry way. (Please direct all of your dermatologic needs to Dr. Lederman on Staten Island in Bullshead lol) LOVE HER.

Next was blood to be banked. They gave us the option to have our families donate just in case she needed a blood transfusion. My mom and brother were Kaylee’s blood type along with myself, so we headed into the city before hand to donate. My brother will always be my hero and when I get real mad at him sometimes, I just picture him all that time in a chair giving a whole lot of blood. Of course as funny as he is he made what could’ve been a crappy day into a real funny one! My mom all 110 pounds of her was a trooper lol, and was drained of all her color!!

Next was the healing mass. Yes you heard me, the healing mass. Not because I wanted her healed, I mean it would be a bonus lol,  but because I wanted all of us healed inside. So the whole family, Aunts, cousins, Grandmas, siblings, everyone headed over to Our Lady Star of the Sea for the Tuesday night healing mass. Oh it was so beautiful and they said that you knew the blessed mother touched you if you smelled roses. I am telling you Kay smelled like Roses for weeks. I don't care if you believe it, I KNOW it.  It was beautiful and we were ready.

Before we knew it the day of surgery had come. We were packed and ready. I had to leave the other kids and that wasn’t easy. I don’t think I have ever been so afraid in my life. I had faith in God and I never doubted our decision but the fear was just there, in the pit of my stomach and I don’t remember breathing. I can remember the doctor talking to us and telling us what was going to happen step by step and he stopped and looked at me and said “what’s wrong with you? It’s not like its brain surgery or anything?” I loved this man and his crazy humor and his positivity!!! Chris carried her into surgery, as she was sleeping in his arms of course, and he was there when they administered the anesthesia. This was at 11:00 am and he said he’d see us in three hours. I can’t tell you what happened in those hours. I know my mother and sisters were sitting across from us. But I don’t recall anyone talking, just praying.

At 1:45pm he came out and said she did great. He said the Chiari was more “impressive” than what he had seen on the MRI which wasn’t uncommon. Due to her EDS she couldn’t have the normal sutures (the skin is so thin that stitches rip out easily) so he did internal dissolvable stitches and cauterized the outside. We went into a hallway and we waited for Kay to be wheeled out. This was difficult and I don’t need to go into detail, I can’t because I won’t make it through it, but she didn’t take well to the anesthesia. It was very difficult to see her messed up like that. She had just woken up so she was crying and very nauseous. It was terrible. Before long she is coming around and asking where meema and Aunt Linda are. Now I am at ease, she is responsive and she has a memory. Brain surgery can affect many things, as each hour passed I was put more at ease. She had unfortunately ripped the IV out of her wrist like the HULK so she needed stitches there. She had the skin biopsy done for the EDS and this was the worst scar of them all lol! Holes all over, we were a mess!!

But we were blessed and it was over, the worst anyway, was over. She came through and now she would be on the road to recovery!!

They gave morphine for the remainder of the first day but on the second day it slowed her heart rate too much so they took her off. The second day was hard. She kept throwing up, she was in pain and there was no relief so I just told story after story of lollipopsicle world, her favorite mommy story. She sat up four times which was awesome and more than the doctor expected. She sat for ten minutes at a time and then would get dizzy and then I’d make her lay back down. She stood once, very slowly but almost passed out. She slowly walked five steps to the bathroom and so they removed the catheter. She was making great progress on day two!! She was moving her neck side to side slowly and we had daily exercises to do that she did with ease slowly. 15 minutes was the longest she was able to watch television before crying that her eyes burned.

She didn’t smile once that day, she was grumpy which they said from the steroids she would be. I was so nervous that a nerve had been affected and she couldn't smile, ever again. This was, after all, a possibility and I was freaking out. No matter what we all tried, she just didn't smile. Hours later,  Chris came in the room, she lit up like a Christmas tree!! "DADDY!!" and she smiled big! When he left, she went back to being grumpy lol. She was talking very slowly and very low which they said it would hurt to do anything else. I did not let anyone visit, ever. I am strict with that. I didn’t want the germs, didn’t want to entertain, didn’t want anyone to see her like that….she was very swollen and she didn’t look like Kaylee. This time should be spent healing. She called Brian and Meghan and told them about what was happening and she said “Don’t have fun without me”. She was a trooper.

The next day she wakes me up and says “Get me out of this bed” in a low raspy voice. I did just that. The doctor told her if she walked up and down the hall (with help) and ate something, she could go home. She was determined. That day there was a magic show and I forced her to go even though she wasn’t in the mood. She was very obnoxious to the clown. She was calling him out on every trick “the balls behind your back” and “you pulled it out of your sleeve” and when he said what’s your name? She said softly “Kaylee” and he was goofing and said what? Cake head? And she said, “nooooo Kaylee!!!!” Then looked at me and said “Get me out of here”. Of course, her name ever since is Cake head. It is our memory and also it a reminder to her that she is a warrior! So I have loved that name ever since. Well, she did what was expected and the doctor saw no reason to keep us there.

I left her in the room while she slept and I went to sign the discharge papers, and learn about the after care. Chris came and got us and we were out!! In the car, I call the pharmacy to order the prescriptions and when I go to get my credit card, my wallet is gone. Yup, someone at the hospital robbed my wallet. Can you believe that?? As if that was even something to stress about now! So when I got home and got her settled I called everything and cancelled it. Can you imagine worrying about this at a time like this? Too late, they had already charged 650.00 in stuff from a Rite Aid. I thought immediately it was the woman in my room and she needed prescriptions for her child. I forgave her. Kaylee overheard Chris and I talking about it and she said “the clown ripped you off”. Just like that. That was the first time I laughed in a long long time!

The amount of medications that came home with us was very scary. I had to do the cocktail of Tylenol and motrin for pain and decadron (steroid) so her brain wouldn’t swell and pepsid for her stomach and Kefzol an antibiotic.  I was tired but I did it. I can’t remember anything, it is truly a blur, but I remember the day after we brought her home from the hospital she asked for fresh air. She went outside and picked up the basketball and started shooting hoops and getting each one in!! A month later we bought her a bike and for the first time ever she pushed the pedals herself!! She is a miracle to me.

I wish I could sit here and say it was a long recovery process, it wasn’t. It was actually amazing how quickly she recovered. Three months later we took her for her follow up. The doctor had said it may take up to a year for the syrinx to dissolve. I prayed that there was some progress, some proof that this was the right thing to do. He told us that day that her recovery was amazing and that we could not have asked for better results. The Chiari was decompressed, there was an increase of anterior flow of spinal fluid to the brainstem. The syrinxes were a slit like state throughout the spine. This would pose no danger and no damage to her brain. She had full range motion of her neck, with no pain. He said the “loose joints thing” helped with that! Everything happens for a reason and a cure is always a foot away! One year later, the syrinxes were GONE and her Chiari was so slight that he said doctors might not even have known she ever had it LOL! Love him.

That was the roughest time of my life, our lives. 2003-2005 took its toll, let me just tell you that. Anyone who knew me then will tell you, it sent me over the edge for a while after and I did a lot of soul searching in the years to follow but inevitably through it all Chris and I made it through a very dark time, battered, beaten, torn and tested. We made it. Kaylee on the other hand proved to be my Earth Angel. I don’t know what lays ahead for her but I do know that whatever it is, she will brave through it and kick it’s butt.

Anyway that’s her Chiari story about her decompression surgery. I’m going to blog about the years to follow and the challenges academically that she had to overcome but for now, let this soak in. She has no headaches, no Chiari headaches anyway, ever since the day of the surgery. There have been other hurdles she needed to jump over, but that's another story. 

She's at the age now where she is ready to learn about it and she wants to "do" something. She wants to contact the hospital and some local neurologists and ask if she can be someone that kids, that are due to have surgery, can talk to . I love that idea! She's inspired me too. I know it would seem that at a time like that maybe I should have talked about it more, wrote about it more, but it wasn't the case. Unfortunately just like anything else there are so many groups of people that I didn't fit into. I was so optimistic and I was grateful that the worst was over. I didn't want to read the stories of all of these people suffering and having their fifth surgeries and children in wheelchairs, oh my goodness, it was so overwhelming. I took the time after to heal, to find out who we were and what road we belonged on for the future. I don't regret it, and I'm glad we all got through it. But now, I would also like to do something. I just don't know what that something is. So I wrote it. 

One day, some Mom is gonna get the news that we did. She's going to Google it. I pray that this blog comes up. I pray that it gives them hope and that it puts them on the right path!

Kaylee and Chiari Malformation I and Syringomyelia (Part II)

What is Syringomyelia?

http://csfinfo.org/education/patient-information/what-syringomyelia-sm/

Again I like this site so I only share what makes sense to me and fits things in our case.

Syringomyelia (sear-IN-go-my-EEL-ya) (SM) - Spinal fluid can build up inside the spinal cord due to blockage from a Chiari mal-formation (CM), spinal trauma, a tumor, or other causes. As the amount of spinal fluid increases, it creates a cavity in the spinal cord called a syrinx or syringomye-lia (SM) which results in stretching and, eventually, injury to nerve fibers.

http://csfinfo.org/files/5813/6769/8032/About_SM.pdf

Love this above, really breaks it down.

Oh I know, I’m dramatic! I had to keep you coming back for more didn’t I?

So to recap: Kaylee has all of these symptoms for years and finally they all seem to make sense once she is diagnosed with Ehlers Danlos syndrome, which may be why she has a Chiari Malformation I (my thoughts using my knowledge of it, not medically supported lol) which led to Syringomyelia.  For instance, her soft voice, gentle movements, apparently she learned at a young age how not to induce the pressures that may cause the headaches. Things like before she would sneeze, she would pause and let it out gently like a dainty sneeze (not ACHOOOO but ptoo). Sneezes cause pressure to the head, go ahead sneeze, it’s true. There were other things that if you message me I will say but she’d kill me for posting haha!! So do coughing, constipation, jump roping, running all things that cause pressure to the brain. She would avoid all of these things. That really bad flu she had? It was not caused by anything above just what I believe to be divine intervention. The doctors said that a bad flu or head injury can be what brings out the symptoms and in this case it’s what started everything and made me put it all together.

So we drive home from Long Island after a 13 hour day at the Institute and we are broken. We pulled up in front of the house and Chris says, “We are going to NYU”. I am not agreeing to anything they just said, just so we are clear.”  Agreed.

That’s when we went to see our doctor at NYU. I am not bashing the doctors that we originally saw, I am grateful that they gave us the information we needed and I felt very educated from the experience. However, this doctor was simply a better fit for us and our beliefs from the start. He was cocky, but we liked it. If someone is going to do brain surgery on your child you want them to be cocky. After sharing our experiences at the institute, let’s just say he had a different approach on things. Let’s start for instance that at that time, in 2003, the Chiari Institute had performed more than 300 decompression surgeries in the US. This was more than any other hospital or doctor. Our doctor had done 2 per week and saw four patients a week on average with Chiari/Syringomyelia. He also made it a point to say that he didn’t do the decompression surgery on Chiari patients just because they had Chiari. It was suggested if there were complications that were life threatening or compromised their quality of life. A headache, no matter how bad, would not have been a just cause for him to do the surgery, especially on an adult.  He did not take this decision lightly, I liked that. In Kaylee’s case the one syrinx was at C6 in her spine and the second larger one was T5 to T9 with a skinny syrinx connecting the two. 

Here’s a visual:

http://www.google.com/imgres?imgurl=http://www.align-your-spine.com/images/spine_layout.gif&imgrefurl=http://www.align-your-spine.com/chart.htm&h=887&w=900&sz=108&tbnid=qmmoBZgCGg6BYM:&tbnh=94&tbnw=95&zoom=1&usg=__nv-7JVPo5f7Svrk6jx2drDXvZhk=&docid=qvHueljjBJ8Z9M&sa=X&ei=VGkzUuqLI4W64APk44HACg&ved=0CF8Q9QEwEA&dur=1118

So look at every part of the spine. From C6-T9 there was pressure, a lot of pressure because it was a bulging one in the Thoracic region. So look at all of the parts of her body that had pressure on them and were affected. That makes me sad.

There were different ways you could look at the Institute performing all of those surgeries. They see more patients because people from all over came to them with their name drawing a lot of people. They saw more adults, I mean there are many reasons I am sure but I chose to see it as they did surgery for the sake of doing it if it meant good research. According to them Kay was the first four year old they saw with all of this. Was that true? I can’t imagine why they would lie? But I do know if it were true, that would make for some good research.  Besides the point that the people I knew and met on message boards that they operated on still had no relief and some would say they were worse! Even one horror story would’ve been enough to turn me away from putting my child under the knife for something that no one had ever heard of before!! If not for Syringomyelia, that I knew existed from Superman, we would not have done the surgery. I would’ve said don’t jump; rest up and promoted yoga. I’m not sure if these doctors are still there (Unfortunately it was another four year old years later that they made the news for). The doctors were involved in a pretty bad lawsuit (this didn’t surprise us) but you can Google that, I don’t need to say it. From what I hear, it is now run by an awesome neurosurgeon and I would probably go for a visit just for research purposes of course. I was actually going to go to this guy in Cleveland when he was there. Again these were my opinions and experiences but there are so many that say different. I feel terrible saying anything negative but I think it’s important for me to proceed. Anyway…..

Anyway, this doctor at NYU agrees, she needs surgery  (I keep saying this doctor because I respect his privacy and who knows if he would appreciate my blog? But if you need him, I will be glad to give you the info just PM me). This was not what we want to hear and I just lose it. I let it all out right there, months building up. I’m crying so much that I cannot breathe and I cannot see and I cannot think straight. The doctor is trying to calm me down and Chris just looks numb but I just start babbling and crying on how are we supposed to decide this? We are taking her quality of life away? Because of headaches?? She will never have a normal life again, oh I just went on and on…..I will never forget the next moments because they were the best words I’ve ever heard. “Are you done?” I was, and I was ready for it.

He says, “What the hell are you talking about?”

I explain what we were told about the surgery and all that it entailed. He shook his head and said “2 ½-3cm in diameter, piece of skull removed from C1 (just first notch of cervical spine) and he recommended a shunt but he left that up to us (we did not go with a shunt) , out of the hospital in less than a week and when he’s done with her she can sky dive if she chooses (though he recommended no one does that for leisure lol). Go buy her a bike with a helmet, put her on skates. Her risks will be the same as any other child.  No she will not be able to play contact sports and a few other restrictions but compared to what it was going to be WHERE DO WE SIGN!! It didn’t hurt that it was NYU and that it was 100% covered by our insurance.

It was a snowy day and the sun had just gone down. He was talking to Chris (probably making fun of me) and I looked out the window. I love New York City in the winter. I saw this cardboard snowman that I also had in my living-room that my dear friend had bought me and I loved it. Just seeing it there in his office, which was cozy and warm with stuffed animals and pictures of his family (not sterile and white and cold like every other doctors office we went to), that moment felt like home. It was the first time that I saw this relief come over us. That we cracked a smile and sat more relaxed. That’s when we booked her surgery and went forward with NYU. We saw him in March, ten months after this whole ordeal had begun. He said that he would wait for her to get out of preschool so she could finish her year off. We had to promise to keep her away from any germ ridden kiddie parties, no trampolines, bikes or anything else. We had to treat her like she lived in a bubble in order to keep her fit for surgery. We promised and prepared for what was ahead.....

Kaylees Chiari Malformation I (Part one)

 Please be advised that I am not a doctor, I am a Mommy. This is Kaylees story and our experiences that I would like to share in hopes of maybe someday helping another Mommy ;)

What is Chiari Malformation I?

http://www.ninds.nih.gov/disorders/chiari/detail_chiari.htm#240483087

I like this definition and it’s simple to understand without having a neurology degree.

Chiari malformations (CMs) are structural defects in the cerebellum, the part of the brain that controls balance. Normally the cerebellum and parts of the brain stem sit in an indented space at the lower rear of the skull, above the foramen magnum (a funnel-like opening to the spinal canal). When part of the cerebellum is located below the foramen magnum, it is called a Chiari malformation.

CMs may develop when the bony space is smaller than normal, causing the cerebellum and brain stem to be pushed downward into the foramen magnum and into the upper spinal canal. The resulting pressure on the cerebellum and brain stem may affect functions controlled by these areas and block the flow of cerebrospinal fluid (CSF)— the clear liquid that surrounds and cushions the brain and spinal cord—to and from the brain.

As far as the causes, there are many opinions however I won’t say the cause because it’s just that a matter of opinion. I can tell you this. I never did drugs in my life leading up to the moment of Kaylees birth or thereafter. Her father was not a drug user. Drug users were actually never allowed near my children, but that’s another story.  I didn’t take Motrin for a headache, I drank tea with honey or I lay in a dark room. Yes I had an epidural at child birth but that was the extent of my drug taking. Not even marijuana and I mean that, never. I did not drink alcohol during pregnancy with Kaylee. I never was one to drink a lot anyway when I wasn’t pregnant but for the occasional game night we had or wedding, party or holiday. So I guess I’d be what they call a “social drinker” but I didn’t drink around my kids and so it limited my alcohol use lol. In the beginning of my pregnancy I was at risk of miscarrying due to low progesterone. I took progesterone suppositories and these were said to be the reason why I was able to continue with my pregnancy. I have my own opinions about that as well but yes one of the doctors tried to link the progesterone to the Chiari. Who knows? Will we ever? Who cares what caused it? It was here to stay. So yes, there are some sites that say it 's caused by genetic mutations (lovely) and others say that it "can be" caused by drug/alcohol abuse and that’s hurtful to read for Mom’s like me. It takes away the fact that there are many cases that were not caused by such things and weakens awareness. That being said, it is the last time I will defend that.

Anyway, here's her story:

From the day that I brought Kaylee home I was concerned about her. If I even expressed concern I was accused of “comparing her to the other kids”, which was never the case. I have always seen my children as their own separate person, with separate strengths and weaknesses (Brian is my favorite, did I say that out loud lol?). But that’s the thing, my children are each individually my favorite people on this earth, for different reasons. They each have this beautiful light in them that shines brightly, they are so much fun, so very smart about things way beyond their years. But Kaylee, she had this sweetness, this softness to her the day that she was born. I don’t know why but the first moment that I had her alone, I held her cradled in my hands, she was so tiny, and the room was dimly lit. I looked at her and my first thought was “she’s looks like a wounded bird”. I don’t know why, I’m a little wacky, but I felt that.

 She was born with a dislocated hip which luckily did not need surgery, her first few weeks were spent at Orthopedic doctors in the city and X-rays but it just healed it self with the help of double diapers for a while. They wrote it off as I had a lot of amniotic fluid and she floated around so much at the end and dislocated it. Funny enough, Meghan was born with the same thing; all my kids are double jointed. I am double jointed and spent a lot of my first year in a cast on my leg and hip issues happen to run in the family. They saw no correlation.  I would later find out that Kay also has Ehlers Danlos Syndrome. We will talk about that in that awareness month lol but more and more I am reading about links to EDS and Chiari which 10 years ago the doctors refused to link it.  In the months that followed her birth my main concerns were that she only woke up to eat and then she would fall back asleep.  She was a very slow eater.  One hour feedings were not uncommon.  I would constantly have to undress her just to make her too uncomfortable to sleep.  She never cried. Never.

At times her skin would appear to be the color blue.  Many visits to the doctor were made for this reason.  There was always some explanation that would settle my mind for a time.

My instincts said that something wasn’t right. She was very weak and listless as a baby.  Blood test were always done and always fine.

All of her milestones were later than normal, she never crawled but instead scooted like a caterpillar dragging her body. Everything she did looked painful and slow. She didn’t walk until 14 months old. Her lower lip was always drooping and she drooled a lot! Everything other than physical was on target or above, she was very smart.

I must stress that while my other children had reoccurring ear infections until they were five, as well as huge tonsils, strep throat, quite often it seemed they were always on some antibiotic.  However, Kaylee is my healthiest child.  I would have to say that maybe she has been on antibiotics 6 times in her life. About five were due to staph infections on her skin (that’s another story LOL). She has always had a great immune system. 

By her second year, I was fine with it all and I had no worries except that she would choke on everything.  I’d have to dice everything up that she ate.  I just shrugged it off as she shoves it all in at once and of course she’s going to choke. But when she spoke it was very soft, if she coughed it was very light and unproductive if she was sick. All of her movements were gentle and deliberate. We joked that she always sounded like Marge Simpson or like a smoker for 30 years lol. She had a very raspy voice. Raspy voices aren’t a normal thing as cute as they are.

Not until she was 4 years old did I truly feel that something is wrong.  She got tired so easily and yet never seemed to put enough effort into anything that she should be so tired.  She was slow with walking, running, she couldn’t push the wheels on any bicycle. Then she had a horrible virus in May of that year.  She had diarrhea for seven days, uncontrollable.  Nothing was stopping it, and all she did was sleep.  I treated it as the doctor said and when I took her to the emergency room they just dismissed it as a horrible virus and gave me instructions on how to treat it.  I didn’t understand how this child who never caught anything to date from her sister and brother, could have such a bad virus.  We were a family of five and not one other person in our house got any sign of any virus.  All of a sudden Kaylee would have these episodes where she would have a glassy eye look, almost like she was daydreaming and this was always followed by a headache that would make her very dizzy (she’d say her head was tickly)  and she would lay down wherever we were and fall asleep. At a wedding she would put two chairs together and go to sleep during the YMCA. At any party, she’d be on the stairs asleep. If we went anywhere, she’d cry if she had to walk so I would put her in a stroller, where she’d sleep. I heard “she’s just lazy”, “she’s just the baby”. But I knew, this wasn’t normal and I did not baby her or enable this behavior.  This set my wheels in motion.

When she went for her well visit I expressed my concerns to my pediatrician who knew my children like the back of his hand.  The headaches were the biggest concern because what four year old has headaches like that? So painful that you can visibly see how bad they are? When he noticed that Kaylee had poor muscle tone and I spoke of my other concerns he sent me to have tests done. I gave him a list of all of my concerns since birth and I said humor me, check her for anything that fits. He was awesome and he did just that without question!

First we did the SWEAT test. This was a scary test for us and the results seemed to take the longest. She showed signs of cystic fibrosis and as much as I told myself not to google it, I couldn’t stop. That came back fine.  All of her blood was fine however; they suggested that we give her vitamins with IRON.  She went for the SLEEP EEG and that came back fine.  She was evaluated by TIPSE, who evaluates children’s milestones for the board of education in NY, in all areas.  They did Psychological, Educational, Occupational, Physical, as well as Speech.  She was one year ahead in all areas with exception of parts of the physical and occupational where they found her to be nine months behind.  The neurologists suggested that Kaylee have Occupational and Physical therapy as soon as possible and TIPSE didn’t feel that she was behind enough to give it to her.  It’s not like I had a name of an illness that they can compare it to or understand why she needed this, mainly for preventive reasons. The neurologist then did an OPEN MRI on Kaylee and called us when he found the Chiari Malformation. We have never heard of this in our life.  The neurologist didn’t say much more than the basics (I am not fond of this doctor but I will not go into detail on how terrible his bedside manner was or how he thought it’d be perfectly fine to leave on an answering machine message, after six months of testing and so many questions, that our daughter had brain damage NO BIG DEAL, many people live their lives with little or no complications, seriously???) and that I shouldn’t research it on the internet because it would just look like some big bad ugly thing and I would get nervous.  He’d see her in six months and do more tests depending on her “symptoms”. To say I was a raging lunatic at 9:00pm that Friday night, is an understatement. I called my doctor immediately; he was truly my best friend that year.

That did not settle right with my pediatrician or myself and my doctor tried to calm me down by putting what Chiari was in the simplest terms:

Kaylee was born with an extra piece of skull. That extra piece is causing her brain and her cerebellum to sag downward into her spine. This is causing crowding and the spinal fluid isn’t passing smoothly which causes a buildup of fluid in her brain and the pressure causes bad headaches. There are many complications that can arise from having Chiari and while this doctor said that Kay wasn’t showing any “symptoms” it just concerned me that what she had was something else that came from the Chiari. Let’s back track for a second here though.

Some of Kay symptoms:

·       Headaches

·       Poor muscle tone

·       Blue lines in her skin

·       Choking

·       Late physical milestones

·       Never cried

·       Soft spoken, gentle but raspy voice

Here are the symptoms that the Mayo clinic lists:

Chiari malformation type I

Headaches, often severe, are the classic symptom of Chiari malformation. They generally occur after sudden coughing, sneezing or straining. People with Chiari malformation type I can also experience:

·       Neck pain

·       Unsteady gait (problems with balance)

·       Poor hand coordination (fine motor skills)

·       Numbness and tingling of the hands and feet

·       Dizziness

·       Difficulty swallowing, sometimes accompanied by gagging, choking and vomiting

·       Vision problems (blurred or double vision)

·       Speech problems, such as hoarseness

I know. It was funny to me too. It just showed me he wasn’t “listening”. Which he couldn’t possibly be listening  being so full of himself and his “I’m the doctor here, I’m the one with the medical degree”. That was a direct quote. Oh don’t even get me started!!! Breathe Suzanne, breathe. We didn’t see eye to eye, we moved on.

We didn’t wait six months, she went for further testing. Because when you are diagnosed with Chiari, that’s what you should do. Only an MRI is going to detect it and only a full MRI of your cervical, thoracic and lumbar spine can rule out Syringomyelia and other conditions that can arise from having Chiari. This is where it gets tricky. I hear from a friend that happens to have Chiari that she has these doctors on Long Island at “the Chiari Institute” that are amazing. I immediately tell my doctor about it, if you want pizza you don’t go to McDonalds right? He’s skeptical. He wants me to go to NYU to his doctor, a top pediatric neurosurgeon, but I insist I want to try this institute. It is not covered by my insurance at the time.

We pay a lot of money ($800.00) out of our pocket for our visit. That wasn’t including all of the tests done, that was just for a consultation with each specialist. The visit is a full day of testing and talking and learning. That visit put us on the right path, we learned more in one day than we had known before, we had answers that eased our minds and terrified us all at once. Every piece of the puzzle fit. She was now diagnosed with Ehlers Danlos syndrome type 3 hypermobility (a bones and joint disease) and Syringomyelia (great another thing I have to research!!) but this was a biggie. This was caused from the crowding in her brain blocking the passageway for the spinal fluid to flow, she had a “slow drip” and it built up causing cyst-like fluid balls (laments terms). One was huge, looked like it was a water balloon about to burst, pushing her spine out way too far that was painful to look at on the MRI. Every symptom she had had been from the Chiari, Syringomyelia or EDS which these doctors absolutely linked together. Without even looking at Kaylee he said “I bet she has a light birthmark on her belly”. Tears just filled my eyes, she had. Just this light little blob right there on her belly but it all fit.  He said that many Chiarians had it. She had a group, they had a name. I felt on top of the world and strong, ready for the battle ahead. They suggested surgery immediately and pleaded with us to not considering putting it off at all. I explained we would get a second opinion and then decide and he was teary eyed and even said he had a child of his own and if this were his child he wouldn’t wait. It just wasn’t settling right with me, too much info and a huge decision like this should not be made quickly. Thank God I have the faith in God that I do. It was what led me because everything was a big blur!!

When they explained that she would be the first four year old they would do this surgery on, it didn’t settle with us right. When they explained how invasive it was, “approximately a 6-8 inch long incision and a good portion of her skull removed to make room which may require a neck brace for up to a year” what the recovery time was “weeks in the hospital, months of therapy to follow” the thousands and thousands of dollars not covered by our insurance was (not that I cared about money but let’s face it, why wouldn’t I go to NYU and see what they said first?). She would never ride a bike because she’d be too unstable with the amount of skull they’d have to remove; she could never ride a roller coaster or anything that could possibly juggle her brain”. This was too unreal for me to absorb and I will never forget the ride home. We didn’t speak, we just cried the whole hour, thinking the other didn’t notice......