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!