8/14/2009

EEG results and the Geneticsit



I have good news and bad news. I think I'll start with the good news. I like good news, and lately I feel like it's rare. So the good news is that we got the results for Carson's EEG from Wednesday and it is NORMAL. Aaaahhhh, normal. What does this mean? It means the medicine is working. It means that he still has seizures, but not every single time he goes to sleep and wakes up. It means we are not medicating him and getting no results. It means there is a point to all of this. It means that he has seizures sometimes, but not always. Not always. It also means I totally suck at mind reading because I thought for sure that tech saw something on the EEG. But she didn't. And I am so totally okay with being the world's worst mind reader if it means that his test results are normal. Normal normal normal...aaahhhhhhhhh.
Today we went to the geneticist. She didn't actually give us bad news, per say, more like no news...And a confirmation of news we all ready knew which is that something (we don't know what yet) is wrong with Snoopy. She is going to run blood tests, bunches of them. The results for those will be back in a month to six weeks. Also she is sending us to get an EKG (A heart test) just to make sure everything is okay there. She is also sending us to a developmental pediatrician to assess where Carson is developmentally and to check for possible Autism. After she talked to us for a while she asked if we had any questions. I looked at her and said, "What I really want to know is, when you walked into this room and looked at my baby, did you know immediately that something was wrong?" She said "Yes." There are no words for that. All I want to hear is "He's fine." And I never ever get to hear that. I watch Matt's face as the doctors talk. I watch the color drain from his cheeks, I watch his hands wring, and his jaw clench. I watch his heart break. And I wonder if he is reflecting me, because he looks exactly like I feel.
She also said that it is possible they could run all of these tests and find nothing, all that means is that technology has not found all the genes yet. It means that he has a defect that has not yet been documented. But he does have a defect. Period. What does this mean for future children of mine and Matt's? They don't know yet, and they won't until they find out what's going on with Carson. Me? I don't think I would ever take a chance like this again. Your heart can only get broken so many times before it no longer mends, and I just don't know how many more breaks I have left in me.





7/15/2009

                                                                                                                        

                                                                                                    Latest Neurologist Appointment

 

Yesterday Carson had a neurologist appointment. Not much changed. They said that his platelets, all though still higher than normal have lowered, and they are not too worried about it at this time. They said that he still has low muscle tone, but since it does not seem to be effecting his development there is nothing to do about it at this point. They said that he should not be having any seizures on the Klonopin, so the are going to add an additional anti-seizure drug called Topamax to his daily medicine intake. The primary side effects of Topamax are that kids have trouble sweating and (get this) loss of appetite. So I am not very concerned about the side effects seeing as how on an average day Carson eats more than I do! They said that the Menkes results are not back yet, and it could still be next week before we get them. They did not say he was no longer sick. They did not say he was fine. They did not say we had nothing to worry about so I am of course not as happy as I could be. But all in all I'd say it was a success. Despite all odds, other than speech, he is still developmentally on par. And speech is something they don't really intervene with until about 18 months. So good for you Snoopy, you little rascal!


 

                                                                                                                  

 

                                                                                                                                          How It Started

 

I am going to try to be concise and make this all make sense. But honestly, months later, I still have a hard time connecting the dots. None of it makes any sense to me at all.

The first time Carson had a seizure was April 25th, 2009. We were at Matt's parents having dinner and playing with the kids. Carson had been sleepy and winy most of the day, but we chalked it up to teeth and babyness. Matt and his dad and the kids were playing in the back yard, I was inside getting something to drink, and Matt's mom had Snoopy on the front porch. I heard her coming around the side of the house to the back yard and she was yelling saying, "Carson's not breathing." The first time she said it, I heard her but I could not move. I just stood staring out the back door as Matt took a limp Carson from his mom. It felt like hours before I could get my feet to move. I heard someone screaming and realized it was me. Matt came inside and took Carson's shirt off and started giving him mouth to mouth. His lips and finger nails were blueish and his eyes were rolling back in his head. Someone handed me a phone. I called 911. Neighbors came running into the house. Carson was breathing again, but not responding when we spoke to him. I got my purse, and the insurance cards, and Annelise's baby doll. I took Carson from Matt and held him. His body sagged against me. I was holding Annelise's hand. The ambulance and fire truck arrived. Carson was doing a little better. He was more responsive, but still not at all himself. We went to Children's Health Care of Atlanta, me and Snoopy in the ambulance, Matt and Annelise and his parents following in our car. They got us into a room, and the nurses asked us some questions and took Carson's vitals. My parents came. The doctor came in and asked if Matt or I had ever had febrile seizures (seizures caused by a very high fever.) We said yes that Matt had, but that Carson hadn't been running a fever. In the end, the doctor decided that it was a febrile seizure and that maybe Carson's temperature had risen really fast and we just didn't realize it. In that moment, I knew something was wrong, very wrong. I knew that Carson had not had a fever, I knew this was something else. But. But as a first time parent you question your instincts, you nod and agree with the doctor because you want it to be no big deal. That was the last time I ignored my gut. I never will again.



That night we got home and all slept in one bed. The next morning Carson was still very lethargic, but everyone I talked to said that seizures wipe you out, and that he was just tired from the events of the night before. Okay. That made sense, until the next day. On Sunday Matt and I and Annelise and Carson went to run some errands. I don't remember the name of the store that we were going to, or how warm it was outside, or what time of day it was, but I will never forget the look in Snoopy's eyes when I went to get him out of the car. Vacant. Totally vacant. I told Matt right then that we were taking him to the pediatrician first thing Monday morning and we were not leaving there until they get us an appointment for the neurologist.



The next day we went to the pediatrician and they said that he really seemed fine. I said I didn't think so. They said his blood tests looked good. I said I didn't care, something was wrong. We left there with a 4:00 appointment to see a neurologist the following day. I remember the strangest things about that day and the following days. I remember that after we left the pediatrician we ate at Lenny's Subs. I got a ham and Swiss. The guy behind the counter gave Carson some ham. I remember Matt and I talking about the fact that they were probably going to laugh us out of the neurologist's office for being super overreacting first time parents.

The next day I took Annelise to my mom's and met Matt at the neurologist's Alpharetta office. We went into the office and filled out paperwork and waited. The nurse called us back, she weighed Carson and put us into a room. Almost the moment she shut the door Carson started doing something. Jerking. Shaking. Not responding. Vacancy. Then he would look at me and connect for a moment, then it would happen again. Over and over and over again. Matt ran into the hall and yelled for help. The doctor came in and stared at Carson. He told us to remove Snoopy's clothes. "But something's wrong! He's not okay! Help us!" I said. The doctor was detached. Matt helped me remove Carson's clothes as he continued to seize. We were both shaking, holding back tears. Carson was starting to whimper. The doctor examined him for a minute and then told us that something serious was going on. He said that he could not and would not answer any questions but that we needed to take Carson to Children's heath care immediately, he was going to be admitted. Matt and I were crying. We tried to ask questions. The doctor was unfeeling. He would not answer anything. He handed us a paper that said "admit" and told us to take it with us. We got to the car some how. I crawled into the back with Carson. We called our parents. I called Emily, who called Aunt Leslie. We stopped on the way and bought a phone charger. Now every time we drive by the store where we bought it I feel sick. It's strange, but for some reason I associate that store with the panic, the fear.

We went to Children's. We were admitted. Aunt Leslie was there. We told her about the doctor, about how he was mean and he wouldn't listen and how we were scared. She told us we needed a different doctor if we didn't feel that we had a good relationship with this one. Somehow between her, and Emily, and Matt, we switched doctors to the doctor we use now. A doctor I trust, thank God, because my whole heart is in his hands. Well, his and God's.

That night, in the hospital, Carson sat up in his bed and had another long awful seizure. They gave him medicine that made it stop. I remember laying on that couch/bed with Matt that was the width of a bench seat in a car. We watched Carson sleep and listened to each other's hearts beat and did not speak because really, there was nothing to say.

The next day they did an EEG. The tech was so sweet and talkative at first but then she saw something on the EEG. She didn't say so, but I could see it in her eyes. She left and came back with another tech. He said that they would send the information to the doctor right away. Matt reached over and held my hand. I remember his fingers were cold. I remember I felt small.

A lady that worked for our neurologist's office came in. She said that they thought Carson might have Infantile spams. I had no idea what that meant so I started asking her a million questions. She said that they were going to sedate Carson and do an MRI and that she would have the doctor come in and talk to us. I asked Matt to go to the resource center at the hospital and get some information on infantile spams. He came back just as they were taking us down for Carson to be sedated for his MRI. Signing papers that allow someone to sedate your nine month old baby and then holding him as they do so is a nearly imposable thing to do. But then again I have done a lot of things in the last twelve weeks that I never thought I could.

While they were doing the MRI I asked Matt to show me the information he had found on IS. I remember him hesitating to give it to me. I remember kind of snatching the paper from him. I remember reading the words developmentally delayed and retarded. I remember seeing a number that said 70% of kids who have IS have long term issues. I laughed. Seriously. I told Matt to throw that junk away. There was no way Carson had that. I remember the voice in my head that said "Yes, he does." I remember feeling my heart move out of my chest and into my throat. It's still there.

Later that evening the neurologist came in and said that Carson did (does) have IS. He's sick. And he and us have a long road ahead. We get the Menkes test results this week. Carson turns one this week. I pray that it isn't Menkes. I don't think it is. He doesn't fit the profile of those kids. But something is wrong. We are almost done with the ACTH shots and Carson is still having seizures. They are under control, but they are there.

Sometimes I wish I could go back. Back to the day before, back to Lenny's and my ham and Swiss, and not knowing. I want all these test results back SO badly. I want to know SO BADLY what is wrong with Carson, what is causing these seizures, and mostly, what is the prognosis? I love Lenny's, but I can't eat there anymore because I ate there the day before the worst day of my life. It's like every day before the diagnosis is one lifetime and every day after is another lifetime. Nothing is the same. That's the thing about knowing. Once you know, you can't un-know.