Connor has started his therapies. I was so worried that we wouldn't get them started before he went back into CHOP. After every admission he has gone from a loving easy going little boy to one who is scared of everyone but his immediate family. I am hoping that having him get used to his therapists before the hospital stay he will not have such a hard time accepting them in his home after. I knew that if we waited to start this till after we got home things were going to be much harder. He seems to really love his therapists and has connected with them very quickly.
It looks like he is going in to CHOP on Tuesday 7/1/08 for his IVIG therapy. We were all hoping it would get started earlier but 6 days after Connor's spinal tap he woke up from a nap with a 103.8 fever and it only climbed to 104.2 in the pediatricians office. So, things are a little more behind than we hoped at this point because he had to be healthy before they could go ahead with the IVIG therapy. We still don't know if he is getting the 2 day or the 5 day infusion. From what I read the initial treatment should be 5 days and any booster treatments should be 2 day. But, who knows what they are planning. If we are in for 5 days then Connor, Joe & I will be in the hospital for the 4th of July. What a bummer!
In the beginning of all of this I had people mention having fund raisers to help us with all of this. I wasn't ready to say go ahead yet. I don't know if it was because I kept hoping that everything would end at any time and Connor would be all better. Reality and the bills have set in! Now that schools out (Julia's teacher offered to do some fund raisers) I have decided that we have to do something. I just don't know how to do this, when I can possibly find the time to do this. Is it OK for a person to throw a fund raiser for themselves? That's something to think about. Anyone with any ideas on how to do this or what to do please, please place a comment. I really need help here.
Keep Connor in your prayers while he goes through this. Pray he doesn't have any major side effects like anaphylactic shock or meningitis. And let's not forget to pray that this will work!! Please God something has to give here. Let this work!!!
Friday, June 27, 2008
Tuesday, June 17, 2008
UPDATE 6/17
Connor had his MRI & spinal tap on 6/11. Nothing has changed. They still see the foci's on the MRI. They haven't gotten worse but they haven't gotten any better either. The results that are back from his spinal tap have not given them any clues.
His neurologist called me yesterday and she wants to put Connor into the hospital again and start IVIG therapy. No one is sure if this will help or not but she wants to do something. She has decided to go with the IVIG therapy over the steroids because his spinal fluid didn't show any protein or white blood cell clusters to point her in that direction. She told me that there are some known risks. They are anaphylactic shock (it is a blood product), meningitis, encephalitis & headaches. She told us to research it on our own, talk it over and let her know our decision. If we decide to go ahead with it she will get things set up for Connor to go into the hospital.
We looked it up last night. From what we read the chance of Connor having any of these side effects are much less because of his age. I think that he has a much higher chance of having a complication from the steroids than he does with this. The only thing we are worried about is that the FDA has only approved this for 6 different conditions and from what I read Connor's isn't it. Which means that insurance may not cover it. IVIG is being used for a bunch of different conditions with some very promising results. It has been used for MS, fibromyalgia, chronic fatigue and a whole bunch of other things but FDA only approved it for a whopping 6 conditions. The cost is VERY expensive. For children it is around $3,000/infusion. For adults it is about $10,000/infusion. We are not sure yet if his dr is going to put him on a 2 day or 5 day infusion. If insurance does not cover this there is no way we can go ahead with it. I am still trying to work all that out and figure out what we are going to do. I was thinking of letting them go ahead with it and paying $5/month. The only thing to do is just wait and see what happens but I did call her to tell her we want to try it. There are risks but the risks of not doing anything and letting Connor go on this way and not have a chance at a normal life is a risk I don't want to take.
His neurologist called me yesterday and she wants to put Connor into the hospital again and start IVIG therapy. No one is sure if this will help or not but she wants to do something. She has decided to go with the IVIG therapy over the steroids because his spinal fluid didn't show any protein or white blood cell clusters to point her in that direction. She told me that there are some known risks. They are anaphylactic shock (it is a blood product), meningitis, encephalitis & headaches. She told us to research it on our own, talk it over and let her know our decision. If we decide to go ahead with it she will get things set up for Connor to go into the hospital.
We looked it up last night. From what we read the chance of Connor having any of these side effects are much less because of his age. I think that he has a much higher chance of having a complication from the steroids than he does with this. The only thing we are worried about is that the FDA has only approved this for 6 different conditions and from what I read Connor's isn't it. Which means that insurance may not cover it. IVIG is being used for a bunch of different conditions with some very promising results. It has been used for MS, fibromyalgia, chronic fatigue and a whole bunch of other things but FDA only approved it for a whopping 6 conditions. The cost is VERY expensive. For children it is around $3,000/infusion. For adults it is about $10,000/infusion. We are not sure yet if his dr is going to put him on a 2 day or 5 day infusion. If insurance does not cover this there is no way we can go ahead with it. I am still trying to work all that out and figure out what we are going to do. I was thinking of letting them go ahead with it and paying $5/month. The only thing to do is just wait and see what happens but I did call her to tell her we want to try it. There are risks but the risks of not doing anything and letting Connor go on this way and not have a chance at a normal life is a risk I don't want to take.
Tuesday, June 3, 2008
6/3 MRI & Spinal Tap
Connor is going into CHOP for another MRI & spinal tap on Wednesday 6/11. At this point it is a same day type thing but to be safe we are packing just in case they end up admitting him. I know that the metabolic team wanted specific tests done with the MRI & the spinal so our dr is getting in touch with them so that they can make sure all of that is done at the same time. We have to leave here around 7am. He needs to be there by 9am with the procedure to start at 10:30 am. They are figuring that he will be there at least 4 hours from the time we get to the sedation unit till we get to leave but that was said before they realized that he was also having a spinal tap at the same time. So, who knows how long we will be there.
Our pediatrician is trying to get in touch with the ataxia dr because she wants to understand what he thinks is going on and why he is doing the surgery for the biopsies (still don't have a date for that one yet). We are getting the hearing test set up at someplace around here. Thank God there is one thing we can do without driving 2hrs to Philly. Tuesday the 10th Connor gets his helmet too. What a fun and exciting week this is gonna turn out to be!!
Please keep Connor in your prayers. Pray that the dr's will finally see something and figure out once and for all what is going on with him so we can start the right treatment instead of just watching him fall farther and farther behind.
Friday, May 30, 2008
5/30
There has been alot of things going on this week. First Connor's neuro dr called and wanted to know how he was doing. I told her the same. She said we have to start thinking about iv steroid treatment. She said that if he was getting worse then the decision to go ahead with it would be easy. But he's not getting worse he is staying the same. The steroid treatments are not without risks. The risks on worse case scenario could be death. They are in the process now of setting up another MRI & spinal tap. We will get the results of that and then make a decision. If it is cerebellitis he is not getting better on his own. My only problem with this is that no one can tell me for sure that this is what he has. We have 3 dr's thinking he has 3 different things.
Connor's blood work is finally back. That only took 7 weeks. That Dr said that it didn't show any of the things that they were looking for. I am not quite sure what that means since he didn't say that all the tests came back negative. Just that it doesn't show what he was looking for. So, he wants to do the biopsies. I said yes. Because, if Connor has mitochondrial disease then we don't want him to have the steroids. This will be surgery and it will be under general anesthesia. They will be taking muscle and skin biopsies from a few different spots. This dr feels that the odds of something coming back positive from this is somewhere between 30-40%. The dr is trying to set things up for this now and will let me know when.
We got the report from the feed/swallow team. That one said Connor is being treated for paroxysmal leukodystrophy. Of course this diagnosis was new to me and I freaked out. Where did this one come from and why don't I know about it? I called the neuro dr right away and went to look it up while waiting for her to return my call. The Internet says that it is a myelin disorder where genetically he is either missing an enzyme to produce or metabolize myelin. The symptoms certainly sounded like Connor's. Our neuro dr doesn't know where this came from either. She had me call the feed team to see where they got this. Because like she said if someone diagnosed him with this she needs to know about it. So far no one has gotten in touch with me from there. Our neuro dr even e-mailed the director of the team and we still haven't heard anything. The ataxia dr said that he thinks they gave him that diagnosis in the strictest sense of the word (what ever that means) and he wouldn't say that Connor has this. At least right now.
We also had our meeting with early intervention this week. Connor is going to be getting Developmental intervention 2X/week, Physical therapy 1X/week, Speech therapist 1X/month (to follow things since the developmental intervention will work on this also) & Social worker 2X/month for now until things stabilize with him. They are calling it family support. I think they feel mommy is starting to come unglued. (they wouldn't be too far off the mark with that). Hopefully at least some of these services will begin to start in 2 weeks but no longer than a month. Connor also gets his helmet on 6/10. Our " GREAT" insurance won't cover this "type of device". They also suggested we get his hearing checked just to make sure that he is hearing all tones. There are times we have worried about his hearing because when you call him and try to get his attention he doesn't respond to you. He does hear music and loud noises. We just want to make sure that there isn't a problem there that is complicating things. I have a call in to his pediatrician about getting that done too.
On top of all of this Connor's left eye has started to cross at times and it seems a bit droopy. I did mention this to the ataxia dr and he said that it could mean that things could be getting worse. Now the rush is to find out what he has before things get worse and there is no coming back from it.
Connor's blood work is finally back. That only took 7 weeks. That Dr said that it didn't show any of the things that they were looking for. I am not quite sure what that means since he didn't say that all the tests came back negative. Just that it doesn't show what he was looking for. So, he wants to do the biopsies. I said yes. Because, if Connor has mitochondrial disease then we don't want him to have the steroids. This will be surgery and it will be under general anesthesia. They will be taking muscle and skin biopsies from a few different spots. This dr feels that the odds of something coming back positive from this is somewhere between 30-40%. The dr is trying to set things up for this now and will let me know when.
We got the report from the feed/swallow team. That one said Connor is being treated for paroxysmal leukodystrophy. Of course this diagnosis was new to me and I freaked out. Where did this one come from and why don't I know about it? I called the neuro dr right away and went to look it up while waiting for her to return my call. The Internet says that it is a myelin disorder where genetically he is either missing an enzyme to produce or metabolize myelin. The symptoms certainly sounded like Connor's. Our neuro dr doesn't know where this came from either. She had me call the feed team to see where they got this. Because like she said if someone diagnosed him with this she needs to know about it. So far no one has gotten in touch with me from there. Our neuro dr even e-mailed the director of the team and we still haven't heard anything. The ataxia dr said that he thinks they gave him that diagnosis in the strictest sense of the word (what ever that means) and he wouldn't say that Connor has this. At least right now.
We also had our meeting with early intervention this week. Connor is going to be getting Developmental intervention 2X/week, Physical therapy 1X/week, Speech therapist 1X/month (to follow things since the developmental intervention will work on this also) & Social worker 2X/month for now until things stabilize with him. They are calling it family support. I think they feel mommy is starting to come unglued. (they wouldn't be too far off the mark with that). Hopefully at least some of these services will begin to start in 2 weeks but no longer than a month. Connor also gets his helmet on 6/10. Our " GREAT" insurance won't cover this "type of device". They also suggested we get his hearing checked just to make sure that he is hearing all tones. There are times we have worried about his hearing because when you call him and try to get his attention he doesn't respond to you. He does hear music and loud noises. We just want to make sure that there isn't a problem there that is complicating things. I have a call in to his pediatrician about getting that done too.
On top of all of this Connor's left eye has started to cross at times and it seems a bit droopy. I did mention this to the ataxia dr and he said that it could mean that things could be getting worse. Now the rush is to find out what he has before things get worse and there is no coming back from it.
Wednesday, May 14, 2008
Update 5/14
I didn't realize how long it has been since I posted here. Sorry for that. It has been crazy. Connor had been sick with a real bad cold for over a week that required trips to the dr with a very cranky child. There isn't a whole lot new. We still don't have the results of the blood tests for the mitochondrial disease. I called the dr today because it has been over 5 weeks now. They have not called me back. Everything seems to be at a stand still.
We did have the evaluation with the early intervention team. Connor qualifies. I knew he was behind developmentally. You would have to be blind to not see that but I didn't realize how far behind. Once they gave me the numbers I cried. Here is how he tested (remember he is 19 months old when you see these numbers) :
Cognitive ( learning, play skills, problem solving) 6 - 13 months
Gross Motor (crawling, walking, moving) 12 months
Fine Motor (eye/hand coordination) 10 months
Communication (talking & understanding language) 3m responsive, 11m expressive
Social/Emotional (interactions with others & toys) 5-8 months
Self Help/ Adaptive (feeding, dressing, toileting) 8 months
As you can see he has had significant regression. We are scheduled for a eval meeting for 5/23 where we will set up a plan and start the therapy. The sooner the better as far as I am concerned. I feel it should have been started months ago. They also want him to wear a helmet for protection whenever he is on the floor walking. We are scheduled for a fitting on 5/20 for that. I have gotten some attitudes about that already from some people. How could I do that to my son? It is wrong of me to do this. I feel that whatever will keep him safe is the right thing to do so we are going ahead with it. He gets hurt enough now. We don't need him damaging his head and making things 100 times worse. Today he fell in his bed and cut his mouth open. He falls all the time and we are fighting to keep him safe till they figure things out.
Hopefully we will have some news on the blood tests soon. I plan on harassing them until they call me back. They will be getting phone calls from me on a daily basis until they get so sick of me that they will finally return my calls. I will post again as soon as something new develops.
Thursday, April 24, 2008
4/24 Update
Over the last 2 weeks or so things have been hectic. This is the first time I have had a chance to post. Last week we had 2 appointments. One was in Princeton at the neurologists office. We didn't seem to get anywhere with that one. If fact we left there feeling like we accomplished nothing. Our neuro dr seems to want to believe that this could still be a post viral cerebellitis. Even though it is way past time for this to have cleared up or at least started to. Granted, I would much prefer to believe that he has cerebellitis because it is much better than the mitochondrial disease theory. So, at this point she has decided to just wait. She knows that the metabolic team wants a spinal tap for some tests but she won't do it until they call her personally. She doesn't want it to be on her. They have to order it. She told us to make an appointment in July and she will see us then. I am supposed to keep a log of his staring spells in case he is having petite Mal seizures and call her. That's it. I asked her what she thought of the ataxia dr's idea of mitochondrial disease and she just answered "I don't know". On Friday last week we had to go to CHOP for the speech/swallow eval. Another waste of time in my mind. They were giving us ideas on how to switch him to more adult food (not a concern of mine at all) and that it wasn't too dangerous for him to eat at this point. Of course he didn't choke for them at all so they never got to see what happens on a weekly basis. I was informed that they think it has to do with what ever is wrong with him (really! who would have guessed?!). Then they brought in a psychologist to tell us that she doesn't think he is faking the choking to get out of eating (where the hell did I ever say that? We could have told them that and not cost the ins co over $200!)
Tuesday we went for our follow up at the pediatrician's office. That was just to catch her up and make sure he is at least not getting worse. She wants us to get some blood work next time we go to CHOP. The metabolic team faxed her the script of stuff they want done. We were supposed to get it done when we went to the ataxia clinic but they maxed out the amount of blood that they could take from him in one day. We don't have to see her again now for 1 month unless he gets worse or we need her. I have to call her as soon as I get the results from the ataxia dr.
I started the process of getting therapy for Connor in the house. The dr's want him to get physical, occupational & speech. Now I am just waiting for them to come out to the house to evaluate him. To qualify for this program he needs to be 35% deficient in one area or 25% deficient in 2 or more areas. Our dr's don't seem to think we will have any problem qualifying for this. Financially we qualify for free services Thank God we won't have to pay a per hour co pay. So, now we wait. After the eval they will come back and tell us if he qualifies and then set up goals with us and from there get the therapists out here. If he doesn't qualify then they will direct us where to go to get him the help he needs. Most likely if he doesn't qualify then he won't get the therapy at home and it won't be free. I don't see how he can't meet there idea of qualifying. Not with how behind he is now.
We are waiting for the mitochondrial results now and everything seems to be on hold with that. As soon as I hear anything I will post to fill everyone else in. Keep the prayers coming for Connor please.
Thursday, April 10, 2008
EMG & Ataxia clinic 4/8
Tuesday was a real rough day. It has taken me this long to get myself together enough to write this. Connor got his EMG @ 9. That was hard on him and hard on us to watch him go through it. That test came out negative. We went straight to the ataxia clinic just like I was told to do. No one ever called me back when I tried straightening out the 3:15 appointment. I decided that I was going to go ahead just like I never knew about the 3:15 time. Let them try to blow me off to my face. Joe was a little concerned that I was going to end up arrested if they tried making us wait for our appointment but I was determined that they were going to see him and he was not going to wait 6 hrs or so between appointments.
We got to the ataxia clinic around 10 and around 10:30 we were called up and told that the dr was going to try to get there before 12 so why don't we go get something to eat. That was fine with us. We were hungry and thirsty by that time. We got back just before 12 and we were seen by 12:15. I really like this dr. There was just something about him that made me feel like we were going to get somewhere with him. He thinks he knows what Connor has. He isn't sure but he thinks he has something called a Mitochondrial disease. There are 40 different kinds and we aren't sure what kind he has if this is it. There is no cure and no good treatment for this. The progression of this disease is anywhere from mild to fatal depending on which of the 40 he would have. There is a test for this but it has alot of false negatives. Even if he has this disease the test only picks it up about 30% of the time. It takes up to 5 weeks to get the results back.
We went and had the blood test done as soon as we were done at the clinic and all we can do now is wait. If this test comes back negative then the next step is a muscle biopsy. I am waiting to hear from this dr about a clotting disorder that could run in our family to see if he thinks it could have anything to do with what is going on with Connor and if we need to pursue it. He doesn't think so off the top of his head but like he said outside of the mitochondrial diseases this is the only other clue he has.
At this point we don't even know what to think or what to hope for. The dr really did floor us with this news. He seems to really think that this is what is going on with him though. After looking it up myself I have to say that it does seem to answer most of the problems that Connor has had that all the other ideas didn't. It seems the most plausible than any of the other things he has been tested for. Please keep him in your prayers. He really needs them.
We got to the ataxia clinic around 10 and around 10:30 we were called up and told that the dr was going to try to get there before 12 so why don't we go get something to eat. That was fine with us. We were hungry and thirsty by that time. We got back just before 12 and we were seen by 12:15. I really like this dr. There was just something about him that made me feel like we were going to get somewhere with him. He thinks he knows what Connor has. He isn't sure but he thinks he has something called a Mitochondrial disease. There are 40 different kinds and we aren't sure what kind he has if this is it. There is no cure and no good treatment for this. The progression of this disease is anywhere from mild to fatal depending on which of the 40 he would have. There is a test for this but it has alot of false negatives. Even if he has this disease the test only picks it up about 30% of the time. It takes up to 5 weeks to get the results back.
We went and had the blood test done as soon as we were done at the clinic and all we can do now is wait. If this test comes back negative then the next step is a muscle biopsy. I am waiting to hear from this dr about a clotting disorder that could run in our family to see if he thinks it could have anything to do with what is going on with Connor and if we need to pursue it. He doesn't think so off the top of his head but like he said outside of the mitochondrial diseases this is the only other clue he has.
At this point we don't even know what to think or what to hope for. The dr really did floor us with this news. He seems to really think that this is what is going on with him though. After looking it up myself I have to say that it does seem to answer most of the problems that Connor has had that all the other ideas didn't. It seems the most plausible than any of the other things he has been tested for. Please keep him in your prayers. He really needs them.
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